Tzipora C. Falik‐Zaccai

The genetic architecture of Down syndrome phenotypes revealed by high-resolution analysis of human segmental trisomies

Jan O. Korbel, Tal Tirosh‐Wagner, Alexander E. Urban et al. · Proceedings of the National Academy of Sciences · 2009 · 393 citations · Full text

Down Syndrome, Severe Mental Retardation, Developmental Biology +14

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

Prevalence of glucocerebrosidase mutations in the Israeli Ashkenazi Jewish population

Mia Horowitz, Metsada Pasmanik‐Chor, Zvi Borochowitz et al. · Human Mutation · 1998 · 101 citations

Mutations in C8orf37, Encoding a Ciliary Protein, are Associated with Autosomal-Recessive Retinal Dystrophies with Early Macular Involvement

Alejandro Estrada‐Cuzcano, Kornelia Neveling, Susanne Kohl et al. · The American Journal of Human Genetics · 2011 · 98 citations · Full text

Chronic Diarrhea and Juvenile Cataracts: Think Cerebrotendinous Xanthomatosis and Treat

Vladimir M. Berginer, Bella Gross, Morad Khayat et al. · PEDIATRICS · 2008 · 96 citations

Hepatology, Ophthalmology, Biliary Tract +12