Natural history of alkaptonuria C Phornphutkul, WJ Introne, MB Perry, I Bernardini, MD Murphey, ... New England journal of medicine 347 (26), 2111-2121, 2002 | 733 | 2002 |
Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy P Navon Elkan, SB Pierce, R Segel, T Walsh, J Barash, S Padeh, ... New England Journal of Medicine 370 (10), 921-931, 2014 | 662 | 2014 |
Epilepsy, Ataxia, Sensorineural Deafness, Tubulopathy, and KCNJ10 Mutations D Bockenhauer, S Feather, HC Stanescu, S Bandulik, AA Zdebik, ... New England Journal of Medicine 360 (19), 1960-1970, 2009 | 609 | 2009 |
Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios X Zhu, S Petrovski, P Xie, EK Ruzzo, YF Lu, K McSweeney, B Ben-Zeev, ... Genetics in Medicine 17 (10), 774-781, 2015 | 363 | 2015 |
NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet α-granules M Gunay-Aygun, TC Falik-Zaccai, T Vilboux, Y Zivony-Elboum, F Gumruk, ... Nature genetics 43 (8), 732-734, 2011 | 284 | 2011 |
Integrin α3 Mutations with Kidney, Lung, and Skin Disease C Has, G Spartà, D Kiritsi, L Weibel, A Moeller, V Vega-Warner, A Waters, ... New England Journal of Medicine 366 (16), 1508-1514, 2012 | 281 | 2012 |
Mutation of a new gene causes a unique form of Hermansky–Pudlak syndrome in a genetic isolate of central Puerto Rico Y Anikster, M Huizing, J White, YO Shevchenko, DL Fitzpatrick, ... Nature genetics 28 (4), 376-380, 2001 | 248 | 2001 |
Type III 3-methylglutaconic aciduria (optic atrophy plus syndrome, or Costeff optic atrophy syndrome): identification of the OPA3 gene and its founder mutation in Iraqi Jews Y Anikster, R Kleta, A Shaag, WA Gahl, O Elpeleg The American Journal of Human Genetics 69 (6), 1218-1224, 2001 | 217 | 2001 |
The genetic landscape and epidemiology of phenylketonuria A Hillert, Y Anikster, A Belanger-Quintana, A Burlina, BK Burton, ... The American Journal of Human Genetics 107 (2), 234-250, 2020 | 212 | 2020 |
CTNS mutations in an American-based population of cystinosis patients V Shotelersuk, D Larson, Y Anikster, G McDowell, R Lemons, I Bernardini, ... The American Journal of Human Genetics 63 (5), 1352-1362, 1998 | 197 | 1998 |
Hermansky–Pudlak syndrome and related disorders of organelle formation M Huizing, Y Anikster, WA Gahl Traffic 1 (11), 823-835, 2000 | 184 | 2000 |
Deficiency of asparagine synthetase causes congenital microcephaly and a progressive form of encephalopathy EK Ruzzo, JM Capo-Chichi, B Ben-Zeev, D Chitayat, H Mao, AL Pappas, ... Neuron 80 (2), 429-441, 2013 | 178 | 2013 |
Mutation in TECPR2 reveals a role for autophagy in hereditary spastic paraparesis D Oz-Levi, B Ben-Zeev, EK Ruzzo, Y Hitomi, A Gelman, K Pelak, ... The American Journal of Human Genetics 91 (6), 1065-1072, 2012 | 177 | 2012 |
Nonsense mutations in ADTB3A cause complete deficiency of the β3A subunit of adaptor complex-3 and severe Hermansky-Pudlak syndrome type 2 M Huizing, CD Scher, E Strovel, DL Fitzpatrick, LM Hartnell, Y Anikster, ... Pediatric research 51 (2), 150-158, 2002 | 175 | 2002 |
Dopamine transporter deficiency syndrome: phenotypic spectrum from infancy to adulthood J Ng, J Zhen, E Meyer, K Erreger, Y Li, N Kakar, J Ahmad, H Thiele, ... Brain 137 (4), 1107-1119, 2014 | 166 | 2014 |
Gray platelet syndrome: natural history of a large patient cohort and locus assignment to chromosome 3p M Gunay-Aygun, Y Zivony-Elboum, F Gumruk, D Geiger, M Cetin, ... Blood, The Journal of the American Society of Hematology 116 (23), 4990-5001, 2010 | 166 | 2010 |
Biallelic mutations in DNAJC12 cause hyperphenylalaninemia, dystonia, and intellectual disability Y Anikster, TB Haack, T Vilboux, B Pode-Shakked, B Thöny, N Shen, ... The American Journal of Human Genetics 100 (2), 257-266, 2017 | 156 | 2017 |
The genomic region encompassing the nephropathic cystinosis gene (CTNS): complete sequencing of a 200-kb segment and discovery of a novel gene within the common cystinosis … JW Touchman, Y Anikster, NL Dietrich, VVB Maduro, G McDowell, ... Genome research 10 (2), 165-173, 2000 | 156 | 2000 |
A Congenital Neutrophil Defect Syndrome Associated with Mutations in VPS45 T Vilboux, A Lev, MCV Malicdan, AJ Simon, P Järvinen, T Racek, ... New England Journal of Medicine 369 (1), 54-65, 2013 | 144 | 2013 |
CD59 deficiency is associated with chronic hemolysis and childhood relapsing immune-mediated polyneuropathy Y Nevo, B Ben-Zeev, A Tabib, R Straussberg, Y Anikster, Z Shorer, ... Blood, The Journal of the American Society of Hematology 121 (1), 129-135, 2013 | 141 | 2013 |