Heidi Cope

Phenotypic Homogeneity Provides Increased Support for Linkage on Chromosome 2 in Autistic Disorder

Yujun Shao, Kimberly L. Raiford, Chantelle M. Wolpert et al. · The American Journal of Human Genetics · 2002 · 172 citations · Full text

Chromatin, Developmental Biology, Genetic Disorder +9

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias

Katherine L. Helbig, Robert J. Lauerer, Jacqueline C Bahr et al. · The American Journal of Human Genetics · 2018 · 145 citations · Full text

Epileptic Encephalopathy, Neurobiology Of Disease, Pathogenesis +10

IRF2BPL Is Associated with Neurological Phenotypes

Paul C. Marcogliese, Vandana Shashi, Rebecca C. Spillmann et al. · The American Journal of Human Genetics · 2018 · 108 citations · Full text

Neurology, Neuroscience, Molecular Neurobiology +4

ClinPhen extracts and prioritizes patient phenotypes directly from medical records to expedite genetic disease diagnosis

Cole A. Deisseroth, Johannes Birgmeier, Ethan E. Bodle et al. · Genetics in Medicine · 2018 · 107 citations · Full text

Genetic Diseases, Medical Records, Medicine +10

TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the ciliary transition zone

Elle C. Roberson, William E. Dowdle, Ayşegül Ozantürk et al. · The Journal of Cell Biology · 2015 · 105 citations · Full text

Mks Complex Formation, Genetics, Pathology +18