Patricia A. Ward

Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders

Yaping Yang, Donna M. Muzny, Jeffrey G. Reid et al. · New England Journal of Medicine · 2013 · 1.9K citations · Full text

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

Length of uninterrupted CGG repeats determines instability in the FMR1 gene

Evan E. Eichler, Jeanette J. A. Holden, Bradley W. Popovich et al. · Nature Genetics · 1994 · 479 citations

Chromatin, Genome Instability, Fmr1 Gene +13

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

Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males

Daniela del Gaudio, Ping Fang, Fernando Scaglia et al. · Genetics in Medicine · 2006 · 269 citations · Full text

Developmental Biology, Brain Development, Developmental Genetics +7