关注
Yair Anikster
Yair Anikster
Director Metabolic Disease Unit
在 sheba.health.gov.il 的电子邮件经过验证
标题
引用次数
引用次数
年份
Natural history of alkaptonuria
C Phornphutkul, WJ Introne, MB Perry, I Bernardini, MD Murphey, ...
New England journal of medicine 347 (26), 2111-2121, 2002
7332002
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
6622014
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
6092009
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
3632015
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
2842011
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
2812012
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
2482001
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
2172001
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
2122020
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
1971998
Hermansky–Pudlak syndrome and related disorders of organelle formation
M Huizing, Y Anikster, WA Gahl
Traffic 1 (11), 823-835, 2000
1842000
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
1782013
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
1772012
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
1752002
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
1662014
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
1662010
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
1562017
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
1562000
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
1442013
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
1412013
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