| De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes JB Rivičre, GM Mirzaa, BJ O'Roak, M Beddaoui, D Alcantara, RL Conway, ... Nature genetics 44 (8), 934-940, 2012 | 734 | 2012 |
| G protein-coupled receptor-dependent development of human frontal cortex X Piao, RS Hill, A Bodell, BS Chang, L Basel-Vanagaite, R Straussberg, ... Science 303 (5666), 2033-2036, 2004 | 574 | 2004 |
| Utility of whole‐exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care SL Sawyer, T Hartley, DA Dyment, CL Beaulieu, J Schwartzentruber, ... Clinical genetics 89 (3), 275-284, 2016 | 435 | 2016 |
| The Role of PIEZO2 in Human Mechanosensation AT Chesler, M Szczot, D Bharucha-Goebel, M Čeko, S Donkervoort, ... New England Journal of Medicine 375 (14), 1355-1364, 2016 | 375 | 2016 |
| The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies C Redin, H Brand, RL Collins, T Kammin, E Mitchell, JC Hodge, ... Nature genetics 49 (1), 36-45, 2017 | 325 | 2017 |
| Biallelic Mutations in BRCA1 Cause a New Fanconi Anemia Subtype SL Sawyer, L Tian, M Kähkönen, J Schwartzentruber, M Kircher, ... Cancer discovery 5 (2), 135-142, 2015 | 314 | 2015 |
| SLC39A8 deficiency: a disorder of manganese transport and glycosylation JH Park, M Hogrebe, M Grüneberg, I DuChesne, AL von der Heiden, ... The American Journal of Human Genetics 97 (6), 894-903, 2015 | 294 | 2015 |
| Mutations in DDX3X are a common cause of unexplained intellectual disability with gender-specific effects on Wnt signaling LS Blok, E Madsen, J Juusola, C Gilissen, D Baralle, MRF Reijnders, ... The American Journal of Human Genetics 97 (2), 343-352, 2015 | 286 | 2015 |
| An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes G Wheway, M Schmidts, DA Mans, K Szymanska, TMT Nguyen, H Racher, ... Nature cell biology 17 (8), 1074-1087, 2015 | 256 | 2015 |
| Absence of a paternally inherited FOXP2 gene in developmental verbal dyspraxia L Feuk, A Kalervo, M Lipsanen-Nyman, J Skaug, K Nakabayashi, ... The American Journal of Human Genetics 79 (5), 965-972, 2006 | 246 | 2006 |
| Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype T Kleefstra, WA van Zelst-Stams, WM Nillesen, V Cormier-Daire, G Houge, ... Journal of medical genetics 46 (9), 598-606, 2009 | 242 | 2009 |
| TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone L Huang, K Szymanska, VL Jensen, AR Janecke, AM Innes, EE Davis, ... The American Journal of Human Genetics 89 (6), 713-730, 2011 | 231 | 2011 |
| Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome FP Bernier, O Caluseriu, S Ng, J Schwartzentruber, KJ Buckingham, ... The American Journal of Human Genetics 90 (5), 925-933, 2012 | 229 | 2012 |
| Expanding the phenotypic spectrum of lupus erythematosus in Aicardi‐Goutičres syndrome G Ramantani, J Kohlhase, C Hertzberg, AM Innes, K Engel, S Hunger, ... Arthritis & Rheumatism 62 (5), 1469-1477, 2010 | 223 | 2010 |
| Autosomal-recessive intellectual disability with cerebellar atrophy syndrome caused by mutation of the manganese and zinc transporter gene SLC39A8 KM Boycott, CL Beaulieu, KD Kernohan, OH Gebril, A Mhanni, ... The American Journal of Human Genetics 97 (6), 886-893, 2015 | 217 | 2015 |
| Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations NI Wolf, A Vanderver, RML Van Spaendonk, R Schiffmann, B Brais, ... Neurology 83 (21), 1898-1905, 2014 | 199 | 2014 |
| Update on Kleefstra syndrome MH Willemsen, AT Vulto-van Silfhout, WM Nillesen, WM Wissink-Lindhout, ... Molecular syndromology 2 (3-5), 202-212, 2012 | 197 | 2012 |
| Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency S Lovric, S Goncalves, HY Gee, B Oskouian, H Srinivas, WI Choi, S Shril, ... The Journal of clinical investigation 127 (3), 912-928, 2017 | 195 | 2017 |
| Hepatic carnitine palmitoyltransferase I deficiency presenting as maternal illness in pregnancy AM Innes, LE Seargeant, K Balachandra, CR Roe, RJA Wanders, ... Pediatric research 47 (1), 43-43, 2000 | 186 | 2000 |
| Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked … FJ Kaiser, M Ansari, D Braunholz, M Concepción Gil-Rodríguez, ... Human molecular genetics 23 (11), 2888-2900, 2014 | 183 | 2014 |
Keith Vaux, MDPrivate PracticeVerified email at ucsd.edu
Keith Vaux, MDPrivate PracticeVerified email at ucsd.edu