Publication Information

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'https://openalex.org/W2008831040', 'https://openalex.org/W1965336646'], 'abstract_inverted_index': {'<title>Abstract</title>': [0], '<bold>Background.</bold>': [1], 'Fragile': [2], 'X': [3], 'syndrome': [4], '(FXS)': [5], 'is': [6, 34, 56, 60, 92], 'caused': [7], 'by': [8], 'silencing': [9], 'of': [10, 39, 80, 113, 119, 128, 138, 171, 211, 224, 229, 241, 259, 267, 320, 332, 337], 'the': [11, 40, 81, 89, 117, 125, 225, 235, 242, 278, 297, 330], '<italic>FMR1</italic>': [12, 29, 103, 180, 200, 281], 'gene,': [13], 'which': [14, 175], 'encodes': [15], 'a': [16, 19, 61, 77, 93, 110, 208, 254, 321], 'protein': [17, 47, 203], 'with': [18, 54, 68, 88, 140, 144, 148, 157, 162, 198, 261, 339], 'critical': [20], 'role': [21], 'in': [22, 169, 189, 247, 304, 345], 'synaptic': [23], 'plasticity.': [24], 'The': [25, 160, 288], 'molecular': [26], 'abnormality': [27], 'underlying': [28], 'silencing,': [30], 'CGG': [31, 181], 'repeat': [32, 182], 'expansion,': [33, 282], 'well': [35, 51], 'characterized;': [36], 'however,': [37], 'delineation': [38], 'pathway': [41, 84], 'from': [42, 50, 136], 'DNA': [43], 'to': [44, 46, 109, 270, 312], 'RNA': [45], 'using': [48], 'biosamples': [49], 'characterized': [52], 'patients': [53, 139], 'FXS': [55, 59, 149, 243, 260, 271, 340], 'limited.': [57], 'Since': [58], 'common': [62], 'and': [63, 72, 85, 99, 106, 133, 186, 193, 202, 215, 245, 263, 285, 293, 314, 325, 329, 347], 'prototypical': [64], 'genetic': [65], 'disorder': [66, 75], 'associated': [67], 'intellectual': [69], 'disability': [70], '(ID)': [71], 'autism': [73], 'spectrum': [74], '(ASD),': [76], 'comprehensive': [78], 'assessment': [79], '<italic>FMR1': [82, 120, 142], '</italic>DNA-RNA-protein': [83], 'its': [86, 172], 'correlations': [87, 233], 'neurobehavioral': [90, 173, 298, 327], 'phenotype': [91, 244, 299], 'priority.<bold>Methods.': [94], '</bold>We': [95], 'applied': [96], 'nine': [97], 'sensitive': [98], 'quantitative': [100], 'assays': [101, 130, 219], 'evaluating': [102], 'DNA,': [104], 'RNA,': [105], 'FMRP': [107, 158, 163, 187, 248, 291, 333], 'parameters': [108], 'reference': [111], 'set': [112], 'cell': [114, 191], 'lines': [115, 192], 'representing': [116], 'range': [118], '</italic>expansions.': [121], 'We': [122], 'then': [123], 'used': [124], 'most': [126], 'informative': [127], 'these': [129], 'on': [131, 146], 'blood': [132, 194, 214], 'buccal': [134, 216], 'specimens': [135], 'cohorts': [137], 'different': [141], '</italic>expansions,': [143], 'emphasis': [145], 'those': [147], '(N': [150], '=': [151, 155], '42': [152], 'total,': [153], 'N': [154], '31': [156], 'measurements).': [159], 'group': [161], 'data': [164], 'was': [165], 'also': [166, 206], 'evaluated': [167], 'comprehensively': [168], 'terms': [170], 'profile,': [174], 'allowed': [176], 'molecular-neurobehavioral': [177], 'correlations.': [178], '<bold>Results.</bold>': [179], 'expansions,': [183], 'methylation': [184, 230], 'levels,': [185, 188], 'both': [190], 'samples,': [195], 'were': [196], 'consistent': [197], 'previous': [199, 222], 'genomic': [201], 'studies.': [204], 'They': [205, 308], 'demonstrated': [207], 'high': [209, 227], 'level': [210], 'agreement': [212], 'between': [213, 238, 257, 280, 290, 323], 'specimens.': [217], 'These': [218], 'further': [220], 'corroborated': [221], 'reports': [223], 'relatively': [226], 'prevalence': [228], 'mosaicism.': [231], 'Molecular-neurobehavioral': [232], 'confirmed': [234], 'inverse': [236], 'relationship': [237, 256, 322], 'overall': [239, 294], 'severity': [240, 295], 'decrease': [246], 'levels.': [249], 'Other': [250], 'intriguing': [251], 'findings': [252, 319], 'included': [253], 'potential': [255], 'diagnosis': [258], 'ASD': [262, 324], 'very': [264], 'low': [265], 'levels': [266], 'FMRP,': [268], 'compared': [269], 'without': [272], 'ASD.': [273], '<bold>Conclusions.': [274], '</bold>The': [275], 'results<bold>': [276], '</bold>underscore': [277], 'link': [279], 'gene': [283], 'methylation,': [284], 'FMRP<italic>': [286], 'deficit.': [287, 334], '</italic>association': [289], 'deficiency': [292], '<italic>of': [296], 'invites': [300], '</italic>follow': [301], 'up': [302], 'studies': [303], 'larger': [305], 'patient': [306], 'cohorts.': [307], 'would': [309], 'be': [310], 'valuable': [311], 'confirm': [313], 'potentially': [315], 'extend': [316], 'our': [317], 'initial': [318], 'other': [326], 'features': [328], 'magnitude': [331], 'Molecular': [335], 'profiling': [336], 'individuals': [338], 'may': [341], 'have': [342], 'important': [343], 'implications': [344], 'research': [346], 'clinical': [348], 'practice.': [349]}, 'cited_by_api_url': 'https://api.openalex.org/works?filter=cites:W4234271532', 'counts_by_year': [{'year': 2024, 'cited_by_count': 2}, {'year': 2023, 'cited_by_count': 1}, {'year': 2022, 'cited_by_count': 7}, {'year': 2021, 'cited_by_count': 6}, {'year': 2020, 'cited_by_count': 3}], 'updated_date': '2024-12-27T10:06:07.571808', 'created_date': '2022-05-12'}