Deborah Terespolsky

Haploinsufficiency of<i>SOX5</i>at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features

Allen N. Lamb, Jill A. Rosenfeld, Nicholas J. Neill et al. · Human Mutation · 2012 · 101 citations · Full text

Brain Development, Genetics, Language Development +21

Infantile lethal variant of Simpson‐Golabi‐Behmel syndrome associated with hydrops fetalis

Deborah Terespolsky, Sandra A. Farrell, J. Siegel‐Bartelt et al. · American Journal of Medical Genetics · 1995 · 77 citations

Deletions in chromosome 6p22.3-p24.3, including ATXN1, are associated with developmental delay and autism spectrum disorders

Patrícia B. S. Celestino-Soper, Cindy Skinner, Richard J. Schroer et al. · Molecular Cytogenetics · 2012 · 51 citations · Full text

TMEM43 mutations associated with arrhythmogenic right ventricular cardiomyopathy in non-Newfoundland populations

Berivan Baskin, Jonathan R. Skinner, Shubhayan Sanatani et al. · Human Genetics · 2013 · 49 citations

Cardiomyopathy, Heart Failure, Structural Heart Disease +8

Recurrent HERV-H-Mediated 3q13.2-q13.31 Deletions Cause a Syndrome of Hypotonia and Motor, Language, and Cognitive Delays

Andrey Shuvarikov, Ian M. Campbell, Piotr Dittwald et al. · Human Mutation · 2013 · 49 citations