| High rate of recurrent de novo mutations in developmental and epileptic encephalopathies FF Hamdan, CT Myers, P Cossette, P Lemay, D Spiegelman, AD Laporte, ... The American Journal of Human Genetics 101 (5), 664-685, 2017 | 401 | 2017 |
| Exome sequencing and the management of neurometabolic disorders M Tarailo-Graovac, C Shyr, CJ Ross, GA Horvath, R Salvarinova, XC Ye, ... New England Journal of Medicine 374 (23), 2246-2255, 2016 | 312 | 2016 |
| Transcriptional regulation of BACE1, the β-amyloid precursor protein β-secretase, by Sp1 MA Christensen, W Zhou, H Qing, A Lehman, S Philipsen, W Song Molecular and cellular biology 24 (2), 865-874, 2004 | 270 | 2004 |
| Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans J Halbritter, AA Bizet, M Schmidts, JD Porath, DA Braun, HY Gee, ... The American Journal of Human Genetics 93 (5), 915-925, 2013 | 236 | 2013 |
| Histone lysine methylases and demethylases in the landscape of human developmental disorders V Faundes, WG Newman, L Bernardini, N Canham, J Clayton-Smith, ... The American Journal of Human Genetics 102 (1), 175-187, 2018 | 205 | 2018 |
| Mutations in NOTCH1 cause Adams-Oliver syndrome AB Stittrich, A Lehman, DL Bodian, J Ashworth, Z Zong, H Li, P Lam, ... The American Journal of Human Genetics 95 (3), 275-284, 2014 | 186 | 2014 |
| Mutations in B4GALNT1 (GM2 synthase) underlie a new disorder of ganglioside biosynthesis GV Harlalka, A Lehman, B Chioza, EL Baple, R Maroofian, H Cross, ... Brain 136 (12), 3618-3624, 2013 | 133 | 2013 |
| OCRL1 mutations in Dent 2 patients suggest a mechanism for phenotypic variability AE Shrimpton, RR Hoopes Jr, SJ Knohl, P Hueber, AAC Reed, ... Nephron Physiology 112 (2), p27-p36, 2009 | 116 | 2009 |
| Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly D Alcantara, AE Timms, K Gripp, L Baker, K Park, S Collins, C Cheng, ... Brain 140 (10), 2610-2622, 2017 | 115 | 2017 |
| Loss-of-function and gain-of-function mutations in KCNQ5 cause intellectual disability or epileptic encephalopathy A Lehman, S Thouta, GMS Mancini, S Naidu, M van Slegtenhorst, ... The American Journal of Human Genetics 101 (1), 65-74, 2017 | 108 | 2017 |
| Mitochondrial carbonic anhydrase VA deficiency resulting from CA5A alterations presents with hyperammonemia in early childhood CD van Karnebeek, WS Sly, CJ Ross, R Salvarinova, J Yaplito-Lee, ... The American Journal of Human Genetics 94 (3), 453-461, 2014 | 108 | 2014 |
| Natural history of vanishing white matter EMC Hamilton, HDW van der Lei, G Vermeulen, JAM Gerver, ... Annals of neurology 84 (2), 274-288, 2018 | 98 | 2018 |
| Mosaic activating mutations in FGFR1 cause encephalocraniocutaneous lipomatosis JT Bennett, TY Tan, D Alcantara, M Tétrault, AE Timms, D Jensen, ... The American Journal of Human Genetics 98 (3), 579-587, 2016 | 98 | 2016 |
| Heterozygous loss-of-function mutations in DLL4 cause Adams-Oliver syndrome JAN Meester, L Southgate, AB Stittrich, H Venselaar, SJA Beekmans, ... The American Journal of Human Genetics 97 (3), 475-482, 2015 | 94 | 2015 |
| The cost and diagnostic yield of exome sequencing for children with suspected genetic disorders: a benchmarking study N Dragojlovic, AM Elliott, S Adam, C van Karnebeek, A Lehman, ... Genetics in Medicine 20 (9), 1-9, 2018 | 85 | 2018 |
| The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants K Tatton-Brown, A Zachariou, C Loveday, A Renwick, S Mahamdallie, ... Wellcome open research 3, 2018 | 85 | 2018 |
| Mutations in the chromatin regulator gene BRPF1 cause syndromic intellectual disability and deficient histone acetylation K Yan, J Rousseau, RO Littlejohn, C Kiss, A Lehman, JA Rosenfeld, ... The American Journal of Human Genetics 100 (1), 91-104, 2017 | 81 | 2017 |
| Illness experience, depression, and anxiety in chronic fatigue syndrome AM Lehman, DR Lehman, KJ Hemphill, DR Mandel, LM Cooper Journal of psychosomatic research 52 (6), 461-465, 2002 | 73 | 2002 |
| Mutations in the spliceosome component CWC27 cause retinal degeneration with or without additional developmental anomalies M Xu, YA Xie, H Abouzeid, CT Gordon, A Fiorentino, Z Sun, A Lehman, ... The American Journal of Human Genetics 100 (4), 592-604, 2017 | 70 | 2017 |
| RAPIDOMICS: rapid genome-wide sequencing in a neonatal intensive care unit—successes and challenges AM Elliott, C du Souich, A Lehman, I Guella, DM Evans, T Candido, ... European Journal of Pediatrics 178, 1207-1218, 2019 | 69 | 2019 |
