| Microdeletion/duplication at 15q13. 2q13. 3 among individuals with features of autism and other neuropsychiatric disorders DT Miller, Y Shen, LA Weiss, J Korn, I Anselm, C Bridgemohan, GF Cox, ... Journal of medical genetics 46 (4), 242-248, 2009 | 387 | 2009 |
| Deletions of NRXN1 (neurexin‐1) predispose to a wide spectrum of developmental disorders MSL Ching, Y Shen, WH Tan, SS Jeste, EM Morrow, X Chen, ... American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 153 …, 2010 | 346 | 2010 |
| The spectrum of vascular anomalies in patients with PTEN mutations: implications for diagnosis and management WH Tan, HN Baris, PE Burrows, CD Robson, AI Alomari, JB Mulliken, ... Journal of medical genetics 44 (9), 594-602, 2007 | 260 | 2007 |
| GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects K Platzer, H Yuan, H Schütz, A Winschel, W Chen, C Hu, H Kusumoto, ... Journal of medical genetics 54 (7), 460-470, 2017 | 222 | 2017 |
| Isolated sulfite oxidase deficiency: a case report with a novel mutation and review of the literature WH Tan, FS Eichler, S Hoda, MS Lee, H Baris, CA Hanley, PE Grant, ... Pediatrics 116 (3), 757-766, 2005 | 170 | 2005 |
| A neurodevelopmental survey of Angelman syndrome with genotype-phenotype correlations JK Gentile, WH Tan, LT Horowitz, CA Bacino, SA Skinner, ... Journal of Developmental & Behavioral Pediatrics 31 (7), 592-601, 2010 | 156 | 2010 |
| Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus‐specific database M Bower, R Salomon, J Allanson, C Antignac, F Benedicenti, E Benetti, ... Human mutation 33 (3), 457-466, 2012 | 147 | 2012 |
| De novo mutations in protein kinase genes CAMK2A and CAMK2B cause intellectual disability S Küry, GM van Woerden, T Besnard, MP Onori, X Latypova, MC Towne, ... The American Journal of Human Genetics 101 (5), 768-788, 2017 | 145 | 2017 |
| Angelman syndrome: Mutations influence features in early childhood WH Tan, CA Bacino, SA Skinner, I Anselm, R Barbieri‐Welge, ... American journal of medical genetics Part A 155 (1), 81-90, 2011 | 138 | 2011 |
| Cognitive and behavioral characterization of 16p11. 2 deletion syndrome E Hanson, RH Nasir, A Fong, A Lian, R Hundley, Y Shen, BL Wu, IA Holm, ... Journal of Developmental & Behavioral Pediatrics 31 (8), 649-657, 2010 | 127 | 2010 |
| Defining the phenotypic spectrum of SLC6A1 mutations KM Johannesen, E Gardella, T Linnankivi, C Courage, A de Saint Martin, ... Epilepsia 59 (2), 389-402, 2018 | 120 | 2018 |
| A dyadic approach to the delineation of diagnostic entities in clinical genomics LG Biesecker, MP Adam, FS Alkuraya, AR Amemiya, MJ Bamshad, ... The American Journal of Human Genetics 108 (1), 8-15, 2021 | 116 | 2021 |
| If not Angelman, what is it? A review of Angelman‐like syndromes WH Tan, LM Bird, RL Thibert, CA Williams American Journal of Medical Genetics Part A 164 (4), 975-992, 2014 | 112 | 2014 |
| CHMP1A encodes an essential regulator of BMI1-INK4A in cerebellar development GH Mochida, VS Ganesh, MI De Michelena, H Dias, KD Atabay, ... Nature genetics 44 (11), 1260-1264, 2012 | 104 | 2012 |
| A homozygous mutation in the tight-junction protein JAM3 causes hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts GH Mochida, VS Ganesh, JM Felie, D Gleason, RS Hill, KR Clapham, ... The American Journal of Human Genetics 87 (6), 882-889, 2010 | 104 | 2010 |
| Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications KM Johannesen, Y Liu, CE Gjerulfsen, M Koko, L Sonnenberg, J Schubert, ... Cold Spring Harbor Laboratory Press, 2021 | 84 | 2021 |
| Mutations in PYCR2, encoding pyrroline-5-carboxylate reductase 2, cause microcephaly and hypomyelination T Nakayama, A Al-Maawali, M El-Quessny, A Rajab, S Khalil, JM Stoler, ... The American Journal of Human Genetics 96 (5), 709-719, 2015 | 80 | 2015 |
| Analysis of EEG patterns and genotypes in patients with Angelman syndrome M Vendrame, T Loddenkemper, M Zarowski, M Gregas, H Shuhaiber, ... Epilepsy & Behavior 23 (3), 261-265, 2012 | 77 | 2012 |
| Electrophysiological phenotype in Angelman syndrome differs between genotypes J Frohlich, MT Miller, LM Bird, P Garces, H Purtell, MC Hoener, BD Philpot, ... Biological psychiatry 85 (9), 752-759, 2019 | 70 | 2019 |
| Disruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopmental abnormalities JC Hodge, E Mitchell, V Pillalamarri, TL Toler, F Bartel, HM Kearney, ... Molecular psychiatry 19 (3), 368-379, 2014 | 68 | 2014 |
