Mordechai Shohat

Mitochondrial ribosomal RNA mutation associated with both antibiotic–induced and non–syndromic deafness

Toni R. Prezant, John Agapian, Marlene C. Bohlman et al. · Nature Genetics · 1993 · 1.2K citations

Genetics, Pathogenesis, Molecular Biology +7

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 · 690 citations

Autosomal Recessive Ichthyosis with Hypotrichosis Caused by a Mutation in ST14, Encoding Type II Transmembrane Serine Protease Matriptase

Lina Basel‐Vanagaite, Revital Attia, Akemi Ishida‐Yamamoto et al. · The American Journal of Human Genetics · 2007 · 188 citations · Full text

Autosomal Recessive Ichthyosis, Medicine, Genetics +5

Retinopathy of Prematurity: Incidence and Risk Factors

Mordechai Shohat, Salomon H. Reisner, R. Krikler et al. · PEDIATRICS · 1983 · 181 citations

Ocular Disease, Neonatology, Ophthalmology +11

Mutations in NDUFAF3 (C3ORF60), Encoding an NDUFAF4 (C6ORF66)-Interacting Complex I Assembly Protein, Cause Fatal Neonatal Mitochondrial Disease

Ann Saada, Rutger O. Vogel, Saskia J.G. Hoefs et al. · The American Journal of Human Genetics · 2009 · 169 citations · Full text

Mitochondrial Biogenesis, Mitochondrial Function, Genetics +4