Anne C. Spencer

A Keratin 14 Mutational Hot Spot for Epidermolysis Bullosa Simplex, Dowling-Meara: Implications for Diagnosis

Karen Stephens, Virginia P Syber, Ellen M. Wijsman et al. · Journal of Investigative Dermatology · 1993 · 76 citations

Medicine, Dermatology, Pathology +6

Primers for Exon-Specific Amplification of the KRT5 Gene: Identification of Novel and Recurrent Mutations in Epidermolysis Bullosa Simplex Patients

Karen Stephens, Pamela Ehrlich, Molly Weaver et al. · Journal of Investigative Dermatology · 1997 · 75 citations · Full text

Medicine, Genetics, Molecular Genetics +5

A Common Keratin 5 Gene Mutation in Epidermolysis Bullosa Simplex–Weber-Cockayne

Pamela Ehrlich, Virginia P. Sybert, Anne C. Spencer et al. · Journal of Investigative Dermatology · 1995 · 32 citations · Full text

Medicine, Dermatology, Genetics +8

Highly Penetrant Alterations of a Critical Region Including BDNF in Human Psychopathology and Obesity

Carl Ernst, Christian R. Marshall, Yiping Shen et al. · Archives of General Psychiatry · 2012 · 25 citations · Full text

Life Sciences, Genetics, Psychiatry +17

A Genotype-First Approach for the Molecular and Clinical Characterization of Uncommon De Novo Microdeletion of 20q13.33

Ryan N. Traylor, Damien L. Bruno, Trent Burgess et al. · PLoS ONE · 2010 · 25 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15