Karl V. Voelkerding

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Sue Richards, Nazneen Aziz, Sherri J. Bale et al. · Genetics in Medicine · 2015 · 30.5K citations · Full text

Allelic Variant, Sequence Variants, Medicine +11

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

Amplicon DNA Melting Analysis for Mutation Scanning and Genotyping: Cross-Platform Comparison of Instruments and Dyes

Mark G. Herrmann, Jacob Durtschi, L Kathryn Bromley et al. · Clinical Chemistry · 2006 · 279 citations · Full text

Germline Mutations in NFKB2 Implicate the Noncanonical NF-κB Pathway in the Pathogenesis of Common Variable Immunodeficiency

Karin Chen, Emily Coonrod, Attila Kumánovics et al. · The American Journal of Human Genetics · 2013 · 255 citations · Full text

Loss of B Cells in Patients with Heterozygous Mutations in IKAROS

Hye Sun Kuehn, Bertrand Boisson, Charlotte Cunningham‐Rundles et al. · New England Journal of Medicine · 2016 · 243 citations · Full text