Iris Schrijver

GJB2 Mutations and Degree of Hearing Loss: A Multicenter Study

Rikkert L. Snoeckx, P.L.M. Huygen, Delphine Feldmann et al. · The American Journal of Human Genetics · 2005 · 551 citations · Full text

Genetic Disorder, Genetics, Audiology +9

College of American Pathologists' Laboratory Standards for Next-Generation Sequencing Clinical Tests

Nazneen Aziz, Qin Zhao, Lynn Bry et al. · Archives of Pathology & Laboratory Medicine · 2014 · 376 citations

Cysteine Substitutions in Epidermal Growth Factor–Like Domains of Fibrillin-1: Distinct Effects on Biochemical and Clinical Phenotypes

Iris Schrijver, Wei Liu, Thomas Brenn et al. · The American Journal of Human Genetics · 1999 · 228 citations · Full text

Cysteine Substitutions, Fibrosis, Signal Transduction +10

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

Systematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approach

Belinda Giardine, Joseph Borg, Douglas R. Higgs et al. · Nature Genetics · 2011 · 160 citations · Full text