Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological?

Name: Work Video:
Duration: 3 min 30 s
Przemysław Szafrański; Christian P. Schaaf; Richard Person; Ian B. Gibson; Zhilian Xia; Sangeetha Mahadevan; Joanna Wiszniewska; Carlos A. Bacino; Seema R. Lalani; Lorraine Potocki; Sung-Hae L. Kang; Ankita Patel; Sau Wai Cheung; Frank J. Probst; Brett H. Graham; Marwan Shinawi; Arthur L. Beaudet; Paweł Stankiewicz
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[998], 'We': [999, 1035, 1076, 1101], 'investigated': [1001], 'four': [1002, 1053], '∼1.6-Mb': [1003, 1081], '55': [1006], 'smaller': [1007], '350–680-kb': [1008], 'at': [1010, 1045, 1177, 1246, 2273, 2297, 2534], '15q13.2–q13.3': [1011], 'CHRNA7': [1014, 1130], 'gene': [1015, 1705, 3036], 'that': [1016, 1042, 1095, 1103, 1132, 1153, 2064, 3512], 'were': [1017, 1043], 'detected': [1018], 'clinical': [1020, 1175, 2695, 3436], 'microarray': [1021, 2176], 'analysis.': [1022], 'Applying': [1023], 'high-resolution': [1024], 'array-CGH,': [1025], 'we': [1026, 1151], 'mapped': [1027], 'all': [1028, 2223], '118': [1029], 'chromosomal': [1030, 1957, 2111, 2175], 'breakpoints': [1031, 1041, 2274], 'these': [1033, 1133, 1154], 'microduplications.': [1034], 'also': [1036], 'sequenced': [1037], '26': [1038], 'small': [1039, 1067, 1087, 1107, 1127, 2985], 'microduplication': [1040], 'clustering': [1044], 'hotspots': [1046, 2630], 'nonallelic': [1048], 'homologous': [1049, 2216, 2224], 'recombination': [1050, 1241, 1267, 1289, 1499, 2027, 2217, 2627, 2656, 2772], '(NAHR).': [1051], 'All': [1052], 'large': [1054, 1532, 2270], 'likely': [1056], 'arose': [1057, 1069], 'NAHR': [1059, 1071], 'between': [1060, 1072, 1242, 2775], 'BP4': [1061], 'BP5': [1063], 'LCRs,': [1064], '54': [1066], 'two': [1073, 1078], 'CHRNA7-LCR': [1074], 'copies.': [1075], 'identified': [1077, 2116], 'classes': [1079, 1085], 'five': [1084], 'differing': [1089], 'in': [1090, 1234, 1399, 1405, 1434, 1468, 1528, 1594, 1644, 1979, 1992, 1999, 2021, 2085, 2218, 2237, 2262, 2662, 2797, 2828, 3027, 3290, 3459, 3522, 3539], 'duplication': [1091, 1696, 3030, 3433], 'size,': [1092], 'show': [1094], 'they': [1096, 1181], 'duplicate': [1097], 'entire': [1099], 'CHRNA7.': [1100], 'propose': [1102], 'size': [1104], 'differences': [1105], 'among': [1106, 2536], 'result': [1109], 'from': [1110, 2117, 3439], 'preexisting': [1111], 'heterogeneity': [1112], 'BP4–BP5': [1116], 'inversion.': [1117], 'Clinical': [1118, 1526, 2172], 'data': [1119], 'family': [1121], 'histories': [1122], '11': [1124], 'patients': [1125], 'suggest': [1131], 'might': [1135], 'be': [1136, 2115, 3537, 3579], 'associated': [1137, 1158, 2460, 2654, 2942, 2991, 3042, 3256, 3494], 'developmental': [1139, 1840], 'delay/mental': [1140], 'retardation,': [1141, 1355], 'muscular': [1142], 'hypotonia,': [1143], 'variety': [1146, 3489], 'neuropsychiatric': [1148, 2544], 'disorders.': [1149, 1201, 1358, 2545, 3060], 'However,': [1150], 'conclude': [1152], 'their': [1157, 1188], 'potential': [1159], 'increased': [1161], 'dosage': [1162], 'CHRNA7-encoded': [1165], 'α7': [1166], 'subunit': [1167], 'nicotinic': [1169, 1702, 2599, 3034], 'acetylcholine': [1170, 1703, 2600, 3035], 'receptors': [1171], 'are': [1172, 1396, 2226, 2459, 3493], 'uncertain': [1174], 'significance': [1176], 'present.': [1178], 'Nevertheless,': [1179], 'if': [1180], 'prove': [1182], 'pathological': [1186], 'effects,': [1187], 'high': [1189], 'frequency': [1190, 3517], 'could': [1191], 'make': [1192], 'them': [1193], 'risk': [1196, 1942, 1962], 'factor': [1197], 'many': [1199], 'neurobehavioral': [1200], 'Hum': [1202, 1253, 1410, 1441, 1479, 1508, 1604, 1652, 2005, 2132, 2301, 2747], 'Mutat': [1203], '31:1–11,': [1204], '2010.': [1205, 1829, 3455], '©': [1206], 'Wiley-Liss,': [1208], 'Inc.': [1209], 'References': [1210], 'Amos-Landgraf': [1211], 'JM,': [1212, 1734], 'Ji': [1213], 'Y,': [1214, 1798, 1888, 2471, 2893], 'Gottlieb': [1215], 'W,': [1216, 1489, 1770], 'Depinet': [1217], 'T,': [1218, 1567, 1579, 1670, 1726, 2152, 2335, 2375, 3116, 3120, 3148, 3178, 3180, 3197, 3236, 3276, 3421, 3468], 'Wandstrat': [1219], 'AE,': [1220], 'Cassidy': [1221], 'SB,': [1222], 'Driscoll': [1223], 'DJ,': [1224, 2487], 'Rogan': [1225], 'PK,': [1226], 'Schwartz': [1227, 2932], 'S,': [1228, 1297, 1317, 1327, 1553, 1561, 1672, 1712, 1868, 1933, 2039, 2317, 2363, 2407, 2495, 2613, 2640, 2714, 2911, 2968, 3071, 3104, 3110, 3146, 3193, 3207, 3264, 3268, 3364, 3379, 3383, 3387], 'Nicholls': [1229, 2811], 'RD.': [1230], '1999.': [1231, 1425], 'Chromosome': [1232], 'breakage': [1233], 'Prader–Willi': [1236, 1406], 'Angelman': [1238, 2003, 2090], 'syndromes': [1239], 'involves': [1240], 'large,': [1243], 'transcribed': [1244], 'repeats': [1245], 'proximal': [1247, 1474], 'distal': [1249], 'breakpoints.': [1250], 'Am': [1251, 1408, 1477, 1506, 1543, 2094, 2130, 2800, 3092, 3300, 3499], 'J': [1252, 1359, 1409, 1478, 1507, 1544, 2095, 2131, 2243, 2300, 2546, 2607, 2746, 2801, 2836, 2861, 3093, 3301, 3445, 3500], 'Genet': [1254, 1272, 1361, 1411, 1443, 1480, 1509, 1546, 1606, 1653, 1843, 1948, 2006, 2097, 2133, 2207, 2302, 2464, 2548, 2665, 2700, 2748, 2780, 2803, 2838, 2863, 2949, 2999, 3062, 3095, 3303, 3447, 3463, 3502], '65:': [1255], '370–': [1256], '386.': [1257], 'Arnheim': [1258], 'N,': [1259, 1329, 2035, 2395, 2432, 2553, 2555, 2761, 3170, 3342, 3354, 3381], 'Calabrese': [1260], 'P,': [1261, 1333, 1382, 1720, 1900, 1902, 1921, 2158, 2339, 2347, 2387, 2505, 2646, 2917, 3051, 3124, 3362], 'Tiemann-Boege': [1262], 'I.': [1263], '2007.': [1264, 2060, 2171, 2234, 2252, 2594], 'Mammalian': [1265], 'meiotic': [1266, 1288, 1498], 'hot': [1268, 1290, 2657], 'spots.': [1269, 1291], 'Annu': [1270], 'Rev': [1271], '41:': [1273, 1949, 2465, 3000], '369–': [1274], '399.': [1275], 'Bagshaw': [1276], 'AT,': [1277, 2706], 'Pitt': [1278], 'JP,': [1279, 1780, 2577, 2591, 3377], 'Gemmell': [1280], 'NJ.': [1281], '2006.': [1282, 1525, 2109], 'Association': [1283], 'poly-purine/poly-pyrimidine': [1285], 'sequences': [1286, 2225], 'BMC': [1292], 'Genomics': [1293, 1707], '7:': [1294], '179.': [1295], 'Ben-Shachar': [1296], 'Lanpher': [1298, 1624, 2965], 'B,': [1299, 1321, 1422, 1796, 1880, 2353, 2567, 2759, 2966, 3075, 3272, 3313, 3338, 3389], 'German': [1300, 2977], 'JR,': [1301, 1339, 1635, 1782, 2106, 2166, 2978, 3222, 3405], 'Qasaymeh': [1302], 'M,': [1303, 1331, 1485, 1569, 1660, 1814, 1854, 1856, 1898, 1915, 1917, 2047, 2104, 2323, 2383, 2409, 2421, 2517, 2563, 2583, 2765, 2817, 2885, 2913, 2919, 2954, 3012, 3073, 3079, 3150, 3185, 3189, 3195, 3234, 3328, 3371, 3373, 3472], 'L,': [1305, 1378, 1384, 1386, 1724, 1894, 1972, 2391, 2423, 2569, 2615, 2845, 2915, 3244, 3401, 3482], 'Nagamani': [1306], 'SC,': [1307], 'Franco': [1308], 'LM,': [1309, 1551, 2365], 'Malphrus': [1310], 'A,': [1311, 1335, 1376, 1380, 1456, 1571, 1631, 1684, 1722, 1754, 1800, 1858, 1925, 1970, 2142, 2287, 2349, 2355, 2501, 2507, 2559, 2561, 2589, 2644, 2680, 2724, 2853, 2889, 2962, 3077, 3108, 3130, 3138, 3140, 3142, 3144, 3158, 3176, 3226, 3232, 3393, 3399, 3484], 'Bottenfield': [1312], 'GW,': [1313], 'Spence': [1314], 'JE,': [1315, 3118], 'Amato': [1316], 'Rousseau': [1318], 'JA,': [1319, 1418, 1714, 2371, 3368, 3452], 'Moghaddam': [1320], 'Skinner': [1322, 1324, 2875], 'C,': [1323, 1374, 1458, 1460, 1563, 1664, 1686, 1730, 1778, 1816, 1863, 1865, 1876, 1923, 2043, 2379, 2479, 2497, 2617, 2642, 2874, 2876, 2895, 2897, 2903, 2927, 2931, 2972, 3126, 3166, 3199, 3218, 3345, 3349, 3360, 3407], 'SA,': [1325, 1764, 2154], 'Bernes': [1326], 'Armstrong': [1328], 'SW,': [1337, 1637, 2168, 2684, 2964], 'Lupski': [1338, 1634, 2105, 2165, 2187, 2211, 2232, 3052], 'AL,': [1341, 2164, 2682, 2980], 'Sahoo': [1342, 2151], 'T.': [1343, 1937], '2009.': [1344, 1588, 1640, 1938, 2290, 2455, 2532, 2738, 2983, 3021, 3425], 'Microdeletion': [1345], '15q13.3:': [1346], 'locus': [1348], 'incomplete': [1350], 'penetrance': [1351], 'autism,': [1353], 'mental': [1354, 2944], 'psychiatric': [1357], 'Med': [1360, 1545, 2096, 2244, 2547, 2701, 2802, 2837, 2862, 3094, 3302, 3446, 3501], '46:': [1362, 2098, 2549, 3448], '382–': [1363], '388.': [1364], 'Carrozzo': [1365], 'R,': [1366, 1454, 1518, 1662, 1688, 1766, 2041, 2491, 2499, 2523, 2525, 2565, 2887, 2905, 2907, 3014, 3069, 3112, 3187, 3356, 3474, 3476], 'Rossi': [1367], 'E,': [1368, 1520, 1810, 2049, 2411, 2440, 2718, 3114, 3182, 3191], 'SL,': [1370, 1416, 2369, 3016, 3478], 'Kittikamron': [1371], 'K,': [1372, 1680, 1682, 1746, 1896, 2351, 2377, 2503, 2708, 2757, 2872, 3334, 3336, 3385], 'Livieri': [1373], 'Corrias': [1375], 'Pucci': [1377], 'Fois': [1379], 'Simi': [1381], 'Bosio': [1383], 'Beccaria': [1385], 'Zuffardi': [1387, 2786, 2928], 'O,': [1388, 2325, 2493, 2787, 2929], 'Ledbetter': [1389, 1423, 3479], 'DH.': [1390, 1424], '1997.': [1391, 1463], 'Inter-': [1392], 'intrachromosomal': [1394], 'rearrangements': [1395, 2201, 3057], 'both': [1397], 'involved': [1398, 2827], 'origin': [1401], '15q11–q13': [1403], 'deletions': [1404, 1958, 2831], 'syndrome.': [1407, 2799, 3498], '61:': [1412], '228–': [1413], '231.': [1414], 'Fantes': [1417], 'Mewborn': [1419], 'SK,': [1420], 'Huang': [1421, 3363], 'Large': [1426, 3253], 'genomic': [1427, 1642, 2697, 3059], 'duplicons': [1428], 'map': [1429, 2625], 'sites': [1431], 'instability': [1433, 2661], 'Prader–Willi/Angelman': [1436], 'syndrome': [1437, 2941, 3293], 'chromosome': [1438, 1991, 1997, 3039, 3287], 'region': [1439, 3294], '(15q11–q13).': [1440], 'Mol': [1442, 1605, 2029], '8:': [1444, 2284], '1025–': [1445], '1037.': [1446], 'CookJr': [1447], 'EH,': [1448, 1804, 2337], 'Lindgren': [1449], 'V,': [1450, 1878, 2309, 2327, 2361, 2413, 2489, 2909], 'Leventhal': [1451], 'BL,': [1452, 1738], 'Courchesne': [1453, 1461], 'Lincoln': [1455], 'Shulman': [1457], 'Lord': [1459], 'Autism': [1464, 2736], 'atypical': [1466], 'autism': [1467, 2541], 'maternally': [1469], 'but': [1470], 'not': [1471, 2222, 3557], 'paternally': [1472], 'derived': [1473], '15q': [1475], 'duplication.': [1476], '60:': [1481], '928–': [1482], '934.': [1483], 'Cullen': [1484], 'Perfetto': [1486], 'SP,': [1487], 'Klitz': [1488], 'Nelson': [1490], 'G,': [1491, 1621, 2051, 2311, 2619, 2716, 2899, 3168, 3375, 3411], 'Carrington': [1492], 'M.': [1493, 2079, 3509], '2002.': [1494, 3054], 'High-resolution': [1495, 2017], 'patterns': [1496, 2773], 'across': [1500, 2631], 'human': [1502, 1699, 2022, 2203, 2220, 2239, 2633], 'major': [1503], 'histocompatibility': [1504], 'complex.': [1505], '71:': [1510], '759–': [1511], '776.': [1512], 'Dennis': [1513], 'NR,': [1514], 'Veltman': [1515, 3451], 'MW,': [1516], 'Thompson': [1517], 'Craig': [1519], 'Bolton': [1521], 'PF,': [1522, 2444], 'Thomas': [1523, 1901], 'NS.': [1524], 'findings': [1527], '33': [1529], 'subjects': [1530, 1538], 'supernumerary': [1533], 'marker(15)': [1534], 'chromosomes': [1535], '3': [1537], 'triplication': [1540, 2858], '15q11–q13.': [1542, 2835], '140A:': [1547], '434–': [1548], '441.': [1549], 'Dibbens': [1550], 'Mullen': [1552], 'Helbig': [1554, 1847], 'I,': [1555, 1848, 1872, 2477, 2557, 2891, 3154, 3209, 3351], 'Mefford': [1556, 1731, 1849, 2869, 3310], 'HC,': [1557, 1732, 1850, 2870, 3311], 'Bayly': [1558], 'MA,': [1559, 1623, 1806, 3347], 'Bellows': [1560], 'Leu': [1562, 1875], 'Trucks': [1564], 'H,': [1565, 1573, 1860, 1890, 1911, 2483, 2585, 2785, 3100, 3205, 3238, 3274, 3330], 'Obermeier': [1566], 'Wittig': [1568, 1914], 'Franke': [1570, 1857, 3214], 'Caglayan': [1572], 'Yapici': [1574], 'Z;': [1575], 'EPICURE': [1576], 'Consortium,': [1577, 2430], 'Sander': [1578, 1936], 'Eichler': [1580, 1827, 1934, 2934, 3418], 'EE,': [1581, 1935, 3419], 'Scheffer': [1582], 'IE,': [1583], 'Mulley': [1584], 'JC,': [1585, 3409], 'Berkovic': [1586], 'SF.': [1587], 'Familial': [1589], 'sporadic': [1591], 'microdeletions': [1593, 1940, 2296, 3255], 'idiopathic': [1595, 1944], 'generalized': [1596, 1945], 'epilepsy:': [1597], 'precedent': [1598], 'disorders': [1600], 'complex': [1602], 'inheritance.': [1603], '18:': [1607, 3063], '3626–': [1608], '3631.': [1609], 'El-Hattab': [1610], 'AW,': [1611], 'Smolarek': [1612], 'TA,': [1613], 'Walker': [1614, 3169], 'ME,': [1615], 'Schorry': [1616], 'EK,': [1617], 'Immken': [1618, 2973], 'LL,': [1619, 2974], 'Abbott': [1622], 'BC,': [1625, 1744], 'Ou': [1626, 2159, 2669], 'Z,': [1627, 2055, 2160, 2670, 2921, 2960], 'SH,': [1629, 2672], 'Scaglia': [1632], 'F,': [1633, 1718, 1886, 1892, 1904, 2720, 2810, 2815, 2847, 2849, 2851, 2882, 3395, 3415], 'Redefined': [1641], 'architecture': [1643], '15q24': [1645], 'directed': [1646, 3580], 'patient': [1648], 'deletion/duplication': [1649], 'breakpoint': [1650], 'mapping.': [1651], '126:': [1654], '589–': [1655], '602.': [1656], 'Gault': [1657, 3007], 'J,': [1658, 1666, 1668, 1674, 1760, 1794, 1818, 1822, 2013, 2077, 2144, 2315, 2341, 2357, 2381, 2389, 2393, 2448, 2475, 2485, 2515, 2521, 2587, 2726, 3008, 3010, 3018, 3172, 3174, 3211], 'Robinson': [1659, 2807, 2854], 'Berger': [1661], 'Drebing': [1663], 'Logel': [1665, 3009], 'Hopkins': [1667], 'Moore': [1669], 'Jacobs': [1671], 'Meriwether': [1673], 'Choi': [1675], 'MJ,': [1676, 2434, 2529, 3006, 3280], 'Kim': [1677], 'EJ,': [1678], 'Watton': [1679], 'Buiting': [1681], 'Davis': [1683], 'Breese': [1685], 'Freedman': [1687, 3013], 'Leonard': [1689, 3019], '1998.': [1691, 2016, 2189, 2824], 'Genomic': [1692, 2190], 'organization': [1693], 'partial': [1695, 3029], 'alpha7': [1700, 3033], 'neuronal': [1701], 'receptor': [1704, 2601], '(CHRNA7).': [1706], '52:': [1708], '173–': [1709, 3097], '185.': [1710], 'Girirajan': [1711], 'Rosenfeld': [1713], 'Cooper': [1715, 2145, 2922], 'GM,': [1716, 2923], 'Antonacci': [1717], 'Siswara': [1719], 'Itsara': [1721], 'Vives': [1723], 'Walsh': [1725, 2334], 'McCarthy': [1727, 2306], 'SE,': [1728, 2307, 2509, 2753], 'Baker': [1729, 1864, 2873, 3359], 'Kidd': [1733], 'Browning': [1735, 1737], 'SR,': [1736], 'Dickel': [1739, 2320], 'DE,': [1740, 2321], 'Levy': [1741, 2449], 'DL,': [1742, 2450], 'Ballif': [1743], 'Platky': [1745], 'Farber': [1747], 'DM,': [1748, 1802], 'Gowans': [1749], 'GC,': [1750], 'Wetherbee': [1751], 'JJ,': [1752, 1774], 'Asamoah': [1753], 'Weaver': [1755], 'DD,': [1756], 'Mark': [1757], 'PR,': [1758], 'Dickerson': [1759], 'Garg': [1761], 'BP,': [1762, 1927], 'Ellingwood': [1763], 'Smith': [1765, 1769, 1973, 2508, 3384, 3483], 'Banks': [1767], 'VC,': [1768], 'McDonald': [1771], 'MT,': [1772], 'Hoo': [1773], 'French': [1775], 'BN,': [1776], 'Hudson': [1777], 'Johnson': [1779], 'Ozmore': [1781], 'Moeschler': [1783], 'JB,': [1784, 2401], 'Surti': [1785], 'U,': [1786, 1931, 2571, 2573, 2575, 3224], 'Escobar': [1787], 'LF,': [1788], 'El-Khechen': [1789], 'D,': [1790, 1913, 1929, 2057, 2331, 2333, 2419, 2813, 2821, 3102, 3134, 3162, 3249, 3278], 'Gorski': [1791], 'JL,': [1792], 'Kussmann': [1793], 'Salbert': [1795], 'Lacassie': [1797], 'Biser': [1799], 'McDonald-McGinn': [1801], 'Zackai': [1803, 2336], 'Deardorff': [1805], 'Shaikh': [1807, 2437], 'TH,': [1808, 2438], 'Haan': [1809, 1906], 'Friend': [1811], 'KL,': [1812, 1870], 'Fichera': [1813, 1855, 2912, 3327], 'Romano': [1815, 1922, 2926, 3406], 'Gécz': [1817], 'DeLisi': [1819], 'LE,': [1820, 2442, 3332], 'Sebat': [1821, 2453], 'King': [1823, 2451], 'MC,': [1824, 2436, 2452], 'Shaffer': [1825], 'LG,': [1826], 'EE.': [1828, 2935], 'A': [1830, 2110, 2623, 2650, 2739, 2937, 2984, 3022, 3488], 'recurrent': [1831, 2938, 2986, 3254], '16p12.1': [1832], 'microdeletion': [1833, 2741, 2940, 3431, 3460], 'supports': [1834], 'two-hit': [1836], 'model': [1837], 'severe': [1839, 3443], 'delay.': [1841], 'Nat': [1842, 1947, 2463, 2664, 2779, 2948, 2998, 3462], '42:': [1844, 3464], '203–': [1845], '209.': [1846], 'Sharp': [1851, 2867, 3316], 'AJ,': [1852, 2011, 2249, 2728, 2868, 3317], 'Guipponi': [1853], 'Muhle': [1859], 'de': [1861, 1905, 3322, 3352, 3422], 'Kovel': [1862], 'von': [1866], 'Spiczak': [1867], 'Kron': [1869], 'Steinich': [1871], 'Kleefuss-Lie': [1873], 'AA,': [1874, 2843], 'Gaus': [1877], 'Schmitz': [1879], 'Klein': [1881], 'KM,': [1882, 2045], 'Reif': [1883], 'PS,': [1884], 'Rosenow': [1885], 'Weber': [1887], 'Lerche': [1889], 'Zimprich': [1891], 'Urak': [1893], 'Fuchs': [1895], 'Feucht': [1897], 'Genton': [1899], 'Visscher': [1903], 'GJ,': [1907], 'Møller': [1908], 'RS,': [1909], 'Hjalgrim': [1910], 'Luciano': [1912], 'Nothnagel': [1916], 'Elger': [1918], 'CE,': [1919, 2676, 2933], 'Nürnberg': [1920], 'Malafosse': [1924], 'Koeleman': [1926], 'Lindhout': [1928], 'Stephani': [1930], 'Schreiber': [1932], 'increase': [1941, 1961], 'epilepsy.': [1946], '160–': [1950], '162.': [1951], 'International': [1952, 2731], 'Schizophrenia': [1953, 3083], 'Consortium.': [1954, 2737], '2008.': [1955, 2649, 2687, 2936, 3252], 'Rare': [1956], 'duplications': [1960, 2272, 2833], 'schizophrenia.': [1964, 2462, 3044, 3258], 'Nature': [1965, 3259], '455:': [1966, 3260], '237–': [1967], '241.': [1968], 'Jauch': [1969], 'Robson': [1971, 3481], '1995.': [1975, 3283, 3510], 'Investigations': [1976], 'fluorescence': [1978], 'situ': [1980], 'hybridization': [1981, 2698], '(FISH)': [1982], 'demonstrate': [1983], 'loss': [1984], 'telomeres': [1987], 'on': [1988, 3038], 'reciprocal': [1990], 'three': [1993], 'unbalanced': [1994], 'translocations': [1995, 2794], '15': [1998, 3288], 'Prader-Willi': [2001, 2798, 3497], 'syndromes.': [2004, 2281, 3461], '96:': [2007, 3096], '345–': [2008], '349.': [2009], 'Jeffreys': [2010], 'Murray': [2012, 3186], 'Neumann': [2014], 'R.': [2015, 2289], 'mapping': [2018], 'crossovers': [2020], 'sperm': [2023], 'defines': [2024], 'minisatellite-associated': [2026], 'hotspot.': [2028], 'Cell': [2030], '2:': [2031, 2185], '267–': [2032], '273.': [2033], 'Kayagaki': [2034], 'Phung': [2036], 'Q,': [2037], 'Chan': [2038], 'Chaudhari': [2040], 'Quan': [2042], "O'Rourke": [2044], 'Eby': [2046], 'Pietras': [2048], 'Cheng': [2050], 'Bazan': [2052], 'JF,': [2053, 2527], 'Zhang': [2054], 'Arnott': [2056], 'Dixit': [2058], 'VM.': [2059], 'DUBA:': [2061], 'deubiquitinase': [2063], 'regulates': [2065], 'type': [2066], 'I': [2067], 'interferon': [2068], 'production.': [2069], 'Science': [2070, 2635], '318:': [2071], '1628–': [2072], '1632.': [2073], 'Knoll': [2074], 'JHM,': [2075], 'Wagstaff': [2076], 'Lalande': [2078], '1993.': [2080], 'Cytogenetic': [2081], 'studies': [2084], 'Prader-': [2087], 'Willi': [2088], 'syndromes:': [2091, 3434], 'an': [2092], 'overview.': [2093], '2–': [2099], '6.': [2100], 'Lindsay': [2101], 'SJ,': [2102, 2712, 2925, 3403], 'Khajavi': [2103], 'Hurles': [2107], 'ME.': [2108], 'rearrangement': [2112], 'hotspot': [2113, 2126], 'can': [2114, 2197], 'population': [2118], 'genetic': [2119, 3491], 'variation': [2120, 2236], 'is': [2122, 2990, 3041, 3556], 'coincident': [2123], 'allelic': [2128], 'recombination.': [2129], '79:': [2134], '890–': [2135], '902.': [2136], 'Lu': [2137], 'X,': [2138], 'Shaw': [2139, 2673], 'CA,': [2140, 2156, 2674], 'Li': [2143, 2871, 3196], 'ML,': [2146, 3004], 'Wells': [2147], 'WR,': [2148], 'Sullivan': [2149, 2443], 'CM,': [2150, 2415], 'Yatsenko': [2153], 'Chinault': [2161, 2685], 'AC,': [2162, 3164, 3397], 'Ward': [2169], 'PA.': [2170], 'implementation': [2173], 'analysis:': [2177], 'summary': [2178], '2513': [2180], 'postnatal': [2181], 'cases.': [2182], 'PLoS': [2183], 'e327.': [2186], 'JR.': [2188, 2212, 2233, 3053], 'disorders:': [2191], 'structural': [2192], 'features': [2193, 2539], 'genome': [2196, 2660], 'lead': [2198], 'DNA': [2200], 'disease': [2204], 'traits.': [2205], 'Trends': [2206, 3061], '14:': [2208], '417–': [2209], '422.': [2210], '2004.': [2213], 'Hotspots': [2214], 'genome:': [2221], 'equal.': [2227], 'Genome': [2228, 2282, 3055], 'Biol': [2229, 2283], '5:': [2230], '242.': [2231], 'Structural': [2235], 'genome.': [2240, 2634], 'N': [2241], 'Engl': [2242], '356:': [2245], '1169–': [2246], '1171.': [2247], 'Makoff': [2248, 2286], 'Flomen': [2250, 2288], 'RH.': [2251], 'Detailed': [2253], 'analysis': [2254], '15q11–q14': [2256], 'sequence': [2257, 2266, 2652], 'corrects': [2258], 'errors': [2259], 'gaps': [2261], 'public': [2264], 'access': [2265], 'fully': [2268], 'reveal': [2269], 'segmental': [2271], 'Prader-Willi,': [2276], 'Angelman,': [2277], 'inv': [2279], 'dup(15)': [2280], 'R114.': [2285], 'Common': [2291], 'inversion': [2292], 'polymorphisms': [2293], 'rare': [2295], '15q13.3.': [2298], 'Eur': [2299, 2745], '17:': [2303, 2749], '149–': [2304], '150.': [2305], 'Makarov': [2308], 'Kirov': [2310], 'Addington': [2312], 'AM,': [2313, 2580], 'McClellan': [2314], 'Yoon': [2316], 'Perkins': [2318], 'DO,': [2319], 'Kusenda': [2322], 'Krastoshevsky': [2324], 'Krause': [2326], 'Kumar': [2328], 'RA,': [2329, 3230], 'Grozeva': [2330], 'Malhotra': [2332, 2398], 'Kaplan': [2338], 'Ganesh': [2340], 'Krantz': [2342], 'ID,': [2343], 'Spinner': [2344], 'NB,': [2345, 3220], 'Roccanova': [2346], 'Bhandari': [2348], 'Pavon': [2350], 'Lakshmi': [2352], 'Leotta': [2354], 'Kendall': [2356], 'Lee': [2358, 3005], 'YH,': [2359], 'Vacic': [2360], 'Gary': [2362], 'Iakoucheva': [2364], 'Crow': [2366], 'TJ,': [2367, 3324], 'Lieberman': [2370], 'Stroup': [2372], 'TS,': [2373], 'Lehtimäki': [2374], 'Puura': [2376], 'Haldeman-Englert': [2378], 'Pearl': [2380], 'Goodell': [2382], 'Willour': [2384], 'VL,': [2385], 'Derosse': [2386], 'Steele': [2388], 'Kassem': [2390], 'Wolff': [2392, 2522], 'Chitkara': [2394], 'McMahon': [2396], 'FJ,': [2397], 'AK,': [2399], 'Potash': [2400], 'Schulze': [2402], 'TG,': [2403], 'Nöthen': [2404, 3241], 'MM,': [2405, 2511, 3242], 'Cichon': [2406, 3103], 'Rietschel': [2408, 3233], 'Leibenluft': [2410], 'Kustanovich': [2412], 'Lajonchere': [2414], 'Sutcliffe': [2416], 'JS,': [2417, 2513], 'Skuse': [2418], 'Gill': [2420], 'Gallagher': [2422], 'Mendell': [2424], 'NR;': [2425], 'Wellcome': [2426], 'Trust': [2427], 'Case': [2428], 'Control': [2429], 'Craddock': [2431], 'Owen': [2433], "O'Donovan": [2435], 'Susser': [2439], 'Delisi': [2441], 'Deutsch': [2445], 'CK,': [2446], 'Rapoport': [2447], 'Microduplications': [2456], '16p11.2': [2458], '1223–': [2466], '1227.': [2467], 'Miller': [2468], 'DT,': [2469], 'Shen': [2470], 'Weiss': [2472], 'LA,': [2473, 3213, 3413], 'Korn': [2474], 'Anselm': [2476], 'Bridgemohan': [2478], 'Cox': [2480], 'GF,': [2481], 'Dickinson': [2482], 'Gentile': [2484], 'Harris': [2486], 'Hegde': [2488], 'Hundley': [2490], 'Khwaja': [2492], 'Kothare': [2494], 'Luedke': [2496], 'Nasir': [2498], 'Poduri': [2500], 'Prasad': [2502, 3471], 'Raffalli': [2504], 'Reinhard': [2506], 'Sobeih': [2510], 'Soul': [2512], 'Stoler': [2514], 'Takeoka': [2516], 'Tan': [2518], 'WH,': [2519], 'Thakuria': [2520], 'Yusupov': [2524], 'Gusella': [2526], 'Daly': [2528], 'Wu': [2530, 3506], 'BL.': [2531], 'Microdeletion/duplication': [2533], '15q13.2q13.3': [2535], 'individuals': [2537], 'other': [2543], '242–': [2550], '248.': [2551], 'Moser': [2552], 'Mechawar': [2554], 'Jones': [2556], 'Gochberg-Sarver': [2558], 'Orr-Urtreger': [2560], 'Plomann': [2562], 'Salas': [2564], 'Molles': [2566], 'Marubio': [2568], 'Roth': [2570], 'Maskos': [2572], 'Winzer-Serhan': [2574], 'Bourgeois': [2576], 'Le': [2578], 'Sourd': [2579], 'De': [2581, 2883], 'Biasi': [2582], 'Schröder': [2584], 'Lindstrom': [2586], 'Maelicke': [2588], 'Changeux': [2590], 'Wevers': [2592], 'Evaluating': [2595], 'suitability': [2597], 'antibodies': [2602], 'standard': [2604], 'immunodetection': [2605], 'procedures.': [2606], 'Neurochem': [2608], '102:': [2609], '479–': [2610], '492.': [2611], 'Myers': [2612, 2639], 'Bottolo': [2614], 'Freeman': [2616, 2641], 'McVean': [2618, 2647], 'Donnelly': [2620, 2645], '2005.': [2622, 2770], 'fine-scale': [2624], 'rates': [2628], '310:': [2636], '321–': [2637], '324.': [2638], 'Auton': [2643], 'G.': [2648], 'motif': [2653], 'spots': [2658], 'humans.': [2663, 2778], '40:': [2666, 2950], '1124–': [2667], '1129.': [2668], 'Carmack': [2675], 'White': [2677], 'LD,': [2678], 'AC.': [2686], 'Bacterial': [2688], 'artificial': [2689], 'chromosome-emulation': [2690], 'oligonucleotide': [2691], 'arrays': [2692], 'targeted': [2694], 'array-comparative': [2696], 'analyses.': [2699], '10:': [2702], '278–': [2703], '289.': [2704], 'Pagnamenta': [2705], 'Wing': [2707], 'Akha': [2709], 'ES,': [2710], 'Knight': [2711, 2924, 3402], 'Bölte': [2713], 'Schmötzer': [2715], 'Duketis': [2717], 'Poustka': [2719, 2723], 'Klauck': [2721], 'SM,': [2722], 'Ragoussis': [2725], 'Bailey': [2727], 'Monaco': [2729], 'AP,': [2730], 'Genetic': [2733], 'Study': [2734], 'segregating': [2742], 'autism.': [2744], '687–': [2750], '692.': [2751], 'Ptak': [2752], 'Hinds': [2754], 'DA,': [2755, 3246, 3315], 'Koehler': [2756], 'Nickel': [2758], 'Patil': [2760], 'Ballinger': [2762], 'DG,': [2763], 'Przeworski': [2764], 'Frazer': [2766], 'KA,': [2767], 'Paabo': [2768], 'Fine-scale': [2771], 'differ': [2774], 'chimpanzees': [2776], '37:': [2781, 2804], '429–': [2782], '434.': [2783], 'Rivera': [2784], 'Gargantini': [2788], '1990.': [2790], 'Nonreciprocal': [2791], 'jumping': [2793], '15q1→qter': [2796], '311–': [2805], '317.': [2806], 'WP,': [2808], 'Dutly': [2809], 'R': [2812], 'Bernasconi': [2814], 'Peñherrera': [2816], 'Michaelis': [2818], 'RC,': [2819], 'Abeliovich': [2820], 'Schinzel': [2822, 2842, 3076], 'AA.': [2823], 'The': [2825, 3554], 'formation': [2829], '35:': [2839], '130–': [2840], '136.': [2841], 'Brecevic': [2844], 'Barnasconi': [2846], 'Binkert': [2848], 'Berthet': [2850], 'Wuilloud': [2852], 'WP.': [2855], '1994.': [2856, 3487], 'Intrachromosomal': [2857], '15q11–13.': [2860], '31:': [2864], '798–': [2865], '803.': [2866], 'Stevenson': [2877], 'RE,': [2878, 3266], 'Schroer': [2879], 'RJ,': [2880], 'Novara': [2881], 'Gregori': [2884], 'Ciccone': [2886], 'Broomer': [2888], 'Casuga': [2890], 'Wang': [2892, 3202], 'Xiao': [2894], 'Barbacioru': [2896], 'Gimelli': [2898], 'Bernardina': [2900], 'BD,': [2901], 'Torniero': [2902], 'Giorda': [2904], 'Regan': [2906], 'Murday': [2908], 'Mansour': [2910], 'Castiglia': [2914], 'Failla': [2916], 'Ventura': [2918], 'Jiang': [2920], 'Chen': [2930], 'retardation': [2945], 'seizures.': [2947], '322–': [2951], '328.': [2952], 'CP,': [2956], 'Bhatt': [2957], 'SS,': [2958], 'Nagl': [2967], 'Herding': [2969], 'HS,': [2970], 'Nevinny-Stickel': [2971], 'GS,': [2976], 'deletion': [2987, 3025], 'within': [2988], 'range': [2994], 'neurodevelopmental': [2996], 'phenotypes.': [2997], '1269–': [3001], '1271.': [3002], 'Sinkus': [3003], 'Short': [3011], 'Lyon': [3017], '2-base': [3023], 'pair': [3024], 'polymorphism': [3026], '(CHRFAM7A)': [3037], '15q14': [3040], 'Brain': [3045], 'Res': [3046], '1291:': [3047], '1–': [3048], '11.': [3049], 'architecture,': [3056], '74–': [3064], '82.': [3065], 'Stassen': [3066], 'HH,': [3067], 'Bridler': [3068], 'Hagele': [3070], 'Hergersberg': [3072], 'Mehmann': [3074], 'Weisbrod': [3078], 'Scharfetter': [3080], 'C.': [3081], '2000.': [3082], 'smoking:': [3085], 'evidence': [3086], 'neurobiological': [3090], 'basis?': [3091], '177.': [3098], 'Stefansson': [3099, 3250], 'Rujescu': [3101], 'Pietiläinen': [3105], 'OP,': [3106], 'Ingason': [3107], 'Steinberg': [3109], 'Fossdal': [3111], 'Sigurdsson': [3113, 3137], 'Sigmundsson': [3115], 'Buizer-Voskamp': [3117], 'Hansen': [3119], 'Jakobsen': [3121], 'KD,': [3122], 'Muglia': [3123], 'Francks': [3125], 'Matthews': [3127], 'PM,': [3128], 'Gylfason': [3129], 'Halldorsson': [3131], 'BV,': [3132], 'Gudbjartsson': [3133], 'Thorgeirsson': [3135], 'TE,': [3136], 'Jonasdottir': [3139, 3141], 'Bjornsson': [3143], 'Mattiasdottir': [3145], 'Blondal': [3147], 'Haraldsson': [3149], 'Magnusdottir': [3151], 'BB,': [3152], 'Giegling': [3153], 'Möller': [3155], 'HJ,': [3156], 'Hartmann': [3157], 'Shianna': [3159], 'KV,': [3160], 'Ge': [3161], 'Need': [3163], 'Crombie': [3165], 'Fraser': [3167], 'Lonnqvist': [3171], 'Suvisaari': [3173], 'Tuulio-Henriksson': [3175], 'Paunio': [3177], 'Toulopoulou': [3179], 'Bramon': [3181], 'Di': [3183], 'Forti': [3184], 'Ruggeri': [3188], 'Vassos': [3190], 'Tosato': [3192], 'Walshe': [3194], 'Vasilescu': [3198], 'Mühleisen': [3200], 'TW,': [3201], 'AG,': [3203], 'Ullum': [3204], 'Djurovic': [3206], 'Melle': [3208], 'Olesen': [3210], 'Kiemeney': [3212], 'B;': [3215], 'GROUP,': [3216], 'Sabatti': [3217], 'Freimer': [3219], 'Gulcher': [3221], 'Thorsteinsdottir': [3223], 'Kong': [3225], 'Andreassen': [3227], 'OA,': [3228], 'Ophoff': [3229], 'Georgi': [3231], 'Werge': [3235], 'Petursson': [3237], 'Goldstein': [3239], 'DB,': [3240], 'Peltonen': [3243], 'Collier': [3245], 'St': [3247], 'Clair': [3248], 'K.': [3251], '232–': [3261], '236.': [3262], 'Toth-Fejel': [3263], 'Magenis': [3265], 'Leff': [3267], 'Brown': [3269], 'MG,': [3270], 'Comegys': [3271], 'Lawce': [3273], 'Berry': [3275], 'Kesner': [3277], 'Webb': [3279], 'Olson': [3281], 'Prenatal': [3284], 'diagnosis': [3285], 'abnormalities': [3289], 'Prader-Willi/Angelman': [3292], 'traditional': [3296], 'cytogenetics.': [3299], '55:': [3304], '444–': [3305], '452.': [3306], 'van': [3307, 3343, 3369], 'Bon': [3308], 'BW,': [3309], 'Menten': [3312], 'Koolen': [3314], 'Nillesen': [3318], 'WM,': [3319], 'Innis': [3320], 'JW,': [3321], 'Ravel': [3323], 'Mercer': [3325], 'CL,': [3326], 'Stewart': [3329], 'Connell': [3331], 'Ounap': [3333], 'Lachlan': [3335], 'Castle': [3337], 'Van': [3339], 'der': [3340], 'Aa': [3341], 'Ravenswaaij': [3344], 'Nobrega': [3346], 'Serra-Juhé': [3348], 'Simonic': [3350], 'Leeuw': [3353], 'Pfundt': [3355], 'Bongers': [3357], 'EM,': [3358], 'Finnemore': [3361], 'Maloney': [3365], 'VK,': [3366], 'Crolla': [3367], 'Kalmthout': [3370], 'Elia': [3372], 'Vandeweyer': [3374], 'Fryns': [3376], 'Janssens': [3378], 'Foulds': [3380], 'Reitano': [3382], 'Parkel': [3386], 'Loeys': [3388], 'Woods': [3390], 'CG,': [3391], 'Oostra': [3392], 'Speleman': [3394], 'Pereira': [3396], 'Kurg': [3398], 'Willatt': [3400], 'Vermeesch': [3404], 'Barber': [3408], 'Mortier': [3410], 'Pérez-Jurado': [3412], 'Kooy': [3414], 'Brunner': [3416, 3453], 'HG,': [3417], 'Kleefstra': [3420], 'Vries': [3423], 'BB.': [3424], 'Further': [3426], 'delineation': [3427], '15q13': [3430], 'spectrum': [3437], 'varying': [3438], 'non-pathogenic': [3440], 'outcome.': [3444], '511–': [3449], '523.': [3450], 'HG.': [3454], 'Understanding': [3456], 'variable': [3457], 'expressivity': [3458], '192–': [3465], '193.': [3466], 'Woodage': [3467], 'Deng': [3469], 'ZM,': [3470], 'Smart': [3473], 'Lindeman': [3475], 'DH,': [3480], 'Trent': [3485], 'RJ.': [3486], '54:': [3503], '219–': [3504], '226.': [3505], 'T-C,': [3507], 'Lichten': [3508], 'Factors': [3511], 'affect': [3513], 'location': [3515], 'meiosis-induced': [3519], 'double-strand': [3520], 'breaks': [3521], 'Saccharomyces': [3523], 'cerevisiae.': [3524], 'Genetics': [3525], '140:': [3526], '55–': [3527], '66.': [3528], 'Citing': [3529], 'Literature': [3530], 'Supporting': [3531, 3534, 3550], 'Information': [3532, 3535, 3551], 'Additional': [3533], 'may': [3536], 'found': [3538], 'online': [3541], 'Filename': [3546], 'Description': [3547], 'humu_21284_sm_SupplInfo.pdf1': [3548], 'MB': [3549], 'Please': [3552], 'note:': [3553], 'publisher': [3555], 'responsible': [3558], 'content': [3561], 'functionality': [3563], 'any': [3565], 'supporting': [3566], 'information': [3567], 'supplied': [3568], 'authors.': [3571], 'Any': [3572], 'queries': [3573], '(other': [3574], 'than': [3575], 'missing': [3576], 'content)': [3577], 'should': [3578], 'corresponding': [3583], 'article.': [3587], 'Volume31,': [3588], 'Issue7July': [3589], '2010Pages': [3590], 'ReferencesRelatedInformation': [3592]}, 'cited_by_api_url': 'https://api.openalex.org/works?filter=cites:W2024129111', 'counts_by_year': [{'year': 2024, 'cited_by_count': 3}, {'year': 2023, 'cited_by_count': 3}, {'year': 2022, 'cited_by_count': 7}, {'year': 2021, 'cited_by_count': 4}, {'year': 2020, 'cited_by_count': 9}, {'year': 2019, 'cited_by_count': 8}, {'year': 2018, 'cited_by_count': 3}, {'year': 2017, 'cited_by_count': 5}, {'year': 2016, 'cited_by_count': 14}, {'year': 2015, 'cited_by_count': 10}, {'year': 2014, 'cited_by_count': 9}, {'year': 2013, 'cited_by_count': 14}, {'year': 2012, 'cited_by_count': 14}], 'updated_date': '2024-12-10T03:48:06.171157', 'created_date': '2016-06-24'}
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