Ada Hamosh

Biochemistry, Genetics and Molecular Biology · Life Sciences

63h-index30.3kcitations201works3.12yr avg
OpenAlex↗ORCID↗Google Scholar↗

Accepting Students?

No reports yet. Know if this professor is taking students?

Research Topics

Genomics and Rare Diseases(84), Genomic variations and chromosomal abnormalities(48), Metabolism and Genetic Disorders(27), Cancer Genomics and Diagnostics(25), Cystic Fibrosis Research Advances(23)

Publications198 total

Response to Zlotogora
Genetics in Medicine·2026
The HUGO Clinical Genomics & Genomic Medicine Education Survey: clinicians globally need and want genomic medicine training
Human Genomics·2025Open Access
Bringing our genomes to medicine – the 2026 human genome meeting
Human Genomics·2025Open Access
From Expert Judgment to Structured Guidelines: A Brief History and Bright Future of DNA Variant Interpretation
Annals of Human Genetics·2025· 1 citedOpen Access
Expression of concern for global biomedical research by the human genome organization (HUGO)
Human Genomics·2025Open Access
<i>KMT2B</i>-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.
PubMed·2025· 9 citedOpen Access
O44: OMIM Phenotypic and molecular series: Windows into genetic heterogeneity and molecular etiology
Genetics in Medicine Open·2025Open Access
P722: VariantMatcher and the variant-level matching network to facilitate variant classification and disease gene discovery
Genetics in Medicine Open·2025Open Access
P527: The first online genetic assistant training program: Curriculum, student demographics and outcomes
Genetics in Medicine Open·2025Open Access
P273: A decade of rapid exome sequencing at a tertiary care center
Genetics in Medicine Open·2025Open Access
The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the clinical validity of 111 gene-disease relationships
Genetics in Medicine Open·2025Open Access
The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the Clinical Validity of 111 Gene-Disease Relationships
2024· 1 citedOpen Access
Metabolic management of a successful pregnancy and postpartum complications in fructose‐1,6‐bisphosphatase deficiency
JIMD Reports·2024Open Access
Operational description of rare diseases: a reference to improve the recognition and visibility of rare diseases
Orphanet Journal of Rare Diseases·2024· 20 citedOpen Access
Implementation of a dyadic nomenclature for monogenic diseases
The American Journal of Human Genetics·2024· 15 citedOpen Access
Lipodystrophy in methylmalonic acidemia associated with elevated FGF21 and abnormal methylmalonylation
JCI Insight·2024· 3 citedOpen Access
P570: Generating a framework for curating mechanism of disease in monogenic conditions: A consensus effort of the Gene Curation Coalition*
Genetics in Medicine Open·2024Open Access
The impact of the Turkish population variome on the genomic architecture of rare disease traits
Genetics in Medicine Open·2024· 9 citedOpen Access
P155: The ClinGen framework for naming monogenic diseases*
Genetics in Medicine Open·2024Open Access
Toward robust clinical genome interpretation: Developing a consistent terminology to characterize Mendelian disease-gene relationships—allelic requirement, inheritance modes, and disease mechanisms
Genetics in Medicine·2023· 14 citedOpen Access
page 1 of 10Next →

Frequent Co-authors

Joanna Amberger(10), Carol Bocchini(7), Tudor Groza(7), Melissa Haendel(7), Peter N. Robinson(7), Heidi L. Rehm(7), David Valle(6), Chris Mungall(6), Alan F. Scott(5), Sebastian Köhler(5), Nicole Vasilevsky(5), Julie A. McMurry(5), Gareth Baynam(5), Orion J. Buske(5), Helen V. Firth(5), Ana Rath(5), Julius O.B. Jacobsen(5), Julie Hoover‐Fong(5), Milan Maçek(5), Lawrence Babb(5)