Joy Samanich

Germline gain-of-function mutations in AFF4 cause a developmental syndrome functionally linking the super elongation complex and cohesin

Kosuke Izumi, Ryuichiro Nakato, Zhe Zhang et al. · Nature Genetics · 2015 · 149 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

A Novel C-Terminal CIB2 (Calcium and Integrin Binding Protein 2) Mutation Associated with Non-Syndromic Hearing Loss in a Hispanic Family

Kunjan Patel, Arnaud P. J. Giese, Jonathan M Grossheim et al. · PLoS ONE · 2015 · 75 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Enhanced Maternal Origin of the 22q11.2 Deletion in Velocardiofacial and DiGeorge Syndromes

Maria Delio, Tingwei Guo, Donna M. McDonald‐McGinn et al. · The American Journal of Human Genetics · 2013 · 65 citations · Full text

Life Sciences, Genetics, Molecular Genetics +9

Mutations in <i>GJB2</i>, <i>GJB6</i>, and mitochondrial DNA are rare in African American and Caribbean Hispanic individuals with hearing impairment

Joy Samanich, Christina Lowes, Robert D. Burk et al. · American Journal of Medical Genetics Part A · 2007 · 52 citations

Medicine, Genetics, Molecular Genetics +15

A unique presentation of Wiskott–Aldrich syndrome in relation to platelet size

Payal Patel, Joy Samanich, W. Beau Mitchell et al. · Pediatric Blood & Cancer · 2011 · 29 citations

Medicine, Genetics, Hematology +14