Reeval Segel

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

Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia

Esther Meyer, Keren Carss, Julia Rankin et al. · Nature Genetics · 2016 · 245 citations · Full text

Life Sciences, Genetics, Molecular Biology +10

Acute Infantile Liver Failure Due to Mutations in the TRMU Gene

Avraham Zeharia, Avraham Shaag, Orit Pappo et al. · The American Journal of Human Genetics · 2009 · 227 citations · Full text

Medicine, Genetics, Molecular Genetics +14

Spinal Muscular Atrophy with Pontocerebellar Hypoplasia Is Caused by a Mutation in the VRK1 Gene

Paul Renbaum, Efrat Kellerman, Ranit Jaron et al. · The American Journal of Human Genetics · 2009 · 194 citations · Full text

Life Sciences, Genetics, Neuroscience +9

Mutations in the Mitochondrial Seryl-tRNA Synthetase Cause Hyperuricemia, Pulmonary Hypertension, Renal Failure in Infancy and Alkalosis, HUPRA Syndrome

Ruth Belostotsky, Efrat Ben‐Shalom, Choni Rinat et al. · The American Journal of Human Genetics · 2011 · 181 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14