Yair Anikster

Natural History of Alkaptonuria

Chanika Phornphutkul, Wendy J. Introne, Monique B. Perry et al. · New England Journal of Medicine · 2002 · 644 citations · Full text

The Genetic Landscape and Epidemiology of Phenylketonuria

Alicia Hillert, Yair Anikster, Amaya Bélanger-Quintana et al. · The American Journal of Human Genetics · 2020 · 339 citations · Full text

Genetic Landscape, Genetic Disorder, Medicine +6

Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios

Xiaolin Zhu, Slavé Petrovski, Pingxing Xie et al. · Genetics in Medicine · 2015 · 337 citations · Full text

NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet α-granules

Meral Gunay‐Aygun, Tzipora C. Falik‐Zaccai, Thierry Vilboux et al. · Nature Genetics · 2011 · 255 citations · Full text

Blood Platelet, Genetics, Pathogenesis +8

Integrin α ₃ Mutations with Kidney, Lung, and Skin Disease

Cristina Has, Giuseppina Spartà, Dimitra Kiritsi et al. · New England Journal of Medicine · 2012 · 238 citations · Full text