Yair Anikster

Mutant Adenosine Deaminase 2 in a Polyarteritis Nodosa Vasculopathy

Paulina Navon Elkan, Sarah B. Pierce, Reeval Segel et al. · New England Journal of Medicine · 2014 · 706 citations

Life Sciences, Genetics, Molecular Genetics +17

Epilepsy, Ataxia, Sensorineural Deafness, Tubulopathy, and <i>KCNJ10</i> Mutations

Detlef Böckenhauer, Sally Feather, Horia Stanescu et al. · New England Journal of Medicine · 2009 · 580 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

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

Yair Anikster, Robert Kleta, Avraham Shaag et al. · The American Journal of Human Genetics · 2001 · 180 citations · Full text

Life Sciences, Genetics, Molecular Genetics +7

The Promoter of a Lysosomal Membrane Transporter Gene, CTNS, Binds Sp-1, Shares Sequences with the Promoter of an Adjacent Gene, CARKL, and Causes Cystinosis If Mutated in a Critical Region

Chanika Phornphutkul, Yair Anikster, Marjan Huizing et al. · The American Journal of Human Genetics · 2001 · 51 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

Mitochondrial epileptic encephalopathy, 3‐methylglutaconic aciduria and variable complex V deficiency associated with <i><scp>TIMM50</scp></i> mutations

Maher Shahrour, Orna Staretz‐Chacham, Danit Dayan et al. · Clinical Genetics · 2016 · 42 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17