Melissa A Dempsey

A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort

Girish Putcha, Bassem A. Bejjani, Stacey Bléoo et al. · Genetics in Medicine · 2007 · 167 citations · Full text

Genetic Analysis, Engineering, Genetic Disorder +9

Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy

Johann Böhm, Valérie Biancalana, Elizabeth T. DeChene et al. · Human Mutation · 2012 · 135 citations · Full text

Peripheral Neuropathy, Mendelian Disorder, Autoimmune Disease +15

NSD1 analysis for Sotos syndrome: Insights and perspectives from the clinical laboratory

Darrel Waggoner, Gordana Raca, Katherine O. Welch et al. · Genetics in Medicine · 2005 · 61 citations

Clinical Disorders, Sotos Syndrome, Nsd1 Analysis +7

Mosaicism del(22)(q11.2q11.2)/dup(22)(q11.2q11.2) in a patient with features of 22q11.2 deletion syndrome

Melissa A Dempsey, Stuart Schwartz, Darrel Waggoner · American Journal of Medical Genetics Part A · 2007 · 51 citations

Molecular confirmation of nine cases of Cornelia de Lange syndrome diagnosed prenatally

Melissa A Dempsey, Anthony E. Johnson, B. S. Swope et al. · Prenatal Diagnosis · 2013 · 18 citations