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American College of Medical Genetics | Researchclopedia

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American College of Medical Genetics

Bethesda, Marylandeducation

339

Works

38,607

Citations

83

h-index

Top Research Topics

Genomics and Rare Diseases BRCA gene mutations in cancer Metabolism and Genetic Disorders

Top Researchers

Francis S. Collins National Institutes of Health

829 works187,519 citationsh-index: 182

Recent Research

Perspective Chapter: Cutting-Edge Genomic Technologies in the Field of Cancer Cytogenetics

20260 citations

Prenatal Screening and Diagnostics

Ethics in Clinical Research

Genomic variations and chromosomal abnormalities

Genetic factors in colorectal cancer

Biomedical Ethics and Regulation

Folate and B Vitamins Research

Lysosomal Storage Disorders Research

Neurogenetic and Muscular Disorders Research

Cancer Genomics and Diagnostics

2,136 works75,851 citationsh-index: 112

Josée Dupuis Boston University

614 works62,199 citationsh-index: 104

Marylyn D. Ritchie Emory University

778 works55,704 citationsh-index: 101

Katherine L. Nathanson Boston University

1,158 works51,453 citationsh-index: 115

Constantine A. Stratakis Institute of Molecular Biology and Biotechnology

1,869 works48,444 citationsh-index: 111

Universal Presence of Gene/Variant Nomenclature Errors in Journal Manuscript Submissions

Lisa Lansdon,Binu Porath,et al.

20260 citations

O40: The E3 Genomics Pathways Program: Building a sustainable workforce in medical genetics and genomics

Yekaterina Unnikumaran,Ying Zou

20260 citations

Variant classification for mucopolysaccharidosis type I; ACMG/AMP specification for IDUA from the ClinGen Lysosomal Diseases Variant Curation Expert Panel

Melanie Lacaria,Jennifer L. Goldstein,et al.

20260 citations

P104: Gene-specific ACMG/AMP variant classification rules for ornithine transcarbamylase, N-acetylglutamate synthase, and carbamylphosphate synthetase 1*

Ljubica Caldovic,Nicholas AhMew,et al.

20260 citations

Medical genetics and genomics residency programs: Trends in applications, match rates, and matriculation from 2015 to 2024

Annie Niehaus,David A. Stevenson,et al.

20250 citations