Samantha Penney

COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis

Levi B. Watkin, Birthe Jessen, Wojciech Wiszniewski et al. · Nature Genetics · 2015 · 399 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

A Drosophila Genetic Resource of Mutants to Study Mechanisms Underlying Human Genetic Diseases

Shinya Yamamoto, Manish Jaiswal, Wu‐Lin Charng et al. · Cell · 2014 · 396 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

Lessons learned from additional research analyses of unsolved clinical exome cases

Mohammad K. Eldomery, Zeynep Coban‐Akdemir, Tamar Harel et al. · Genome Medicine · 2017 · 233 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Heterozygous De Novo and Inherited Mutations in the Smooth Muscle Actin (ACTG2) Gene Underlie Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome

Michael F. Wangler, Claudia Gonzaga‐Jauregui, Tomasz Gambin et al. · PLoS Genetics · 2014 · 142 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

DVL1 Frameshift Mutations Clustering in the Penultimate Exon Cause Autosomal-Dominant Robinow Syndrome

Janson J. White, Juliana F. Mazzeu, Alexander Hoischen et al. · The American Journal of Human Genetics · 2015 · 141 citations · Full text

Life Sciences, Genetics, Molecular Genetics +8