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Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 5, 2024
Management of individuals with heterozygous germline pathogenic variants in ATM: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)Tuya Pal, Katherine R Schon, Esteban Astiazaran-Symonds, et al.
Human Mutation|March 1, 2020
Int22h1/Int22h2-mediated Xq28 duplication syndrome: de novo duplications, prenatal diagnoses, and additional phenotypic featuresRami A Ballout, Cheryl Dickerson, Myra J Wick, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 10, 2025
Management of individuals with heterozygous germline pathogenic variants in RAD51C, RAD51D, and BRIP1: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)Joanne Ngeow, Jianbang Chiang, Esteban Astiazaran-Symonds, et al.
The Journal of Maternal-Fetal & Neonatal Medicine : the Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians|January 19, 2026
Ultrasound and SNP-based cell-free DNA zygosity testing in twin pregnanciesRuben Quintero, K Joseph Hurt, Neeta L Vora, et al.
JAMA|April 11, 2013
Long QT syndrome-associated mutations in intrauterine fetal deathLia Crotti, David J Tester, Wendy M White, et al.
Journal of the National Comprehensive Cancer Network : JNCCN|January 2, 2017
NCCN Guidelines Insights: Genetic/Familial High-Risk Assessment: Breast and Ovarian, Version 2.2017Mary B Daly, Robert Pilarski, Michael Berry, et al.
Mayo Clinic Proceedings|March 6, 2016
Outcome of Whole Exome Sequencing for Diagnostic Odyssey Cases of an Individualized Medicine Clinic: The Mayo Clinic ExperienceKonstantinos N Lazaridis, Kimberly A Schahl, Margot A Cousin, et al.
Human Genetics|March 28, 2024
Semiautomated approach focused on new genomic information results in time and effort-efficient reannotation of negative exome dataAlejandro Ferrer, Patrick Duffy, Rory J Olson, et al.
Journal of the National Comprehensive Cancer Network : JNCCN|February 7, 2016
Genetic/Familial High-Risk Assessment: Breast and Ovarian, Version 2.2015Mary B Daly, Robert Pilarski, Jennifer E Axilbund, et al.
Journal of the National Comprehensive Cancer Network : JNCCN|April 8, 2020
NCCN Guidelines Insights: Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 1.2020Mary B Daly, Robert Pilarski, Matthew B Yurgelun, et al.
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