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American Journal of Medical Genetics. Part A|June 18, 2019
Perinatal distress in 1p36 deletion syndrome can mimic hypoxic ischemic encephalopathyLauren B Carter, Agatino Battaglia, Athena Cherry, et al.JCO Precision Oncology|November 4, 2022
Development and Validation of a Breast Cancer Polygenic Risk Score on the Basis of Genetic Ancestry CompositionElisha Hughes, Susanne Wagner, Dmitry Pruss, et al.Human Mutation|December 10, 2020
Specifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variantsCristina Fortuno, Kristy Lee, Magali Olivier, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 3, 2024
Validation of a clinical breast cancer risk assessment tool combining a polygenic score for all ancestries with traditional risk factorsBrent Mabey, Elisha Hughes, Matthew Kucera, et al.Human Mutation|October 13, 2018
Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline CDH1 sequence variantsKristy Lee, Kate Krempely, Maegan E Roberts, et al.NPJ Breast Cancer|November 10, 2017
Erratum: Author Correction: The contribution of pathogenic variants in breast cancer susceptibility genes to familial breast cancer riskThomas P Slavin, Kara N Maxwell, Jenna Lilyquist, et al.NPJ Breast Cancer|June 27, 2017
The contribution of pathogenic variants in breast cancer susceptibility genes to familial breast cancer riskThomas P Slavin, Kara N Maxwell, Jenna Lilyquist, et al.Neurology. Genetics|June 14, 2019
Loss-of-function mutations in Lysyl-tRNA synthetase cause various leukoencephalopathy phenotypesChong Sun, Jie Song, Yanjun Jiang, et al.JCO Precision Oncology|September 21, 2020
Mutation Rates in Cancer Susceptibility Genes in Patients With Breast Cancer With Multiple Primary CancersKara N Maxwell, Brandon M Wenz, Abha Kulkarni, et al.Journal of the National Comprehensive Cancer Network : JNCCN|September 6, 2019
NCCN Guidelines Insights: Genetic/Familial High-Risk Assessment: Colorectal, Version 2.2019Samir Gupta, Dawn Provenzale, Xavier Llor, et al.Pageof 9