NR2F1 regulates regional progenitor dynamics in the mouse neocortex and cortical gyrification in BBSOAS patients

Name: Work Video:
Duration: 3 min 30 s
Michele Bertacchi; Anna Lisa Romano; Agnès Loubat; Frédéric Tran Mau‐Them; Marjolaine Willems; Laurence Faivre; Philippe Khau Van Kien; Laurence Perrin; Françoise Devillard; Arthur Sorlin; Paul Kuentz; Christophe Philippe; Aurore Garde; Francesco Neri; Rossella Di Giaimo; Salvatore Oliviero; Silvia Cappello; Ludovico D’Incerti; Carolina Frassoni; Michéle Studer
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3744, 3757, 3764, 3781, 3784, 3789, 3845, 3849, 3875, 3887, 3899, 3916, 3948, 3992, 4070, 4084], 'mouse': [13, 1690, 1761, 2421, 2773, 2860, 2885, 2946], 'neocortex': [14, 2297, 3820], 'and': [15, 35, 617, 674, 1256, 1344, 1357, 1569, 1587, 1609, 1673, 1682, 1710, 1730, 1732, 1750, 1762, 1766, 1814, 1839, 1845, 1854, 1862, 1879, 1902, 1948, 1968, 1979, 2015, 2130, 2154, 2178, 2209, 2249, 2306, 2329, 2337, 2355, 2411, 2422, 2442, 2455, 2478, 2545, 2583, 2625, 2666, 2725, 2728, 2750, 2798, 2813, 2829, 2862, 2943, 2955, 2966, 2979, 2998, 3014, 3031, 3108, 3117, 3136, 3189, 3205, 3235, 3249, 3330, 3371, 3387, 3401, 3457, 3474, 3539, 3597, 3660, 3674, 3705, 3726, 3741, 3751, 3807, 3840, 3879, 3919, 3924, 3943, 3987, 4012, 4098], 'cortical': [16, 1607, 1712, 1779, 1931, 2044, 2089, 2181, 2748, 2935, 2953, 2980, 2996, 3009, 3170], 'gyrification': [17, 2254, 2978, 3000, 3227, 3723], 'BBSOAS': [19, 1642, 1689, 1827, 2564, 2630, 2638, 2941, 2988, 3002, 3152, 3684, 3696, 3774], 'patients': [20, 1639, 1663, 1787, 1828, 2466, 2511, 2565, 2663, 2694, 2719, 2739, 2752, 2942, 3003, 3013, 3028, 3079, 3096, 3153, 3253, 3685, 3697], 'Michele': [21, 23, 660, 662, 1301], 'Bertacchi': [22, 24, 661, 663, 2290, 2325, 2550, 2570, 3030], 'orcid.org/0000-0002-4402-4974': [25, 664], 'Université': [26, 60, 79, 104, 163, 301, 380, 410, 645, 665, 699, 718, 743, 802, 940, 1019, 1049, 1284, 1373], 'Côte': [27, 61, 80, 646, 666, 700, 719, 1285, 1349], "d'Azur,": [28, 62, 81, 647, 667, 701, 720, 1286, 1350], 'CNRS,': [29, 63, 82, 648, 668, 702, 721, 1287, 1351], 'Inserm,': [30, 64, 83, 649, 669, 703, 722, 1288, 1352], 'iBV,': [31, 65, 84, 650, 670, 704, 723, 1289, 1353], 'Paris,': [32, 66, 85, 261, 651, 671, 705, 724, 900, 1290, 1354, 1458], 'France': [33, 67, 86, 108, 123, 147, 167, 182, 204, 241, 262, 285, 305, 320, 342, 363, 384, 394, 414, 429, 455, 477, 652, 672, 706, 725, 747, 762, 786, 806, 821, 843, 880, 901, 924, 944, 959, 981, 1002, 1023, 1033, 1053, 1068, 1094, 1116, 1291, 1355, 1377, 1392, 1405, 1427, 1449, 1459, 1471, 1492, 1502], 'Clinical': [34, 616, 673, 1255, 3266], 'Experimental': [36, 618, 675, 1257, 1358], 'Epileptology': [37, 619, 676, 1258, 1359], 'Unit,': [38, 490, 554, 596, 620, 677, 1129, 1193, 1235, 1259, 1360, 1504, 1543], 'Fondazione': [39, 597, 621, 678, 1236, 1260, 1361, 1544], 'IRCCS': [40, 598, 622, 679, 1237, 1261, 1362, 1545], 'Istituto': [41, 599, 623, 680, 1238, 1262, 1363, 1546], 'Neurologico': [42, 600, 624, 681, 1239, 1263, 1364, 1547], 'Carlo': [43, 601, 625, 682, 1240, 1264, 1365, 1548], 'Besta,': [44, 602, 626, 683, 1241, 1265, 1366, 1549], 'Milano,': [45, 603, 627, 684, 1242, 1266, 1367, 1550], 'Italy': [46, 500, 534, 564, 604, 628, 685, 1139, 1173, 1203, 1243, 1267, 1368, 1514, 1534, 1551], 'Search': [47, 68, 87, 124, 148, 205, 242, 263, 286, 364, 395, 430, 478, 511, 542, 565, 584, 605, 629, 653, 686, 707, 726, 763, 787, 844, 881, 902, 925, 1003, 1034, 1069, 1117, 1150, 1181, 1204, 1223, 1244, 1268, 1292], 'for': [48, 69, 88, 125, 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'this': [52, 73, 92, 129, 153, 210, 247, 268, 291, 369, 400, 435, 483, 516, 547, 570, 589, 610, 634, 658, 691, 712, 731, 768, 792, 849, 886, 907, 930, 1008, 1039, 1074, 1122, 1155, 1186, 1209, 1228, 1249, 1273, 1297, 1631, 2681, 2766, 3086], 'author': [53, 74, 93, 130, 154, 211, 248, 269, 292, 370, 401, 436, 484, 517, 548, 571, 590, 611, 635, 659, 692, 713, 732, 769, 793, 850, 887, 908, 931, 1009, 1040, 1075, 1123, 1156, 1187, 1210, 1229, 1250, 1274, 1298, 1588], 'Anna': [54, 57, 693, 696, 1303], 'Lisa': [55, 58, 694, 697, 1304], 'Romano': [56, 59, 695, 698], 'Agnès': [75, 77, 714, 716, 1306], 'Loubat': [76, 78, 715, 717], 'Frederic': [94, 97, 733, 736, 1308], 'Tran': [95, 98, 734, 737, 1309], 'Mau-Them': [96, 99, 735, 738], 'UMR1231': [100, 159, 297, 376, 406, 739, 798, 936, 1015, 1045], 'GAD,': [101, 160, 298, 377, 407, 740, 799, 937, 1016, 1046, 1370], 'Inserm': [102, 161, 299, 378, 408, 741, 800, 938, 1017, 1047, 1371], '-': [103, 162, 300, 379, 409, 742, 801, 939, 1018, 1048, 1372], 'Bourgogne-Franche': [105, 164, 302, 381, 411, 744, 803, 941, 1020, 1050, 1374], 'Comté,': [106, 165, 303, 382, 412, 745, 804, 942, 1021, 1051, 1375], 'Dijon,': [107, 122, 166, 181, 203, 304, 319, 341, 362, 383, 413, 428, 454, 476, 746, 761, 805, 820, 842, 943, 958, 980, 1001, 1022, 1052, 1067, 1093, 1115, 1376, 1391, 1426, 1491], 'Unité': [109, 168, 253, 306, 415, 441, 748, 807, 892, 945, 1054, 1080], 'Fonctionnelle': [110, 169, 254, 307, 416, 442, 749, 808, 893, 946, 1055, 1081, 1379, 1451], 'Innovation': [111, 170, 308, 417, 443, 750, 809, 947, 1056, 1082, 1380], 'en': [112, 171, 309, 418, 444, 751, 810, 948, 1057, 1083, 1381], 'Diagnostic': [113, 172, 310, 419, 445, 752, 811, 949, 1058, 1084, 1382], 'Génomique': [114, 173, 311, 420, 446, 753, 812, 950, 1059, 1085, 1383], 'des': [115, 174, 312, 421, 447, 754, 813, 951, 1060, 1086, 1384], 'Maladies': [116, 175, 313, 422, 448, 755, 814, 952, 1061, 1087, 1385], 'Rares,': [117, 176, 314, 423, 449, 756, 815, 953, 1062, 1088, 1386], 'FHU-TRANSLAD,': [118, 177, 199, 315, 337, 358, 424, 450, 472, 757, 816, 838, 954, 976, 997, 1063, 1089, 1111, 1387, 1422, 1487], 'CHU': [119, 143, 178, 200, 237, 281, 316, 338, 359, 425, 451, 473, 758, 782, 817, 839, 876, 920, 955, 977, 998, 1064, 1090, 1112, 1388, 1401, 1423, 1445, 1467, 1488], 'Dijon': [120, 179, 201, 317, 339, 360, 426, 452, 474, 759, 818, 840, 956, 978, 999, 1065, 1091, 1113, 1389, 1424, 1489], 'Bourgogne,': [121, 180, 202, 318, 340, 361, 427, 453, 475, 760, 819, 841, 957, 979, 1000, 1066, 1092, 1114, 1390, 1425, 1490], 'Marjolaine': [131, 133, 770, 772, 1311], 'Willems': [132, 134, 771, 773], 'Hôpital': [135, 220, 258, 279, 774, 859, 897, 918, 1455, 1465], 'Arnaud': [136, 775, 1394], 'de': [137, 140, 144, 184, 197, 223, 229, 238, 255, 275, 282, 322, 335, 344, 351, 356, 391, 457, 470, 776, 779, 783, 823, 836, 862, 868, 877, 894, 914, 921, 961, 974, 983, 990, 995, 1030, 1096, 1109, 1395, 1398, 1402, 1407, 1420, 1431, 1437, 1446, 1452, 1461, 1468, 1473, 1480, 1485, 1499, 2696, 3098, 3291, 3349, 3417, 3488, 3553, 3611], 'Villeneuve,': [138, 777, 1396], 'Service': [139, 778, 1397], 'Génétique': [141, 224, 256, 276, 385, 780, 863, 895, 915, 1024, 1399, 1432, 1453, 1462], 'Médicale,': [142, 781, 1400], 'Montpellier,': [145, 146, 784, 785, 1403, 1404], 'Laurence': [155, 157, 249, 251, 794, 796, 888, 890, 1313, 1319], 'Faivre': [156, 158, 795, 797], 'Centre': [183, 196, 228, 321, 334, 343, 355, 388, 456, 469, 822, 835, 867, 960, 973, 982, 994, 1027, 1095, 1108, 1419, 1436, 1484, 1496], 'Référence': [185, 323, 458, 824, 962, 1097, 1408], 'maladies': [186, 324, 346, 459, 825, 963, 985, 1098, 1409, 1475], 'rares': [187, 325, 347, 353, 460, 826, 964, 986, 992, 1099, 1410, 1476, 1482], '«': [188, 326, 348, 461, 827, 965, 987, 1100, 1411, 1477], 'Anomalies': [189, 231, 327, 462, 828, 870, 966, 1101, 1412, 1439], 'du': [190, 232, 328, 463, 829, 871, 967, 1102, 1413, 1440], 'développement': [191, 329, 464, 830, 968, 1103, 1414], 'et': [192, 226, 234, 277, 330, 465, 831, 865, 873, 916, 969, 1104, 1415, 1434, 1442, 1463, 2009, 2096, 2147, 2184, 2192, 2216, 2236, 2244, 2287, 2291, 2318, 2322, 2326, 2334, 2344, 2348, 2352, 2359, 2363, 2367, 2383, 2427, 2431, 2446, 2481, 2485, 2489, 2493, 2497, 2502, 2506, 2551, 2567, 2571, 2642, 2646, 2650, 2654, 2658, 2789, 3053, 3057, 3155, 3159], 'syndromes': [193, 331, 466, 832, 970, 1105, 1416], 'malformatifs': [194, 332, 467, 833, 971, 1106, 1417], '»,': [195, 333, 354, 468, 834, 972, 993, 1107, 1418, 1483], 'Génétique,': [198, 336, 357, 471, 837, 975, 996, 1110, 1421, 1486], 'Philippe': [212, 216, 403, 405, 851, 855, 1042, 1044, 1315], 'Khau': [213, 217, 852, 856, 1316], 'van': [214, 218, 853, 857, 1317], 'Kien': [215, 219, 854, 858], 'Carémeau,': [221, 860, 1429], 'UF': [222, 861, 1430], 'Médicale': [225, 864, 1433], 'Cytogénétique,': [227, 866, 1435], 'Compétences': [230, 869, 1438], 'Développement': [233, 872, 1441], 'Syndromes': [235, 874, 1443], 'Malformatifs,': [236, 875, 1444], 'Nîmes,': [239, 240, 878, 879, 1447, 1448], 'Perrin': [250, 252, 889, 891], 'Clinique,': [257, 896, 1454], 'Robert': [259, 898, 1456], 'Debré,': [260, 899, 1457], 'Françoise': [270, 272, 909, 911, 1321], 'Devillard': [271, 273, 910, 912], 'Département': [274, 913], 'Procréation,': [278, 917, 1464], 'Couple-Enfant,': [280, 919, 1466], 'Grenoble,': [283, 284, 922, 923, 1469, 1470], 'Arthur': [293, 295, 932, 934, 1323], 'Sorlin': [294, 296, 933, 935], 'référence': [345, 984, 1474], 'Déficiences': [349, 988, 1478], 'intellectuelles': [350, 989, 1479], 'causes': [352, 991, 1481], 'Paul': [371, 373, 1010, 1012, 1325], 'Kuentz': [372, 374, 1011, 1013], 'orcid.org/0000-0003-2814-6303': [375, 1014], 'Biologique,': [386, 1025, 1494], 'PCBio,': [387, 1026, 1495], 'Hospitalier': [389, 1028, 1497], 'Universitaire': [390, 1029, 1498], 'Besançon,': [392, 393, 1031, 1032, 1500, 1501], 'Christophe': [402, 404, 1041, 1043, 1327], 'Aurore': [437, 439, 1076, 1078, 1329], 'Garde': [438, 440, 1077, 1079], 'Francesco': [485, 487, 1124, 1126, 1331], 'Neri': [486, 488, 1125, 1127], 'Epigenetics': [489, 553, 1128, 1192], 'Italian': [491, 555, 1130, 1194, 1505], 'Institute': [492, 502, 507, 537, 556, 579, 1131, 1141, 1146, 1176, 1195, 1218, 1506, 1516, 1521, 1537], 'Genomic': [494, 558, 1133, 1197, 1508], 'Medicine,': [495, 559, 1134, 1198, 1509], 'University': [496, 528, 560, 1135, 1167, 1199, 1510, 1528], 'of': [497, 526, 529, 538, 561, 580, 1136, 1165, 1168, 1177, 1200, 1219, 1511, 1526, 1529, 1538, 1566, 1576, 1638, 1657, 1700, 1706, 1737, 1760, 1771, 1798, 1809, 1895, 1972, 2043, 2051, 2076, 2101, 2117, 2172, 2180, 2281, 2539, 2560, 2587, 2595, 2609, 2620, 2669, 2715, 2737, 2765, 2808, 2815, 2844, 2893, 2899, 2912, 2969, 3008, 3023, 3027, 3064, 3077, 3093, 3132, 3151, 3165, 3179, 3186, 3192, 3219, 3252, 3322, 3327, 3377, 3381, 3394, 3453, 3470, 3511, 3516, 3520, 3526, 3533, 3536, 3575, 3579, 3584, 3591, 3594, 3668, 3671, 3724, 3734, 3756, 3771, 3783, 3814, 3818, 3848, 3867, 3902, 3922, 3947, 3991, 4072], 'Torino,': [498, 499, 562, 563, 1137, 1138, 1201, 1202, 1512, 1513], 'Leibniz': [501, 1140], 'on': [503, 1142, 1517, 2073, 2579, 2795, 2930, 3046, 3207, 3763, 3912], 'Aging,': [504, 1143, 1518], 'Fritz': [505, 1144, 1519], 'Lipmann': [506, 1145, 1520], '(FLI),': [508, 1147, 1522], 'Jena,': [509, 1148, 1523], 'Germany': [510, 541, 583, 1149, 1180, 1222, 1524, 1541], 'Rossella': [518, 521, 1157, 1160, 1333], 'Di': [519, 522, 1158, 1161, 1334], 'Giaimo': [520, 523, 1159, 1162], 'orcid.org/0000-0003-3604-3697': [524, 1163], 'Department': [525, 1164], 'Biology,': [527, 1166, 1527], 'Naples': [530, 1169, 1530], 'Federico': [531, 1170, 1531], 'II,': [532, 1171, 1532], 'Napoli,': [533, 1172, 1533], 'Max': [535, 577, 1174, 1216], 'Planck': [536, 578, 1175, 1217, 1536], 'Psychiatry,': [539, 581, 1178, 1220, 1539], 'München,': [540, 582, 1179, 1221, 1540], 'Salvatore': [549, 551, 1188, 1190, 1336], 'Oliviero': [550, 552, 1189, 1191], 'Silvia': [572, 574, 1211, 1213, 1338], 'Cappello': [573, 575, 1212, 1214], 'orcid.org/0000-0003-4539-9038': [576, 1215], 'Ludovico': [591, 593, 1230, 1232, 1340], "D'Incerti": [592, 594, 1231, 1233], 'Neuroradiology': [595, 1234], 'Carolina': [612, 614, 1251, 1253, 1342], 'Frassoni': [613, 615, 1252, 1254], 'Michèle': [636, 640, 1275, 1279, 1345], 'Studer': [637, 641, 1276, 1280, 1346], 'Corresponding': [638, 1277], 'Author': [639, 1278, 1299], '[email': [642, 1281, 1558], 'protected]': [643, 1282, 1559], 'orcid.org/0000-0001-7105-2957': [644, 1283], 'Information': [1300], 'Bertacchi1,2,': [1302], 'Romano1,': [1305], 'Loubat1,': [1307], 'Mau-Them3,4,': [1310], 'Willems5,': [1312], 'Faivre3,4,6,': [1314], 'Kien7,': [1318], 'Perrin8,': [1320], 'Devillard9,': [1322], 'Sorlin3,4,6,10,': [1324], 'Kuentz3,11,': [1326], 'Philippe3,4,': [1328], 'Garde4,6,': [1330], 'Neri12,13,': [1332], 'Giaimo14,15,': [1335], 'Oliviero12,': [1337], 'Cappello15,': [1339], "D'Incerti16,": [1341], 'Frassoni2': [1343], '*,1': [1347], '1Université': [1348], '2Clinical': [1356], '3UMR1231': [1369], '4Unité': [1378], '5Hôpital': [1393], '6Centre': [1406], '7Hôpital': [1428], '8Unité': [1450], '9Département': [1460], '10Centre': [1472], '11Génétique': [1493], '12Epigenetics': [1503], '13Leibniz': [1515], '14Department': [1525], '15Max': [1535], '16Neuroradiology': [1542], '*Corresponding': [1552], 'author.': [1553], 'Tel:': [1554], '+33': [1555], '489150720;': [1556], 'E-mail:': [1557], 'The': [1560, 1603, 2260], 'EMBO': [1561], 'Journal': [1562], '(2020)39:e104163https://doi.org/10.15252/embj.2019104163': [1563], 'PDFDownload': [1564], 'PDF': [1565], 'article': [1567], 'text': [1568], 'main': [1570], 'figures.': [1571], 'Peer': [1572], 'ReviewDownload': [1573], 'a': [1574, 1647, 1686, 1767, 1791, 1821, 1867, 1896, 1918, 2048, 2138, 2169, 2299, 2414, 2536, 2741, 2781, 2868, 2909, 3021, 3130, 3772, 3815, 3903, 4030], 'summary': [1575], 'editorial': [1578, 1582], 'decision': [1579, 1583], 'including': [1581], 'letters,': [1584], 'reviewer': [1585], 'comments': [1586], 'responses': [1589], 'to': [1590, 1593, 1628, 1669, 1783, 1914, 1929, 1938, 2038, 2114, 2125, 2137, 2144, 2161, 2202, 2227, 2232, 2278, 2301, 2399, 2535, 2677, 2779, 2919, 3069, 4022, 4046], 'feedback.': [1591], 'ToolsAdd': [1592], 'favoritesDownload': [1594], 'CitationsTrack': [1595], 'CitationsPermissions': [1596], 'ShareFacebookTwitterLinked': [1597], 'InMendeleyWechatReddit': [1598], 'Figures': [1599], '&': [1600, 1907, 1951, 1955, 1990, 2066, 2092, 2188, 2240], 'Info': [1601], 'Abstract': [1602], 'relationships': [1604], 'between': [1605, 1899, 2806], 'impaired': [1606, 2210], 'development': [1608, 1713, 2007, 2033, 2045], 'consequent': [1610], 'malformations': [1611, 1678, 2173, 2981, 2997, 3010, 3067, 3171, 3281, 3682, 3691], 'neurodevelopmental': [1613, 1651, 2052, 2063, 2526], 'disorders,': [1614, 2724, 3114, 3304, 3362, 3430, 3501, 3560], 'as': [1615, 1617, 1717, 1756, 1835, 1866, 2166, 2270, 2661, 2875, 2877, 2933, 2982, 3176, 3851, 3910, 3926, 3956, 4025, 4091], 'well': [1616, 1996, 2028, 2258, 2876], 'genes': [1619, 1709], 'implicated': [1620], 'these': [1622, 2718, 3078], 'processes,': [1623], 'are': [1624, 1960, 2018, 2059, 2197, 2230, 2255, 2515, 2634, 2664, 2937, 3793, 4006, 4089], 'not': [1625, 1961, 2020, 2027, 2257], 'fully': [1626, 2021], 'elucidated': [1627, 2234], 'date.': [1629], 'In': [1630, 1719, 1740, 1803, 2023, 2449, 2680, 3085, 3264, 4067, 4086], 'study,': [1632, 2682, 3087], 'we': [1633, 1692, 2683, 2770, 2824, 2852, 2888, 2974, 3019, 3088], 'report': [1634, 3089], 'six': [1635, 2692, 2738, 3094, 3694, 3735], 'novel': [1636, 1768, 2983, 3025, 3095, 3695, 3769], 'cases': [1637, 3026], 'affected': [1640, 2151], '(Boonstra-Bosch-Schaff': [1643], 'optic': [1644, 2468, 2520, 2584, 2732, 3048, 3137, 3142, 3319, 3328, 3331, 3450, 3458, 3513, 3586, 3658], 'atrophy': [1645, 2470, 2521, 2586, 3320, 3451], 'syndrome),': [1646], 'newly': [1648], 'emerging': [1649, 2525], 'rare': [1650, 1792], 'disorder,': [1652], 'caused': [1653, 1795], 'loss-of-function': [1655, 2775, 2993], 'mutations': [1656, 2457], 'transcriptional': [1659, 2261], 'regulator': [1660, 1759, 2262], 'NR2F1.': [1661, 1802, 2716], 'Young': [1662], 'with': [1664, 1734, 1788, 2061, 2200, 2436, 2467, 2472, 2512, 2543, 2592, 2616, 2695, 3017, 3035, 3083, 3141, 3254, 3686, 4065], 'haploinsufficiency': [1666, 1797, 2514, 3688], 'display': [1667, 1829, 1855], 'mild': [1668, 2201, 3388], 'moderate': [1670, 2203], 'intellectual': [1671, 1784, 2204], 'disability': [1672, 2205], 'show': [1674, 2408, 2720, 2753, 2889], 'reproducible': [1675], 'polymicrogyria-like': [1676, 1836], 'brain': [1677, 1764, 1778, 2040, 2057, 2611, 2671, 2931, 3066, 3091, 3979], 'parietal': [1681, 3195], 'occipital': [1683, 1841, 2756, 2821, 3223, 3238, 3335, 3396, 3528, 3716], 'cortex.': [1684, 2822, 2886, 4085], 'Using': [1685], 'recently': [1687, 2777], 'established': [1688, 2778], 'model,': [1691, 2776], 'found': [1693, 2853, 3203], 'that': [1694, 1998, 2409, 2800, 2854, 2890, 2906, 2950], 'Nr2f1': [1695, 1805, 1843, 1858, 1870, 2263, 2309, 2371, 2410, 2774, 2801, 2907], 'regionally': [1696], 'controls': [1697, 2330, 2803], 'long-term': [1698], 'self-renewal': [1699, 1813, 2807, 2897], 'neural': [1701, 1810, 1885], 'cells': [1703, 1888, 3914, 4042, 4074], 'via': [1704], 'modulation': [1705], 'cell': [1707, 1873, 2109, 2155, 2228, 2339, 2396, 2811, 2826, 2833, 2879, 2963, 4032], 'cycle': [1708, 1874, 2827, 2880, 2964], 'key': [1711, 2312, 3147], 'master': [1714], 'genes,': [1715], 'such': [1716, 1834, 2165, 3175], 'Pax6.': [1718], 'human': [1721, 1763, 1852, 2423, 2863, 3012, 3758, 3819, 3868], 'fetal': [1722, 3861, 3937, 3978, 4057], 'cortex,': [1723, 3850], 'distinct': [1724, 1941, 2809, 2934], 'expression': [1726, 2417, 3827, 3872], 'levels': [1727, 1744, 2895, 3835, 3873], 'encompass': [1728], 'gyri': [1729, 2182, 3403, 3476, 3541, 3599, 3676, 3728, 4019, 4044], 'sulci': [1731, 3923, 4023, 4047], 'correlate': [1733, 2615], 'local': [1735, 2916, 2967, 2977], 'degrees': [1736], 'neurogenic': [1738], 'activity.': [1739], 'addition,': [1741], 'reduced': [1742, 2102], 'cerebral': [1746, 1891], 'organoids': [1747, 2864], 'affect': [1748], 'neurogenesis': [1749, 1900, 2332], 'PAX6': [1751], 'expression.': [1752, 1881], 'We': [1753, 2792, 2948], 'propose': [1754, 2949], 'an': [1757, 2273, 2524, 2841, 2958, 3217], 'area-specific': [1758, 2032, 2959], 'morphology': [1765], 'causative': [1769], 'gene': [1770, 2871, 3106], 'abnormal': [1772, 2031, 2163, 2176, 2253, 2689, 2999, 3722], 'gyrification.': [1773], 'Synopsis': [1774], 'This': [1775, 2925, 3199], 'study': [1776], 'reveals': [1777], 'folding': [1780, 1838, 2690, 2956], 'defects,': [1781], 'linked': [1782], 'disability,': [1785, 3313, 3368, 3439, 3505, 3565, 3639], 'BBSOA': [1789, 2786, 3036, 3255], 'syndrome,': [1790], 'genetic': [1793, 2221, 2891], 'disorder': [1794, 2529], 'transcription': [1800], 'factor': [1801], 'mice,': [1804], 'exerts': [1806], 'control': [1808, 2911], '(NP)': [1812, 1887], 'differentiation.': [1815], 'Human': [1816], 'is': [1818, 1995, 2026, 2272, 2403, 3729, 3896, 3965, 4015, 4037], 'expressed': [1819], 'gradient': [1822, 2303], 'along': [1823, 1964, 2295, 2745, 2922, 3103, 3844], 'primary': [1824, 3884], 'neocortical': [1825, 1832, 1856, 2923], 'convolutions.': [1826, 1842, 2757], 'previously': [1830], 'unreported': [1831], 'malformations,': [1833, 2612], 'aberrant': [1837, 2976], 'expanded': [1840], 'heterozygous': [1844], 'homozygous': [1846], 'mutant': [1847, 2837], 'mice': [1848], 'partially': [1849], 'recapitulate': [1850], 'disease': [1853], 'malformations.': [1857, 2041], 'orchestrates': [1859, 2952], 'NP': [1860, 1872, 1911, 2081, 2152, 2390, 2796, 2846, 2857, 2913], 'proliferation': [1861, 2103, 2397], 'differentiation': [1863, 2814], 'acting': [1865], 'pro-neurogenic': [1868], 'factor.': [1869], 'modulates': [1871], 'regulating': [1877], 'P21': [1878, 2882], 'Pax6': [1880, 2894], 'Introduction': [1882], 'During': [1883], 'development,': [1884, 2730, 3617], 'shape': [1889, 2177], 'cortex': [1892, 2861, 3196, 3397, 3529, 3535, 3593, 3670, 3889], 'means': [1894, 4092], 'delicate': [1897], 'balance': [1898, 2805], '(differentiation)': [1901], 'maintenance': [1904], '(self-renewal)': [1905], '(Florio': [1906], 'Huttner,': [1908], '2014).': [1909, 1957], 'Different': [1910], 'subtypes': [1912, 1943], 'concur': [1913], 'produce': [1915], 'neurons': [1916, 1927, 2123], 'direct': [1919, 2928], 'or': [1920, 2136, 2673, 2710, 3788], 'indirect': [1921], '(via': [1922], 'intermediate': [1923], 'progenitor—IP)': [1924], 'way;': [1925], 'differentiating': [1926, 2122], 'migrate': [1928], 'plate': [1932], '(CP),': [1933], 'where': [1934], 'they': [1935], 'settle': [1936], 'down': [1937], 'mature': [1939], 'into': [1940, 1946, 1986], 'neuronal': [1942, 2338, 2817], 'radially': [1944], 'organized': [1945], 'layers': [1947, 1959], 'circuits': [1949], '(Dehay': [1950], 'Kennedy,': [1952], '2007;': [1953, 2324], 'Kumamoto': [1954], 'Hanashima,': [1956], 'However,': [1958], 'homogenously': [1962], 'distributed': [1963], 'antero-posterior': [1966], '(A-P)': [1967], 'latero-medial': [1969], '(L-M)': [1970], 'axes': [1971], 'developing': [1974], 'neocortex,': [1975, 3870], 'generating': [1976], 'histological': [1977], 'discontinuities': [1978], 'cytoarchitecturally': [1980], 'defined': [1981], 'regions,': [1982], 'which': [1983, 2055, 2121, 2613], 'will': [1984], 'differentiate': [1985], 'functional': [1987], 'areas': [1988], '(Alfano': [1989, 2343, 2382], 'Studer,': [1991, 3033], '2013).': [1992], 'Although': [1993, 2370], 'it': [1994, 2025], 'accepted': [1997], 'presumptive': [1999], 'areas,': [2000], 'called': [2001], 'proto-areas,': [2002], 'get': [2003], 'specified': [2004], 'during': [2005, 2314, 2392], 'early': [2006, 2393, 2842], '(Cadwell': [2008], 'al,': [2010, 2097, 2148, 2185, 2193, 2217, 2237, 2245, 2288, 2292, 2319, 2323, 2327, 2335, 2345, 2349, 2353, 2360, 2364, 2368, 2384, 2428, 2432, 2447, 2482, 2486, 2490, 2494, 2498, 2503, 2507, 2568, 2572, 2643, 2647, 2651, 2655, 2659, 2790, 3054, 3058, 3156, 3160], '2019),': [2011, 2246], 'underlying': [2013, 2223, 2252], 'molecular': [2014, 2250, 2850], 'cellular': [2016, 2118, 2248], 'mechanisms': [2017, 2251, 2761], 'still': [2019, 2256], 'elucidated.': [2022], 'particular,': [2024], 'known': [2029, 2269, 2869], 'whether': [2030], 'humans': [2035], 'can': [2036, 2070, 2111, 2926], 'lead': [2037, 2112], 'particular': [2039], 'Malformations': [2042], '(MCDs)': [2046], 'represent': [2047, 2780], 'heterogenous': [2049, 2170], 'group': [2050, 2171], 'diseases': [2053], 'structural': [2056], 'anomalies': [2058], 'associated': [2060, 2199, 2471, 2542], 'complex': [2062], 'disorders': [2064, 2100, 3274, 3373], '(Juric-Sekhar': [2065], 'Hevner,': [2067, 2189, 2241], '2019).': [2068, 2791], 'They': [2069], 'be': [2071, 2233, 2400, 2678], 'classified': [2072], 'basis': [2075, 2764], 'their': [2077, 2127, 3015, 4013], 'etiology:': [2078], 'impairments': [2079], 'proliferation,': [2082], 'neurogenesis,': [2083], 'neuron': [2084], 'migration,': [2085, 2229], 'differentiation,': [2086], 'apoptosis,': [2087], 'and/or': [2088], 'organization': [2090, 2316], '(Manzini': [2091], 'Walsh,': [2093], '2011;': [2094, 2346, 2350], 'Barkovich': [2095], '2012).': [2098], 'While': [2099], 'result': [2104], 'mainly': [2105, 2577, 3044], 'microcephaly,': [2107], 'altered': [2108, 3177], 'migration': [2110, 2156, 2340], 'either': [2113], 'various': [2115], 'types': [2116, 2812], 'heterotopia,': [2119], 'fail': [2124], 'reach': [2126], 'correct': [2128], 'destination': [2129], 'form': [2131], 'aggregates': [2132], 'ectopic': [2134, 3464], 'positions,': [2135], 'thick': [2139], 'disorganized': [2140], 'CP': [2141, 3876, 3920], 'often': [2142, 2198], 'leading': [2143, 2534], 'lissencephaly': [2145], '(Parrini': [2146], '2016).': [2149, 2194, 2218, 3161], 'Finally,': [2150, 2887, 2973], 'physiology': [2153, 2391, 2797, 2858], 'have': [2157, 2462, 2576, 2740, 2927, 3043], 'also': [2158, 2268, 3215, 3822, 3837, 3891, 3999, 4007], 'been': [2159, 2373, 2463], 'hypothesized': [2160], 'cause': [2162, 2995], 'gyrification,': [2164, 3180], 'polymicrogyria': [2167], '(PMG),': [2168], 'characterized': [2174, 3109], 'number': [2179, 4014, 4071], '(Barkovich': [2183], '2012;': [2186], 'Sun': [2187], '2014;': [2190, 2495, 2569, 3055, 3157], 'Parrini': [2191, 2215], 'Gyral': [2195], 'abnormalities': [2196, 2222], '(ID),': [2206], 'infantile': [2207, 3310], 'spasms,': [2208], 'oromotor': [2211], 'skills': [2212], '(Jansen,': [2213], '2005;': [2214], 'Despite': [2219], 'some': [2220], 'MCDs,': [2224], 'particularly': [2225, 2793], 'related': [2226], 'starting': [2231], '(Cappello': [2235], '2013;': [2238, 2361, 2491], 'Juric-Sekhar': [2239], '2019;': [2242, 2652, 2656], 'Uzquiano': [2243], 'understood.': [2259, 2405], '(Nuclear': [2264], 'Receptors': [2265], 'Nomenclature,': [2266], '1999),': [2267], 'COUP-TFI,': [2271], 'orphan': [2274], 'nuclear': [2275], 'receptor': [2276], 'belonging': [2277], 'superfamily': [2280], 'steroid/thyroid': [2283], 'hormone': [2284], 'receptors': [2285], '(Qiu': [2286], '1994;': [2289], '2018).': [2293, 2369, 2448, 2508], 'Expressed': [2294], 'following': [2298], 'high-posterior': [2300], 'low-anterior': [2302], 'progenitors': [2305], 'post-mitotic': [2307, 2377], 'neurons,': [2308], 'plays': [2310], 'several': [2311], 'roles': [2313], 'areal': [2315], '(Zhou': [2317], '2001;': [2320], 'Armentano': [2321], '2018)': [2328], 'both': [2331], '(Faedo': [2333], '2008)': [2336], 'embryonic': [2342], 'Lodato': [2347], 'Parisot': [2351], '2017)': [2354], 'adult': [2356], 'stages': [2357], '(Bovetti': [2358], 'Flore': [2362], '2016;': [2365, 2644], 'Bonzano': [2366], 'has': [2372, 2605], 'extensively': [2374], 'studied': [2375], 'sensory': [2378], 'area': [2379, 3901], 'identity': [2380, 2921], 'acquisition': [2381], '2014),': [2385], 'its': [2386, 2437], 'ultimate': [2387], 'function': [2388], 'corticogenesis,': [2394], 'when': [2395], 'needs': [2398], 'tightly': [2401], 'controlled,': [2402], 'poorly': [2404], 'Recent': [2406], 'reports': [2407, 2633], 'follows': [2413], 'similar': [2415], 'graded': [2416], 'profile': [2418], 'brains,': [2424], 'respectively': [2425], "(Alzu'bi": [2426], '2017a,b;': [2429], 'Yang': [2430], '2017),': [2433], 'accordance': [2435], 'evolutionary': [2438], 'highly': [2439], 'conserved': [2440], 'sequence': [2441, 3107, 3761], 'protein': [2443, 3760], 'homology': [2444], '(Bertacchi': [2445, 2788], 'last': [2451], 'few': [2452], 'years,': [2453], 'deletion': [2454], 'point': [2456, 2698], 'locus': [2461], 'identified': [2464, 2665], 'nerve': [2469, 2585, 3138, 3143, 3569, 3643], 'developmental': [2473, 3111], 'delay,': [2474, 3112, 3302, 3360, 3428, 3499, 3558], 'autistic': [2475], 'features,': [2476, 2722], 'epilepsy,': [2477], 'ID': [2479, 2621, 2721, 3258], '(Brown': [2480], '2009;': [2483, 2487], 'Cardoso': [2484], 'Al-Kateb': [2488], 'Bosch': [2492], 'Chen': [2496, 3056, 3158], '2016,': [2499], '2017;': [2500, 2504], 'Kaiwar': [2501], 'Martín-Hernández': [2505, 2645], 'At': [2509, 2848, 4029], 'present,': [2510], 'diagnosed': [2516, 3082], 'Bosch-Boonstra-Schaaf': [2519], 'syndrome': [2522, 2787, 3256], '(BBSOAS),': [2523], 'autosomal': [2527], 'dominant': [2528], '(OMIM': [2530], '#615722;': [2531], 'ORPHANET': [2532], '#401777)': [2533], 'broad': [2537], 'range': [2538], 'clinical': [2540, 2639, 2989, 3709], 'phenotypes': [2541], 'visual': [2544, 2561, 3446, 3648], 'cognitive': [2546, 3271], 'deficits': [2547, 2562, 3443], 'reviewed': [2548], 'al': [2552], '(2018).': [2553], 'Given': [2554], 'high': [2556, 2618, 3075, 3632], 'prevalence': [2557], '(almost': [2558], '70%)': [2559], '(Bosch': [2566, 3052, 3154], '2018),': [2573], 'previous': [2574], 'studies': [2575], 'focused': [2578, 2794, 3045], 'elucidating': [2580], 'chiasm': [2582, 3050, 3139, 3514, 3587], 'young': [2588, 2603], 'children.': [2589], 'This,': [2590], 'together': [2591, 3140], 'difficulty': [2594], 'obtaining': [2596], 'high-resolution': [2597, 3040], 'magnetic': [2598], 'resonance': [2599], 'imaging': [2600], '(MRI)': [2601], 'at': [2602, 2762, 3183, 3260, 3398, 3832], 'age,': [2604], 'limited': [2606], 'investigation': [2608], 'possible': [2610, 3065], 'could': [2614], 'frequency': [2619, 3076], '(more': [2622], 'than': [2623], '80%)': [2624], 'epileptic': [2626, 3434], 'seizures': [2627], '(40%)': [2628], 'patients.': [2631], 'New': [2632], 'constantly': [2635], 'expanding': [2636, 2986], 'spectrum': [2640], '(Chen': [2641], '2018;': [2648], 'Bojanek': [2649], 'Park': [2653], 'Rech': [2657], '2020),': [2660], 'pathophysiology': [2668], 'different': [2670, 2674, 3833, 3842], 'regions': [2672, 2936, 3747, 3843, 3950, 3994], 'organs': [2675], 'starts': [2676], 'explored.': [2679], 'describe': [2684], 'first': [2687], 'time': [2688], 'new': [2693, 3773], 'novo': [2697, 3099, 3292, 3350, 3418, 3489, 3554, 3612], 'variants': [2699, 2994, 3101, 3248, 3770], 'within': [2700], 'start': [2702], 'codon': [2703], 'translation,': [2705], 'DNA-binding': [2707, 3785], 'Domain': [2708], '(DBD)': [2709, 3787], 'ligand-binding': [2712, 3790], 'domain': [2713, 3786, 3791], '(LBD)': [2714, 3792], 'All': [2717], 'behavioral': [2723, 3113, 3303, 3361, 3429, 3500, 3559], 'delayed': [2726], 'motor': [2727, 3370, 3616], 'language': [2729], 'besides': [2731], 'atrophy.': [2733], 'Interestingly,': [2734, 3162], 'five': [2735, 3173, 3732], 'out': [2736, 3733], 'unilateral': [2742], 'PMG-like': [2743], 'pattern': [2744, 3393, 3469, 3532, 3590, 3667], 'parieto-occipital': [2747], 'region,': [2749], 'two': [2751], 'abnormally': [2754, 2830, 2938, 3236, 3714, 3745], 'elongated': [2755, 3334, 3715], 'To': [2758, 3004], 'understand': [2759, 3005], 'regionalized': [2767], 'morphological': [2768, 2984, 3149, 3280], 'impairment,': [2769], 'used': [2771], 'reliable': [2782], 'animal': [2783], 'model': [2784], 'showed': [2799], 'finely': [2802], 'specific': [2816, 2970], 'classes': [2818], 'Notably,': [2823], 'observed': [2825, 3692], 'shortening': [2828], 'increased': [2831, 4017], 'proliferative': [2832], 'divisions': [2834], 'embryo,': [2838], 'resulting': [2839, 3060], 'expansion': [2843], 'pool.': [2847], 'level,': [2851, 4033], 'Nr2f1/NR2F1': [2855, 2951], 'influences': [2856], 'modulating': [2866], 'PAX6,': [2867], 'patterning': [2870], 'controlling': [2872], 'expansion,': [2874], 'inhibitor': [2881], 'manipulation': [2892], 'rescues': [2896], 'features': [2898, 2985, 3150, 3251], 'Nr2f1-deficient': [2900], 'NPs.': [2901], 'Together,': [2902], 'our': [2903], 'data': [2904, 3128, 3214, 4088], 'demonstrate': [2905], 'operates': [2908], 'physiology,': [2914], 'linking': [2915], 'activity': [2918], 'positional': [2920], 'axes.': [2924], 'consequences': [2929], 'morphology,': [2932], 'developed': [2939], 'model.': [2947], 'size': [2954], 'manner': [2960], 'fine-tuning': [2962], 'progression': [2965], 'production': [2968], 'subtypes.': [2972], 'suggest': [2975], 'phenotype.': [2990], 'Results': [2991], 'etiology': [3007], 'correlation': [3016], 'ID,': [3018], 'ascertained': [3020], 'collection': [3022], 'seventeen': [3024], '(M.': [3029], 'M.': [3032], 'unpublished)': [3034], 'syndrome.': [3037], 'Previously': [3038], 'published': [3039], 'MRI': [3041, 3090, 3127, 3213, 3261, 3703], 'scans': [3042, 3092], 'nerve/optic': [3049], 'hypotrophy': [3051, 3144], '2016),': [3059], 'poor': [3062], 'characterization': [3063], 'due': [3068], 'pathogenic': [3071], 'variants,': [3072], 'despite': [3073], 'being': [3081], 'ID.': [3084], 'carrying': [3097], 'localized': [3102], 'whole': [3105], 'speech': [3115, 3306, 3432, 3502, 3618], 'difficulties,': [3116, 3307, 3433, 3619], 'autistic-like': [3118, 3314, 3506, 3566, 3640], 'traits': [3119, 3567, 3641], '(Table': [3120], '1;': [3121], 'Fig': [3122, 3699, 3823, 3838, 3892, 4000], '1A–G).': [3123], 'Analysis': [3124], 'from': [3125, 3857, 3933, 3974, 4053], 'revealed': [3129, 3168], 'thinning': [3131], 'corpus': [3134, 3324, 3383, 3455, 3522, 3581, 3653], 'callosum': [3135, 3456, 3654], '(Fig': [3145, 3197, 3211, 3233, 3242], 'EV1A–F),': [3146], 'diagnostic': [3148], 'careful': [3163], 'analysis': [3164], 'axial': [3166], 'images': [3167], 'subtle': [3169], 'patients,': [3174], 'patterns': [3178], 'resembling': [3181], 'PMG,': [3182], 'level': [3185, 3272, 3909, 3955], 'supramarginal': [3188, 3400, 3473, 3538, 3596, 3673, 3725], 'angular': [3190, 3402, 3475, 3540, 3598, 3675, 3727], 'convolutions': [3191, 3239, 3336, 3717, 3885, 3973], 'inferior': [3194], '1B–F).': [3198, 3212], 'microgyria-like': [3200], 'abnormality': [3201], 'was': [3202, 4075], 'only': [3204], 'always': [3206], 'left': [3209], 'side': [3210], 'disclosed': [3216], 'elongation': [3218], 'right': [3221], 'superior': [3222, 3460], 'gyrus': [3224, 3904], 'without': [3225], 'evident': [3226], 'defects': [3228], 'patient': [3230, 3775], '(P)': [3231], '1': [3232, 3284, 3298, 3707, 3860, 3936, 3977, 4056], '1A)': [3234], 'prominent': [3237], 'P2': [3241, 3339], 'EV1B).': [3243], 'Table': [3244, 3706], '1.': [3245, 3680], 'Novel': [3246], 'phenotypic': [3250], 'Patient': [3257, 3711], 'Gender/Age': [3259], 'evaluation': [3262], 'Genetics': [3263], 'Silico': [3265], 'features:': [3267], 'general': [3268, 3277], 'Neurological': [3269], 'exam:': [3270], 'Ophthalmologic': [3273], 'Brain': [3275, 3278], 'MRI:': [3276, 3279], 'P1': [3282], 'Female,': [3283, 3407, 3480, 3545], 'year': [3285], '4': [3286, 3931, 3972, 4051], 'months': [3287, 3344, 3411, 3484, 3549, 3607], 'chr5:g.92921154G>A;': [3288], 'NM_005654.4:c.425G>A;': [3289], 'p.Arg142His;': [3290], 'GnomAD:': [3293, 3351, 3419, 3490, 3555, 3613], '0': [3294, 3352, 3420, 3491, 3556, 3614], 'CADD:': [3295, 3353, 3421, 3492], '33': [3296], 'Polyphen-2:': [3297, 3355, 3423, 3494], 'GERP:': [3299, 3357, 3425, 3496], '3.7': [3300], 'Developmental': [3301, 3359, 3427, 3498, 3557], 'hypotonia,': [3305, 3363, 3431, 3561], 'stereotype': [3308], 'movements,': [3309, 3441], 'spasms': [3311], 'Intellectual': [3312, 3367, 3438, 3504, 3564, 3638], 'traits,': [3315, 3507], 'hyperactive': [3316, 3508], 'behavior': [3317, 3509], 'Amblyopia;': [3318], 'Thinning': [3321, 3376, 3452, 3510, 3515, 3574], 'callosum;': [3325, 3384, 3523], 'hypoplasia': [3326, 3583], 'nerves': [3329, 3659], 'chiasm;': [3332], 'Abnormally': [3333], '(right': [3337], 'side)': [3338, 3405, 3478, 3543, 3601, 3678], 'Male,': [3340, 3603], '3': [3341, 3481, 3855], 'years': [3342, 3409, 3482, 3547, 3605], '7': [3343, 3548], 'chr5:g.92923888_92923889': [3345], 'delinsCT;': [3346], 'NM_005654.4:c.729_730delinsCT;': [3347], 'p.Gln244*;': [3348], '50': [3354, 4114], 'ND': [3356, 3424, 3426], '4.5': [3358], 'bilateral': [3364, 3449], 'inguinal': [3365], 'hernias': [3366], 'fine': [3369], 'praxis': [3372], 'Hypermetropia,': [3374], 'strabismus': [3375], 'posterior': [3379, 3471, 3518, 3577], 'half': [3380, 3519, 3578], 'ventricular': [3385, 3389], 'asymmetry,': [3386], 'enlargement': [3390], 'Abnormal': [3391, 3467, 3530, 3588, 3665], 'gyral': [3392, 3468, 3531, 3589, 3666], '(left': [3404, 3477, 3542, 3600, 3677], 'P3': [3406], '5': [3408, 3483], '10': [3410], 'chr5': [3412], 'g.92920844G>T;': [3413], 'NM_005654.4:': [3414], 'c.115G>T;': [3415], 'p.Glu39*;': [3416], '36': [3422], 'seizures,': [3435], 'precocious': [3436], 'puberty': [3437], 'stereotypical': [3440, 3562], 'attention': [3442], 'Strabismus,': [3444], 'low': [3445, 3647], 'acuity,': [3447, 3649], 'severe': [3448, 3636], 'chiasm,': [3459, 3661], 'cerebellar': [3461], 'vermis': [3462], 'atrophy,': [3463, 3570, 3644], 'nodular': [3465], 'heterotopy': [3466], 'temporal,': [3472], 'P4': [3479], 'chr5:g.92920731T>C;': [3485], 'NM_005654.4:c.2T>C;': [3486], 'p.?': [3487], '22': [3493], '0.02': [3495], '2.3': [3497], 'difficulties': [3503], 'small': [3524], 'asymmetry': [3525], 'P5': [3544], '6': [3546], 'chr5:g.92921021T>C;': [3550], 'NM_005654.4:c.292T>C;': [3551], 'p.Tyr98His;': [3552], 'movements': [3563], 'Optic': [3568, 3642], 'strabismus,': [3571, 3645], 'hypermetropia,': [3572, 3646], 'nystagmus': [3573], 'callosum,': [3582], 'P6': [3602], '12': [3604], '2': [3606, 3982], 'chr5:g.92924126_92924127delAA': [3608], 'NM_005654.4:c.967_968delAA': [3609], 'p.Lys323Serfs*73': [3610], 'Delayed': [3615], 'pectus': [3620], 'excavatum,': [3621], 'pes': [3622], 'planus,': [3623], 'scoliosis,': [3624], 'triangular': [3625], 'face,': [3626], 'thin': [3627, 3657], 'upper': [3628], 'lip,': [3629], 'anteverted': [3630], 'nares,': [3631], 'palate,': [3633], 'gastroesophageal': [3634], 'reflux,': [3635], 'apnea': [3637], 'tubular': [3650], 'vision': [3651], 'Short': [3652], '(<3rd': [3655], 'percentile),': [3656], 'hypoplastic': [3662], 'olfactory': [3663], 'lobes': [3664], 'Figure': [3679], 'Cortical': [3681, 3690], 'A–F.': [3689], '(See': [3698], 'EV1A–F': [3700], 'additional': [3702], 'panel': [3704], 'features).': [3710], '(P)1': [3712], 'shows': [3713], '(arrowheads': [3718], 'A),': [3720], 'whereas': [3721], 'present': [3730], 'individuals': [3736], '(P2-P6;': [3737], 'B-F).': [3738], 'B′,': [3739], 'C′,': [3740], 'C″': [3742], 'highlight': [3743], 'convoluted': [3746], 'boxed': [3748], '(B': [3750], 'C).': [3752], 'G.': [3753], 'Schematic': [3754], 'representation': [3755], '(based': [3762], 'current': [3765], 'annotation:': [3766], 'https://www.ncbi.nlm.nih.gov/protein/NP_005645.1),': [3767], 'showing': [3768, 3871], 'cohort.': [3776], 'Key': [3777], 'amino': [3778], 'acids': [3779], 'functioning': [3782], 'listed': [3794], 'boxes.': [3796], 'H,': [3797], 'H′.': [3798], 'TBR2': [3799, 3944], '(green': [3800], 'H),': [3802, 3806], 'SOX2': [3803], '(red': [3804], '(yellow': [3809], 'H′)': [3811], 'immunofluorescence': [3812], '(IF)': [3813], 'GW11': [3816], 'section': [3817], '(see': [3821, 3836, 3890, 3998], 'EV1G–G‴).': [3824], 'I.': [3825], '(quantified': [3828], 'pixel': [3830, 3963, 4035], 'intensity)': [3831], 'L-M': [3834], 'EV1G–G‴)': [3839], 'A-P': [3846], 'extent': [3847], 'indicated.': [3852], 'n': [3853, 3858, 3929, 3934, 3970, 3975, 4049, 4054], '≥': [3854, 3930, 3971, 4050], 'sections': [3856, 3932, 4052], '=': [3859, 3935, 3976, 3981, 4055], 'brain.': [3862, 3938, 4058], 'J–L′.': [3863], '(red)': [3865, 3942, 3986], 'IF': [3866], 'GW14': [3869], '(K,': [3877], 'L)': [3878], 'VZ': [3880, 3917], '(K′,': [3881], 'L′)': [3882], 'around': [3883], 'posterior-most': [3888], 'EV1H).': [3893, 4001], 'High': [3894], 'detected': [3897], '(L′).': [3905], 'M,': [3906], 'M′.': [3907], 'measured': [3911, 3957], 'single': [3913, 3959, 4031], '(M)': [3918], '(M′)': [3921], 'gyri,': [3925], '(J-L′).': [3928, 3953], 'N,': [3939], 'O.': [3940], '(green)': [3945, 3989], 'immunostaining': [3946, 3990], 'same': [3949, 3993], 'shown': [3951, 3966, 3995], 'TBR2+': [3960], 'IPs': [3961], 'intensity': [3964, 4036], 'graph': [3968], '(O).': [3969], '(n': [3980], 'sections).': [3983], 'P–R.': [3984], 'HOPX': [3988], '(J-L′)': [3997], 'Virtually,': [4002], 'all': [4003], 'HOPX+': [4004, 4041], 'bRGs': [4005], 'NR2F1+': [4008], '(magnification': [4009], 'P″)': [4011], 'greatly': [4016], '(P″)': [4020], 'compared': [4021, 4045], '(P′),': [4024], 'quantified': [4026, 4076], '(R).': [4028], 'higher': [4038], 'oSVZ': [4040], '(Q).': [4048], 'Data': [4059], 'information:': [4060], 'Nuclei': [4061], '(blue)': [4062], 'were': [4063], 'stained': [4064], 'DAPI.': [4066], '(I,': [4068], 'R),': [4069], 'positive': [4073], '100': [4078], 'μm-width': [4079], 'boxes,': [4080], 'randomly': [4081], 'placed': [4082], 'across': [4083], 'graphs,': [4087], 'represented': [4090], '±': [4093], 'SEM.': [4094], 'Two-way': [4095], 'ANOVA': [4096], '(I)': [4097], 'Student′s': [4099], 't-test': [4100], '(M,': [4101], 'M′,': [4102], 'O,': [4103], 'Q,': [4104], 'R)': [4105], '(*P': [4106], '<': [4107, 4110], '0.05,': [4108], '***P': [4109], '0.001).': [4111], 'Scale': [4112], 'bars:': [4113], 'μm.': [4115], 'CP:': [4116], 'cor': [4117]}, 'cited_by_api_url': 'https://api.openalex.org/works?filter=cites:W3032314173', 'counts_by_year': [{'year': 2024, 'cited_by_count': 15}, {'year': 2023, 'cited_by_count': 22}, {'year': 2022, 'cited_by_count': 12}, {'year': 2021, 'cited_by_count': 10}, {'year': 2020, 'cited_by_count': 3}], 'updated_date': '2024-12-30T02:33:56.896128', 'created_date': '2020-06-05'}
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