Haike Reznik‐Wolf

Clinical disease among patients heterozygous for familial mediterranean fever

Dina Marek‐Yagel, Yackov Berkun, Shai Padeh et al. · Arthritis & Rheumatism · 2009 · 217 citations

Life Sciences, Genetics, Molecular Genetics +17

Mutation in TECPR2 Reveals a Role for Autophagy in Hereditary Spastic Paraparesis

Danit Oz-Levi, Bruria Ben‐Zeev, Elizabeth K. Ruzzo et al. · The American Journal of Human Genetics · 2012 · 167 citations · Full text

Life Sciences, Molecular Biology, Neurology +12

Deficiency of Asparagine Synthetase Causes Congenital Microcephaly and a Progressive Form of Encephalopathy

Elizabeth K. Ruzzo, José‐Mario Capo‐Chichi, Bruria Ben‐Zeev et al. · Neuron · 2013 · 166 citations · Full text

Life Sciences, Neuroscience, Pediatrics +14

Deleterious Mutations in the Zinc-Finger 469 Gene Cause Brittle Cornea Syndrome

Almogit Abu, Moshe Frydman, Dina Marek et al. · The American Journal of Human Genetics · 2008 · 139 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

Mutations in <i>STN1</i> cause Coats plus syndrome and are associated with genomic and telomere defects

Amos J. Simon, Atar Lev, Yong Zhang et al. · The Journal of Experimental Medicine · 2016 · 137 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17