Sarah Scollon

Diagnostic Yield of Clinical Tumor and Germline Whole-Exome Sequencing for Children With Solid Tumors

D. Williams Parsons, Angshumoy Roy, Yaping Yang et al. · JAMA Oncology · 2016 · 482 citations · Full text

Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine

Robert C. Green, Katrina A.B. Goddard, Gail P. Jarvik et al. · The American Journal of Human Genetics · 2016 · 161 citations · Full text

Epidemiology, Sequencing, Medicine +7

The Clinical Sequencing Evidence-Generating Research Consortium: Integrating Genomic Sequencing in Diverse and Medically Underserved Populations

Laura M. Amendola, Jonathan S. Berg, Carol R. Horowitz et al. · The American Journal of Human Genetics · 2018 · 158 citations · Full text

Bioinformatics, Medicine, Genetics +12

Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features

Paweł Stankiewicz, Tahir Naeem Khan, Przemysław Szafrański et al. · The American Journal of Human Genetics · 2017 · 111 citations · Full text

Developmental Anomaly, Chromatin, Developmental Biology +13

Experiences with obtaining informed consent for genomic sequencing

Barbara A. Bernhardt, Myra I. Roche, Denise Perry et al. · American Journal of Medical Genetics Part A · 2015 · 104 citations