Daniel Pineda‐Alvarez

Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen)

Erin Rooney Riggs, Erica Andersen, Athena M. Cherry et al. · Genetics in Medicine · 2019 · 1.8K citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Clinical application of whole-exome sequencing across clinical indications

Kyle Retterer, Jane Juusola, Megan T. Cho et al. · Genetics in Medicine · 2015 · 1.1K citations · Full text

Life Sciences, Genetics, Molecular Medicine +14

Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing

Lisa R. Susswein, Megan L. Marshall, Rachel Nusbaum et al. · Genetics in Medicine · 2015 · 288 citations · Full text

Medicine, Genetics, Oncology +17

Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretation

Elizabeth M. McCormick, Marie T. Lott, Matthew C. Dulik et al. · Human Mutation · 2020 · 188 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

ClinGen Myeloid Malignancy Variant Curation Expert Panel recommendations for germline RUNX1 variants

Xi Luo, Simone Feurstein, Shruthi Mohan et al. · Blood Advances · 2019 · 157 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14