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 · 1.7K citations · Full text

Clinical Genome Resource, Genetic Testing, Technical Standards +13

Clinical application of whole-exome sequencing across clinical indications

Kyle Retterer, Jane Juusola, Megan T. Cho et al. · Genetics in Medicine · 2015 · 1K citations · Full text

Bioinformatics, Long-read Sequencing, Whole-exome Sequencing +9

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 · 281 citations · Full text

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 · 169 citations · Full text

Acmg/amp Standards, Dna, Genetics +25

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

Xi Luo, Simone Feurstein, Shruthi Mohan et al. · Blood Advances · 2019 · 151 citations · Full text