Molly B. Sheridan

A Palindrome-Mediated Recurrent Translocation with 3:1 Meiotic Nondisjunction: The t(8;22)(q24.13;q11.21)

Molly B. Sheridan, Takema Kato, Chad Haldeman‐Englert et al. · The American Journal of Human Genetics · 2010 · 118 citations · Full text

Chromatin, Chromosome Dynamics, Cell Division +10

Gross genomic rearrangements involving deletions in the CFTR gene: characterization of six new events from a large cohort of hitherto unidentified cystic fibrosis chromosomes and meta-analysis of the underlying mechanisms

Claude Férec, Teresa Casals, Nadia Chuzhanova et al. · European Journal of Human Genetics · 2006 · 93 citations · Full text

Genetic Disorder, Genetics, Pathology +7

Functional Assays Are Essential for Interpretation of Missense Variants Associated with Variable Expressivity

Karen S. Raraigh, Sangwoo T. Han, Emily F. Davis-Marcisak et al. · The American Journal of Human Genetics · 2018 · 90 citations · Full text

Allelic Variant, Genotype-phenotype Association, Genetic Disorder +8

Mutations in the beta-subunit of the epithelial Na+ channel in patients with a cystic fibrosis-like syndrome

Molly B. Sheridan, Peying Fong, Joshua D. Groman et al. · Human Molecular Genetics · 2005 · 85 citations · Full text

Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 velo-cardio-facial/digeorge/22q11.2 deletion syndrome patients

Tingwei Guo, Donna M. McDonald‐McGinn, Anna Błońska et al. · Human Mutation · 2011 · 74 citations · Full text

Heart Failure, Genetics, Genetic Epidemiology +18