Ann Katherine M. Foreman

Actionable exomic incidental findings in 6503 participants: challenges of variant classification

Laura M. Amendola, Michael O. Dorschner, Peggy D. Robertson et al. · Genome Research · 2015 · 369 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Prenatal exome sequencing in anomalous fetuses: new opportunities and challenges

Neeta L. Vora, Bradford C. Powell, Alicia Brandt et al. · Genetics in Medicine · 2017 · 180 citations · Full text

Medicine, Genetics, Molecular Genetics +16

Specifications of the ACMG/AMP variant interpretation guidelines for germline <i>TP53</i> variants

Cristina Fortuño, Kristy Lee, Magali Olivier et al. · Human Mutation · 2020 · 165 citations · Full text

Life Sciences, Genetics, Oncology +17

Genomic Sequencing for Newborn Screening: Results of the NC NEXUS Project

Tamara S. Roman, Stephanie B. Crowley, Myra I. Roche et al. · The American Journal of Human Genetics · 2020 · 125 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Variant Classification Concordance using the ACMG-AMP Variant Interpretation Guidelines across Nine Genomic Implementation Research Studies

Laura M. Amendola, Kathleen Muenzen, Leslie G. Biesecker et al. · The American Journal of Human Genetics · 2020 · 110 citations · Full text

Life Sciences, Bioinformatics, Genetics +14