Katherine A Lafferty

Comprehensive Diagnostic Testing for Stereocilin

Diana Mandelker, Sami S. Amr, Trevor J. Pugh et al. · Journal of Molecular Diagnostics · 2014 · 68 citations · Full text

Medical Diagnostics, Engineering, Medicine +8

Familial ebstein anomaly, left ventricular hypertrabeculation, and ventricular septal defect associated with a <i>MYH7</i> mutation

Audra L. Bettinelli, Theodorus Mulder, Birgit Funke et al. · American Journal of Medical Genetics Part A · 2013 · 38 citations

Juvenile myelomonocytic leukemia-associated variants are associated with neo-natal lethal Noonan syndrome

Heather Mason‐Suares, Diana M. Toledo, Jean Gekas et al. · European Journal of Human Genetics · 2017 · 27 citations · Full text

Hematological Malignancy, Mixed-phenotype Acute Leukemia, Genetics +4

Assessing Deaf Awareness Training: Knowledge and Attitudes of Recent Genetic Counseling Graduates

Honey Nagakura, Gretchen Schneider, James Morris et al. · Journal of Genetic Counseling · 2014 · 19 citations · Full text

A synonymous variant in MYO15A enriched in the Ashkenazi Jewish population causes autosomal recessive hearing loss due to abnormal splicing

Yoel Hirsch, Chayada Tangshewinsirikul, Kevin T. Booth et al. · European Journal of Human Genetics · 2021 · 14 citations · Full text

Synonymous Variant, Mendelian Disorder, Genetic Disorder +11