Donna M. Muzny

Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing

Yaping Yang, Donna M. Muzny, Fan Xia et al. · JAMA · 2014 · 1.4K citations · Full text

Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation

Jennifer E. Posey, Tamar Harel, Pengfei Liu et al. · New England Journal of Medicine · 2016 · 752 citations · Full text

Use of Exome Sequencing for Infants in Intensive Care Units

Linyan Meng, Mohan Pammi, Anirudh Saronwala et al. · JAMA Pediatrics · 2017 · 422 citations · Full text

COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis

Levi B. Watkin, Birthe Jessen, Wojciech Wiszniewski et al. · Nature Genetics · 2015 · 385 citations · Full text

Rheumatoid Disorder, Rheumatology, Inflammatory Lung Disease +11

Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease

Ender Karaca, Tamar Harel, Davut Pehli̇van et al. · Neuron · 2015 · 332 citations · Full text