Publication Information

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'2012;5:271–273In': [154], 'this': [155, 236, 743, 1612, 1746, 1886, 2058, 2210], 'issue': [156, 674, 3007], 'Journal,': [159], 'Goodship': [160, 801, 1003, 2247], 'colleagues': [162, 803, 924, 1296], 'report': [163], 'results': [164, 1156, 1317, 1946], 'from': [165, 587, 619, 854, 884, 1031, 1049, 1418], 'an': [166, 815, 1675, 1940, 2962, 3006], 'association': [167, 1000, 1105, 1747, 1778, 1890, 1984, 2920, 3358], 'study': [168, 454, 799, 1001, 1622, 1829, 1887, 2418], 'for': [169, 286, 348, 375, 473, 499, 536, 568, 592, 677, 766, 932, 1015, 1021, 1132, 1200, 1228, 1281, 1346, 1407, 1436, 1444, 1609, 1724, 1743, 1763, 1770, 1781, 1806, 1849, 1860, 1870, 2036, 2153, 2489, 2663, 2894, 2974, 2981], 'common': [170, 1098, 1353, 1454, 1477, 1532, 1545, 1560, 1761, 2126], 'genetic': [171, 269, 338, 367, 389, 418, 555, 570, 837, 1145, 1225, 1354, 1377, 1399, 1455, 2892], 'variants': [172, 1517, 1533, 1546, 1708, 2127, 2147, 2628], 'underlying': [173, 316, 2666], 'tetralogy': [174, 2300, 2637], 'Fallot': [176], '(TOF).1': [177], 'By': [178, 1787, 3083], 'studying': [179, 1297], 'a': [180, 195, 199, 223, 229, 252, 303, 451, 460, 521, 533, 616, 640, 731, 767, 833, 866, 1159, 1171, 1278, 1326, 1419, 1428, 1571, 1626, 1646, 1698, 1760, 1782, 1842, 1845, 1943, 1948, 2025, 2416, 2450, 2558, 2972, 3072], 'limited': [181, 1783, 3030], 'number': [182, 842, 1784, 1790, 2627], 'single-nucleotide': [184], 'polymorphisms': [185], '(SNPs)': [186], 'tagging': [187], 'haplotypes': [188, 1839, 1869], 'at': [189, 198, 991], '22': [190, 2845], 'candidate': [191], 'genes,': [192], 'they': [193, 1054, 1522, 1637, 1863], 'associated': [194, 810, 1055, 1169, 1207, 1518, 1547, 1562, 1596, 1638, 1644, 1692, 1820, 2847], 'single': [196], 'SNP': [197, 218, 809, 870], 'chromosome': [200, 807, 992], '12': [201, 808, 1052], 'locus': [202], 'harboring': [203], 'PTPN11,': [204], 'which': [205, 503, 539, 654, 888, 1148, 1256, 1721, 1777, 1951], 'encodes': [206], 'protein': [208, 820], 'tyrosine': [209, 821], 'phosphatase': [210, 822], 'SHP2,': [211], 'other': [213, 706, 949, 1298, 1585, 1610, 1710, 2082], 'genes': [214, 752, 785, 989, 1711, 2631], 'with': [215, 239, 441, 443, 543, 598, 627, 646, 658, 679, 811, 918, 944, 1056, 1147, 1170, 1180, 1412, 1440, 1519, 1548, 1550, 1563, 1597, 1605, 1639, 1645, 1856, 1876, 1942, 1989, 2042, 2078, 2101, 2136, 2384, 2515, 2848], 'TOF.': [216], 'This': [217, 686, 1662, 3075], 'was': [219, 481, 509, 527, 563, 655, 675, 839, 1505, 1695, 1779, 2175], 'calculated': [220], 'have': [222, 385, 757, 1115, 1157, 1165, 1186, 1241, 1293, 1512, 1566, 1766, 1802, 1892, 1909, 1968], 'per-allele': [224], 'risk': [225, 231, 406, 472, 485, 508, 519, 689, 2298, 2927], '1.34': [227], 'population-attributable': [230, 518], 'roughly': [233, 890], '5%.': [234], 'If': [235, 1730], 'study,': [237, 1036], 'undertaken': [238], 'British': [240], 'white': [241], 'subjects,': [242], 'can': [243, 295, 861, 1415, 2155], 'be': [244, 863, 1029, 1039, 1080, 1112, 1307, 1323, 1405, 1410, 1480, 1484, 1531, 1555, 1591, 1687, 2034, 2156, 2165, 3016, 3025, 3042, 3057], 'replicated': [245, 1324], 'in': [246, 255, 299, 409, 446, 457, 478, 538, 602, 651, 701, 722, 735, 761, 852, 880, 925, 981, 996, 1008, 1086, 1089, 1259, 1291, 1318, 1325, 1601, 1615, 1735, 1776, 1809, 1872, 1947, 1979, 1993, 2006, 2177, 2209, 2291, 2338, 2346, 2382, 2419, 2449, 2478, 2513, 2565, 2634, 2852, 2889, 2966, 3005, 3012, 3038], 'additional': [247, 2039], 'populations,': [248], 'it': [249, 572, 897, 939, 1037, 1368, 1386], 'will': [250, 1111, 2086, 2163, 3023, 3041], 'represent': [251], 'significant': [253, 1865, 1983], 'advance': [254], 'our': [256, 334], 'understanding': [257, 335], 'genetics': [260, 1088, 1618, 2065, 2170], 'congenital': [262, 2413, 2446, 2475, 2493, 2521, 2562, 2896, 2929, 2946], 'heart': [263, 649, 1374, 1851, 2414, 2447, 2476, 2494, 2522, 2563, 2897, 2930, 2947], 'defects': [264, 291, 721, 2477, 2564], '(CHD).Article': [265], 'see': [266], 'p': [267], '287The': [268], 'architecture': [270], 'CHD': [272, 370, 384, 408, 444, 456, 477, 491, 526, 628, 642, 714, 754, 933, 945, 1292, 1333, 1357, 1393, 1424, 1445, 1520, 1535, 1549, 1564, 1577, 1598, 1617, 1857, 1871, 1931, 1967, 1990, 2037, 2064, 2083, 2154, 2169], 'has': [273, 283, 898, 1092, 1263, 1275, 1641, 1674], 'been': [274, 284, 758, 1093, 1116, 1158, 1242, 1277, 1643, 1768, 1910, 1969], 'source': [276], 'considerable': [278], 'debate': [279, 1614], 'uncertainty.': [281], 'It': [282], 'known': [285, 366], 'some': [287, 352, 1183, 1525, 1584], 'time': [288], 'that': [289, 469, 507, 585, 779, 805, 901, 942, 976, 1164, 1288, 1372, 1389, 1536, 1636, 1737, 1975, 2145, 2161], 'chromosomal': [290, 515, 1051, 2552], 'single-gene': [293], 'mutations': [294, 315, 712, 764], 'cause': [296, 792, 1382, 2341, 2560], 'CHD,': [297, 344, 537, 597, 680, 772, 1069, 1491, 1771, 2053, 2102], 'often': [298, 645, 987], 'context': [301], 'multisystem': [304], 'disease.': [305, 2523, 2670, 2898, 2948], 'For': [306, 968, 1486], 'TOF,': [307, 1744, 1831], 'examples': [308], 'include': [309], 'trisomy': [310], '21': [311], 'TBX5': [313, 2340], 'point': [314], 'Down': [317], 'Holt-Oram': [319, 2347], 'syndromes,': [320], 'respectively.2': [321], 'The': [322, 483, 1155, 1933, 1956, 3321], 'discovery': [323, 2130], '22q11': [325, 1016, 1380, 2380], 'microdeletions,': [326], 'usually': [327], 'arising': [328], 'de': [329, 2534], 'novo,': [330], 'added': [331], 'significantly': [332, 403, 905], 'underpinnings': [339], 'conotruncal': [341, 500, 1384, 2385], 'forms': [342, 595, 1391, 1489, 2051], 'as': [345, 391, 412, 728, 913, 1266, 1314, 1427, 1464, 1499, 1719, 2024, 2196, 2198, 3046], 'these': [346, 365, 719, 763, 773, 796], 'account': [347, 374, 765], 'substantial': [349, 574, 1073], 'percentages': [350], 'cardiac': [353, 783, 1067, 2344], 'lesions': [354, 1375], '(eg,': [355, 1379, 1570], '34%': [356], 'truncus': [358], 'arteriosus': [359, 601], '16%': [361, 641], 'TOF).3': [363], 'Nonetheless,': [364], 'causes': [368, 2667], 'are': [371, 398, 428, 434, 957, 979, 1046, 1194, 1284, 1431, 1450, 1733, 1773, 2054, 2148, 2212, 2557, 2970, 2979, 2989, 2994, 3002, 3009, 3029], 'estimated': [372, 1676], 'less': [376], 'than': [377, 445, 1218, 3019], '20%': [378], 'cases': [380, 548, 1137], 'overall.Epidemiological': [381], 'studies': [382, 920, 1106, 1209, 1348, 1449, 1801, 1891, 1908, 1914, 1962, 1978, 2012], 'strongly': [386], 'pointed': [387], 'factors': [390, 545, 1468], 'predominant': [393], 'cause,': [394], 'although': [395], 'environmental': [396, 544], 'exposures': [397], 'also': [399, 1187, 1927], 'relevant.': [400], 'Parental': [401, 2443], 'consanguinity': [402, 433, 2444], 'increases': [404], 'offspring,': [410, 653], 'probably': [411, 1285], 'result': [414], 'shared': [417], 'background': [419], 'unaffected': [421], 'parents.4': [422], 'In': [423, 609, 2134, 3069], 'countries': [424], 'where': [425, 459], 'consanguineous': [426], 'marriages': [427], 'customary,': [429], 'rates': [431], '2-': [435], '3-fold': [437], 'higher': [438], 'among': [439, 2092], 'couples': [440], 'offspring': [442, 662], 'general': [448], 'population.4,5': [449], 'Moreover,': [450, 1356], 'recent': [452, 1090, 1972], 'population-based': [453], 'Denmark,': [458], 'nation-wide': [461], 'medical': [462], 'registry': [463], 'enabled': [464, 1117], 'nearly': [465, 593, 1487], 'complete': [466, 1602], 'ascertainment,': [467], 'revealed': [468, 1974], 'relative': [471, 1481], 'any': [474, 1315], 'form': [475, 489], 'first-degree': [479], 'relatives': [480], '3.2.6': [482], 'recurrence': [484, 643, 663, 681], 'same': [488, 648, 1398], 'varied': [492], 'by': [493, 552, 800, 1002, 1118, 1466, 1697, 1795, 2179, 2555], 'lesion': [495, 497, 838], 'or': [496, 557, 724, 847, 872, 1215, 1503, 1703, 1706, 1756, 2045, 2219], 'class;': [498], 'defects,': [501, 516, 1365, 3355], 'TOF': [504, 812, 969, 1011, 1035, 1057, 1624, 1640, 2080], 'is': [505, 934, 940, 1232, 1339, 1349, 1369, 1387, 1446, 1462, 1722, 1727, 1741, 1937], 'one,': [506], '11.7.': [510], 'Finally,': [511], 'after': [512, 826, 1229], 'exclusion': [513], 'given': [520, 2072], 'positive': [522, 1316, 1671, 1683], 'family': [523], 'history': [524], '4.2%.In': [528], '1960s,': [530], 'Nora7': [531], 'proposed': [532], 'multifactorial': [534, 561, 613], 'model': [535, 562, 614], 'polygenic': [540, 588, 659], 'inheritance': [541, 589, 660, 2487], 'combined': [542], 'would': [546, 1028, 1038, 1511, 1526, 1554, 1748], 'underlie': [547], 'not': [549, 1019, 1237, 1276, 1728, 1767, 2005, 2014, 2213, 2971, 2990, 3003, 3010], 'readily': [550, 2157], 'explained': [551], 'aneuploidy,': [553], 'mendelian': [554, 723], 'mutations,': [556], 'teratogens.': [558], 'Although': [559, 1367], '(and': [564], 'is)': [565], 'broadly': [566], 'popular': [567], 'complex': [569, 1081, 2669], 'traits,': [571], 'encountered': [573], 'problems': [575], 'when': [576, 671, 755, 1991], 'applied': [577], 'CHD.': [579, 793, 1282], 'Specifically,': [580], 'most': [581, 959, 986, 1109], 'predictions': [584], 'flow': [586], 'proved': [590, 745], 'untrue': [591], 'all': [594, 1390, 1395, 1488], 'patent': [599], 'ductus': [600], 'full-term': [603], 'newborns': [604], 'being': [605, 935, 1793], 'singular': [607], 'exception.': [608], '1980s,': [611, 703], 'took': [615], 'broadside': [617], 'hit': [618], 'groundbreaking': [621], 'work': [622, 2069, 2174], 'Whittemore.8': [624], 'Studying': [625], 'women': [626, 2514], 'who': [629, 2085], 'had': [630], 'survived': [631], 'adulthood': [633], 'were': [635, 683, 1013], 'having': [636], 'children,': [637], 'Whittemore': [638, 2503], 'observed': [639], 'rate,': [644], 'lesion,': [650], 'those': [652, 2215], 'wholly': [656], 'inconsistent': [657], '(expected': [661], 'rate': [664], '2%': [666], '3%).': [668], 'Of': [669, 994], 'interest,': [670], 'comparable': [673, 1330], 'examined': [676, 1835], 'fathers': [678, 1996], 'risks': [682], 'substantially': [684], 'lower.': [685], 'sex-specific': [687], 'transmission': [688], 'remains': [690], 'unexplained': [691], 'present': [694, 980, 1992], 'day.With': [695], 'advent': [697], 'positional': [699], 'cloning': [700], 'we': [704], 'investigators': [707], 'chose': [708], 'elucidate': [710], 'gene': [711, 1843, 1905, 2294], 'causing': [713, 753, 1534], 'using': [715, 869], 'rare': [716, 2146], 'families': [717], 'inheriting': [718], 'birth': [720], 'near-mendelian': [725], 'fashion,': [726], 'generally': [727, 1102, 1328], 'part': [729, 2178], 'syndrome': [732], 'but': [733, 1018, 1926, 2004, 2038], 'sometimes': [734], 'isolation.': [736], 'As': [737, 1108, 1300, 1630], 'Human': [739], 'Genome': [740], 'Project': [741], 'progressed,': [742], 'strategy': [744], 'robust—in': [746], 'past': [748], '20': [749], 'years,': [750], 'numerous': [751, 1359], 'mutated': [756], 'identified.': [759], 'While': [760], 'aggregate,': [762], 'relatively': [768], 'modest': [769, 1234, 1552, 1823, 1877], 'percentage': [770], 'discoveries': [774], 'provided': [775], 'first': [777, 1751], 'evidence': [778, 1666], 'altered': [780], 'dosages': [781], 'developmental': [784], 'encoding': [786, 1844], 'transcription': [787, 1846], 'factor': [788, 1847], 'signaling': [790, 817], 'molecules': [791], 'Capitalizing': [794], 'on': [795, 865, 1245, 1894, 1912, 2048, 3050], 'observations,': [797], 'proposes': [804], 'may': [813, 1257, 2033], 'involve': [814], 'important': [816, 1723, 2149], 'molecule,': [818], 'SHP2.In': [823], 'era': [825], 'sequencing': [828], 'human': [831, 894, 1076, 1087, 1128, 1175, 2339, 2895], 'genome,': [832, 1129], 'new': [834, 2630], 'type': [835, 1654], 'discovered:': [840], 'copy': [841, 2626], 'variation': [843, 2888], '(CNV).': [844], 'These': [845, 1907], 'gains': [846], 'losses': [848], 'DNA': [850, 2141], 'range': [851], 'size': [853, 1204, 1459, 1474, 1813], '1': [855, 1705], 'kb': [856], 'several': [858, 1774, 1796, 1836, 2093], "Mb's": [859], 'now': [862, 1210, 2096], 'assayed': [864], 'genome-wide': [867, 1020, 1104, 2842], 'basis': [868], 'microarrays': [871], 'array': [873, 1173], 'comparative': [874], 'genomic': [875], 'hybridization.': [876], 'Significant': [877], 'challenges': [878], 'remain': [879], 'differentiating': [881], 'pathological': [882, 902, 930, 963, 977, 1044, 2123], 'CNVs': [883, 903, 931, 964, 978, 1045, 2124], 'benign': [885], 'polymorphic': [886], 'ones,': [887], 'affect': [889, 1065], '10%': [891, 983], 'genome.': [895], 'Nevertheless,': [896], 'become': [899, 1188], 'clear': [900, 941, 1371, 1752], 'contribute': [904], 'pathogenesis': [908], 'certain': [910, 1373], 'phenotypes': [911, 1360], 'such': [912, 1347, 1718, 1800], 'autism': [914], 'schizophrenia.': [916], 'Starting': [917], 'Thienpont': [922, 2530], '2007,9': [926], 'importance': [928, 1074], 'elucidated.': [936], 'So': [937], 'far,': [938], 'children': [943, 2077], 'plus': [946], 'involvement': [947], 'organ': [950, 1586], 'systems,': [951], 'particularly': [952, 1897], 'central': [954], 'nervous': [955], 'system,': [956], 'likely': [960], 'harbor': [962], '(upwards': [965], '25%).': [967], 'specifically,': [970], 'one': [971], 'us': [973], '(C.E.S.)': [974], 'documented': [975], 'approximately': [982], 'patients,': [985], 'altering': [988, 1700], 'encoded': [990], '1q21.1.10': [993], 'relevance': [995], 'assessing': [997], 'current': [999, 1621, 1828], 'colleagues,': [1005], 'subjects': [1007, 1345, 2100], 'their': [1009, 1026, 1295], 'two': [1010, 1062], 'cohorts': [1012, 1027, 1135, 1193, 1305, 1313, 1403, 1461, 1816, 1855, 2044, 2098], 'screened': [1014], 'deletions': [1017, 1381, 2381], 'CNVs.': [1022], 'That': [1023, 1557], 'information': [1024], 'about': [1025], 'interesting—aside': [1030], 'replicating': [1032], 'prior': [1034], 'fascinating': [1040], 'know': [1042], 'whether': [1043, 1528], 'mutually': [1047], 'exclusive': [1048], 'haplotype': [1053, 1635, 1663], 'or,': [1058], 'alternatively,': [1059], 'if': [1060], 'interact': [1063], 'phenotype.Like': [1068], 'many': [1070, 1206, 1230], 'disorders': [1071, 1176, 1650], 'health': [1077], 'appear': [1078], 'genetically.': [1082], 'A': [1083, 1971, 2841], 'major': [1084], 'focus': [1085], 'years': [1091], 'exploration': [1095], 'disease/common': [1099], 'variant': [1100, 1478, 1561, 1595, 1607, 1699, 1740, 1762, 2290], 'hypothesis,': [1101], 'through': [1103, 2128, 2167], '(GWAS).': [1107], 'readers': [1110], 'aware,': [1113], 'GWAS': [1114, 1163, 1198, 1231, 1280, 1302, 1408, 1435, 1443, 1537, 1765], 'identification': [1120], 'large': [1122, 1134, 1153, 1192, 1304, 1312, 1482, 2094], 'numbers': [1123], 'SNPs': [1125, 1168, 1821, 1837], 'spanning': [1126], 'robust': [1130, 2129], 'technologies': [1131], 'genotyping': [1133], 'controls,': [1139], 'development': [1142], 'statistical': [1144, 1807, 2021], 'tools': [1146], 'analyze': [1150], 'resulting': [1152], 'datasets.': [1154], 'spectacular': [1160], 'parade': [1161], 'successfully': [1166], 'identified': [1167], 'broad': [1172], 'traits.': [1178, 1355], 'Along': [1179], 'hoopla,': [1182], 'unpleasant': [1184], 'realities': [1185], 'apparent.': [1189], 'First,': [1190], 'very': [1191, 1506], 'required': [1195, 1817], 'power': [1197, 2138], 'adequately': [1199], 'typical': [1202], 'effect': [1203, 1473, 1553], 'SNPs—many': [1208], 'use': [1211, 2983], 'tens': [1212], 'thousands': [1214], 'even': [1216], 'more': [1217, 1579, 1707, 2046], '100': [1219], '000': [1220], 'cases.': [1221], 'Second,': [1222], 'aggregate': [1224, 1980], 'variance': [1226], 'accounted': [1227], 'quite': [1233, 1497], 'does': [1236], 'approach': [1238], 'what': [1239, 1260], 'might': [1240, 1565], 'predicted': [1243], 'based': [1244], 'heritability': [1246, 2660], 'estimates,': [1247], 'leading': [1248, 1758], 'concept': [1251], '"missing': [1254], 'heritability,"11': [1255], 'reside': [1258, 1600], 'Francis': [1261], 'Collins': [1262], 'referred': [1264], 'dark': [1268], 'matter': [1269], 'genome.12To': [1272], 'date,': [1273, 1885], 'there': [1274, 1430, 1529, 1589, 1772], 'published': [1279, 2965, 3004], 'There': [1283], '2': [1286, 1311], 'reasons': [1287], 'geneticists': [1289], 'interested': [1290], 'lagged': [1294], 'disorders.': [1299], 'noted,': [1301, 1633], 'require': [1303], 'powered': [1308], 'properly': [1309], '(actually,': [1310], 'initial': [1320], 'cohort': [1321], 'need': [1322], 'second,': [1327], 'size).': [1331], 'Since': [1332], 'prevalence': [1334, 2075], '(excluding': [1335], 'bicuspid': [1336], 'aortic': [1337], 'valve)': [1338], 'just': [1340], 'under': [1341], '1%,': [1342], 'available': [1344], 'restricted': [1350], 'compared': [1351], 'comprises': [1358], '(TOF,': [1361], 'heterotaxy,': [1362], 'ventricular': [1363], 'septal': [1364], 'etc).': [1366], 'already': [1370], 'share': [1376, 1394], 'etiology': [1378, 2491], 'various': [1383], 'defects),': [1385], 'unlikely': [1388], 'causes.': [1400], 'Hence,': [1401], 'studied': [1406], 'must': [1409, 1479, 2066], 'assembled': [1411], 'care': [1413], 'only': [1416, 3024], 'draw': [1417], 'subset': [1420], 'entire': [1423], 'population.': [1425], 'Taken': [1426, 2023], 'whole,': [1429, 2026], 'barriers': [1432], 'undertaking': [1434], 'CHD.The': [1437], 'second': [1438, 1850], 'concern': [1439], 'respect': [1441], 'theoretical.': [1447], 'Such': [1448], 'designed': [1451], 'detect': [1453, 1819], 'variants.': [1456], 'When': [1457], 'modest,': [1463], 'dictated': [1465], 'noted': [1469], 'above,': [1470], 'then': [1471, 1745], 'detectable.': [1485], 'reproductive': [1492, 2089], 'fitness': [1493], 'approached': [1494], 'zero': [1495], 'until': [1496], 'recently,': [1498], 'death': [1500], 'during': [1501], 'infancy': [1502], 'childhood': [1504], 'high.': [1507], 'Thus,': [1508, 1524], 'purifying': [1509], 'selection': [1510], 'acted': [1513], 'powerfully': [1514], 'eliminate': [1516], 'whenever': [1521], 'arose.': [1523], 'question': [1527], 'could': [1530, 1538, 1590, 1599], 'detect.The': [1539], 'counterargument': [1540], 'favoring': [1541], 'existence': [1543], 'perhaps': [1551, 2017, 2041], 'pleiotropy.': [1556], 'is,': [1558], 'other,': [1567], 'beneficial': [1568], 'effects': [1569], 'tradeoff': [1572], 'between': [1573, 2921], 'occasional': [1575], 'lethal': [1576], 'versus': [1578], 'frequent': [1580, 2559], 'enhanced': [1581], 'function': [1582], 'system).': [1587], 'Alternatively,': [1588], 'hitchhiking—the': [1592], 'weakly': [1593], 'unfavorable': [1594], 'linkage': [1603, 1716], 'disequilibrium': [1604, 1717], 'another': [1606], 'favorable': [1608], 'function(s).To': [1611], 'ongoing': [1613], 'community,': [1619], 'provides': [1625], 'potentially': [1627], 'illustrative': [1628], 'example.1': [1629], 'authors': [1632, 1732], 'previously': [1642], 'variety': [1647], 'autoimmune': [1649, 1693], 'including': [1651, 2103], 'diabetes': [1652], 'mellitus': [1653], 'I,': [1655, 2797, 3214, 3231], 'celiac': [1656], 'disease,': [1657], 'systemic': [1659], 'lupus': [1660], 'erythematosus.': [1661], 'shows': [1664], 'strong': [1665], 'selective': [1668], 'sweep': [1669], '(ie,': [1670], 'selection)': [1672], 'age': [1677], '3400': [1679], 'years.13': [1680], 'Whether': [1681], 'selection,': [1684], 'postulated': [1685], 'immunologic': [1688], 'due': [1689, 2018], 'disorders,': [1694], 'driven': [1696], 'PTPN11': [1701, 1739, 2293], 'expression': [1702], 'instead': [1704], 'affecting': [1709], 'within': [1712], 'region': [1714], 'SH2B3,': [1720], 'T-cell': [1725], 'signaling,': [1726], 'clear.': [1729], 'correct': [1734], 'surmising': [1736], 'critical': [1742, 1848], 'provide': [1749, 2115], 'example': [1753], 'pleiotropy': [1755], 'hitchhiking': [1757], 'CHD.Although': [1764], 'completed': [1769], 'publications': [1775], 'sought': [1780], 'SNPs.': [1786], 'reducing': [1788, 1811], 'hypotheses': [1792], 'posed': [1794], 'orders': [1797], 'magnitude,': [1799], 'lower': [1803], 'nominal': [1804], 'thresholds': [1805], 'significance,': [1808, 2016], 'turn': [1810], 'effect.': [1824], 'Prior': [1825], 'Stevens': [1832, 2861], 'colleagues14': [1834], 'capturing': [1838], 'ISL1,': [1841], 'field': [1852, 2062], 'development.': [1853], 'Using': [1854], 'putatively': [1858], 'relevant': [1859, 2035, 2050], 'ISL1': [1861, 2890], 'function,': [1862], 'found': [1864], 'associations': [1866], 'separate': [1868], 'whites': [1873], 'African-Americans': [1875], 'odds': [1878], 'ratios': [1879, 1998], '(1.27': [1880], '1.57,': [1882], 'respectively).': [1883], 'To': [1884], 'awaits': [1888], 'replication.Several': [1889], 'focused': [1893, 2047], 'folate': [1895, 1917, 1954], 'metabolism,': [1896], 'C667T': [1899, 1935, 1965, 2031], 'polymorphism': [1900, 2924], 'methylenetetrahydrofolate': [1903], 'reductase': [1904], '(MTHFR).': [1906], 'premised': [1911], 'epidemiological': [1913], 'maternal': [1916], 'supplementation,': [1918], 'used': [1919], 'reduce': [1921, 1930], 'neural': [1922], 'tube': [1923], 'defect': [1924], 'incidence': [1925], 'shown': [1928], 'incidence.': [1932], 'MTHFR': [1934, 1964, 2030, 2922], 'cSNP': [1936], 'nonsynonymous,': [1938], 'substituting': [1939], 'alanine': [1941], 'valine,': [1944], 'thermolabile': [1949], 'enzyme,': [1950], 'reduces': [1952], 'blood': [1953], 'levels.': [1955], 'findings': [1957], 'case-control': [1959, 1977, 2417], 'family-based': [1961, 2011], 'inconsistent.': [1970], 'meta-analysis': [1973, 2843], '(n=20)': [1981], 'achieved': [1982], 'TT': [1987], 'genotype': [1988], 'fetuses': [1994], '(odds': [1997], '1.55': [2000], '1.84,': [2002], 'respectively)': [2003], 'mothers.15': [2007], 'Meta-analysis': [2008], 'three': [2010], 'did': [2013], 'achieve': [2015], 'poor': [2020], 'power.': [2022], 'homozygosity': [2027], 'allele': [2032], 'studies,': [2040], 'larger': [2043], 'needed': [2055], 'determine': [2057], 'definitively.Moving': [2059], 'forward,': [2060], 'continue': [2067], 'begun': [2070], 'already—especially': [2071], 'increasing': [2074], 'corrected': [2079], 'lesions,16': [2084], 'soon': [2087, 2164], 'reach': [2088], 'ages.': [2090], 'Collaboration': [2091], 'consortia': [2095], 'assembling': [2097], 'National': [2105, 2180], 'Heart,': [2106, 2181], 'Lung,': [2107, 2182], 'Blood': [2109, 2184], 'Institute–funded': [2110], 'Pediatric': [2111], 'Consortium,17': [2114], 'unprecedented': [2116], 'opportunities': [2117], 'define': [2119], 'roles': [2121], 'replications': [2132], 'studies.': [2133], 'addition,': [2135], 'high-throughput': [2140], 'sequencing,': [2142], 'hypothesis': [2144, 2488], 'etiologies': [2152], 'tested.': [2158], 'We': [2159], 'hope': [2160], 'light': [2162], 'streaming': [2166], 'porthole.Sources': [2171], 'FundingThis': [2173], 'supported': [2176], 'grants': [2186], 'HL098123': [2187], '(to': [2188, 2193, 2204], 'Dr': [2189, 2194, 2205], 'Gelb)': [2190], 'HL098147': [2192], 'Seidman),': [2195], 'well': [2197], 'Seidman).DisclosuresNone.FootnotesThe': [2206], 'opinions': [2207], 'expressed': [2208], 'article': [2211, 2963, 3036], 'necessarily': [2214], 'editors': [2218], 'American': [2222, 3346], 'Association.Correspondence': [2224], 'Gelb,': [2228], 'MD,': [2229], 'One': [2235], 'Gustave': [2236], 'Levy': [2237], 'Place,': [2238], 'Box': [2239], '1040,': [2240], '10029.': [2244], 'E-mail': [2245], '[email protected].': [2246], 'JA,': [2248, 2318], 'Hall': [2249, 2742], 'D,': [2250, 2274, 2322, 2367, 2540, 2713, 3196, 3198, 3202, 3222, 3239, 3269, 3275], 'Topf': [2251], 'A,': [2252, 2652, 2689, 2691, 2723, 2834, 2882, 3134, 3164, 3166, 3210, 3216, 3224, 3237, 3251], 'Mamasoula': [2253], 'C,': [2254, 2272, 2693, 2747, 2816, 2832, 3085, 3140, 3148, 3170, 3229, 3277, 3291, 3310], 'Griffin': [2255], 'H,': [2256, 2262, 2434, 2771, 2785, 2805, 2864, 2911, 3138, 3182, 3235, 3283], 'Rahman': [2257], 'TJ,': [2258], 'Glen': [2259], 'E,': [2260, 2324, 2355, 2587, 3119, 3136, 3154, 3176, 3212, 3257, 3312], 'Tan': [2261], 'Doza': [2263], 'JP,': [2264, 2544], 'Relton': [2265], 'CL,': [2266], 'Bentham': [2267], 'J,': [2268, 2276, 2280, 2284, 2320, 2328, 2371, 2405, 2468, 2648, 2721, 2781, 2789, 2791, 2799, 2828, 2874, 2909, 2913, 3121, 3124, 3128, 3146, 3156, 3162, 3168, 3174, 3180, 3188, 3204, 3206, 3249, 3281, 3298, 3300, 3306, 3314], 'Bhattacharya': [2269], 'S,': [2270, 2597, 2711, 2717, 2783, 2820, 2872, 2941, 3144, 3160, 3178, 3192, 3263], 'Cosgrove': [2271], 'Brook': [2273], 'Granados-Riveron': [2275], "Bu'Lock": [2277], 'FA,': [2278], "O'Sullivan": [2279], 'Stuart': [2281], 'AG,': [2282], 'Parsons': [2283], 'Cordell': [2285], 'HJ,': [2286], 'Keavney': [2287], 'B.': [2288], 'Common': [2289, 2887], 'contributes': [2295], 'Fallot.': [2302, 2639], 'Circ': [2303], 'Cardiovasc': [2304], 'Genet.': [2305, 2350, 2641, 2673, 2857, 2934], '2012;': [2306, 2935], '5:287–292.LinkGoogle': [2307], 'Scholar2.': [2308], 'Basson': [2309], 'CT,': [2310], 'Bachinsky': [2311], 'DR,': [2312], 'Lin': [2313, 2578], 'RC,': [2314], 'Levi': [2315], 'T,': [2316, 2536, 2749, 3308], 'Elkins': [2317], 'Soults': [2319], 'Grayzel': [2321], 'Kroumpouzou': [2323], 'Traill': [2325], 'TA,': [2326], 'Leblanc-Straceski': [2327], 'Renault': [2329], 'B,': [2330, 2531, 2538, 2687, 2695, 3113, 3172, 3220], 'Kucherlapati': [2331], 'R,': [2332, 2504, 2725, 2739, 2755, 2777, 3126, 3158, 3208, 3218, 3233, 3245, 3259, 3265, 3279], 'JG,': [2334, 2621, 2878], 'CE.': [2336, 2623], 'Mutations': [2337], 'limb': [2342], 'malformation': [2345], 'syndrome.': [2348], 'Nat': [2349, 2640, 2671, 2856], '1997;': [2351], '15:30–35.CrossrefMedlineGoogle': [2352], 'Scholar3.': [2353], 'Goldmuntz': [2354, 3118, 3175], 'Clark': [2356], 'BJ,': [2357], 'Mitchell': [2358, 3185], 'LE,': [2359], 'Jawad': [2360], 'AF,': [2361, 2826], 'Cuneo': [2362], 'BF,': [2363, 2703], 'Reed': [2364], 'L,': [2365, 2533, 2602, 2697, 2767, 2907, 3130, 3142, 3184, 3186, 3273], 'McDonald-McGinn': [2366], 'Chien': [2368], 'P,': [2369, 2701, 2705, 2836, 3190, 3285], 'Feuer': [2370], 'Zackai': [2372], 'EH,': [2373], 'Emanuel': [2374], 'BS,': [2375], 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'50:641–651.CrossrefMedlineGoogle': [2528], 'Scholar9.': [2529], 'Mertens': [2532], 'Ravel': [2535], 'Eyskens': [2537], 'Boshoff': [2539], 'Maas': [2541], 'Fryns': [2543], 'Gewillig': [2545], 'Vermeesch': [2547], 'JR,': [2548, 2715, 2801], 'Devriendt': [2549], 'K.': [2550], 'Submicroscopic': [2551], 'imbalances': [2553], 'detected': [2554], 'array-CGH': [2556], 'selected': [2566], 'patients.': [2567], 'Eur': [2568], 'J.': [2570, 2951], '2007;': [2571], '28:2778–2784.CrossrefMedlineGoogle': [2572], 'Scholar10.': [2573], 'Greenway': [2574], 'SC,': [2575, 2769], 'Pereira': [2576], 'AC,': [2577], 'DePalma': [2580], 'SR,': [2581], 'Israel': [2582], 'SJ,': [2583], 'Mesquita': [2584], 'SM,': [2585, 2654, 2787], 'Ergul': [2586], 'Conta': [2588], 'JH,': [2589, 2656], 'Korn': [2590], 'JM,': [2591, 2595], 'McCarroll': [2592], 'SA,': [2593], 'Gorham': [2594], 'Gabriel': [2596], 'Altshuler': [2598, 2712], 'DM,': [2599], 'Quintanilla-Dieck': [2600], 'Mde': [2601], 'Artunduaga': [2603], 'MA,': [2604], 'Eavey': [2605], 'RD,': [2606], 'Plenge': [2607], 'RM,': [2608], 'Shadick': [2609], 'NA,': [2610, 2807], 'Weinblatt': [2611], 'ME,': [2612], 'De': [2613, 2624], 'Jager': [2614], 'PL,': [2615], 'Hafler': [2616], 'DA,': [2617, 2814], 'Breitbart': [2618, 3157, 3264], 'RE,': [2619], 'novo': [2625], 'identify': [2629], 'loci': [2633, 2846], 'isolated': [2635], 'sporadic': [2636], '41:931–935.CrossrefMedlineGoogle': [2643], 'Scholar11.': [2644], 'Eichler': [2645], 'EE,': [2646], 'Flint': [2647], 'Gibson': [2649], 'Kong': [2651], 'Leal': [2653], 'Moore': [2655], 'Nadeau': [2657], 'JH.': [2658], 'Missing': [2659], 'strategies': [2662], 'finding': [2664], 'Rev': [2672], '2010;': [2674, 2901], '11:446–450.CrossrefMedlineGoogle': [2675], 'Scholar12.': [2676], 'http://blogs.scientificamerican.com/guest-blog/2010/06/25/a-genome-story-10th-anniversary-commentary-by-francis-collins/;': [2677], '2010.Google': [2678], 'Scholar13.': [2679], 'Soranzo': [2680], 'Spector': [2682], 'TD,': [2683], 'Mangino': [2684], 'Kuhnel': [2686], 'Rendon': [2688], 'Teumer': [2690], 'Willenborg': [2692], 'Wright': [2694], 'Chen': [2696], 'Li': [2698], 'Salo': [2700], 'Voight': [2702], 'Burns': [2704, 3149], 'Laskowski': [2706], 'RA,': [2707], 'Xue': [2708], 'Y,': [2709], 'Menzel': [2710], 'Bradley': [2714], 'Bumpstead': [2716], 'Burnett': [2718], 'MS,': [2719, 2763], 'Devaney': [2720], 'Doring': [2722], 'Elosua': [2724], 'Epstein': [2726], 'SE,': [2727], 'Erber': [2728], 'W,': [2729, 3117, 3194, 3289], 'Falchi': [2730], 'Garner': [2732], 'SF,': [2733], 'Ghori': [2734], 'MJ,': [2735], 'Goodall': [2736], 'AH,': [2737], 'Gwilliam': [2738], 'Hakonarson': [2740, 2863, 3181, 3282], 'HH,': [2741], 'AS,': [2743], 'Hammond': [2744], 'Hengstenberg': [2746], 'Illig': [2748], 'Konig': [2750], 'IR,': [2751], 'Knouff': [2752], 'CW,': [2753], 'McPherson': [2754], 'Melander': [2756], 'O,': [2757], 'Mooser': [2758], 'V,': [2759, 2779, 2880, 3302], 'Nauck': [2760], 'Nieminen': [2762], "O'Donnell": [2764], 'CJ,': [2765], 'Peltonen': [2766], 'Potter': [2768], 'Prokisch': [2770], 'Rader': [2772], 'DJ,': [2773], 'Rice': [2774], 'CM,': [2775], 'Roberts': [2776, 3133, 3165], 'Salomaa': [2778], 'Sambrook': [2780], 'Schreiber': [2782], 'Schunkert': [2784], 'Schwartz': [2786], 'Serbanovic-Canic': [2788], 'Sinisalo': [2790], 'Siscovick': [2792], 'DS,': [2793], 'Stark': [2794], 'Surakka': [2796], 'Stephens': [2798], 'Thompson': [2800], 'Volker': [2802], 'U,': [2803], 'Volzke': [2804], 'Watkins': [2806], 'Wells': [2808], 'GA,': [2809], 'Wichmann': [2810], 'HE,': [2811], 'Van': [2812], 'Heel': [2813], 'Tyler-Smith': [2815], 'Thein': [2817], 'SL,': [2818], 'Kathiresan': [2819], 'Perola': [2821], 'Reilly': [2823], 'MP,': [2824], 'Stewart': [2825], 'Erdmann': [2827], 'Samani': [2829], 'NJ,': [2830], 'Meisinger': [2831], 'Greinacher': [2833], 'Deloukas': [2835], 'Ouwehand': [2837], 'WH,': [2838], 'Gieger': [2839], 'C.': [2840], 'identifies': [2844], 'eight': [2849], 'hematological': [2850], 'parameters': [2851], 'HaemGen': [2854], 'consortium.': [2855], '41:1182–1190.CrossrefMedlineGoogle': [2859], 'Scholar14.': [2860], 'KN,': [2862], 'Kim': [2865, 3125, 3258], 'CE,': [2866], 'Doevendans': [2867], 'PA,': [2868], 'Koeleman': [2869], 'BP,': [2870], 'Mital': [2871], 'Raue': [2873], 'Glessner': [2875], 'JT,': [2876], 'Coles': [2877], 'Moreno': [2879], 'Granger': [2881], 'Gruber': [2883, 2885, 3238], 'SB,': [2884], 'PJ.': [2886], 'confers': [2891], 'susceptibility': [2893], 'PLoS': [2899], 'One.': [2900], '5:e10855.CrossrefMedlineGoogle': [2902], 'Scholar15.': [2903], 'Yin': [2904], 'Dong': [2906], 'Zheng': [2908], 'Zhang': [2910], 'Liu': [2912], 'Xu': [2914], 'Z.': [2915], 'Meta': [2916], 'analysis': [2917], 'C677T': [2923], 'Ann': [2932], 'Hum': [2933], '76:9–16.CrossrefMedlineGoogle': [2936], 'Scholar16.': [2937], 'Hoffman': [2938], 'JI,': [2939], 'Kaplan': [2940], 'Liberthson': [2942], 'RR.': [2943], 'Prevalence': [2944], '2004;': [2952], 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