Nicole J. Boczek

Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss

Andrea M. Oza, Marina T. DiStefano, Sarah E. Hemphill et al. · Human Mutation · 2018 · 517 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Bi-allelic Alterations in AEBP1 Lead to Defective Collagen Assembly and Connective Tissue Structure Resulting in a Variant of Ehlers-Danlos Syndrome

Patrick R. Blackburn, Xu Zhi, Kathleen E. Tumelty et al. · The American Journal of Human Genetics · 2018 · 175 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

LSINCT5 is over expressed in breast and ovarian cancer and affects cellular proliferation

Jessica Silva-Fisher, Nicole J. Boczek, Michael W. Berres et al. · RNA Biology · 2011 · 170 citations

Life Sciences, Molecular Biology, Oncology +12

A Precision Medicine Approach to the Rescue of Function on Malignant Calmodulinopathic Long-QT Syndrome

Worawan B. Limpitikul, Ivy E. Dick, David J. Tester et al. · Circulation Research · 2016 · 165 citations · Full text

Medicine, Cardiology, Molecular Medicine +17

Spectrum and Prevalence of <i>CALM1</i> -, <i>CALM2</i> -, and <i>CALM3</i> -Encoded Calmodulin Variants in Long QT Syndrome and Functional Characterization of a Novel Long QT Syndrome–Associated Calmodulin Missense Variant, E141G

Nicole J. Boczek, Nieves Gómez‐Hurtado, Dan Ye et al. · Circulation Cardiovascular Genetics · 2016 · 134 citations · Full text

Life Sciences, Cardiology, Genetics +17