DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency

Name: Work Video:
Duration: 3 min 30 s
Clare V. Logan; Jennie Murray; David Parry; Andrea Robertson; Roberto Bellelli; Žygimantė Tarnauskaitė; Rachel Challis; Louise Cleal; Valérie Borel; Adeline Fluteau; Javier Santoyo‐López; Timothy J. Aitman; Inês Barroso; Donald Basel; Louise S. Bicknell; Himanshu Goel; Hao Hu; Chad Huff; Michele R. Hutchison; Caroline Joyce; Rachel Knox; Amy E. Lacroix; Sylvie Langlois; Shawn E. McCandless; Julie McCarrier; Kay Metcalfe; Rose Morrissey; Nuala Murphy; Irène Netchine; Susan O’Çonnell; Ann Haskins Olney; Nandina Paria; Jill A. Rosenfeld; Mark Sherlock; Erin Syverson; Perrin C. White; Carol A. Wise; Yao Yu; Margaret Zacharin; Indraneel Banerjee; Martin A.M. Reijns; Michael B. Bober; Robert K. Semple; Simon J. Boulton; Jonathan J. Rios; Andrew P. Jackson; Timothy J. Aitman; Andrew V. Biankin; Susanna L. Cooke; Wendy Inglis Humphrey; Sancha Martin; Lynne J. Mennie; Alison Meynert; Zosia Miedzybrodzka; Fiona Murphy; Craig Nourse; Javier Santoyo‐López; Colin A. Semple; Nicola Williams
{'id': 'https://openalex.org/W2902710416', 'doi': 'https://doi.org/10.1016/j.ajhg.2018.10.024', 'title': 'DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency', 'display_name': 'DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency', 'publication_year': 2018, 'publication_date': '2018-11-29', 'ids': {'openalex': 'https://openalex.org/W2902710416', 'doi': 'https://doi.org/10.1016/j.ajhg.2018.10.024', 'mag': '2902710416', 'pmid': 'https://pubmed.ncbi.nlm.nih.gov/30503519', 'pmcid': 'https://www.ncbi.nlm.nih.gov/pmc/articles/6288413'}, 'language': 'en', 'primary_location': {'is_oa': True, 'landing_page_url': 'https://doi.org/10.1016/j.ajhg.2018.10.024', 'pdf_url': 'https://www.cell.com/article/S0002929718304002/pdf', 'source': {'id': 'https://openalex.org/S134425043', 'display_name': 'The American Journal of Human Genetics', 'issn_l': '0002-9297', 'issn': ['0002-9297', '1537-6605'], 'is_oa': False, 'is_in_doaj': False, 'is_core': True, 'host_organization': 'https://openalex.org/P4310320990', 'host_organization_name': 'Elsevier BV', 'host_organization_lineage': ['https://openalex.org/P4310320990'], 'host_organization_lineage_names': ['Elsevier BV'], 'type': 'journal'}, 'license': 'cc-by-nc-nd', 'license_id': 'https://openalex.org/licenses/cc-by-nc-nd', 'version': 'publishedVersion', 'is_accepted': True, 'is_published': True}, 'type': 'article', 'type_crossref': 'journal-article', 'indexed_in': ['crossref', 'pubmed'], 'open_access': {'is_oa': True, 'oa_status': 'hybrid', 'oa_url': 'https://www.cell.com/article/S0002929718304002/pdf', 'any_repository_has_fulltext': True}, 'authorships': [{'author_position': 'first', 'author': {'id': 'https://openalex.org/A5029132133', 'display_name': 'Clare V. Logan', 'orcid': 'https://orcid.org/0000-0003-4323-1602'}, 'institutions': [{'id': 'https://openalex.org/I4210158898', 'display_name': 'MRC Institute of Genetics and Molecular Medicine', 'ror': 'https://ror.org/05hygey35', 'country_code': 'GB', 'type': 'facility', 'lineage': ['https://openalex.org/I4210087105', 'https://openalex.org/I4210158898', 'https://openalex.org/I90344618', 'https://openalex.org/I98677209']}, {'id': 'https://openalex.org/I98677209', 'display_name': 'University of Edinburgh', 'ror': 'https://ror.org/01nrxwf90', 'country_code': 'GB', 'type': 'education', 'lineage': ['https://openalex.org/I98677209']}], 'countries': ['GB'], 'is_corresponding': False, 'raw_author_name': 'Clare V. Logan', 'raw_affiliation_strings': ['MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK'], 'affiliations': [{'raw_affiliation_string': 'MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK', 'institution_ids': ['https://openalex.org/I4210158898', 'https://openalex.org/I98677209']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5051430280', 'display_name': 'Jennie Murray', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I4210158898', 'display_name': 'MRC Institute of Genetics and Molecular Medicine', 'ror': 'https://ror.org/05hygey35', 'country_code': 'GB', 'type': 'facility', 'lineage': ['https://openalex.org/I4210087105', 'https://openalex.org/I4210158898', 'https://openalex.org/I90344618', 'https://openalex.org/I98677209']}, {'id': 'https://openalex.org/I98677209', 'display_name': 'University of Edinburgh', 'ror': 'https://ror.org/01nrxwf90', 'country_code': 'GB', 'type': 'education', 'lineage': ['https://openalex.org/I98677209']}, {'id': 'https://openalex.org/I2800150677', 'display_name': 'Western General Hospital', 'ror': 'https://ror.org/009kr6r15', 'country_code': 'GB', 'type': 'healthcare', 'lineage': ['https://openalex.org/I1324252669', 'https://openalex.org/I2800150677']}], 'countries': ['GB'], 'is_corresponding': False, 'raw_author_name': 'Jennie E. Murray', 'raw_affiliation_strings': ['MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK', 'South East Scotland Clinical Genetics Service, Western General Hospital, Edinburgh EH4 2XU, UK'], 'affiliations': [{'raw_affiliation_string': 'MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK', 'institution_ids': ['https://openalex.org/I4210158898', 'https://openalex.org/I98677209']}, {'raw_affiliation_string': 'South East Scotland Clinical Genetics Service, Western General Hospital, Edinburgh EH4 2XU, UK', 'institution_ids': ['https://openalex.org/I2800150677']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5028131505', 'display_name': 'David Parry', 'orcid': 'https://orcid.org/0000-0003-0376-7736'}, 'institutions': [{'id': 'https://openalex.org/I98677209', 'display_name': 'University of Edinburgh', 'ror': 'https://ror.org/01nrxwf90', 'country_code': 'GB', 'type': 'education', 'lineage': ['https://openalex.org/I98677209']}, {'id': 'https://openalex.org/I4210158898', 'display_name': 'MRC Institute of Genetics and Molecular Medicine', 'ror': 'https://ror.org/05hygey35', 'country_code': 'GB', 'type': 'facility', 'lineage': ['https://openalex.org/I4210087105', 'https://openalex.org/I4210158898', 'https://openalex.org/I90344618', 'https://openalex.org/I98677209']}], 'countries': ['GB'], 'is_corresponding': False, 'raw_author_name': 'David A. Parry', 'raw_affiliation_strings': ['MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK'], 'affiliations': [{'raw_affiliation_string': 'MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK', 'institution_ids': ['https://openalex.org/I98677209', 'https://openalex.org/I4210158898']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5086583275', 'display_name': 'Andrea Robertson', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I4210158898', 'display_name': 'MRC Institute of Genetics and Molecular Medicine', 'ror': 'https://ror.org/05hygey35', 'country_code': 'GB', 'type': 'facility', 'lineage': ['https://openalex.org/I4210087105', 'https://openalex.org/I4210158898', 'https://openalex.org/I90344618', 'https://openalex.org/I98677209']}, {'id': 'https://openalex.org/I98677209', 'display_name': 'University of Edinburgh', 'ror': 'https://ror.org/01nrxwf90', 'country_code': 'GB', 'type': 'education', 'lineage': ['https://openalex.org/I98677209']}], 'countries': ['GB'], 'is_corresponding': False, 'raw_author_name': 'Andrea Robertson', 'raw_affiliation_strings': ['MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK'], 'affiliations': [{'raw_affiliation_string': 'MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK', 'institution_ids': ['https://openalex.org/I4210158898', 'https://openalex.org/I98677209']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5043717897', 'display_name': 'Roberto Bellelli', 'orcid': 'https://orcid.org/0000-0002-2062-7113'}, 'institutions': [{'id': 'https://openalex.org/I2801081054', 'display_name': 'The Francis Crick Institute', 'ror': 'https://ror.org/04tnbqb63', 'country_code': 'GB', 'type': 'facility', 'lineage': ['https://openalex.org/I2801081054']}], 'countries': ['GB'], 'is_corresponding': False, 'raw_author_name': 'Roberto Bellelli', 'raw_affiliation_strings': ['The Francis Crick Institute, 1 Midland Road, London NW1 1AT, UK'], 'affiliations': [{'raw_affiliation_string': 'The Francis Crick Institute, 1 Midland Road, London NW1 1AT, UK', 'institution_ids': ['https://openalex.org/I2801081054']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5069267835', 'display_name': 'Žygimantė Tarnauskaitė', 'orcid': 'https://orcid.org/0000-0003-1815-1651'}, 'institutions': [{'id': 'https://openalex.org/I4210158898', 'display_name': 'MRC Institute of Genetics and Molecular Medicine', 'ror': 'https://ror.org/05hygey35', 'country_code': 'GB', 'type': 'facility', 'lineage': ['https://openalex.org/I4210087105', 'https://openalex.org/I4210158898', 'https://openalex.org/I90344618', 'https://openalex.org/I98677209']}, {'id': 'https://openalex.org/I98677209', 'display_name': 'University of Edinburgh', 'ror': 'https://ror.org/01nrxwf90', 'country_code': 'GB', 'type': 'education', 'lineage': ['https://openalex.org/I98677209']}], 'countries': ['GB'], 'is_corresponding': False, 'raw_author_name': 'Žygimantė Tarnauskaitė', 'raw_affiliation_strings': ['MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK'], 'affiliations': [{'raw_affiliation_string': 'MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK', 'institution_ids': ['https://openalex.org/I4210158898', 'https://openalex.org/I98677209']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5074789003', 'display_name': 'Rachel Challis', 'orcid': 'https://orcid.org/0000-0001-9723-5743'}, 'institutions': [{'id': 'https://openalex.org/I2800150677', 'display_name': 'Western General Hospital', 'ror': 'https://ror.org/009kr6r15', 'country_code': 'GB', 'type': 'healthcare', 'lineage': ['https://openalex.org/I1324252669', 'https://openalex.org/I2800150677']}, {'id': 'https://openalex.org/I4210158898', 'display_name': 'MRC Institute of Genetics and Molecular Medicine', 'ror': 'https://ror.org/05hygey35', 'country_code': 'GB', 'type': 'facility', 'lineage': ['https://openalex.org/I4210087105', 'https://openalex.org/I4210158898', 'https://openalex.org/I90344618', 'https://openalex.org/I98677209']}, {'id': 'https://openalex.org/I98677209', 'display_name': 'University of Edinburgh', 'ror': 'https://ror.org/01nrxwf90', 'country_code': 'GB', 'type': 'education', 'lineage': ['https://openalex.org/I98677209']}], 'countries': ['GB'], 'is_corresponding': False, 'raw_author_name': 'Rachel Challis', 'raw_affiliation_strings': ['MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK', 'South East Scotland Clinical Genetics Service, Western General Hospital, Edinburgh EH4 2XU, UK'], 'affiliations': [{'raw_affiliation_string': 'South East Scotland Clinical Genetics Service, Western General Hospital, Edinburgh EH4 2XU, UK', 'institution_ids': ['https://openalex.org/I2800150677']}, {'raw_affiliation_string': 'MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK', 'institution_ids': ['https://openalex.org/I4210158898', 'https://openalex.org/I98677209']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5038690891', 'display_name': 'Louise Cleal', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I4210158898', 'display_name': 'MRC Institute of Genetics and Molecular Medicine', 'ror': 'https://ror.org/05hygey35', 'country_code': 'GB', 'type': 'facility', 'lineage': ['https://openalex.org/I4210087105', 'https://openalex.org/I4210158898', 'https://openalex.org/I90344618', 'https://openalex.org/I98677209']}, {'id': 'https://openalex.org/I98677209', 'display_name': 'University of Edinburgh', 'ror': 'https://ror.org/01nrxwf90', 'country_code': 'GB', 'type': 'education', 'lineage': ['https://openalex.org/I98677209']}, {'id': 'https://openalex.org/I2800150677', 'display_name': 'Western General Hospital', 'ror': 'https://ror.org/009kr6r15', 'country_code': 'GB', 'type': 'healthcare', 'lineage': ['https://openalex.org/I1324252669', 'https://openalex.org/I2800150677']}], 'countries': ['GB'], 'is_corresponding': False, 'raw_author_name': 'Louise Cleal', 'raw_affiliation_strings': ['MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK', 'South East Scotland Clinical Genetics Service, Western General Hospital, Edinburgh EH4 2XU, UK'], 'affiliations': [{'raw_affiliation_string': 'MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK', 'institution_ids': ['https://openalex.org/I4210158898', 'https://openalex.org/I98677209']}, {'raw_affiliation_string': 'South East Scotland Clinical Genetics Service, Western General Hospital, Edinburgh EH4 2XU, UK', 'institution_ids': ['https://openalex.org/I2800150677']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5048928725', 'display_name': 'Valérie Borel', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I2801081054', 'display_name': 'The Francis Crick Institute', 'ror': 'https://ror.org/04tnbqb63', 'country_code': 'GB', 'type': 'facility', 'lineage': ['https://openalex.org/I2801081054']}], 'countries': ['GB'], 'is_corresponding': False, 'raw_author_name': 'Valerie Borel', 'raw_affiliation_strings': ['The Francis Crick Institute, 1 Midland Road, London NW1 1AT, UK'], 'affiliations': [{'raw_affiliation_string': 'The Francis Crick Institute, 1 Midland Road, London NW1 1AT, UK', 'institution_ids': ['https://openalex.org/I2801081054']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5018869588', 'display_name': 'Adeline Fluteau', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I4210158898', 'display_name': 'MRC Institute of Genetics and Molecular Medicine', 'ror': 'https://ror.org/05hygey35', 'country_code': 'GB', 'type': 'facility', 'lineage': ['https://openalex.org/I4210087105', 'https://openalex.org/I4210158898', 'https://openalex.org/I90344618', 'https://openalex.org/I98677209']}, {'id': 'https://openalex.org/I98677209', 'display_name': 'University of Edinburgh', 'ror': 'https://ror.org/01nrxwf90', 'country_code': 'GB', 'type': 'education', 'lineage': ['https://openalex.org/I98677209']}], 'countries': ['GB'], 'is_corresponding': False, 'raw_author_name': 'Adeline Fluteau', 'raw_affiliation_strings': ['MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK'], 'affiliations': [{'raw_affiliation_string': 'MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK', 'institution_ids': ['https://openalex.org/I4210158898', 'https://openalex.org/I98677209']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5043902224', 'display_name': 'Javier Santoyo‐López', 'orcid': 'https://orcid.org/0000-0003-1988-5059'}, 'institutions': [{'id': 'https://openalex.org/I4210137845', 'display_name': 'Edinburgh Genomics', 'ror': 'https://ror.org/02z3r7t23', 'country_code': 'GB', 'type': 'facility', 'lineage': ['https://openalex.org/I4210137845']}, {'id': 'https://openalex.org/I133960621', 'display_name': 'Roslin Institute', 'ror': 'https://ror.org/01920rj20', 'country_code': 'GB', 'type': 'facility', 'lineage': ['https://openalex.org/I133960621', 'https://openalex.org/I2799693246', 'https://openalex.org/I4210087105', 'https://openalex.org/I98677209']}, {'id': 'https://openalex.org/I98677209', 'display_name': 'University of Edinburgh', 'ror': 'https://ror.org/01nrxwf90', 'country_code': 'GB', 'type': 'education', 'lineage': ['https://openalex.org/I98677209']}], 'countries': ['GB'], 'is_corresponding': False, 'raw_author_name': 'Javier Santoyo-Lopez', 'raw_affiliation_strings': ['Edinburgh Genomics Clinical Division, University of Edinburgh, The Roslin Institute, Edinburgh EH25 9RG, UK'], 'affiliations': [{'raw_affiliation_string': 'Edinburgh Genomics Clinical Division, University of Edinburgh, The Roslin Institute, Edinburgh EH25 9RG, UK', 'institution_ids': ['https://openalex.org/I4210137845', 'https://openalex.org/I133960621', 'https://openalex.org/I98677209']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5041822939', 'display_name': 'Timothy J. Aitman', 'orcid': 'https://orcid.org/0000-0002-7875-4502'}, 'institutions': [{'id': 'https://openalex.org/I98677209', 'display_name': 'University of Edinburgh', 'ror': 'https://ror.org/01nrxwf90', 'country_code': 'GB', 'type': 'education', 'lineage': ['https://openalex.org/I98677209']}, {'id': 'https://openalex.org/I4210158898', 'display_name': 'MRC Institute of Genetics and Molecular Medicine', 'ror': 'https://ror.org/05hygey35', 'country_code': 'GB', 'type': 'facility', 'lineage': ['https://openalex.org/I4210087105', 'https://openalex.org/I4210158898', 'https://openalex.org/I90344618', 'https://openalex.org/I98677209']}], 'countries': ['GB'], 'is_corresponding': False, 'raw_author_name': 'Tim Aitman', 'raw_affiliation_strings': ['MRC Centre for Genomic & Experimental Medicine, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK'], 'affiliations': [{'raw_affiliation_string': 'MRC Centre for Genomic & Experimental Medicine, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK', 'institution_ids': ['https://openalex.org/I98677209', 'https://openalex.org/I4210158898']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5054870758', 'display_name': 'Inês Barroso', 'orcid': 'https://orcid.org/0000-0001-5800-4520'}, 'institutions': [{'id': 'https://openalex.org/I2802476451', 'display_name': 'Wellcome Sanger Institute', 'ror': 'https://ror.org/05cy4wa09', 'country_code': 'GB', 'type': 'nonprofit', 'lineage': ['https://openalex.org/I2802476451', 'https://openalex.org/I87048295']}], 'countries': ['GB'], 'is_corresponding': False, 'raw_author_name': 'Inês Barroso', 'raw_affiliation_strings': ['Wellcome Sanger Institute, Cambridge CB10 1SA, UK'], 'affiliations': [{'raw_affiliation_string': 'Wellcome Sanger Institute, Cambridge CB10 1SA, UK', 'institution_ids': ['https://openalex.org/I2802476451']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5000990352', 'display_name': 'Donald Basel', 'orcid': 'https://orcid.org/0000-0002-1801-8554'}, 'institutions': [{'id': 'https://openalex.org/I204308271', 'display_name': 'Medical College of Wisconsin', 'ror': 'https://ror.org/00qqv6244', 'country_code': 'US', 'type': 'education', 'lineage': ['https://openalex.org/I204308271']}, {'id': 'https://openalex.org/I126218986', 'display_name': "Children's Hospital of Wisconsin", 'ror': 'https://ror.org/049cbmb74', 'country_code': 'US', 'type': 'healthcare', 'lineage': ['https://openalex.org/I126218986']}], 'countries': ['US'], 'is_corresponding': False, 'raw_author_name': 'Donald Basel', 'raw_affiliation_strings': ['Medical College of Wisconsin from Children’s Hospital of Wisconsin, Milwaukee, WI 53226, USA'], 'affiliations': [{'raw_affiliation_string': 'Medical College of Wisconsin from Children’s Hospital of Wisconsin, Milwaukee, WI 53226, USA', 'institution_ids': ['https://openalex.org/I204308271', 'https://openalex.org/I126218986']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5044756083', 'display_name': 'Louise S. Bicknell', 'orcid': 'https://orcid.org/0000-0001-6899-9322'}, 'institutions': [{'id': 'https://openalex.org/I80281795', 'display_name': 'University of Otago', 'ror': 'https://ror.org/01jmxt844', 'country_code': 'NZ', 'type': 'education', 'lineage': ['https://openalex.org/I80281795']}], 'countries': ['NZ'], 'is_corresponding': False, 'raw_author_name': 'Louise S. Bicknell', 'raw_affiliation_strings': ['Department of Pathology, Dunedin School of Medicine, University of Otago, Dunedin 9016, New Zealand'], 'affiliations': [{'raw_affiliation_string': 'Department of Pathology, Dunedin School of Medicine, University of Otago, Dunedin 9016, New Zealand', 'institution_ids': ['https://openalex.org/I80281795']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5064878169', 'display_name': 'Himanshu Goel', 'orcid': 'https://orcid.org/0000-0001-6448-6618'}, 'institutions': [{'id': 'https://openalex.org/I78757542', 'display_name': 'University of Newcastle Australia', 'ror': 'https://ror.org/00eae9z71', 'country_code': 'AU', 'type': 'education', 'lineage': ['https://openalex.org/I78757542']}, {'id': 'https://openalex.org/I4210097885', 'display_name': 'Hunter Genetics', 'ror': 'https://ror.org/00w1xt505', 'country_code': 'AU', 'type': 'healthcare', 'lineage': ['https://openalex.org/I4210097885', 'https://openalex.org/I4210154888']}], 'countries': ['AU'], 'is_corresponding': False, 'raw_author_name': 'Himanshu Goel', 'raw_affiliation_strings': ['Hunter Genetics, Waratah, NSW 2305, Australia', 'University of Newcastle, Callaghan, NSW 2308, Australia'], 'affiliations': [{'raw_affiliation_string': 'University of Newcastle, Callaghan, NSW 2308, Australia', 'institution_ids': ['https://openalex.org/I78757542']}, {'raw_affiliation_string': 'Hunter Genetics, Waratah, NSW 2305, Australia', 'institution_ids': ['https://openalex.org/I4210097885']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5046973045', 'display_name': 'Hao Hu', 'orcid': 'https://orcid.org/0000-0002-3567-609X'}, 'institutions': [{'id': 'https://openalex.org/I1343551460', 'display_name': 'The University of Texas MD Anderson Cancer Center', 'ror': 'https://ror.org/04twxam07', 'country_code': 'US', 'type': 'healthcare', 'lineage': ['https://openalex.org/I1343551460']}], 'countries': ['US'], 'is_corresponding': False, 'raw_author_name': 'Hao Hu', 'raw_affiliation_strings': ['Department of Epidemiology, MD Anderson Cancer Center, Houston, TX 77030, USA'], 'affiliations': [{'raw_affiliation_string': 'Department of Epidemiology, MD Anderson Cancer Center, Houston, TX 77030, USA', 'institution_ids': ['https://openalex.org/I1343551460']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5112189507', 'display_name': 'Chad Huff', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I1343551460', 'display_name': 'The University of Texas MD Anderson Cancer Center', 'ror': 'https://ror.org/04twxam07', 'country_code': 'US', 'type': 'healthcare', 'lineage': ['https://openalex.org/I1343551460']}], 'countries': ['US'], 'is_corresponding': False, 'raw_author_name': 'Chad Huff', 'raw_affiliation_strings': ['Department of Epidemiology, MD Anderson Cancer Center, Houston, TX 77030, USA'], 'affiliations': [{'raw_affiliation_string': 'Department of Epidemiology, MD Anderson Cancer Center, Houston, TX 77030, USA', 'institution_ids': ['https://openalex.org/I1343551460']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5043559854', 'display_name': 'Michele R. Hutchison', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I102401767', 'display_name': 'University of Arkansas at Little Rock', 'ror': 'https://ror.org/04fttyv97', 'country_code': 'US', 'type': 'education', 'lineage': ['https://openalex.org/I102401767']}], 'countries': ['US'], 'is_corresponding': False, 'raw_author_name': 'Michele Hutchison', 'raw_affiliation_strings': ['Department of Pediatrics, University of Arkansas, Little Rock, AR 72205, USA'], 'affiliations': [{'raw_affiliation_string': 'Department of Pediatrics, University of Arkansas, Little Rock, AR 72205, USA', 'institution_ids': ['https://openalex.org/I102401767']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5102844279', 'display_name': 'Caroline Joyce', 'orcid': 'https://orcid.org/0000-0001-7231-8331'}, 'institutions': [{'id': 'https://openalex.org/I2802396013', 'display_name': 'Cork University Hospital', 'ror': 'https://ror.org/04q107642', 'country_code': 'IE', 'type': 'healthcare', 'lineage': ['https://openalex.org/I2802396013']}], 'countries': ['IE'], 'is_corresponding': False, 'raw_author_name': 'Caroline Joyce', 'raw_affiliation_strings': ['Department of Clinical Biochemistry, Cork University Hospital, Cork, Ireland'], 'affiliations': [{'raw_affiliation_string': 'Department of Clinical Biochemistry, Cork University Hospital, Cork, Ireland', 'institution_ids': ['https://openalex.org/I2802396013']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5023399910', 'display_name': 'Rachel Knox', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I241749', 'display_name': 'University of Cambridge', 'ror': 'https://ror.org/013meh722', 'country_code': 'GB', 'type': 'education', 'lineage': ['https://openalex.org/I241749']}], 'countries': ['GB'], 'is_corresponding': False, 'raw_author_name': 'Rachel Knox', 'raw_affiliation_strings': ['MRC Metabolic Diseases Unit, University of Cambridge, Cambridge CB2 0QQ, UK'], 'affiliations': [{'raw_affiliation_string': 'MRC Metabolic Diseases Unit, University of Cambridge, Cambridge CB2 0QQ, UK', 'institution_ids': ['https://openalex.org/I241749']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5103862477', 'display_name': 'Amy E. Lacroix', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I59130452', 'display_name': 'University of Nebraska Medical Center', 'ror': 'https://ror.org/00thqtb16', 'country_code': 'US', 'type': 'healthcare', 'lineage': ['https://openalex.org/I59130452']}], 'countries': ['US'], 'is_corresponding': False, 'raw_author_name': 'Amy E. Lacroix', 'raw_affiliation_strings': ['University of Nebraska Medical Centre, Omaha, NE 68918, USA'], 'affiliations': [{'raw_affiliation_string': 'University of Nebraska Medical Centre, Omaha, NE 68918, USA', 'institution_ids': ['https://openalex.org/I59130452']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5006464025', 'display_name': 'Sylvie Langlois', 'orcid': 'https://orcid.org/0000-0001-9301-3625'}, 'institutions': [{'id': 'https://openalex.org/I141945490', 'display_name': 'University of British Columbia', 'ror': 'https://ror.org/03rmrcq20', 'country_code': 'CA', 'type': 'education', 'lineage': ['https://openalex.org/I141945490']}], 'countries': ['CA'], 'is_corresponding': False, 'raw_author_name': 'Sylvie Langlois', 'raw_affiliation_strings': ['Department of Medical Genetics, The University of British Columbia, Vancouver, BC V6H 3N1, Canada'], 'affiliations': [{'raw_affiliation_string': 'Department of Medical Genetics, The University of British Columbia, Vancouver, BC V6H 3N1, Canada', 'institution_ids': ['https://openalex.org/I141945490']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5108528044', 'display_name': 'Shawn E. McCandless', 'orcid': None}, 'institutions': [], 'countries': ['US'], 'is_corresponding': False, 'raw_author_name': 'Shawn McCandless', 'raw_affiliation_strings': ['Pediatric Genetics, UH Cleveland Medical Center, Cleveland, OH 44106, USA'], 'affiliations': [{'raw_affiliation_string': 'Pediatric Genetics, UH Cleveland Medical Center, Cleveland, OH 44106, USA', 'institution_ids': []}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5009906729', 'display_name': 'Julie McCarrier', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I126218986', 'display_name': "Children's Hospital of Wisconsin", 'ror': 'https://ror.org/049cbmb74', 'country_code': 'US', 'type': 'healthcare', 'lineage': ['https://openalex.org/I126218986']}, {'id': 'https://openalex.org/I204308271', 'display_name': 'Medical College of Wisconsin', 'ror': 'https://ror.org/00qqv6244', 'country_code': 'US', 'type': 'education', 'lineage': ['https://openalex.org/I204308271']}], 'countries': ['US'], 'is_corresponding': False, 'raw_author_name': 'Julie McCarrier', 'raw_affiliation_strings': ['Medical College of Wisconsin from Children’s Hospital of Wisconsin, Milwaukee, WI 53226, USA'], 'affiliations': [{'raw_affiliation_string': 'Medical College of Wisconsin from Children’s Hospital of Wisconsin, Milwaukee, WI 53226, USA', 'institution_ids': ['https://openalex.org/I126218986', 'https://openalex.org/I204308271']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5110435778', 'display_name': 'Kay Metcalfe', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I4210092852', 'display_name': 'Manchester University NHS Foundation Trust', 'ror': 'https://ror.org/00he80998', 'country_code': 'GB', 'type': 'healthcare', 'lineage': ['https://openalex.org/I4210092852']}], 'countries': ['GB'], 'is_corresponding': False, 'raw_author_name': 'Kay A. Metcalfe', 'raw_affiliation_strings': ['Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust and Institute of Human Development, University of Manchester, Manchester M13 9WL, UK'], 'affiliations': [{'raw_affiliation_string': 'Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust and Institute of Human Development, University of Manchester, Manchester M13 9WL, UK', 'institution_ids': ['https://openalex.org/I4210092852']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5065035747', 'display_name': 'Rose Morrissey', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I2802396013', 'display_name': 'Cork University Hospital', 'ror': 'https://ror.org/04q107642', 'country_code': 'IE', 'type': 'healthcare', 'lineage': ['https://openalex.org/I2802396013']}], 'countries': ['IE'], 'is_corresponding': False, 'raw_author_name': 'Rose Morrissey', 'raw_affiliation_strings': ['Department of Paediatrics and Child Health, Cork University Hospital, Cork, Ireland'], 'affiliations': [{'raw_affiliation_string': 'Department of Paediatrics and Child Health, Cork University Hospital, Cork, Ireland', 'institution_ids': ['https://openalex.org/I2802396013']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5111603775', 'display_name': 'Nuala Murphy', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I3019103622', 'display_name': "Temple Street Children's University Hospital", 'ror': 'https://ror.org/0527gjc91', 'country_code': 'IE', 'type': 'healthcare', 'lineage': ['https://openalex.org/I3019103622']}], 'countries': ['IE'], 'is_corresponding': False, 'raw_author_name': 'Nuala Murphy', 'raw_affiliation_strings': ['UCD School of Medicine, Children’s University Hospital, Temple St, Dublin, Ireland'], 'affiliations': [{'raw_affiliation_string': 'UCD School of Medicine, Children’s University Hospital, Temple St, Dublin, Ireland', 'institution_ids': ['https://openalex.org/I3019103622']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5055608937', 'display_name': 'Irène Netchine', 'orcid': 'https://orcid.org/0000-0003-1324-3389'}, 'institutions': [{'id': 'https://openalex.org/I154526488', 'display_name': 'Inserm', 'ror': 'https://ror.org/02vjkv261', 'country_code': 'FR', 'type': 'government', 'lineage': ['https://openalex.org/I154526488']}, {'id': 'https://openalex.org/I39804081', 'display_name': 'Sorbonne Université', 'ror': 'https://ror.org/02en5vm52', 'country_code': 'FR', 'type': 'education', 'lineage': ['https://openalex.org/I39804081']}, {'id': 'https://openalex.org/I204730241', 'display_name': 'Université Paris Cité', 'ror': 'https://ror.org/05f82e368', 'country_code': 'FR', 'type': 'education', 'lineage': ['https://openalex.org/I204730241']}, {'id': 'https://openalex.org/I4210097159', 'display_name': 'Assistance Publique – Hôpitaux de Paris', 'ror': 'https://ror.org/00pg5jh14', 'country_code': 'FR', 'type': 'healthcare', 'lineage': ['https://openalex.org/I4210097159']}], 'countries': ['FR'], 'is_corresponding': False, 'raw_author_name': 'Irène Netchine', 'raw_affiliation_strings': ['Sorbonne Université, INSERM, UMR_S 938, APHP, Hospital Trousseau, 75012 Paris, France'], 'affiliations': [{'raw_affiliation_string': 'Sorbonne Université, INSERM, UMR_S 938, APHP, Hospital Trousseau, 75012 Paris, France', 'institution_ids': ['https://openalex.org/I154526488', 'https://openalex.org/I39804081', 'https://openalex.org/I204730241', 'https://openalex.org/I4210097159']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5045320492', 'display_name': 'Susan O’Çonnell', 'orcid': 'https://orcid.org/0000-0002-5887-2771'}, 'institutions': [{'id': 'https://openalex.org/I3019103622', 'display_name': "Temple Street Children's University Hospital", 'ror': 'https://ror.org/0527gjc91', 'country_code': 'IE', 'type': 'healthcare', 'lineage': ['https://openalex.org/I3019103622']}], 'countries': ['IE'], 'is_corresponding': False, 'raw_author_name': 'Susan M. O’Connell', 'raw_affiliation_strings': ['UCD School of Medicine, Children’s University Hospital, Temple St, Dublin, Ireland'], 'affiliations': [{'raw_affiliation_string': 'UCD School of Medicine, Children’s University Hospital, Temple St, Dublin, Ireland', 'institution_ids': ['https://openalex.org/I3019103622']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5109949550', 'display_name': 'Ann Haskins Olney', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I59130452', 'display_name': 'University of Nebraska Medical Center', 'ror': 'https://ror.org/00thqtb16', 'country_code': 'US', 'type': 'healthcare', 'lineage': ['https://openalex.org/I59130452']}], 'countries': ['US'], 'is_corresponding': False, 'raw_author_name': 'Ann Haskins Olney', 'raw_affiliation_strings': ['University of Nebraska Medical Centre, Omaha, NE 68918, USA'], 'affiliations': [{'raw_affiliation_string': 'University of Nebraska Medical Centre, Omaha, NE 68918, USA', 'institution_ids': ['https://openalex.org/I59130452']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5015755862', 'display_name': 'Nandina Paria', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I2802862759', 'display_name': 'Texas Scottish Rite Hospital for Children', 'ror': 'https://ror.org/03gd5jm66', 'country_code': 'US', 'type': 'healthcare', 'lineage': ['https://openalex.org/I2802862759']}], 'countries': ['US'], 'is_corresponding': False, 'raw_author_name': 'Nandina Paria', 'raw_affiliation_strings': ['Sarah M. and Charles E. Seay Center for Musculoskeletal Research, Texas Scottish Rite Hospital for Children, Dallas, TX 75219, USA'], 'affiliations': [{'raw_affiliation_string': 'Sarah M. and Charles E. Seay Center for Musculoskeletal Research, Texas Scottish Rite Hospital for Children, Dallas, TX 75219, USA', 'institution_ids': ['https://openalex.org/I2802862759']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5051066678', 'display_name': 'Jill A. Rosenfeld', 'orcid': 'https://orcid.org/0000-0001-5664-7987'}, 'institutions': [{'id': 'https://openalex.org/I181547552', 'display_name': 'Baylor College of Medicine', 'ror': 'https://ror.org/02pttbw34', 'country_code': 'US', 'type': 'education', 'lineage': ['https://openalex.org/I181547552', 'https://openalex.org/I2801539370']}], 'countries': ['US'], 'is_corresponding': False, 'raw_author_name': 'Jill A. Rosenfeld', 'raw_affiliation_strings': ['Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA'], 'affiliations': [{'raw_affiliation_string': 'Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA', 'institution_ids': ['https://openalex.org/I181547552']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5032228366', 'display_name': 'Mark Sherlock', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I2801846703', 'display_name': 'Beaumont Hospital', 'ror': 'https://ror.org/043mzjj67', 'country_code': 'IE', 'type': 'healthcare', 'lineage': ['https://openalex.org/I2801846703']}], 'countries': ['IE'], 'is_corresponding': False, 'raw_author_name': 'Mark Sherlock', 'raw_affiliation_strings': ['Department of Endocrinology, Beaumont Hospital, Dublin, Ireland'], 'affiliations': [{'raw_affiliation_string': 'Department of Endocrinology, Beaumont Hospital, Dublin, Ireland', 'institution_ids': ['https://openalex.org/I2801846703']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5035672200', 'display_name': 'Erin Syverson', 'orcid': 'https://orcid.org/0000-0003-4201-2440'}, 'institutions': [{'id': 'https://openalex.org/I126218986', 'display_name': "Children's Hospital of Wisconsin", 'ror': 'https://ror.org/049cbmb74', 'country_code': 'US', 'type': 'healthcare', 'lineage': ['https://openalex.org/I126218986']}, {'id': 'https://openalex.org/I204308271', 'display_name': 'Medical College of Wisconsin', 'ror': 'https://ror.org/00qqv6244', 'country_code': 'US', 'type': 'education', 'lineage': ['https://openalex.org/I204308271']}], 'countries': ['US'], 'is_corresponding': False, 'raw_author_name': 'Erin Syverson', 'raw_affiliation_strings': ['Medical College of Wisconsin from Children’s Hospital of Wisconsin, Milwaukee, WI 53226, USA'], 'affiliations': [{'raw_affiliation_string': 'Medical College of Wisconsin from Children’s Hospital of Wisconsin, Milwaukee, WI 53226, USA', 'institution_ids': ['https://openalex.org/I126218986', 'https://openalex.org/I204308271']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5033634039', 'display_name': 'Perrin C. White', 'orcid': 'https://orcid.org/0000-0001-6262-0289'}, 'institutions': [{'id': 'https://openalex.org/I867280407', 'display_name': 'The University of Texas Southwestern Medical Center', 'ror': 'https://ror.org/05byvp690', 'country_code': 'US', 'type': 'healthcare', 'lineage': ['https://openalex.org/I867280407']}], 'countries': ['US'], 'is_corresponding': False, 'raw_author_name': 'Perrin C. White', 'raw_affiliation_strings': ['Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA'], 'affiliations': [{'raw_affiliation_string': 'Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA', 'institution_ids': ['https://openalex.org/I867280407']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5063635497', 'display_name': 'Carol A. Wise', 'orcid': 'https://orcid.org/0000-0002-6790-2194'}, 'institutions': [{'id': 'https://openalex.org/I867280407', 'display_name': 'The University of Texas Southwestern Medical Center', 'ror': 'https://ror.org/05byvp690', 'country_code': 'US', 'type': 'healthcare', 'lineage': ['https://openalex.org/I867280407']}, {'id': 'https://openalex.org/I2802862759', 'display_name': 'Texas Scottish Rite Hospital for Children', 'ror': 'https://ror.org/03gd5jm66', 'country_code': 'US', 'type': 'healthcare', 'lineage': ['https://openalex.org/I2802862759']}], 'countries': ['US'], 'is_corresponding': False, 'raw_author_name': 'Carol Wise', 'raw_affiliation_strings': ['Department of Orthopaedic Surgery, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA', 'Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA', 'McDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA', 'Sarah M. and Charles E. Seay Center for Musculoskeletal Research, Texas Scottish Rite Hospital for Children, Dallas, TX 75219, USA'], 'affiliations': [{'raw_affiliation_string': 'Department of Orthopaedic Surgery, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA', 'institution_ids': ['https://openalex.org/I867280407']}, {'raw_affiliation_string': 'McDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA', 'institution_ids': ['https://openalex.org/I867280407', 'https://openalex.org/I867280407']}, {'raw_affiliation_string': 'Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA', 'institution_ids': ['https://openalex.org/I867280407']}, {'raw_affiliation_string': 'Sarah M. and Charles E. Seay Center for Musculoskeletal Research, Texas Scottish Rite Hospital for Children, Dallas, TX 75219, USA', 'institution_ids': ['https://openalex.org/I2802862759']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5083562088', 'display_name': 'Yao Yu', 'orcid': 'https://orcid.org/0000-0002-2727-1746'}, 'institutions': [{'id': 'https://openalex.org/I1343551460', 'display_name': 'The University of Texas MD Anderson Cancer Center', 'ror': 'https://ror.org/04twxam07', 'country_code': 'US', 'type': 'healthcare', 'lineage': ['https://openalex.org/I1343551460']}], 'countries': ['US'], 'is_corresponding': False, 'raw_author_name': 'Yao Yu', 'raw_affiliation_strings': ['Department of Epidemiology, MD Anderson Cancer Center, Houston, TX 77030, USA'], 'affiliations': [{'raw_affiliation_string': 'Department of Epidemiology, MD Anderson Cancer Center, Houston, TX 77030, USA', 'institution_ids': ['https://openalex.org/I1343551460']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5052663341', 'display_name': 'Margaret Zacharin', 'orcid': 'https://orcid.org/0000-0001-5562-6818'}, 'institutions': [{'id': 'https://openalex.org/I1321649718', 'display_name': "Royal Children's Hospital", 'ror': 'https://ror.org/02rktxt32', 'country_code': 'AU', 'type': 'healthcare', 'lineage': ['https://openalex.org/I1321649718']}], 'countries': ['AU'], 'is_corresponding': False, 'raw_author_name': 'Margaret Zacharin', 'raw_affiliation_strings': ['Division of Medicine, Royal Children’s Hospital, Melbourne, VIC 3052, Australia'], 'affiliations': [{'raw_affiliation_string': 'Division of Medicine, Royal Children’s Hospital, Melbourne, VIC 3052, Australia', 'institution_ids': ['https://openalex.org/I1321649718']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5063169698', 'display_name': 'Indraneel Banerjee', 'orcid': 'https://orcid.org/0000-0003-4280-7470'}, 'institutions': [{'id': 'https://openalex.org/I4210160221', 'display_name': "Royal Manchester Children's Hospital", 'ror': 'https://ror.org/052vjje65', 'country_code': 'GB', 'type': 'healthcare', 'lineage': ['https://openalex.org/I4210092852', 'https://openalex.org/I4210160221']}, {'id': 'https://openalex.org/I2799725268', 'display_name': 'Manchester Academic Health Science Centre', 'ror': 'https://ror.org/04rrkhs81', 'country_code': 'GB', 'type': 'healthcare', 'lineage': ['https://openalex.org/I2799725268']}], 'countries': ['GB'], 'is_corresponding': False, 'raw_author_name': 'Indraneel Banerjee', 'raw_affiliation_strings': ['Department of Paediatric Endocrinology, Royal Manchester Children’s Hospital, Manchester Academic Health Science Centre, Manchester M13 9WU, UK'], 'affiliations': [{'raw_affiliation_string': 'Department of Paediatric Endocrinology, Royal Manchester Children’s Hospital, Manchester Academic Health Science Centre, Manchester M13 9WU, UK', 'institution_ids': ['https://openalex.org/I4210160221', 'https://openalex.org/I2799725268']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5002730110', 'display_name': 'Martin A.M. Reijns', 'orcid': 'https://orcid.org/0000-0002-5048-2752'}, 'institutions': [{'id': 'https://openalex.org/I4210158898', 'display_name': 'MRC Institute of Genetics and Molecular Medicine', 'ror': 'https://ror.org/05hygey35', 'country_code': 'GB', 'type': 'facility', 'lineage': ['https://openalex.org/I4210087105', 'https://openalex.org/I4210158898', 'https://openalex.org/I90344618', 'https://openalex.org/I98677209']}, {'id': 'https://openalex.org/I98677209', 'display_name': 'University of Edinburgh', 'ror': 'https://ror.org/01nrxwf90', 'country_code': 'GB', 'type': 'education', 'lineage': ['https://openalex.org/I98677209']}], 'countries': ['GB'], 'is_corresponding': False, 'raw_author_name': 'Martin Reijns', 'raw_affiliation_strings': ['MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK'], 'affiliations': [{'raw_affiliation_string': 'MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK', 'institution_ids': ['https://openalex.org/I4210158898', 'https://openalex.org/I98677209']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5033079105', 'display_name': 'Michael B. Bober', 'orcid': 'https://orcid.org/0000-0002-6178-1264'}, 'institutions': [{'id': 'https://openalex.org/I1326254912', 'display_name': 'Alfred I. duPont Hospital for Children', 'ror': 'https://ror.org/00jyx0v10', 'country_code': 'US', 'type': 'healthcare', 'lineage': ['https://openalex.org/I1326254912', 'https://openalex.org/I4210108049']}], 'countries': ['US'], 'is_corresponding': False, 'raw_author_name': 'Michael B. Bober', 'raw_affiliation_strings': ['Nemours-Alfred I. duPont Hospital for Children, Wilmington, DE 19803, USA'], 'affiliations': [{'raw_affiliation_string': 'Nemours-Alfred I. duPont Hospital for Children, Wilmington, DE 19803, USA', 'institution_ids': ['https://openalex.org/I1326254912']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5101628617', 'display_name': 'Robert K. Semple', 'orcid': 'https://orcid.org/0000-0001-6539-3069'}, 'institutions': [{'id': 'https://openalex.org/I241749', 'display_name': 'University of Cambridge', 'ror': 'https://ror.org/013meh722', 'country_code': 'GB', 'type': 'education', 'lineage': ['https://openalex.org/I241749']}, {'id': 'https://openalex.org/I98677209', 'display_name': 'University of Edinburgh', 'ror': 'https://ror.org/01nrxwf90', 'country_code': 'GB', 'type': 'education', 'lineage': ['https://openalex.org/I98677209']}], 'countries': ['GB'], 'is_corresponding': False, 'raw_author_name': 'Robert K. Semple', 'raw_affiliation_strings': ['Centre for Cardiovascular Science, University of Edinburgh, Edinburgh EH16 4TJ, UK', 'MRC Metabolic Diseases Unit, University of Cambridge, Cambridge CB2 0QQ, UK'], 'affiliations': [{'raw_affiliation_string': 'MRC Metabolic Diseases Unit, University of Cambridge, Cambridge CB2 0QQ, UK', 'institution_ids': ['https://openalex.org/I241749']}, {'raw_affiliation_string': 'Centre for Cardiovascular Science, University of Edinburgh, Edinburgh EH16 4TJ, UK', 'institution_ids': ['https://openalex.org/I98677209']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5091323966', 'display_name': 'Simon J. Boulton', 'orcid': 'https://orcid.org/0000-0001-6936-6834'}, 'institutions': [{'id': 'https://openalex.org/I2801081054', 'display_name': 'The Francis Crick Institute', 'ror': 'https://ror.org/04tnbqb63', 'country_code': 'GB', 'type': 'facility', 'lineage': ['https://openalex.org/I2801081054']}], 'countries': ['GB'], 'is_corresponding': False, 'raw_author_name': 'Simon J. Boulton', 'raw_affiliation_strings': ['The Francis Crick Institute, 1 Midland Road, London NW1 1AT, UK'], 'affiliations': [{'raw_affiliation_string': 'The Francis Crick Institute, 1 Midland Road, London NW1 1AT, UK', 'institution_ids': ['https://openalex.org/I2801081054']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5072424414', 'display_name': 'Jonathan J. Rios', 'orcid': 'https://orcid.org/0000-0002-0969-2184'}, 'institutions': [{'id': 'https://openalex.org/I867280407', 'display_name': 'The University of Texas Southwestern Medical Center', 'ror': 'https://ror.org/05byvp690', 'country_code': 'US', 'type': 'healthcare', 'lineage': ['https://openalex.org/I867280407']}, {'id': 'https://openalex.org/I2802862759', 'display_name': 'Texas Scottish Rite Hospital for Children', 'ror': 'https://ror.org/03gd5jm66', 'country_code': 'US', 'type': 'healthcare', 'lineage': ['https://openalex.org/I2802862759']}], 'countries': ['US'], 'is_corresponding': False, 'raw_author_name': 'Jonathan J. Rios', 'raw_affiliation_strings': ['Department of Orthopaedic Surgery, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA', 'Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA', 'McDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA', 'Sarah M. and Charles E. Seay Center for Musculoskeletal Research, Texas Scottish Rite Hospital for Children, Dallas, TX 75219, USA'], 'affiliations': [{'raw_affiliation_string': 'McDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA', 'institution_ids': ['https://openalex.org/I867280407', 'https://openalex.org/I867280407']}, {'raw_affiliation_string': 'Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA', 'institution_ids': ['https://openalex.org/I867280407']}, {'raw_affiliation_string': 'Sarah M. and Charles E. Seay Center for Musculoskeletal Research, Texas Scottish Rite Hospital for Children, Dallas, TX 75219, USA', 'institution_ids': ['https://openalex.org/I2802862759']}, {'raw_affiliation_string': 'Department of Orthopaedic Surgery, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA', 'institution_ids': ['https://openalex.org/I867280407']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5048144016', 'display_name': 'Andrew P. Jackson', 'orcid': 'https://orcid.org/0000-0002-8739-2646'}, 'institutions': [{'id': 'https://openalex.org/I4210158898', 'display_name': 'MRC Institute of Genetics and Molecular Medicine', 'ror': 'https://ror.org/05hygey35', 'country_code': 'GB', 'type': 'facility', 'lineage': ['https://openalex.org/I4210087105', 'https://openalex.org/I4210158898', 'https://openalex.org/I90344618', 'https://openalex.org/I98677209']}, {'id': 'https://openalex.org/I98677209', 'display_name': 'University of Edinburgh', 'ror': 'https://ror.org/01nrxwf90', 'country_code': 'GB', 'type': 'education', 'lineage': ['https://openalex.org/I98677209']}], 'countries': ['GB'], 'is_corresponding': False, 'raw_author_name': 'Andrew P. Jackson', 'raw_affiliation_strings': ['MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK'], 'affiliations': [{'raw_affiliation_string': 'MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK', 'institution_ids': ['https://openalex.org/I4210158898', 'https://openalex.org/I98677209']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5041822939', 'display_name': 'Timothy J. Aitman', 'orcid': 'https://orcid.org/0000-0002-7875-4502'}, 'institutions': [{'id': 'https://openalex.org/I4210158898', 'display_name': 'MRC Institute of Genetics and Molecular Medicine', 'ror': 'https://ror.org/05hygey35', 'country_code': 'GB', 'type': 'facility', 'lineage': ['https://openalex.org/I4210087105', 'https://openalex.org/I4210158898', 'https://openalex.org/I90344618', 'https://openalex.org/I98677209']}, {'id': 'https://openalex.org/I98677209', 'display_name': 'University of Edinburgh', 'ror': 'https://ror.org/01nrxwf90', 'country_code': 'GB', 'type': 'education', 'lineage': ['https://openalex.org/I98677209']}], 'countries': ['GB'], 'is_corresponding': False, 'raw_author_name': 'Timothy J. Aitman', 'raw_affiliation_strings': ['MRC Centre for Genomic & Experimental Medicine, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK'], 'affiliations': [{'raw_affiliation_string': 'MRC Centre for Genomic & Experimental Medicine, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK', 'institution_ids': ['https://openalex.org/I4210158898', 'https://openalex.org/I98677209']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5089677089', 'display_name': 'Andrew V. Biankin', 'orcid': 'https://orcid.org/0000-0002-0362-5597'}, 'institutions': [], 'countries': [], 'is_corresponding': False, 'raw_author_name': 'Andrew V. Biankin', 'raw_affiliation_strings': [], 'affiliations': []}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5107833820', 'display_name': 'Susanna L. Cooke', 'orcid': None}, 'institutions': [], 'countries': [], 'is_corresponding': False, 'raw_author_name': 'Susanna L. Cooke', 'raw_affiliation_strings': [], 'affiliations': []}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5025353078', 'display_name': 'Wendy Inglis Humphrey', 'orcid': None}, 'institutions': [], 'countries': [], 'is_corresponding': False, 'raw_author_name': 'Wendy Inglis Humphrey', 'raw_affiliation_strings': [], 'affiliations': []}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5082015865', 'display_name': 'Sancha Martin', 'orcid': 'https://orcid.org/0000-0001-6213-5259'}, 'institutions': [{'id': 'https://openalex.org/I4210158898', 'display_name': 'MRC Institute of Genetics and Molecular Medicine', 'ror': 'https://ror.org/05hygey35', 'country_code': 'GB', 'type': 'facility', 'lineage': ['https://openalex.org/I4210087105', 'https://openalex.org/I4210158898', 'https://openalex.org/I90344618', 'https://openalex.org/I98677209']}, {'id': 'https://openalex.org/I98677209', 'display_name': 'University of Edinburgh', 'ror': 'https://ror.org/01nrxwf90', 'country_code': 'GB', 'type': 'education', 'lineage': ['https://openalex.org/I98677209']}], 'countries': ['GB'], 'is_corresponding': False, 'raw_author_name': 'Sancha Martin', 'raw_affiliation_strings': ['MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK'], 'affiliations': [{'raw_affiliation_string': 'MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK', 'institution_ids': ['https://openalex.org/I4210158898', 'https://openalex.org/I98677209']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5107886019', 'display_name': 'Lynne J. Mennie', 'orcid': None}, 'institutions': [], 'countries': [], 'is_corresponding': False, 'raw_author_name': 'Lynne Mennie', 'raw_affiliation_strings': [], 'affiliations': []}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5080389454', 'display_name': 'Alison Meynert', 'orcid': 'https://orcid.org/0000-0001-5839-1751'}, 'institutions': [], 'countries': [], 'is_corresponding': False, 'raw_author_name': 'Alison Meynert', 'raw_affiliation_strings': [], 'affiliations': []}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5012895580', 'display_name': 'Zosia Miedzybrodzka', 'orcid': 'https://orcid.org/0000-0003-2890-8136'}, 'institutions': [], 'countries': [], 'is_corresponding': False, 'raw_author_name': 'Zosia Miedzybrodzka', 'raw_affiliation_strings': [], 'affiliations': []}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5051007310', 'display_name': 'Fiona Murphy', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I3019103622', 'display_name': "Temple Street Children's University Hospital", 'ror': 'https://ror.org/0527gjc91', 'country_code': 'IE', 'type': 'healthcare', 'lineage': ['https://openalex.org/I3019103622']}], 'countries': ['IE'], 'is_corresponding': False, 'raw_author_name': 'Fiona Murphy', 'raw_affiliation_strings': ['UCD School of Medicine, Children’s University Hospital, Temple St, Dublin, Ireland'], 'affiliations': [{'raw_affiliation_string': 'UCD School of Medicine, Children’s University Hospital, Temple St, Dublin, Ireland', 'institution_ids': ['https://openalex.org/I3019103622']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5075917348', 'display_name': 'Craig Nourse', 'orcid': None}, 'institutions': [], 'countries': [], 'is_corresponding': False, 'raw_author_name': 'Craig Nourse', 'raw_affiliation_strings': [], 'affiliations': []}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5043902224', 'display_name': 'Javier Santoyo‐López', 'orcid': 'https://orcid.org/0000-0003-1988-5059'}, 'institutions': [{'id': 'https://openalex.org/I4210137845', 'display_name': 'Edinburgh Genomics', 'ror': 'https://ror.org/02z3r7t23', 'country_code': 'GB', 'type': 'facility', 'lineage': ['https://openalex.org/I4210137845']}, {'id': 'https://openalex.org/I133960621', 'display_name': 'Roslin Institute', 'ror': 'https://ror.org/01920rj20', 'country_code': 'GB', 'type': 'facility', 'lineage': ['https://openalex.org/I133960621', 'https://openalex.org/I2799693246', 'https://openalex.org/I4210087105', 'https://openalex.org/I98677209']}, {'id': 'https://openalex.org/I98677209', 'display_name': 'University of Edinburgh', 'ror': 'https://ror.org/01nrxwf90', 'country_code': 'GB', 'type': 'education', 'lineage': ['https://openalex.org/I98677209']}], 'countries': ['GB'], 'is_corresponding': False, 'raw_author_name': 'Javier Santoyo-Lopez', 'raw_affiliation_strings': ['Edinburgh Genomics Clinical Division, University of Edinburgh, The Roslin Institute, Edinburgh EH25 9RG, UK'], 'affiliations': [{'raw_affiliation_string': 'Edinburgh Genomics Clinical Division, University of Edinburgh, The Roslin Institute, Edinburgh EH25 9RG, UK', 'institution_ids': ['https://openalex.org/I4210137845', 'https://openalex.org/I133960621', 'https://openalex.org/I98677209']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5034298865', 'display_name': 'Colin A. Semple', 'orcid': 'https://orcid.org/0000-0003-1765-4118'}, 'institutions': [{'id': 'https://openalex.org/I241749', 'display_name': 'University of Cambridge', 'ror': 'https://ror.org/013meh722', 'country_code': 'GB', 'type': 'education', 'lineage': ['https://openalex.org/I241749']}, {'id': 'https://openalex.org/I98677209', 'display_name': 'University of Edinburgh', 'ror': 'https://ror.org/01nrxwf90', 'country_code': 'GB', 'type': 'education', 'lineage': ['https://openalex.org/I98677209']}], 'countries': ['GB'], 'is_corresponding': False, 'raw_author_name': 'Colin A. Semple', 'raw_affiliation_strings': ['Centre for Cardiovascular Science, University of Edinburgh, Edinburgh EH16 4TJ, UK; MRC Metabolic Diseases Unit, University of Cambridge, Cambridge CB2 0QQ, UK'], 'affiliations': [{'raw_affiliation_string': 'Centre for Cardiovascular Science, University of Edinburgh, Edinburgh EH16 4TJ, UK; MRC Metabolic Diseases Unit, University of Cambridge, Cambridge CB2 0QQ, UK', 'institution_ids': ['https://openalex.org/I241749', 'https://openalex.org/I98677209']}]}, {'author_position': 'last', 'author': {'id': 'https://openalex.org/A5007035378', 'display_name': 'Nicola Williams', 'orcid': 'https://orcid.org/0000-0002-7476-9715'}, 'institutions': [], 'countries': [], 'is_corresponding': False, 'raw_author_name': 'Nicola Williams', 'raw_affiliation_strings': [], 'affiliations': []}], 'institution_assertions': [], 'countries_distinct_count': 7, 'institutions_distinct_count': 32, 'corresponding_author_ids': [], 'corresponding_institution_ids': [], 'apc_list': {'value': 5150, 'currency': 'USD', 'value_usd': 5150, 'provenance': 'doaj'}, 'apc_paid': {'value': 4364, 'currency': 'EUR', 'value_usd': 4706, 'provenance': 'openapc'}, 'fwci': 3.24, 'has_fulltext': True, 'fulltext_origin': 'ngrams', 'cited_by_count': 78, 'citation_normalized_percentile': {'value': 0.770185, 'is_in_top_1_percent': False, 'is_in_top_10_percent': False}, 'cited_by_percentile_year': {'min': 97, 'max': 98}, 'biblio': {'volume': '103', 'issue': '6', 'first_page': '1038', 'last_page': '1044'}, 'is_retracted': False, 'is_paratext': False, 'primary_topic': {'id': 'https://openalex.org/T10123', 'display_name': 'DNA Repair Mechanisms', 'score': 0.9987, 'subfield': {'id': 'https://openalex.org/subfields/1312', 'display_name': 'Molecular Biology'}, 'field': {'id': 'https://openalex.org/fields/13', 'display_name': 'Biochemistry, Genetics and Molecular Biology'}, 'domain': {'id': 'https://openalex.org/domains/1', 'display_name': 'Life Sciences'}}, 'topics': [{'id': 'https://openalex.org/T10123', 'display_name': 'DNA Repair Mechanisms', 'score': 0.9987, 'subfield': {'id': 'https://openalex.org/subfields/1312', 'display_name': 'Molecular Biology'}, 'field': {'id': 'https://openalex.org/fields/13', 'display_name': 'Biochemistry, Genetics and Molecular Biology'}, 'domain': {'id': 'https://openalex.org/domains/1', 'display_name': 'Life Sciences'}}, {'id': 'https://openalex.org/T11772', 'display_name': 'Genetics and Neurodevelopmental Disorders', 'score': 0.9959, 'subfield': {'id': 'https://openalex.org/subfields/1311', 'display_name': 'Genetics'}, 'field': {'id': 'https://openalex.org/fields/13', 'display_name': 'Biochemistry, Genetics and Molecular Biology'}, 'domain': {'id': 'https://openalex.org/domains/1', 'display_name': 'Life Sciences'}}, {'id': 'https://openalex.org/T11369', 'display_name': 'Genetic factors in colorectal cancer', 'score': 0.9952, 'subfield': {'id': 'https://openalex.org/subfields/2734', 'display_name': 'Pathology and Forensic Medicine'}, 'field': {'id': 'https://openalex.org/fields/27', 'display_name': 'Medicine'}, 'domain': {'id': 'https://openalex.org/domains/4', 'display_name': 'Health Sciences'}}], 'keywords': [{'id': 'https://openalex.org/keywords/common-variable-immunodeficiency', 'display_name': 'Common Variable Immunodeficiency', 'score': 0.5849324}], 'concepts': [{'id': 'https://openalex.org/C2776433325', 'wikidata': 'https://www.wikidata.org/wiki/Q1472818', 'display_name': 'Common variable immunodeficiency', 'level': 3, 'score': 0.5849324}, {'id': 'https://openalex.org/C2777607303', 'wikidata': 'https://www.wikidata.org/wiki/Q641307', 'display_name': 'Immunodeficiency', 'level': 3, 'score': 0.4951779}, {'id': 'https://openalex.org/C82381507', 'wikidata': 'https://www.wikidata.org/wiki/Q416878', 'display_name': 'Polymerase', 'level': 3, 'score': 0.47022533}, {'id': 'https://openalex.org/C2756471', 'wikidata': 'https://www.wikidata.org/wiki/Q206286', 'display_name': 'DNA polymerase', 'level': 3, 'score': 0.45519224}, {'id': 'https://openalex.org/C552990157', 'wikidata': 'https://www.wikidata.org/wiki/Q7430', 'display_name': 'DNA', 'level': 2, 'score': 0.44291556}, {'id': 'https://openalex.org/C159047783', 'wikidata': 'https://www.wikidata.org/wiki/Q7215', 'display_name': 'Virology', 'level': 1, 'score': 0.36079645}, {'id': 'https://openalex.org/C86803240', 'wikidata': 'https://www.wikidata.org/wiki/Q420', 'display_name': 'Biology', 'level': 0, 'score': 0.31050122}, {'id': 'https://openalex.org/C54355233', 'wikidata': 'https://www.wikidata.org/wiki/Q7162', 'display_name': 'Genetics', 'level': 1, 'score': 0.2894011}, {'id': 'https://openalex.org/C159654299', 'wikidata': 'https://www.wikidata.org/wiki/Q79460', 'display_name': 'Antibody', 'level': 2, 'score': 0.05660987}, {'id': 'https://openalex.org/C8891405', 'wikidata': 'https://www.wikidata.org/wiki/Q1059', 'display_name': 'Immune system', 'level': 2, 'score': 0.0}], 'mesh': [{'descriptor_ui': 'D000309', 'descriptor_name': 'Adrenal Insufficiency', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': True}, {'descriptor_ui': 'D004257', 'descriptor_name': 'DNA Polymerase II', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': True}, {'descriptor_ui': 'D005317', 'descriptor_name': 'Fetal Growth Retardation', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': True}, {'descriptor_ui': 'D009154', 'descriptor_name': 'Mutation', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': True}, {'descriptor_ui': 'D010009', 'descriptor_name': 'Osteochondrodysplasias', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': True}, {'descriptor_ui': 'D000075223', 'descriptor_name': 'Poly-ADP-Ribose Binding Proteins', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': True}, {'descriptor_ui': 'D014564', 'descriptor_name': 'Urogenital Abnormalities', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': True}, {'descriptor_ui': 'D000293', 'descriptor_name': 'Adolescent', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D000309', 'descriptor_name': 'Adrenal Insufficiency', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D000328', 'descriptor_name': 'Adult', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D000483', 'descriptor_name': 'Alleles', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D002648', 'descriptor_name': 'Child', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D002675', 'descriptor_name': 'Child, Preschool', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D050761', 'descriptor_name': 'Cyclin-Dependent Kinase Inhibitor p57', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D050761', 'descriptor_name': 'Cyclin-Dependent Kinase Inhibitor p57', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': False}, {'descriptor_ui': 'D004257', 'descriptor_name': 'DNA Polymerase II', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D004261', 'descriptor_name': 'DNA Replication', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': False}, {'descriptor_ui': 'D004261', 'descriptor_name': 'DNA Replication', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D005260', 'descriptor_name': 'Female', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D005317', 'descriptor_name': 'Fetal Growth Retardation', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D006801', 'descriptor_name': 'Humans', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D007223', 'descriptor_name': 'Infant', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D008297', 'descriptor_name': 'Male', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D008875', 'descriptor_name': 'Middle Aged', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D009154', 'descriptor_name': 'Mutation', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D010009', 'descriptor_name': 'Osteochondrodysplasias', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D010641', 'descriptor_name': 'Phenotype', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D000075223', 'descriptor_name': 'Poly-ADP-Ribose Binding Proteins', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D014564', 'descriptor_name': 'Urogenital Abnormalities', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D055815', 'descriptor_name': 'Young Adult', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}], 'locations_count': 9, 'locations': [{'is_oa': True, 'landing_page_url': 'https://doi.org/10.1016/j.ajhg.2018.10.024', 'pdf_url': 'https://www.cell.com/article/S0002929718304002/pdf', 'source': {'id': 'https://openalex.org/S134425043', 'display_name': 'The American Journal of Human Genetics', 'issn_l': '0002-9297', 'issn': ['0002-9297', '1537-6605'], 'is_oa': False, 'is_in_doaj': False, 'is_core': True, 'host_organization': 'https://openalex.org/P4310320990', 'host_organization_name': 'Elsevier BV', 'host_organization_lineage': ['https://openalex.org/P4310320990'], 'host_organization_lineage_names': ['Elsevier BV'], 'type': 'journal'}, 'license': 'cc-by-nc-nd', 'license_id': 'https://openalex.org/licenses/cc-by-nc-nd', 'version': 'publishedVersion', 'is_accepted': True, 'is_published': True}, {'is_oa': False, 'landing_page_url': 'https://hal.science/hal-04026616', 'pdf_url': None, 'source': None, 'license': None, 'license_id': None, 'version': None, 'is_accepted': False, 'is_published': False}, {'is_oa': True, 'landing_page_url': 'https://europepmc.org/articles/pmc6288413', 'pdf_url': 'https://europepmc.org/articles/pmc6288413?pdf=render', 'source': {'id': 'https://openalex.org/S4306400806', 'display_name': 'Europe PMC (PubMed Central)', 'issn_l': None, 'issn': None, 'is_oa': True, 'is_in_doaj': False, 'is_core': False, 'host_organization': 'https://openalex.org/I1303153112', 'host_organization_name': 'European Bioinformatics Institute', 'host_organization_lineage': ['https://openalex.org/I1303153112'], 'host_organization_lineage_names': ['European Bioinformatics Institute'], 'type': 'repository'}, 'license': 'cc-by-nc-nd', 'license_id': 'https://openalex.org/licenses/cc-by-nc-nd', 'version': 'publishedVersion', 'is_accepted': True, 'is_published': True}, {'is_oa': True, 'landing_page_url': 'http://hdl.handle.net/11343/250361', 'pdf_url': 'http://minerva-access.unimelb.edu.au/bitstreams/6cf5d655-387c-5013-b1f5-6f52d5f71617/download', 'source': {'id': 'https://openalex.org/S4377196259', 'display_name': 'Minerva Access (University of Melbourne)', 'issn_l': None, 'issn': None, 'is_oa': False, 'is_in_doaj': False, 'is_core': False, 'host_organization': 'https://openalex.org/I165779595', 'host_organization_name': 'University of Melbourne', 'host_organization_lineage': ['https://openalex.org/I165779595'], 'host_organization_lineage_names': ['University of Melbourne'], 'type': 'repository'}, 'license': 'cc-by-nc-nd', 'license_id': 'https://openalex.org/licenses/cc-by-nc-nd', 'version': 'publishedVersion', 'is_accepted': True, 'is_published': True}, {'is_oa': True, 'landing_page_url': 'https://hdl.handle.net/20.500.11820/a5b9ba45-d8e4-483e-867c-a0708daa62f5', 'pdf_url': 'https://www.pure.ed.ac.uk/ws/files/77516076/1_s2.0_S0002929718304002_main.pdf', 'source': {'id': 'https://openalex.org/S4306400321', 'display_name': 'Edinburgh Research Explorer (University of Edinburgh)', 'issn_l': None, 'issn': None, 'is_oa': True, 'is_in_doaj': False, 'is_core': False, 'host_organization': 'https://openalex.org/I98677209', 'host_organization_name': 'University of Edinburgh', 'host_organization_lineage': ['https://openalex.org/I98677209'], 'host_organization_lineage_names': ['University of Edinburgh'], 'type': 'repository'}, 'license': 'cc-by-nc-nd', 'license_id': 'https://openalex.org/licenses/cc-by-nc-nd', 'version': 'publishedVersion', 'is_accepted': True, 'is_published': True}, {'is_oa': True, 'landing_page_url': 'https://figshare.com/articles/journal_contribution/DNA_polymerase_epsilon_deficiency_causes_IMAGe_syndrome_with_variable_immunodeficiency/12854978', 'pdf_url': 'https://figshare.com/articles/journal_contribution/DNA_polymerase_epsilon_deficiency_causes_IMAGe_syndrome_with_variable_immunodeficiency/12854978/1/files/24426158.pdf', 'source': {'id': 'https://openalex.org/S4306402621', 'display_name': 'INDIGO (University of Illinois at Chicago)', 'issn_l': None, 'issn': None, 'is_oa': True, 'is_in_doaj': False, 'is_core': False, 'host_organization': 'https://openalex.org/I39422238', 'host_organization_name': 'University of Illinois Chicago', 'host_organization_lineage': ['https://openalex.org/I39422238'], 'host_organization_lineage_names': ['University of Illinois Chicago'], 'type': 'repository'}, 'license': 'cc-by-nc-nd', 'license_id': 'https://openalex.org/licenses/cc-by-nc-nd', 'version': 'publishedVersion', 'is_accepted': True, 'is_published': True}, {'is_oa': True, 'landing_page_url': 'https://www.repository.cam.ac.uk/handle/1810/294780', 'pdf_url': 'https://www.repository.cam.ac.uk/bitstream/1810/294780/1/DNA%20Polymerase%20Epsilon%20Deficiency%20Causes%20IMAGe%20Syndrome%20with%20Variable%20Immunodeficiency.pdf', 'source': {'id': 'https://openalex.org/S4306401777', 'display_name': 'Apollo (University of Cambridge)', 'issn_l': None, 'issn': None, 'is_oa': True, 'is_in_doaj': False, 'is_core': False, 'host_organization': 'https://openalex.org/I241749', 'host_organization_name': 'University of Cambridge', 'host_organization_lineage': ['https://openalex.org/I241749'], 'host_organization_lineage_names': ['University of Cambridge'], 'type': 'repository'}, 'license': 'cc-by-nc-nd', 'license_id': 'https://openalex.org/licenses/cc-by-nc-nd', 'version': 'publishedVersion', 'is_accepted': True, 'is_published': True}, {'is_oa': True, 'landing_page_url': 'https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6288413', 'pdf_url': None, 'source': {'id': 'https://openalex.org/S2764455111', 'display_name': 'PubMed Central', 'issn_l': None, 'issn': None, 'is_oa': True, 'is_in_doaj': False, 'is_core': False, 'host_organization': 'https://openalex.org/I1299303238', 'host_organization_name': 'National Institutes of Health', 'host_organization_lineage': ['https://openalex.org/I1299303238'], 'host_organization_lineage_names': ['National Institutes of Health'], 'type': 'repository'}, 'license': None, 'license_id': None, 'version': 'publishedVersion', 'is_accepted': True, 'is_published': True}, {'is_oa': False, 'landing_page_url': 'https://pubmed.ncbi.nlm.nih.gov/30503519', 'pdf_url': None, 'source': {'id': 'https://openalex.org/S4306525036', 'display_name': 'PubMed', 'issn_l': None, 'issn': None, 'is_oa': False, 'is_in_doaj': False, 'is_core': False, 'host_organization': 'https://openalex.org/I1299303238', 'host_organization_name': 'National Institutes of Health', 'host_organization_lineage': ['https://openalex.org/I1299303238'], 'host_organization_lineage_names': ['National Institutes of Health'], 'type': 'repository'}, 'license': None, 'license_id': None, 'version': None, 'is_accepted': False, 'is_published': False}], 'best_oa_location': {'is_oa': True, 'landing_page_url': 'https://doi.org/10.1016/j.ajhg.2018.10.024', 'pdf_url': 'https://www.cell.com/article/S0002929718304002/pdf', 'source': {'id': 'https://openalex.org/S134425043', 'display_name': 'The American Journal of Human Genetics', 'issn_l': '0002-9297', 'issn': ['0002-9297', '1537-6605'], 'is_oa': False, 'is_in_doaj': False, 'is_core': True, 'host_organization': 'https://openalex.org/P4310320990', 'host_organization_name': 'Elsevier BV', 'host_organization_lineage': ['https://openalex.org/P4310320990'], 'host_organization_lineage_names': ['Elsevier BV'], 'type': 'journal'}, 'license': 'cc-by-nc-nd', 'license_id': 'https://openalex.org/licenses/cc-by-nc-nd', 'version': 'publishedVersion', 'is_accepted': True, 'is_published': True}, 'sustainable_development_goals': [{'id': 'https://metadata.un.org/sdg/3', 'display_name': 'Good health and well-being', 'score': 0.55}], 'grants': [{'funder': 'https://openalex.org/F4320311904', 'funder_display_name': 'Wellcome Trust', 'award_id': '210752/Z/18/Z'}, {'funder': 'https://openalex.org/F4320312060', 'funder_display_name': 'Francis Crick Institute', 'award_id': None}, {'funder': 'https://openalex.org/F4320319985', 'funder_display_name': 'Cancer Research UK', 'award_id': 'FC0010048'}, {'funder': 'https://openalex.org/F4320334626', 'funder_display_name': 'Medical Research Council', 'award_id': 'FC0010048'}, {'funder': 'https://openalex.org/F4320334678', 'funder_display_name': 'European Research Council', 'award_id': '281847'}], 'datasets': [], 'versions': [], 'referenced_works_count': 28, 'referenced_works': ['https://openalex.org/W1044944770', 'https://openalex.org/W1487147936', 'https://openalex.org/W1579841204', 'https://openalex.org/W1594385204', 'https://openalex.org/W1972241389', 'https://openalex.org/W1995023992', 'https://openalex.org/W2003696878', 'https://openalex.org/W2016247337', 'https://openalex.org/W2020309820', 'https://openalex.org/W2066534789', 'https://openalex.org/W2066773152', 'https://openalex.org/W2072840521', 'https://openalex.org/W2083158919', 'https://openalex.org/W2089520855', 'https://openalex.org/W2096908869', 'https://openalex.org/W2098762271', 'https://openalex.org/W2113439247', 'https://openalex.org/W2145606954', 'https://openalex.org/W2146501164', 'https://openalex.org/W2170180220', 'https://openalex.org/W2186665517', 'https://openalex.org/W2212342729', 'https://openalex.org/W2256016639', 'https://openalex.org/W2262414037', 'https://openalex.org/W2466381441', 'https://openalex.org/W2566002255', 'https://openalex.org/W2607340904', 'https://openalex.org/W2800442359'], 'related_works': ['https://openalex.org/W4385174640', 'https://openalex.org/W4298176310', 'https://openalex.org/W4241584186', 'https://openalex.org/W2415950438', 'https://openalex.org/W2398277866', 'https://openalex.org/W2171606166', 'https://openalex.org/W2077167296', 'https://openalex.org/W2074011169', 'https://openalex.org/W2025141018', 'https://openalex.org/W1795570136'], 'abstract_inverted_index': {'During': [0, 191], 'genome': [1, 192], 'replication,': [2, 193], 'polymerase': [3, 194, 405, 460, 570, 1338, 2071, 2287, 2480, 2613, 2671, 2692, 3093, 3238, 3564], 'epsilon': [4, 195, 418], '(Pol': [5, 196, 419], 'ε)': [6, 197, 420], 'acts': [7, 198], 'as': [8, 94, 134, 171, 199, 285, 325, 362, 710, 1472, 1547, 2998, 3824, 3887, 3889], 'the': [9, 17, 25, 89, 115, 183, 188, 200, 208, 216, 280, 306, 374, 379, 392, 414, 422, 427, 430, 473, 487, 525, 703, 738, 779, 783, 833, 948, 1069, 1072, 1096, 1133, 1285, 1337, 1341, 1468, 1500, 1543, 1575, 1688, 1714, 1874, 1951, 2143, 2170, 2188, 2205, 2210, 2312, 2316, 2341, 2386, 2389, 2395, 2402, 2440, 2476, 2479, 2489, 2534, 2574, 2584, 2624, 2663, 2667, 2686, 2745, 2916, 2942, 3003, 3018, 3048, 3234, 3285, 3381, 3432, 3444, 3454, 3481, 3700, 3807, 3885, 3940, 3990, 4031, 4035, 4085, 4204, 4208, 4216, 4222, 4236, 4288, 4298, 4307, 4358, 4390, 4407, 4420, 4428, 4441, 4444, 4451, 4455, 4463, 4477, 4484, 4509, 4520, 4525], 'major': [10, 201, 423, 2668], 'leading-strand': [11, 202, 2669], 'DNA': [12, 157, 203, 348, 382, 403, 437, 459, 1394, 2080, 2296, 2438, 2612, 2670, 2691, 2699, 3213, 3237, 3531, 3557, 3563], 'polymerase.': [13, 204], 'Here': [14, 205], 'we': [15, 131, 206, 322, 959, 2581, 2993], 'report': [16, 207], 'identification': [18, 209, 3808], 'of': [19, 83, 96, 122, 151, 187, 210, 274, 287, 313, 342, 378, 395, 429, 476, 490, 528, 625, 659, 679, 702, 713, 782, 832, 976, 1038, 1107, 1111, 1120, 1143, 1174, 1272, 1298, 1340, 1377, 1418, 1474, 1499, 1549, 1574, 1592, 1690, 1713, 1729, 1745, 1873, 1950, 2130, 2191, 2209, 2343, 2359, 2361, 2378, 2388, 2401, 2413, 2433, 2436, 2478, 2501, 2506, 2536, 2561, 2632, 2657, 2666, 2677, 2688, 2711, 2720, 2730, 2810, 2842, 2855, 2945, 2972, 2996, 3002, 3021, 3051, 3148, 3182, 3233, 3343, 3384, 3411, 3447, 3497, 3524, 3530, 3809, 3812, 3827, 3933, 3942, 4034, 4084, 4207, 4232, 4235, 4275, 4283, 4427, 4431, 4443, 4454, 4524], 'biallelic': [20, 116, 211, 307, 2192, 3743, 3955], 'mutations': [21, 67, 117, 140, 155, 212, 258, 308, 331, 346, 485, 523, 576, 614, 2194, 2645, 2914, 2995, 3007, 3015, 3046, 3099, 3137, 3201, 3348, 3581, 3744, 3816, 3959], 'in': [22, 31, 59, 68, 100, 106, 138, 156, 213, 222, 250, 259, 291, 297, 329, 347, 411, 577, 615, 695, 737, 776, 826, 925, 991, 1005, 1042, 1068, 1084, 1093, 1099, 1117, 1147, 1155, 1165, 1282, 1288, 1302, 1381, 1397, 1461, 1483, 1491, 1496, 1504, 1508, 1512, 1536, 1558, 1566, 1571, 1579, 1583, 1602, 1641, 1700, 1726, 1735, 1801, 1839, 1852, 1891, 1916, 1929, 1972, 2023, 2097, 2116, 2136, 2202, 2239, 2420, 2439, 2444, 2494, 2563, 2591, 2607, 2635, 2641, 2698, 2827, 2832, 2848, 2915, 2941, 2978, 3100, 3138, 3255, 3289, 3380, 3417, 3443, 3582, 3607, 3659, 3699, 3893, 3913, 3919, 3960, 3963, 3989, 4028, 4078, 4131, 4414], 'POLE,': [23, 214], 'encoding': [24, 215, 778, 1322, 4030], 'Pol': [26, 123, 217, 314, 477, 2672, 2689, 2746, 2835, 2844, 3472, 4227], 'ε': [27, 124, 218, 315, 478, 571, 2690, 2747, 2836, 2845, 3094, 3473], 'catalytic': [28, 219, 474, 2481, 2664], 'subunit': [29, 220, 475, 781, 2665, 4033], 'POLE1,': [30, 221, 2662], '15': [32, 223, 2339, 2363, 2405], 'individuals': [33, 39, 71, 224, 230, 262, 954, 978, 1156, 1289, 1304, 1587, 1671, 1842, 1919, 2095, 3257, 3813], 'from': [34, 225, 1178, 2180, 2196, 2328, 2505, 2509, 2715, 2814, 2823, 2852, 4287, 4361, 4472], '12': [35, 226, 1670], 'families.': [36, 227], 'Phenotypically,': [37, 228, 1585], 'these': [38, 170, 229, 361, 1064, 3820], 'had': [40, 231, 1152, 1588, 1647, 1672, 1679, 2101, 2142, 2169], 'clinical': [41, 232, 1141, 1694, 1885, 1962, 2075, 2291, 2576], 'features': [42, 76, 233, 267, 2076, 2292, 3821], 'closely': [43, 234], 'resembling': [44, 235, 791, 4043], 'IMAGe': [45, 142, 236, 333, 1144, 1175, 1212, 1243, 1697, 1746, 2197, 2597, 2902, 2948, 2981, 3004, 3198, 3347, 3387, 3420, 3486, 4577], 'syndrome': [46, 237, 1145, 1176, 1698, 1996, 2026, 2198, 2242, 2903, 3487, 3937], '(intrauterine': [47, 238], 'growth': [48, 162, 239, 353, 682, 687, 882, 928, 1590, 1827, 1904, 2799, 3610, 3753, 3787, 3891], 'restriction': [49, 163, 240, 354], '[IUGR],': [50, 241], 'metaphyseal': [51, 242, 1832, 1909], 'dysplasia,': [52, 243], 'adrenal': [53, 165, 244, 356, 930, 1161, 1215, 1250, 1673, 1847, 1924, 3612, 3650, 3736, 3924], 'hypoplasia': [54, 245], 'congenita,': [55, 246], 'and': [56, 77, 113, 125, 174, 247, 268, 304, 316, 365, 408, 450, 480, 482, 497, 530, 536, 572, 612, 628, 633, 662, 691, 839, 887, 932, 968, 1078, 1109, 1132, 1158, 1168, 1222, 1251, 1254, 1478, 1553, 1662, 1675, 1710, 1720, 1743, 1887, 1964, 1984, 1991, 2032, 2077, 2123, 2139, 2150, 2207, 2248, 2293, 2382, 2527, 2540, 2566, 2717, 2776, 2804, 2825, 2886, 3012, 3053, 3059, 3095, 3135, 3151, 3156, 3185, 3199, 3275, 3319, 3479, 3505, 3558, 3614, 3654, 3673, 3727, 3734, 3757, 3792, 3836, 3867, 3916, 3947, 3966, 4091, 4218, 4226, 4270, 4277, 4300, 4305, 4310, 4319, 4335, 4389, 4406, 4446, 4483, 4497, 4502, 4531, 4541, 4560, 4563, 4573], 'genitourinary': [57, 248, 1680, 1850, 1856, 1927, 1933], 'anomalies': [58, 249, 1857, 1934], 'males),': [60, 251], 'a': [61, 97, 135, 148, 176, 252, 288, 326, 339, 367, 385, 677, 1010, 1079, 1140, 1245, 1299, 1318, 1323, 1329, 1458, 1475, 1513, 1533, 1550, 1642, 1648, 1727, 1892, 2024, 2240, 2344, 2414, 2445, 2485, 2592, 2734, 2975, 3251, 3268, 3414, 3489, 3498, 3525, 3810, 3825, 3903, 4377, 4488], 'disorder': [62, 253, 1247, 1406], 'previously': [63, 254, 1193, 1975, 2211, 2905], 'associated': [64, 255, 494, 1980, 3724, 3750], 'with': [65, 81, 102, 256, 272, 293, 495, 618, 885, 927, 979, 1095, 1160, 1211, 1284, 1401, 1463, 1538, 1613, 1652, 1687, 1732, 1740, 1981, 2027, 2070, 2079, 2108, 2204, 2243, 2286, 2295, 2484, 2555, 2573, 2601, 2643, 2702, 2980, 3009, 3141, 3419, 3471, 3484, 3609, 3725, 3733, 3741, 3751, 3790, 3814, 4179, 4215, 4312, 4328, 4549], 'gain-of-function': [66, 257, 2913, 2976, 3415], 'CDKN1C.': [69, 260], 'POLE1-deficient': [70, 261, 3256, 3894], 'also': [72, 263, 1163, 1628, 2100, 2427, 2467, 2794, 3284, 3952], 'exhibited': [73, 264], 'distinctive': [74, 265], 'facial': [75, 266, 1650, 2028, 2244], 'variable': [78, 269], 'immune': [79, 270], 'dysfunction': [80, 166, 271, 357], 'evidence': [82, 273], 'lymphocyte': [84, 275, 2109, 2807], 'deficiency.': [85, 276], 'All': [86, 277, 1345, 1455, 1530, 3345], 'subjects': [87, 278, 993, 1126, 1456, 1531, 1605, 1692, 2330, 2511, 2539, 3915], 'shared': [88, 279, 1476, 1551], 'same': [90, 281, 2171], 'intronic': [91, 109, 282, 300, 1082, 1286, 1465, 1540, 1969, 2437], 'variant': [92, 110, 283, 301, 1083, 1135, 1287, 1295, 1320, 1466, 1541, 1970, 2314, 2397, 2441], '(c.1686+32C>G)': [93, 284], 'part': [95, 286, 1297, 1473, 1548, 2360], 'common': [98, 289, 1300, 1649], 'haplotype,': [99, 290], 'combination': [101, 292, 1462, 1537], 'different': [103, 294], 'loss-of-function': [104, 295, 988, 1459, 1534], 'variants': [105, 296, 990, 1001, 1065, 1280, 1346, 1501, 1576, 2587], 'trans.': [107, 298], 'The': [108, 299, 1293, 2431, 4273, 4394, 4437, 4513, 4532], 'alters': [111, 302], 'splicing,': [112, 303], 'together': [114, 305, 2572], 'lead': [118, 309, 2449, 2651], 'to': [119, 147, 154, 181, 310, 338, 345, 372, 390, 533, 956, 964, 1009, 1332, 1480, 1555, 1865, 1942, 1978, 2104, 2199, 2354, 2357, 2375, 2383, 2410, 2450, 2533, 2542, 2650, 2652, 2683, 2839, 2908, 3056, 3204, 3211, 3216, 3556, 3562, 3748, 4202, 4357], 'cellular': [120, 311, 387, 4217], 'deficiency': [121, 312, 880, 924, 2073, 2289, 2732, 2837, 3336, 3606, 3658, 3760, 3785], 'delayed': [126, 317, 2708], 'S-phase': [127, 318, 2722], 'progression.': [128, 319], 'In': [129, 320, 398, 1316, 2599], 'summary,': [130, 321], 'establish': [132, 323, 2186, 2310, 2994], 'POLE': [133, 324, 471, 529, 985, 1085, 1108, 1278, 1410, 1736, 1973, 2174, 2193, 2317, 2337, 2365, 2586, 2606, 2660, 2818, 2997, 3052, 3259, 3815], 'second': [136, 327, 1080, 2490], 'gene': [137, 328, 3702, 4135], 'which': [139, 330, 2350, 2447, 2740, 4467], 'cause': [141, 332, 741, 787, 2947, 3001, 3386, 3993, 4039, 4137], 'syndrome.': [143, 334, 2598], 'These': [144, 335, 999, 1190, 3006], 'findings': [145, 336, 2185], 'add': [146, 337], 'growing': [149, 340], 'list': [150, 341], 'disorders': [152, 343, 683, 3829], 'due': [153, 344, 2356], 'replication': [158, 349, 383, 415, 438, 704, 2849, 2857, 3214, 3475, 3964, 4210], 'genes': [159, 350, 967, 3961], 'that': [160, 351, 2187, 2394, 2471, 2513, 2583, 2831, 3016, 3502, 3817], 'manifest': [161, 352], 'alongside': [164, 355, 2817, 3730], 'and/or': [167, 358, 622, 1685, 2112, 3145], 'immunodeficiency,': [168, 359, 1861, 1938, 1982, 1989, 2030, 2146, 2201, 2246, 3731], 'consolidating': [169, 360], 'replisome': [172, 363, 3899], 'phenotypes': [173, 364], 'highlighting': [175, 366], 'need': [177, 368], 'for': [178, 369, 426, 630, 951, 1129, 1218, 1696, 1883, 1960, 2460, 2525, 2549, 2605, 2744, 3153, 4221, 4302, 4322, 4326, 4340, 4347, 4404, 4423, 4539], 'future': [179, 370], 'studies': [180, 371, 963, 2320, 3496, 4201], 'understand': [182, 373, 4203], 'tissue-specific': [184, 375], 'development': [185, 376], 'roles': [186, 377], 'encoded': [189, 380, 4209], 'proteins.': [190, 381], 'is': [384, 421, 451, 2741, 3508, 3927, 3951, 4397, 4439, 4460, 4506, 4517], 'fundamental': [386], 'process': [388], 'necessary': [389], 'ensure': [391], 'faithful': [393], 'transmission': [394], 'genetic': [396, 631, 1040, 1379, 3154, 4289], 'information.': [397], 'eukaryotes,': [399], 'three': [400, 992, 1101, 1192], 'highly': [401], 'conserved': [402, 1331], 'polymerases,': [404], 'epsilon,': [406], 'delta,': [407], 'alpha,': [409], 'act': [410], 'concert': [412], 'at': [413, 1328, 2177, 2475, 3272, 3280, 3474, 3528, 4280], 'fork.': [416], 'Polymerase': [417], 'enzyme': [424], 'responsible': [425], 'synthesis': [428], 'leading': [431, 2409, 3210], 'strand1Burgers': [432], 'P.M.J.': [433], 'Kunkel': [434, 3228], 'T.A.': [435, 3229], 'Eukaryotic': [436], 'fork.Annu.': [439], 'Rev.': [440], 'Biochem.': [441, 462, 2615], '2017;': [442, 893, 3798], '86:': [443], '417-438Crossref': [444], 'PubMed': [445, 466, 542, 585, 644, 668, 748, 798, 852, 896, 942, 1048, 1232, 1266, 1387, 2042, 2088, 2258, 2304, 2619, 2787, 2897, 2954, 2987, 3065, 3108, 3167, 3191, 3245, 3330, 3393, 3426, 3463, 3538, 3571, 3624, 3666, 3717, 3801, 3878, 4000, 4050, 4104, 4144, 4193], 'Scopus': [446, 467, 543, 586, 645, 669, 749, 799, 853, 897, 943, 1049, 1233, 1267, 1388, 2043, 2089, 2259, 2305, 2620, 2788, 2898, 2955, 2988, 3066, 3109, 3168, 3192, 3246, 3331, 3394, 3427, 3464, 3539, 3572, 3625, 3667, 3718, 3802, 3879, 4001, 4051, 4105, 4145, 4194], '(262)': [447], 'Google': [448, 469, 545, 588, 647, 671, 751, 801, 855, 899, 945, 1051, 1235, 1269, 1390, 2045, 2091, 2261, 2307, 2622, 2790, 2900, 2957, 2990, 3068, 3111, 3170, 3194, 3248, 3333, 3396, 3429, 3466, 3541, 3574, 3627, 3669, 3720, 3804, 3881, 4003, 4053, 4107, 4147, 4196], 'Scholar': [449, 470, 672, 946, 1052, 1270, 2092, 2308, 2623, 2791, 2901, 2991, 3195, 3249, 3334, 3430, 3467, 3575, 3670, 3721, 3805, 3882, 4197], 'consequently': [452], 'an': [453, 829, 1182, 1402, 1464, 1539, 2158, 2602, 2999, 3340, 4081], 'essential': [454, 2603], 'gene.2Hogg': [455], 'M.': [456, 560, 593, 599, 732, 773, 806, 1015, 1206, 1354, 2012, 2058, 2228, 2274, 2609, 2966, 3083, 3116, 3122, 3405, 3984, 4025, 4058, 4112, 4120, 4124, 4126, 4168], 'Johansson': [457, 2610, 3226], 'E.': [458, 506, 516, 554, 609, 1023, 1362, 2064, 2280, 2611, 2759, 2869, 3029, 3039, 3077, 3132, 3227, 3302, 3441, 3634, 3850, 4324], 'ε.Subcell.': [461, 2614], '2012;': [463, 665, 939, 2039, 2255, 2616, 2951, 3188, 3390, 3621, 3663], '62:': [464, 2617], '237-257Crossref': [465, 2618], '(26)': [468, 2621, 3573], 'encodes': [472, 2661], '(POLE1),': [479], 'somatic': [481, 3013], 'germline': [483, 3011], 'missense': [484, 1319], 'affecting': [486, 524, 1248, 3047], 'proofreading': [488, 526, 3049], 'domain': [489, 575, 1339, 2944, 3020, 3098, 3383], 'POLE1': [491, 2495, 2514, 2562, 2634, 2678, 2731, 3335], 'have': [492, 707, 3205, 3722, 3745, 3902], 'been': [493, 708, 1153, 1976, 2738, 2906, 3723, 3746], 'colon': [496, 661, 3184], 'endometrial': [498, 578, 3101], 'cancer.3Palles': [499], 'C.': [500, 552, 764, 904, 914, 916, 918, 2016, 2050, 2232, 2266, 2753, 2863, 3023, 3075, 3296, 3515, 3586, 3596, 3598, 3600, 3642, 3844, 4016, 4118], 'Cazier': [501, 3024], 'J.B.': [502, 3025], 'Howarth': [503, 563, 3026, 3086], 'K.M.': [504, 564, 3027, 3087], 'Domingo': [505, 553, 3028, 3076], 'Jones': [507, 3030], 'A.M.': [508, 3031], 'Broderick': [509, 3032], 'P.': [510, 768, 2008, 2014, 2224, 2230, 3033, 4020], 'Kemp': [511, 3034], 'Z.': [512, 3035], 'Spain': [513, 3036], 'S.L.': [514, 3037], 'Guarino': [515, 3038], 'Salguero': [517, 3040], 'I.': [518, 2048, 2264, 2938, 3041, 3377], 'et': [519, 567, 610, 735, 774, 823, 877, 921, 1034, 1373, 2019, 2067, 2235, 2283, 2768, 2878, 2939, 3042, 3090, 3133, 3311, 3378, 3603, 3695, 3782, 3859, 3987, 4026, 4075, 4129, 4169], 'al.CORGI': [520, 3043], 'ConsortiumWGS500': [521, 3044], 'ConsortiumGermline': [522, 3045], 'domains': [527, 3050], 'POLD1': [531, 613, 3054, 3136], 'predispose': [532, 3055], 'colorectal': [534, 620, 3057, 3143], 'adenomas': [535, 3058], 'carcinomas.Nat.': [537, 3060], 'Genet.': [538, 581, 744, 794, 843, 1227, 2084, 2300, 2950, 3061, 3104, 3389, 3996, 4046, 4095, 4140, 4184], '2013;': [539, 582, 2984, 3062, 3105, 3423], '45:': [540, 3063], '136-144Crossref': [541, 3064], '(707)': [544, 3067], 'Scholar,': [546, 589, 648, 752, 802, 856, 900, 1236, 2046, 2262, 2958, 3069, 3112, 3171, 3397, 3542, 3628, 4004, 4054, 4108, 4148], '4Church': [547, 3070], 'D.N.': [548, 3071], 'Briggs': [549, 3072], 'S.E.': [550, 3073], 'Palles': [551, 3074], 'Kearsey': [555, 3078], 'S.J.': [556, 818, 3079, 4070], 'Grimes': [557, 3080], 'J.M.': [558, 3081], 'Gorman': [559, 3082], 'Martin': [561, 765, 3084, 4017], 'L.': [562, 812, 872, 902, 2018, 2060, 2234, 2276, 3085, 3513, 3584, 3632, 3777, 4064, 4248], 'Hodgson': [565, 3088], 'S.V.': [566, 3089], 'al.NSECG': [568, 3091], 'CollaboratorsDNA': [569, 3092], 'δ': [573, 3096], 'exonuclease': [574, 3019, 3097], 'cancer.Hum.': [579, 3102], 'Mol.': [580, 3103], '22:': [583, 3106], '2820-2828Crossref': [584, 3107], '(252)': [587, 3110], '5Bellido': [590, 3113], 'F.': [591, 808, 866, 2010, 2226, 3114, 3675, 3692, 3771, 4060], 'Pineda': [592, 3115], 'Aiza': [594, 3117], 'G.': [595, 2066, 2282, 2765, 2875, 3118, 3308, 3856], 'Valdés-Mas': [596, 3119], 'R.': [597, 1208, 1240, 2002, 2218, 2749, 2859, 2924, 3120, 3292, 3363, 3686, 3840], 'Navarro': [598, 3121], 'Puente': [600, 3123], 'D.A.': [601, 3124], 'Pons': [602, 3125], 'T.': [603, 760, 870, 1025, 1364, 3126, 3775, 4012], 'González': [604, 3127], 'S.': [605, 607, 722, 728, 756, 920, 2964, 2968, 3128, 3130, 3403, 3407, 3602, 3694, 3974, 3980, 4008, 4116, 4122], 'Iglesias': [606, 3129], 'Darder': [608, 3131], 'al.POLE': [611, 3134], '529': [616, 3139], 'kindred': [617, 3140], 'familial': [619, 3142], 'cancer': [621, 3144, 3200, 3253], 'polyposis:': [623, 3146], 'review': [624, 3147], 'reported': [626, 1164, 1838, 1915, 1977, 2212, 3149, 3747, 4413], 'cases': [627, 1119, 1173, 2834, 3150], 'recommendations': [629, 3152], 'testing': [632, 3155, 4290], 'surveillance.Genet.': [634, 3157], 'Med.': [635, 1226, 2038, 2083, 2254, 2299, 3158], '2016;': [636, 844, 1045, 1384, 3159, 3709, 4096], '18:': [637, 3160], '325-332Abstract': [638, 3161], 'Full': [639, 641, 847, 849, 1261, 1263, 2782, 2784, 2892, 2894, 3162, 3164, 3325, 3327, 3712, 3714, 3873, 3875, 4099, 4101, 4188, 4190], 'Text': [640, 642, 848, 850, 1262, 1264, 2783, 2785, 2893, 2895, 3163, 3165, 3326, 3328, 3713, 3715, 3874, 3876, 4100, 4102, 4189, 4191], 'PDF': [643, 851, 1265, 2786, 2896, 3166, 3329, 3716, 3877, 4103, 4192], '(172)': [646, 3169], '6Cancer': [649, 3172], 'Genome': [650, 654, 3173, 3177, 4238, 4537], 'Atlas': [651, 655, 3174, 3178], 'N.': [652, 771, 906, 2004, 2054, 2220, 2270, 2960, 3175, 3399, 3588, 4023, 4317], 'Cancer': [653, 3176, 4473], 'NetworkComprehensive': [656, 3179], 'molecular': [657, 949, 1184, 3180], 'characterization': [658, 3181], 'human': [660, 2025, 2241, 2820, 3183], 'rectal': [663, 3186], 'cancer.Nature.': [664, 3187], '487:': [666, 3189], '330-337Crossref': [667, 3190], '(5904)': [670, 3193], 'Microcephalic': [673], 'primordial': [674, 789, 981, 1121, 3934, 4041], 'dwarfism': [675, 790, 982, 1122, 4042], 'comprises': [676], 'group': [678, 3826], 'prenatal-onset': [680], 'extreme': [681], 'characterized': [684], 'by': [685, 2911, 3452, 3510, 3939, 3954, 4293, 4355, 4376, 4399, 4419, 4462, 4508, 4519], 'intrauterine': [686, 1826, 1903], 'retardation,': [688, 929, 3611], 'short': [689, 1615, 1659, 1985, 1992, 2033, 2249, 3652, 3728, 3943], 'stature,': [690, 1993, 3653, 3729, 3944], 'microcephaly.': [692], 'Genes': [693], 'involved': [694, 3962], 'cell': [696, 889, 935, 1762, 3270, 3353, 3450, 3548, 3617, 3657, 3759, 3794, 3838, 4349], 'cycle': [697], 'progression,': [698], 'including': [699, 1682], 'multiple': [700], 'components': [701], 'licensing': [705, 3965], 'machinery,': [706], 'identified': [709, 983, 1123, 1276, 1347, 1471, 1546, 2096, 2115, 2585], 'monogenic': [711], 'causes': [712, 2974, 3413, 3649], 'this': [714, 1636, 2098, 2164, 2379, 2455, 2472, 2815, 2828, 3493, 3823, 4415], 'disorder.7Bicknell': [715], 'L.S.': [716, 754, 3968, 4006], 'Bongers': [717, 3969], 'E.M.': [718, 3970], 'Leitch': [719, 761, 3971, 4013], 'A.': [720, 758, 762, 816, 876, 1228, 2926, 2928, 3365, 3367, 3690, 3781, 3972, 4010, 4014, 4068, 4268], 'Brown': [721, 733, 3973, 3985], 'Schoots': [723, 3975], 'J.': [724, 810, 841, 858, 910, 1225, 2000, 2052, 2216, 2268, 2755, 2865, 3298, 3592, 3763, 3846, 3976, 4062, 4093, 4128, 4182, 4242], 'Harley': [725, 3977], 'M.E.': [726, 3978], 'Aftimos': [727, 3979], 'Al-Aama': [729, 3981], 'J.Y.': [730, 3982], 'Bober': [731, 772, 3983, 4024], 'P.A.': [734, 3986], 'al.Mutations': [736, 775, 2940, 3379, 3988, 4027, 4130], 'pre-replication': [739, 3991], 'complex': [740, 1246, 3992, 4134], 'Meier-Gorlin': [742, 792, 837, 3936, 3994, 4044, 4089, 4138, 4180], 'syndrome.Nat.': [743, 793, 2949, 3388, 3995, 4045, 4139], '2011;': [745, 795, 3997, 4047, 4141], '43:': [746, 796, 3998, 4048, 4142], '356-359Crossref': [747, 3999], '(188)': [750, 4002], '8Bicknell': [753, 4005], 'Walker': [755, 4007], 'Klingseisen': [757, 4009], 'Stiff': [759, 4011], 'Kerzendorfer': [763, 4015], 'C.A.': [766, 4018], 'Yeyati': [767, 4019], 'Al': [769, 3682, 4021], 'Sanna': [770, 4022], 'ORC1,': [777, 4029], 'largest': [780, 4032], 'origin': [784, 4036, 4132], 'recognition': [785, 4037, 4133], 'complex,': [786, 4038], 'microcephalic': [788, 980, 4040], '350-355Crossref': [797, 4049], '(162)': [800, 4052], '9Fenwick': [803, 4055], 'A.L.': [804, 4056], 'Kliszczak': [805, 4057], 'Cooper': [807, 4059], 'Murray': [809, 4061], 'Sanchez-Pulido': [811, 4063], 'Twigg': [813, 4065], 'S.R.F.': [814, 4066], 'Goriely': [815, 4067], 'McGowan': [817, 4069], 'Miller': [819, 4071], 'K.A.': [820, 4072], 'Taylor': [821, 4073], 'I.B.': [822, 3225, 4074], 'al.WGS500': [824, 4076], 'ConsortiumMutations': [825, 4077], 'CDC45,': [827, 4079], 'Encoding': [828, 4080], 'Essential': [830, 4082], 'Component': [831, 4083], 'Pre-initiation': [834, 4086], 'Complex,': [835, 4087], 'Cause': [836, 4088, 4174], 'Syndrome': [838, 4090], 'Craniosynostosis.Am.': [840, 4092], 'Hum.': [842, 4094, 4183], '99:': [845, 4097], '125-138Abstract': [846, 4098], '(73)': [854, 4106], '10Cottineau': [857], 'Kottemann': [859, 3764], 'M.C.': [860, 3765], 'Lach': [861, 907, 3589, 3766], 'F.P.': [862, 908, 3590, 3767], 'Kang': [863, 3768], 'Y.H.': [864, 3769], 'Vély': [865, 3770], 'Deenick': [867, 3772], 'E.K.': [868, 3773], 'Lazarov': [869, 3774], 'Gineau': [871, 3776], 'Wang': [873, 3778], 'Y.': [874, 2962, 3401, 3779], 'Farina': [875, 3780], 'al.Inherited': [878, 3783], 'GINS1': [879, 3742, 3784], 'underlies': [881, 3786], 'retardation': [883, 3788], 'along': [884, 3789, 4214], 'neutropenia': [886, 3791], 'NK': [888, 3758, 3793, 3917], 'deficiency.J.': [890, 936, 3618, 3795], 'Clin.': [891, 937, 3619, 3661, 3707, 3796], 'Invest.': [892, 938, 3620, 3662, 3797], '127:': [894, 3799], '1991-2006Crossref': [895, 3800], '(80)': [898, 3803], '11Gineau': [901], 'Cognet': [903, 3585], 'Kara': [905, 3587], 'Dunne': [909, 3591], 'Veturi': [911, 3593], 'U.': [912, 3594], 'Picard': [913, 3595], 'Trouillet': [915, 3597], 'Eidenschenk': [917, 3599], 'Aoufouchi': [919, 3601], 'al.Partial': [922, 3604], 'MCM4': [923, 3605, 3647], 'patients': [926, 2979, 3418, 3608], 'insufficiency,': [931, 3613], 'natural': [933, 2131, 3615, 3655], 'killer': [934, 2132, 3616, 3656], '122:': [940, 3622, 3664], '821-832Crossref': [941, 3623], '(206)': [944, 3626], 'As': [947, 1063, 2659, 3468], 'basis': [950, 4220], 'many': [952], 'affected': [953, 1586, 1646, 1677, 2094, 2315, 2510], 'remains': [955], 'be': [957, 1979, 2355, 2458, 2468, 2648, 2681, 2909, 3263, 3749, 4231], 'determined,': [958], 'performed': [960, 2322, 2374], 'whole-genome': [961], 'sequencing': [962, 974, 1106, 1114, 2352, 4333], 'identify': [965], 'further': [966, 1076], 'facilitate': [969], 'more': [970], 'comprehensive': [971], 'diagnosis.': [972], 'Whole-genome': [973], '(WGS)': [975], '48': [977], 'heterozygous': [984, 1128, 2173, 3010, 3260], '(GenBank:': [986, 1412], 'NM_006231.3)': [987], '(LoF)': [989], '(P1,': [994, 2331], 'P3,': [995, 1159, 2118, 2138, 2531, 2718], 'P4;': [996], 'Table': [997, 1061, 1137, 1597, 1703, 1705, 2127, 3832], '1).': [998, 1104, 1138, 1292, 1344, 3197], 'LoF': [1000, 1097, 1130, 1279, 2486], 'were': [1002, 1066, 1075, 1348, 1502, 1577, 1717, 1723, 2321, 2516, 2588], 'significantly': [1003, 1629], 'enriched': [1004], 'our': [1006, 2184], 'cohort': [1007, 3811], 'compared': [1008], 'control': [1011, 2538], 'WGS': [1012, 1073, 1274, 4341], 'dataset': [1013], '(GnomAD,12Lek': [1014], 'Karczewski': [1016, 1355], 'K.J.': [1017, 1356], 'Minikel': [1018, 1357], 'E.V.': [1019, 1358], 'Samocha': [1020, 1359], 'K.E.': [1021, 1360], 'Banks': [1022, 1361], 'Fennell': [1024, 1363], "O'Donnell-Luria": [1026, 1365], 'A.H.': [1027, 1366], 'Ware': [1028, 1367], 'J.S.': [1029, 1368], 'Hill': [1030, 1369], 'A.J.': [1031, 1370, 3644], 'Cummings': [1032, 1371], 'B.B.': [1033, 1372], 'al.Exome': [1035, 1374], 'Aggregation': [1036, 1375], 'ConsortiumAnalysis': [1037, 1376], 'protein-coding': [1039, 1378], 'variation': [1041, 1380], '60,706': [1043, 1382], 'humans.Nature.': [1044, 1383], '536:': [1046, 1385], '285-291Crossref': [1047, 1386], '(6555)': [1050, 1389], 'p': [1053], '=': [1054, 2551], '5.1': [1055], '×': [1056], '10−5,': [1057], "Fisher's": [1058], 'exact': [1059], 'test,': [1060], 'S1).': [1062], 'present': [1067, 1092, 1503, 1578, 1601, 1725, 2135], 'unaffected': [1070], 'parents,': [1071], 'data': [1074, 1116, 1275, 1886, 1963], 'evaluated': [1077], 'rare': [1081, 1350], 'identified,': [1086], 'c.1686+32C>G': [1087, 1134, 1294, 2390, 2396, 2626], '(dbSNP:': [1088], 'rs762985435).': [1089], 'This': [1090, 2392, 2639, 2792, 4351], 'was': [1091, 1296, 1326, 1399, 1600, 1608, 1627, 1637, 2134, 2372, 2496, 4353, 4417], 'trans': [1094, 1283, 2642], 'mutation': [1098, 1188, 1460, 1535, 2022, 2238, 2487, 2628, 2640, 3648, 3698], 'all': [1100, 1303, 1603, 1676, 2636, 3819], 'probands': [1102], '(Table': [1103, 1291, 1407, 2125], 'Targeted': [1105], 'interrogation': [1110], 'existing': [1112, 1183], 'whole-exome': [1113], '(WES)': [1115], 'additional': [1118, 1125, 1277], 'five': [1124], 'compound': [1127, 2172], 'alleles': [1131], '(P5–P9,': [1136], 'Notably,': [1139, 2163, 3929], 'diagnosis': [1142, 1185], '(GeneReviews': [1146, 1699], 'Web': [1148, 1701], 'Resources)': [1149], '(MIM:': [1150, 3671, 3761], '614732)': [1151], 'considered': [1154], 'P1': [1157, 2141, 2526, 2716, 2824], 'failure': [1162, 1591, 3892], 'P5,': [1166], 'P6,': [1167], 'P7.': [1169], 'We': [1170, 4296, 4343], 'therefore': [1171, 2497, 2680, 3338, 4230], 'investigated': [1172], 'drawn': [1177], 'other': [1179, 1835, 1912], 'cohorts': [1180], 'without': [1181, 3735], '(i.e.,': [1186], 'CDKN1C': [1187, 1840, 1917, 2946, 2973, 3346, 3385, 3412, 3448, 4225], 'negative).': [1189], 'included': [1191], 'published': [1194], 'IMAGe-affected': [1195, 1841, 1918], 'case': [1196, 1604, 1691, 2579, 2637], 'subjects.13Tan': [1197], 'T.Y.': [1198], 'Jameson': [1199], 'J.L.': [1200], 'Campbell': [1201], 'P.E.': [1202], 'Ekert': [1203], 'P.G.': [1204], 'Zacharin': [1205, 1241], 'Savarirayan': [1207, 1239], 'Two': [1209], 'sisters': [1210], 'syndrome:': [1213, 1244], 'cytomegalic': [1214], 'histopathology,': [1216], 'support': [1217], 'autosomal': [1219, 1403], 'recessive': [1220], 'inheritance': [1221], 'literature': [1223], 'review.Am.': [1224], '2006;': [1229], '140:': [1230], '1778-1784Crossref': [1231], '(17)': [1234, 2090, 2306], '14Pedreira': [1237], 'C.C.': [1238], 'M.R.': [1242], 'growth,': [1249], 'gonadal': [1252], 'function,': [1253], 'skeletal': [1255, 1830, 1836, 1907, 1913], 'development.J.': [1256], 'Pediatr.': [1257], '2004;': [1258], '144:': [1259], '274-277Abstract': [1260], '(33)': [1268], 'Analysis': [1271, 2809], 'their': [1273, 4303], 'inherited': [1281, 1405], 'P11–P15': [1290], 'haplotype': [1301, 1477, 1552], 'where': [1305, 1393], 'WES/WGS': [1306], 'performed,': [1307], 'extending': [1308], 'over': [1309], '921': [1310], 'kbp': [1311], '(Figure': [1312, 1334, 1343, 1595, 1668, 2348, 2367, 2429, 2520, 2569, 2724, 3196, 3576, 3830, 4198], 'S2,': [1313], 'chr12:132341818–133263107,': [1314], 'GRCh38).': [1315], 'P10': [1317], '(c.3019G>C)': [1321], 'p.Ala1007Pro': [1324], 'substitution': [1325], 'found,': [1327], 'residue': [1330], 'yeast': [1333, 3236], 'S1)': [1335], 'within': [1336, 2364, 3350], 'protein': [1342, 2465, 2503, 2970, 3409], 'sufficiently': [1349], '(MAF': [1351], '<': [1352], '0.000112Lek': [1353], 'Scholar)': [1391], 'and,': [1392], 'available,': [1395], 'segregation': [1396], 'families': [1398, 3740, 4299], 'consistent': [1400, 2575], 'recessively': [1404], '1).Table': [1408], '1Biallelic': [1409], 'Mutations': [1411, 1734, 3442, 4173], 'NM_006231.3)IDFamSexAllele': [1413], '1Allele': [1414], '2Mat': [1415], 'AllelePat': [1416], 'AlleleCountry': [1417], 'OriginNucleotide': [1419], 'ChangeAmino': [1420, 1423], 'Acid': [1421, 1424], 'ConsequenceMAFNucleotide': [1422], 'ConsequenceMAFP11Mc.2091dupCp.Phe699Valfs∗110c.1686+32C>Gp.Asn563Valfs∗160.00007112UKP21Fc.2091dupCp.Phe699Valfs∗110c.1686+32C>Gp.Asn563Valfs∗160.00007112UKP32Mc.62+1G>AEssential': [1425], 'Splice': [1426, 1430, 1434, 1438], 'Site': [1427, 1431, 1435, 1439], 'Intron': [1428, 1432, 1436, 1440], '10c.1686+32C>Gp.Asn563Valfs∗160.00007121IrelandP43Fc.5940G>Ap.Trp1980∗0.000016c.1686+32C>Gp.Asn563Valfs∗160.00007121AustraliaP54Mc.4728+1G>TEssential': [1429], '360c.1686+32C>Gp.Asn563Valfs∗160.00007121USAP65Fc.3264_3275+13delEssential': [1433], '260.000016c.1686+32C>Gp.Asn563Valfs∗160.00007112CanadaP76Mc.1A>Tp.?0.000081c.1686+32C>Gp.Asn563Valfs∗160.000071n/an/aUSAP87Mc.1A>Tp.?0.000081c.1686+32C>Gp.Asn563Valfs∗160.00007121IrelandP97Fc.1A>Tp.?0.000081c.1686+32C>Gp.Asn563Valfs∗160.00007121IrelandP108Fc.3019G>Cp.Ala1007Pro0.000009c.1686+32C>Gp.Asn563Valfs∗160.00007112IrelandP119Fc.5265delGIle1756Serfs∗50c.1686+32C>Gp.Asn563Valfs∗160.00007121AustraliaP129Mc.5265delGIle1756Serfs∗50c.1686+32C>Gp.Asn563Valfs∗160.00007121AustraliaP1310Fc.2049C>Gp.Tyr683∗0.000028c.1686+32C>Gp.Asn563Valfs∗160.00007112AustraliaP1411Mc.6518_6519delCTp.Ser2173Phefs∗1300.000089c.1686+32C>Gp.Asn563Valfs∗160.00007121USAP1512Mc.801+2T>CEssential': [1437], '8–c.1686+32C>Gp.Asn563Valfs∗160.00007112USAAbbreviations:': [1441], 'ID,': [1442, 1517, 1819, 1896], 'individual': [1443, 1518, 1820, 1897], 'number;': [1444, 1447, 1519, 1522, 1821, 1824, 1898, 1901], 'Fam,': [1445, 1520, 1822, 1899], 'family': [1446, 1521, 1823, 1900], 'Mat,': [1448, 1523], 'maternal;': [1449, 1524], 'Pat,': [1450, 1525], 'paternal;': [1451, 1526], 'n/a,': [1452, 1527], 'not': [1453, 1528, 1844, 1858, 1921, 1935, 4448], 'available.': [1454, 1529], 'harbored': [1457, 1532], 'on': [1467, 1542, 2323, 2488, 2685, 3907, 3923], 'alternate': [1469, 1544, 2416], 'allele': [1470, 1489, 1545, 1564], 'found': [1479, 1554, 2907], 'alter': [1481, 1556], 'splicing': [1482, 1557, 2377, 2400, 2426], 'RNA': [1484, 1559, 2319], 'studies.': [1485, 1560], 'MAF': [1486, 1561], 'indicates': [1487, 1562], 'minor': [1488, 1563], 'frequency': [1490, 1565], 'European': [1492, 1567, 4362, 4489], '(non-Finnish)': [1493, 1568], 'population': [1494, 1507, 1569, 1582], 'observed': [1495, 1570, 1719], 'gnomAD.': [1497, 1509, 1572, 1584], 'None': [1498, 1573], 'any': [1505, 1580, 2463], 'Non-European': [1506, 1581], 'Open': [1510, 1889], 'table': [1511, 1890], 'new': [1514, 1893], 'tab': [1515, 1894], 'Abbreviations:': [1516, 1895], 'severe': [1589], 'prenatal': [1593, 2797], 'onset': [1594, 2798], '2,': [1596, 1704, 2126], 'S2).': [1598], 'IUGR': [1599, 3726], '(birth': [1606], 'weight': [1607], '−3.0': [1609], '±': [1610, 1621, 1633, 2523, 2529, 2547], '0.8': [1611], 'SD)': [1612], 'significant': [1614, 2796], 'stature': [1616, 1986, 2034, 2250], 'evident': [1617], 'postnatally': [1618], '(height': [1619], '−8.1': [1620], '2.4': [1622], 'SD).': [1623], 'While': [1624, 2454, 2726], 'head': [1625], 'circumference': [1626], 'reduced': [1630, 2674, 2801, 2806, 2840, 2853], '(OFC': [1631], '−5.4': [1632], '1.5': [1634], 'SD),': [1635], 'less': [1638], 'severe,': [1639], 'resulting': [1640, 2590, 2847], 'relative': [1643, 2532], 'macrocephaly.': [1644], 'Those': [1645], 'appearance': [1651], 'micrognathia,': [1653], 'crowded': [1654], 'dentition,': [1655], 'long': [1656], 'thin': [1657], 'nose,': [1658], 'wide': [1660], 'neck,': [1661], 'small,': [1663], 'low-set,': [1664], 'posteriorly': [1665], 'rotated': [1666], 'ears': [1667], '2).': [1669], 'insufficiency': [1674], 'males': [1678, 1853, 1930], 'abnormalities': [1681, 1837, 1851, 1914, 1928], 'bilateral': [1683], 'cryptorchidism': [1684], 'hypospadias,': [1686], 'majority': [1689], 'fulfilling': [1693], 'criteria': [1695], 'Resources;': [1702], 'S3,': [1706], 'Supplemental': [1707, 4554, 4561], 'Note).': [1708], 'Osteopenia': [1709], 'developmental': [1711, 1871, 1948], 'dysplasia': [1712, 1833, 1872, 1910, 1949], 'hip': [1715], '(DDH)': [1716], 'frequently': [1718], 'café-au-lait': [1721], 'patches': [1722], 'notably': [1724], 'third': [1728], 'individuals.Table': [1730], '2Individuals': [1731], 'Biallelic': [1733], 'Were': [1737], 'Clinically': [1738], 'Diagnosed': [1739], 'Primordial': [1741, 4176], 'Dwarfism': [1742, 4177], 'Features': [1744], 'SyndromeIDFamSexAgeIM+SIAGe−IOther': [1747], 'FeaturesP11M18YYYYYscoliosis,': [1748], 'osteopenia,': [1749, 1757, 1788, 1813], 'small': [1750], 'patella,': [1751], 'seizures,': [1752, 1812], 'gastrostomy,': [1753, 1764, 1775], 'eczemaP21F1YYY–Y–P32M7YYYYYmidline': [1754], 'accessory': [1755], 'incisor,': [1756], 'infant': [1758, 1776], 'eczemaP43F50YYN–YIgM': [1759], 'paraproteinaemiaP54M12YNAYYYhypopituitarism,': [1760], 'T': [1761, 3269], 'lymphoma,': [1763], 'absent': [1765], 'patellaP65F10YYY–Ybilat': [1766], 'coxa': [1767], 'valga,': [1768], '11': [1769, 1785, 3274], 'ribs,': [1770, 1786], '6': [1771], 'lumbar': [1772], 'vertebrae,': [1773], 'scoliosis,': [1774], 'eczemaP76M13YYYYNhypopituitarism,': [1777], 'atrial': [1778], 'septal': [1779], 'defect,': [1780], 'brachydactyly,': [1781], 'gastrostomyP87M3YYNYYDDH,': [1782], 'gastrostomyP97F2YYN–YDDH,': [1783], 'gastrostomyP108F39YYY–NDDH,': [1784], 'clinodactyly,': [1787], 'café': [1789, 1796, 1803], 'au': [1790, 1793, 1797, 1804, 1809], 'lait': [1791, 1794, 1798, 1805, 1810], 'patchesP119F0.2YNAY–Ycafé': [1792], 'patchP129F12YYY–N–P1310M22YYYYNDDH,': [1795], 'patchP1411F18YYY–Ygastrostomy,': [1799], 'hypercalaemia': [1800], 'infancy,': [1802], 'patches,': [1806, 1811], 'DDH,': [1807, 1870, 1947], 'kyphoscoliosisP1512M31YNAYYYcafé': [1808], 'osteoporosis,': [1814], 'nodular': [1815], 'sclerosis,': [1816], "Hodgkin's": [1817, 3278], 'lymphomaAbbreviations:': [1818], 'I,': [1825, 1902], 'restriction;': [1828, 1905], 'M+SI,': [1829, 1906], 'involvement:': [1831, 1908], 'or': [1834, 1867, 1911, 1944, 3215, 3258, 3922], '(NA,': [1843, 1920], 'assessed);': [1845, 1922], 'A,': [1846, 1923], 'insufficiency;': [1848, 1925], 'Ge,': [1849, 1926], '(–': [1854, 1931], 'female,': [1855, 1932], 'applicable);': [1859, 1936], '−I,': [1860, 1937], 'either': [1862, 1939], 'increased': [1863, 1940, 2102, 3286, 3341], 'susceptibility': [1864, 1941, 2103], 'infections': [1866, 1943], 'documented': [1868, 1945], 'lymphopenia/hypogammaglobinemia;': [1869, 1946], 'hip;': [1875, 1952], 'Y,': [1876, 1953], 'yes;': [1877, 1954], 'N,': [1878, 1955], 'no.': [1879, 1956], 'See': [1880, 1957], 'Tables': [1881, 1958, 4558], 'S1–S4': [1882, 1959], 'extended': [1884, 1961], 'morphometrics.': [1888, 1965], 'A': [1966, 2369], 'single': [1967, 3579], 'homozygous': [1968, 3580], '(c.4444+3A>G)': [1971], 'has': [1974, 2737, 2795, 2904], 'lymphopenia,': [1983], '(facial': [1987], 'dysmorphism,': [1988, 2029, 2245], 'livedo,': [1990, 2031, 2247], 'aka': [1994], 'FILS': [1995], '[MIM:': [1997, 3949], '615139]).15Pachlopnik': [1998], 'Schmid': [1999, 2215], 'Lemoine': [2001, 2217], 'Nehme': [2003, 2219], 'Cormier-Daire': [2005, 2221], 'V.': [2006, 2222, 2751, 2861, 3294, 3842, 4245], 'Revy': [2007, 2223], 'Debeurme': [2009, 2225], 'Debré': [2011, 2227], 'Nitschke': [2013, 2229], 'Bole-Feysot': [2015, 2231], 'Legeai-Mallet': [2017, 2233], 'al.Polymerase': [2020, 2236], 'ε1': [2021, 2237], '("FILS': [2035, 2251], 'syndrome").J.': [2036, 2252], 'Exp.': [2037, 2253], '209:': [2040, 2256], '2323-2330Crossref': [2041, 2257], '(55)': [2044, 2260], '16Thiffault': [2047, 2263], 'Saunders': [2049, 2265], 'Jenkins': [2051, 2267], 'Raje': [2053, 2269], 'Canty': [2055, 2271], 'K.': [2056, 2272, 2761, 2871, 3304, 3677, 3679, 3852], 'Sharma': [2057, 2273], 'Grote': [2059, 2275], 'Welsh': [2061, 2277], 'H.I.': [2062, 2278], 'Farrow': [2063, 2279], 'Twist': [2065, 2281], 'al.A': [2068, 2284, 3696], 'patient': [2069, 2285], 'E1': [2072, 2288], '(POLE1):': [2074, 2290], 'overlap': [2078, 2294, 3483], 'breakage/instability': [2081, 2297], 'syndromes.BMC': [2082, 2298], '2015;': [2085, 2301, 3460, 4185], '16:': [2086, 2302], '31Crossref': [2087, 2303], 'Five': [2093], 'study': [2099], 'respiratory': [2105], 'tract': [2106], 'infections,': [2107], 'subset': [2110], 'deficiencies': [2111], 'IgM': [2113], 'hypogammaglobinemia': [2114], 'P1,': [2117, 2137], 'P4,': [2119], 'P8,': [2120], 'P9,': [2121], 'P14,': [2122], 'P15': [2124, 3276], 'S4).': [2128, 2570], 'Deficiency': [2129], 'cells': [2133, 3912, 3918, 3926], 'P8.': [2140], 'most': [2144], 'profound': [2145], 'developing': [2147], 'CMV': [2148], 'pneumonitis': [2149], 'then': [2151, 2373, 2647], 'subsequently': [2152], 'developed': [2153, 3267, 3277], 'EBV': [2154], 'haemophagocytic': [2155], 'lymphohistiocytosis,': [2156], 'requiring': [2157], 'allogeneic': [2159], 'bone': [2160], 'marrow': [2161], 'transplant.': [2162], "subject's": [2165], 'sister': [2166], '(P2),': [2167], 'who': [2168], 'mutations,': [2175], 'died': [2176], '22': [2178], 'months': [2179], 'HSV': [2181], 'infection.': [2182], 'Therefore,': [2183], 'phenotype': [2189, 2206, 2577, 2593, 2977, 3416], 'spectrum': [2190, 2594], 'extends': [2195], 'include': [2200, 4240], 'line': [2203], 'pathogenicity': [2208], 'c.4444+3A>G': [2213], 'mutation.15Pachlopnik': [2214], 'To': [2309], 'whether': [2311], 'c.1686+32C>T': [2313], 'transcript,': [2318], 'primary': [2324, 2507, 2713, 2819], 'fibroblast': [2325], 'lines': [2326], 'derived': [2327, 2813], 'two': [2329], 'P3).': [2332], 'RT-PCR': [2333], 'using': [2334], 'primers': [2335], 'spanning': [2336], 'intron': [2338, 2362, 2421], 'demonstrated': [2340, 2393, 2707], 'presence': [2342], 'larger': [2345], 'PCR': [2346], 'product': [2347], '3),': [2349], 'capillary': [2351], 'established': [2353, 2830], 'retention': [2358], 'transcripts': [2366], 'S3).': [2368], 'minigene': [2370], 'assay': [2371], 'assess': [2376], 'genomic': [2380], 'segment': [2381], 'directly': [2384], 'confirm': [2385], 'contribution': [2387], 'variant.': [2391], 'markedly': [2398, 2518, 2805], 'impaired': [2399, 2721, 3217, 3898], 'usual': [2403], 'exon': [2404], 'splice': [2406, 2417, 2627], 'donor': [2407, 2418], 'site,': [2408], 'preferential': [2411], 'use': [2412], 'downstream': [2415], 'site': [2419, 3446], '15,': [2422], 'although': [2423], 'some': [2424], 'canonical': [2425, 2696], 'occurred': [2428], '3).': [2430, 2725], 'inclusion': [2432], '47': [2434], 'bp': [2435], 'transcript': [2442, 2456], 'results': [2443], 'frameshift,': [2446], 'would': [2448, 2466, 2646, 2679], 'premature': [2451], 'termination': [2452], '(p.Asn563Valfs∗16).': [2453], 'might': [2457], 'targeted': [2459], 'nonsense-mediated': [2461], 'decay,': [2462], 'translated': [2464], 'non-functional': [2469], 'given': [2470], 'frameshift': [2473], 'occurs': [2474], 'start': [2477], 'domain.': [2482], 'Combined': [2483], 'allele,': [2491], 'substantial': [2492], 'reduction': [2493, 2560], 'anticipated.': [2498], 'Subsequent': [2499], 'immunoblotting': [2500], 'total': [2502], 'extracts': [2504], 'fibroblasts': [2508, 2714, 2812, 2821], 'confirmed': [2512], 'levels': [2515, 2676, 2841], 'indeed': [2517], 'depleted': [2519], '3;': [2521], '5%': [2522], '3%': [2524], '11%': [2528], '4%': [2530], 'mean': [2535, 2546], 'both': [2537, 2564, 2833], 'normalized': [2541], 'vinculin': [2543], 'loading': [2544], 'control;': [2545], 'SD': [2548], 'n': [2550], '2': [2552], 'independent': [2553], 'experiments),': [2554], 'chromatin': [2556, 2675], 'fractionation': [2557], 'experiments': [2558], 'demonstrating': [2559], 'soluble': [2565], 'chromatin-bound': [2567], 'fractions': [2568], 'Taken': [2571], 'across': [2578], 'subjects,': [2580], 'concluded': [2582], 'pathogenic,': [2589], 'substantially': [2595], 'overlapping': [2596], 'keeping': [2600], 'requirement': [2604], 'eukaryotes,2Hogg': [2608], '"leaky"': [2625], 'permitted': [2629], 'residual': [2630], 'expression': [2631], 'functional': [2633, 3207], 'subjects.': [2638], 'truncating': [2644], 'expected': [2649, 2682], 'marked': [2653], 'but': [2654], 'partial': [2655], 'loss': [2656], 'function.': [2658], 'ε,': [2673, 4228], 'impact': [2684, 3906], 'availability': [2687], 'activity': [2693], 'during': [2694, 4212], 'its': [2695, 3351, 3560, 4469], 'function': [2697, 3900], 'replication.': [2700], 'Consistent': [2701], 'this,': [2703], 'time-course': [2704], 'FACS': [2705, 4329], 'analysis': [2706], 'cell-cycle': [2709], 'progression': [2710, 2723], 'BrdU-labeled': [2712], 'indicative': [2719], 'no': [2727], 'viable': [2728], 'model': [2729], 'exists,': [2733], 'Pole4−/−': [2735, 3290], 'mouse': [2736, 2793, 2816], 'generated,': [2739], 'similarly': [2742], 'deficient': [2743, 3212], 'holoenzyme.17Bellelli': [2748], 'Borel': [2750, 2860, 3293, 3841], 'Logan': [2752, 2862, 3295, 3843], 'Svendsen': [2754, 2864, 3297, 3845], 'Cox': [2756, 2866, 3299, 3847], 'D.E.': [2757, 2867, 3300, 3848], 'Nye': [2758, 2868, 3301, 3849], 'Metcalfe': [2760, 2870, 3303, 3851], "O'Connell": [2762, 2872, 3305, 3853], 'S.M.': [2763, 2873, 3306, 3854], 'Stamp': [2764, 2874, 3307, 3855], 'Flynn': [2766, 2876, 3309, 3857], 'H.R.': [2767, 2877, 3310, 3858], 'al.Polε': [2769, 2879, 3312, 3860], 'Instability': [2770, 2880, 3313, 3861], 'Drives': [2771, 2881, 3314, 3862], 'Replication': [2772, 2882, 3315, 3834, 3863], 'Stress,': [2773, 2883, 3316, 3864], 'Abnormal': [2774, 2884, 3317, 3865], 'Development,': [2775, 2885, 3318, 3866], 'Tumorigenesis.Mol.': [2777, 2887, 3320, 3868], 'Cell.': [2778, 2888, 3321, 3869], '2018;': [2779, 2889, 3322, 3870], '70:': [2780, 2890, 3323, 3871], '707-721.e7Abstract': [2781, 2891, 3324, 3872], '(45)': [2789, 2899, 3332, 3880], 'failure,': [2800, 3651], 'brain': [2802], 'size,': [2803], 'levels.': [2808], 'embryonic': [2811], '(derived': [2822], 'P3': [2826], 'study)': [2829], 'leads': [2838], 'chromatin-loaded': [2843], 'complexes,': [2846], 'stress': [2850, 3835], 'arising': [2851], 'numbers': [2854], 'active': [2856], 'origins.17Bellelli': [2858], 'caused': [2910, 3953], 'dominant': [2912], 'imprinted': [2917], 'gene,': [2918], 'CDKN1C.18Arboleda': [2919], 'V.A.': [2920, 3359, 3439], 'Lee': [2921, 3360], 'H.': [2922, 3361, 3681, 4114], 'Parnaik': [2923, 3362], 'Fleming': [2925, 3364], 'Banerjee': [2927, 3366], 'Ferraz-de-Souza': [2929, 3368], 'B.': [2930, 3369], 'Délot': [2931, 3370], 'E.C.': [2932, 3371], 'Rodriguez-Fernandez': [2933, 3372], 'I.A.': [2934, 3373], 'Braslavsky': [2935, 3374], 'D.': [2936, 3375, 4160, 4315], 'Bergadá': [2937, 3376], 'PCNA-binding': [2943, 3382, 3445], '44:': [2952, 3391], '788-792Crossref': [2953, 3392], '(143)': [2956, 3395], '19Hamajima': [2959, 3398], 'Johmura': [2961, 3400], 'Suzuki': [2963, 3402], 'Nakanishi': [2965, 3404], 'Saitoh': [2967, 3406], 'Increased': [2969, 3408], 'stability': [2971, 3410], 'syndrome.PLoS': [2982, 3421], 'ONE.': [2983, 3422], '8:': [2985, 3424], 'e75137Crossref': [2986, 3425], '(30)': [2989, 3428], 'Here,': [2992], 'autosomal-recessive': [3000], 'phenotype.': [3005], 'contrast': [3008], 'cancer-predisposing': [3014], 'affect': [3017], 'POLE13Palles': [3022], 'are': [3202], 'likely': [3203, 3883], 'differing': [3206], 'outcomes,': [3208], 'respectively': [3209, 3732], 'proof-reading.20Shcherbakova': [3218], 'P.V.': [3219], 'Pavlov': [3220], 'Y.I.': [3221], 'Chilkova': [3222], 'O.': [3223], 'Rogozin': [3224], 'Unique': [3230], 'error': [3231], 'signature': [3232], 'four-subunit': [3235], 'epsilon.J.': [3239], 'Biol.': [3240, 3534, 3566], 'Chem.': [3241, 3567], '2003;': [3242], '278:': [3243], '43770-43780Crossref': [3244], '(98)': [3247], 'Hence,': [3250, 3806], 'similar': [3252], 'predisposition': [3254], 'carriers': [3261], 'cannot': [3262], 'assumed.': [3264], 'However,': [3265, 3896], 'P5': [3266], 'lymphoma': [3271, 3279, 3287], 'age': [3273, 3281], '28.': [3282], 'Given': [3283], 'rates': [3288], 'mice,17Bellelli': [3291], 'may': [3337], 'confer': [3339], 'risk': [3342], 'lymphoma.': [3344], 'cluster': [3349], 'proliferating': [3352], 'nuclear': [3354, 3549], 'antigen': [3355, 3550], '(PCNA)': [3356], 'binding': [3357, 3434], 'domain,18Arboleda': [3358], 'targeting': [3431], 'PCNA': [3433, 3469], 'PIP-box': [3435], 'motif.21Borges': [3436], 'K.S.': [3437], 'Arboleda': [3438], 'Vilain': [3440], 'inhibit': [3449], 'proliferation': [3451], 'impairing': [3453], 'entry': [3455], 'into': [3456], 'S': [3457], 'phase.Cell': [3458], 'Div.': [3459], '10:': [3461], '2Crossref': [3462], '(14)': [3465], 'loads': [3470], 'initiation': [3476], '(Figures': [3477], '4': [3478], 'S5),': [3480], 'phenotypic': [3482], 'POLE-associated': [3485], 'suggests': [3488, 3501], 'mechanistic': [3490], 'link.': [3491], 'Supporting': [3492], 'notion,': [3494], 'biochemical': [3495, 4219], 'Xenopus': [3499], 'homolog': [3500], 'CDKN': [3503], 'ubiquitination': [3504, 3523], 'subsequent': [3506], 'degradation': [3507], 'mediated': [3509], 'PCNA/polymerase': [3511], 'loading23Furstenthal': [3512], 'Swanson': [3514], 'Kaiser': [3516], 'B.K.': [3517, 3684], 'Eldridge': [3518], 'A.G.': [3519], 'Jackson': [3520, 4359], 'P.K.': [3521], 'Triggering': [3522], 'CDK': [3526], 'inhibitor': [3527, 3554], 'origins': [3529], 'replication.Nat.': [3532], 'Cell': [3533], '2001;': [3535], '3:': [3536], '715-722Crossref': [3537], '(64)': [3540], '24Chuang': [3543], 'L.C.': [3544, 4150], 'Yew': [3545], 'P.R.': [3546], 'Proliferating': [3547], 'recruits': [3551], 'cyclin-dependent': [3552], 'kinase': [3553], 'Xic1': [3555], 'couples': [3559], 'proteolysis': [3561], 'switching.J.': [3565], '2005;': [3568], '280:': [3569], '35299-35309Crossref': [3570], 'S5).': [3577, 3833], 'Furthermore,': [3578], 'MCM411Gineau': [3583], '25Hughes': [3629], 'C.R.': [3630], 'Guasti': [3631], 'Meimaridou': [3633], 'Chuang': [3635], 'C.H.': [3636], 'Schimenti': [3637], 'J.C.': [3638], 'King': [3639], 'P.J.': [3640], 'Costigan': [3641], 'Clark': [3643], 'Metherell': [3645], 'L.A.': [3646], 'humans.J.': [3660], '814-820Crossref': [3665], '(176)': [3668], '609981)': [3672], 'POLE226Frugoni': [3674], 'Dobbs': [3676], 'Felgentreff': [3678], 'Aldhekri': [3680], 'Saud': [3683], 'Arnaout': [3685], 'Ali': [3687], 'A.A.': [3688], 'Abhyankar': [3689], 'Alroqi': [3691], 'Giliani': [3693], 'novel': [3697], 'POLE2': [3701], 'causing': [3703], 'combined': [3704], 'immunodeficiency.J.': [3705], 'Allergy': [3706], 'Immunol.': [3708], '137:': [3710], '635-638.e1Abstract': [3711], '(31)': [3719], 'failure.': [3737], 'Likewise,': [3738], 'several': [3739], 'pre/postnatal': [3752], 'restriction,': [3754], 'chronic': [3755], 'neutropenia,': [3756], '610608).10Cottineau': [3762], 'encompasses': [3818], 'consolidates': [3822], 'replisome-associated': [3828], '4,': [3831], 'p53-mediated': [3837], 'death17Bellelli': [3839], 'explain': [3884], 'immunodeficiency': [3886], 'well': [3888], 'global': [3890], 'individuals.': [3895], 'why': [3897], 'should': [3901], 'particularly': [3904], 'strong': [3905], 'specific': [3908, 4205], 'lymphoid': [3909], 'lineages': [3910], '(T/B': [3911], 'POLE1/2-deficient': [3914], 'MCM4/GINS1-deficient': [3920], 'individuals)': [3921], 'cortical': [3925], 'unclear.': [3928], 'another': [3930], 'distinct': [3931], 'form': [3932], 'dwarfism,': [3935], '(defined': [3938], 'triad': [3941], 'patella': [3945], 'hypoplasia,': [3946], 'microtia': [3948], '224690])': [3950], '(or': [3956], 'de': [3957], 'novo)': [3958], 'initiation7Bicknell': [3967], '27Guernsey': [4109], 'D.L.': [4110], 'Matsuoka': [4111], 'Jiang': [4113], 'Evans': [4115], 'Macgillivray': [4117], 'Nightingale': [4119], 'Perry': [4121], 'Ferguson': [4123], 'LeBlanc': [4125], 'Paquette': [4127], 'ORC4': [4136], '360-364Crossref': [4143], '(132)': [4146], '28Burrage': [4149], 'Charng': [4151], 'W.L.': [4152], 'Eldomery': [4153], 'M.K.': [4154], 'Willer': [4155], 'J.R.': [4156], 'Davis': [4157], 'E.E.': [4158], 'Lugtenberg': [4159], 'Zhu': [4161], 'W.': [4162, 4320], 'Leduc': [4163], 'M.S.': [4164], 'Akdemir': [4165], 'Z.C.': [4166], 'Azamian': [4167], 'al.De': [4170], 'Novo': [4171], 'GMNN': [4172], 'Autosomal-Dominant': [4175], 'Associated': [4178], 'Syndrome.Am.': [4181], '97:': [4186], '904-913Abstract': [4187], '(47)': [4195], '4).': [4199], 'Further': [4200], 'role(s)': [4206], 'proteins': [4211], 'development,': [4213], 'relationship': [4223], 'between': [4224], 'will': [4229], 'interest.': [4233], 'Members': [4234], 'Scottish': [4237, 4391, 4401, 4514, 4526], 'Partnership': [4239, 4516], 'Timothy': [4241], 'Aitman,': [4243], 'Andrew': [4244], 'Biankin,': [4246], 'Susanna': [4247], 'Cooke,': [4249], 'Wendy': [4250], 'Inglis': [4251], 'Humphrey,': [4252], 'Sancha': [4253], 'Martin,': [4254], 'Lynne': [4255], 'Mennie,': [4256], 'Alison': [4257], 'Meynert,': [4258], 'Zosia': [4259], 'Miedzybrodzka,': [4260], 'Fiona': [4261], 'Murphy,': [4262], 'Craig': [4263], 'Nourse,': [4264], 'Javier': [4265], 'Santoyo-Lopez,': [4266], 'Colin': [4267], 'Semple,': [4269], 'Nicola': [4271], 'Williams.': [4272], 'Department': [4274], 'Molecular': [4276], 'Human': [4278, 4382], 'Genetics': [4279, 4383], 'Baylor': [4281, 4294], 'College': [4282], 'Medicine': [4284], 'receives': [4285, 4468], 'revenue': [4286], 'services': [4291], 'offered': [4292], 'Genetics.': [4295], 'thank': [4297, 4344], 'clinicians': [4301], 'involvement': [4304], 'participation;': [4306], 'Potentials': [4308], 'Foundation': [4309], 'Walking': [4311], 'Giants': [4313], 'Foundation;': [4314], 'Fitzpatrick,': [4316], 'Hastie,': [4318], 'Bickmore': [4321], 'discussions;': [4323], 'Freyer': [4325], 'assistance': [4327], 'analysis;': [4330], 'IGMM': [4331], 'core': [4332, 4385, 4470], 'service;': [4334], 'Edinburgh': [4336], 'Genomics': [4337], '(Clinical': [4338], 'Division)': [4339], 'sequencing.': [4342], 'Penny': [4345], 'Jeggo': [4346], 'sharing': [4348], 'lines.': [4350], 'work': [4352, 4459], 'supported': [4354, 4398, 4418, 4461], 'funding': [4356, 4471], 'lab': [4360, 4396, 4458], 'Research': [4363, 4380, 4412, 4474, 4480, 4490, 4534], 'Council': [4364, 4381, 4481, 4491, 4535], 'ERC': [4365, 4370], 'Starter': [4366], 'Grant': [4367, 4373, 4495], 'HumGenSize,': [4368], '281847;': [4369], 'Advanced': [4371, 4493], 'Investigator': [4372, 4494, 4501], 'GrowCell,': [4374], '788093;': [4375], 'UK': [4378, 4475, 4478], 'Medical': [4379, 4409, 4479, 4533], 'Unit': [4384], 'grant': [4386], '(MRC,': [4387], 'U127580972),': [4388], 'Genomes': [4392, 4515], 'Partnership.': [4393], 'Rios': [4395], 'Texas': [4400], 'Rite': [4402], 'Hospital': [4403], 'Children': [4405], "Children's": [4408], 'Center': [4410, 4422], 'Foundation.': [4411], 'publication': [4416], 'National': [4421, 4429], 'Advancing': [4424], 'Translational': [4425], 'Sciences': [4426], 'Institutes': [4430], 'Health': [4432, 4528, 4540], 'under': [4433], 'award': [4434], 'number': [4435], 'UL1TR001105.': [4436], 'content': [4438], 'solely': [4440], 'responsibility': [4442], 'authors': [4445], 'does': [4447], 'necessarily': [4449], 'represent': [4450], 'official': [4452], 'views': [4453], 'NIH.': [4456], 'Boulton': [4457], 'Francis': [4464], 'Crick': [4465], 'Institute,': [4466], '(FC0010048),': [4476, 4482], 'Wellcome': [4485, 4498, 4510], 'Trust': [4486, 4499, 4511], '(FC0010048);': [4487], '(ERC)': [4492], '(TelMetab);': [4496], 'Senior': [4500], 'Collaborative': [4503], 'Grants.': [4504], 'R.K.S.': [4505], 'funded': [4507, 4518], '(210752/Z/18/Z).': [4512], 'Chief': [4521], 'Scientist': [4522], 'Office': [4523], 'Government': [4527], 'Directorates': [4529], '(SGP/1)': [4530], 'Whole': [4536], 'Sequencing': [4538], 'Wealth': [4542], 'Initiative.': [4543], 'Download': [4544], '.pdf': [4545], '(2.3': [4546], 'MB)': [4547], 'Help': [4548], 'pdf': [4550], 'files': [4551], 'Document': [4552], 'S1.': [4553], 'Note,': [4555], 'Figures': [4556], 'S1–S7,': [4557], 'S1–S5,': [4559], 'Material': [4562], 'Methods': [4564], 'dbSNP,': [4565], 'https://www.ncbi.nlm.nih.gov/projects/SNP/GenBank,': [4566], 'https://www.ncbi.nlm.nih.gov/genbank/GeneReviews,': [4567], 'Bennett,': [4568], 'J.,': [4569], 'Schrier': [4570], 'Vergano,': [4571], 'S.A.,': [4572], 'Deardorff,': [4574], 'M.A.': [4575], '(1993).': [4576], 'syndrome,': [4578], 'https://www.ncbi.nlm.nih.gov/books/NBK190103/gnomAD': [4579], 'Browser,': [4580], 'http://gnomad.broadinstitute.org/OMIM,': [4581], 'http://www.omim.org/': [4582]}, 'cited_by_api_url': 'https://api.openalex.org/works?filter=cites:W2902710416', 'counts_by_year': [{'year': 2024, 'cited_by_count': 7}, {'year': 2023, 'cited_by_count': 15}, {'year': 2022, 'cited_by_count': 18}, {'year': 2021, 'cited_by_count': 12}, {'year': 2020, 'cited_by_count': 15}, {'year': 2019, 'cited_by_count': 10}], 'updated_date': '2024-12-24T08:31:01.207549', 'created_date': '2018-12-11'}
Publication Information

Basic Information

Access and Citation

AI Researcher Chatbot

Primary Location

Authors

Topics

Keywords

Related Works
