Sawona Biswas

Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG)

Kandamurugu Manickam, Monica R. McClain, Laurie Demmer et al. · Genetics in Medicine · 2021 · 629 citations · Full text

Life Sciences, Genetics, Pediatrics +17

Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium

Laura M. Amendola, Gail P. Jarvik, Michael C. Leo et al. · The American Journal of Human Genetics · 2016 · 580 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Effect of Whole-Genome Sequencing on the Clinical Management of Acutely Ill Infants With Suspected Genetic Disease

Ian D. Krantz, Līvija Medne, Jamila Weatherly et al. · JAMA Pediatrics · 2021 · 173 citations · Full text

Life Sciences, Genetics, Pediatrics +17

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 · 164 citations · Full text

Life Sciences, Bioinformatics, Molecular Medicine +16

Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study

Ragan Hart, Barbara B. Biesecker, Carrie L. Blout Zawatsky et al. · Genetics in Medicine · 2018 · 162 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15