Publications by authors named "Ada Hamosh"

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The HUGO Clinical Genomics & Genomic Medicine Education Survey: clinicians globally need and want genomic medicine training.
Charles Wray, Edward S Tobias, Dhavendra Kumar, Qasim Ayub, Ada Hamosh

Hum Genomics· November 2025

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Mondo: Integrating Disease Terminology Across Communities.
Nicole A Vasilevsky, Sabrina Toro, Nicolas Matentzoglu, Joseph E Flack, Kathleen R Mullen, Ada Hamosh

Genetics· October 2025

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From Expert Judgment to Structured Guidelines: A Brief History and Bright Future of DNA Variant Interpretation.
Andreas Laner, Bin Alwi Zilfalil, Sherifa Ahmed Hamed, Huy Do, Iscia Lopes-Cendes, Ada Hamosh

Ann Hum Genet· September 2025

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Bringing our genomes to medicine - the 2026 human genome meeting.
George P Patrinos, Juergen K V Reichardt, Piero Carninci, Ada Hamosh, Christina Mitropoulou

Hum Genomics· August 2025

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Expression of concern for global biomedical research by the human genome organization (HUGO).
Ada Hamosh, Fabiana Arzuaga, Karen B Avraham, Zilfalil Bin Alwi, Anne Bowcock

Hum Genomics· April 2025

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The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the clinical validity of 111 gene-disease relationships.
Eleanor C Broeren, Vanessa N Gitau, Alicia B Byrne, Pamela Ajuyah, Marie B Balzotti, Ada Hamosh

Genet Med Open· April 2025

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-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.
Laura Cif, Diane Demailly, Jean-Pierre Lin, Katy E Barwick, Mario Sa, Ada Hamosh

ArXiv· February 2025

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Metabolic management of a successful pregnancy and postpartum complications in fructose-1,6-bisphosphatase deficiency.
Callie Ferguson, Anita Madison, Ada Hamosh, Celide Koerner

JIMD Rep· November 2024

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The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the Clinical Validity of 111 Gene-Disease Relationships.
Eleanor Broeren, Vanessa Gitau, Alicia Byrne, Pamela Ajuyah, Marie Balzotti, Ada Hamosh

medRxiv· November 2024

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Implementation of a dyadic nomenclature for monogenic diseases.
Courtney Thaxton, Leslie G Biesecker, Marina DiStefano, Melissa Haendel, Ada Hamosh

Am J Hum Genet· September 2024

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Operational description of rare diseases: a reference to improve the recognition and visibility of rare diseases.
Chiuhui Mary Wang, Amy Heagle Whiting, Ana Rath, Roberta Anido, Diego Ardigò, Ada Hamosh

Orphanet J Rare Dis· September 2024

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Toward robust clinical genome interpretation: Developing a consistent terminology to characterize Mendelian disease-gene relationships-allelic requirement, inheritance modes, and disease mechanisms.
Angharad M Roberts, Marina T DiStefano, Erin Rooney Riggs, Katherine S Josephs, Fowzan S Alkuraya, Ada Hamosh

Genet Med· February 2024

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Lipodystrophy in methylmalonic acidemia associated with elevated FGF21 and abnormal methylmalonylation.
Irini Manoli, Justin R Sysol, PamelaSara E Head, Madeline W Epping, Oksana Gavrilova, Ada Hamosh

JCI Insight· February 2024

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The impact of the Turkish population variome on the genomic architecture of rare disease traits.
Zeynep Coban-Akdemir, Xiaofei Song, Francisco C Ceballos, Davut Pehlivan, Ender Karaca, Ada Hamosh

Genet Med Open· February 2024

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The Human Phenotype Ontology in 2024: phenotypes around the world.
Michael A Gargano, Nicolas Matentzoglu, Ben Coleman, Eunice B Addo-Lartey, Anna V Anagnostopoulos, Ada Hamosh

Nucleic Acids Res· January 2024

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The remarkable journey of one female individual with ornithine transcarbamylase deficiency diagnosed post-mortem.
RaeLynn Forsyth, Ryan H Peretz, Angela Dempsey, Jacquelyn Britton, Lisa Kratz, Ada Hamosh

JIMD Rep· May 2023

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Towards robust clinical genome interpretation: developing a consistent terminology to characterize disease-gene relationships - allelic requirement, inheritance modes and disease mechanisms.
Angharad M Roberts, Marina T DiStefano, Erin Rooney Riggs, Katherine S Josephs, Fowzan S Alkuraya, Ada Hamosh

medRxiv· April 2023

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Exploring Genes and Phenotypes Within Chromosomal Regions Using OMIM's GeneScout.
Carolyn D Applegate, François Schiettecatte, Ada Hamosh, Joanna S Amberger

Curr Protoc· September 2022

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The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources.
Marina T DiStefano, Scott Goehringer, Lawrence Babb, Fowzan S Alkuraya, Joanna Amberger, Ada Hamosh

Genet Med· August 2022

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Monochorionic twins with 15q26.3 duplication presenting with selective intrauterine growth restriction and discordant cardiac anomalies: A case report.
Suraj Kannan, Joann N Bodurtha, Ada Hamosh, Christopher Jordan

Mol Genet Genomic Med· August 2022

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The impact of GeneMatcher on international data sharing and collaboration.
Ada Hamosh, Elizabeth Wohler, Renan Martin, Sean Griffith, Eliete da S Rodrigues

Hum Mutat· June 2022

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Variant-level matching for diagnosis and discovery: Challenges and opportunities.
Eliete da S Rodrigues, Sean Griffith, Renan Martin, Corina Antonescu, Jennifer E Posey, Ada Hamosh

Hum Mutat· June 2022

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Seven years since the launch of the Matchmaker Exchange: The evolution of genomic matchmaking.
Kym M Boycott, Danielle R Azzariti, Ada Hamosh, Heidi L Rehm

Hum Mutat· June 2022

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The GA4GH Phenopacket schema defines a computable representation of clinical data.
Julius O B Jacobsen, Michael Baudis, Gareth S Baynam, Jacques S Beckmann, Sergi Beltran, Ada Hamosh

Nat Biotechnol· June 2022

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Lumping versus splitting: How to approach defining a disease to enable accurate genomic curation.
Courtney Thaxton, Jennifer Goldstein, Marina DiStefano, Kathleen Wallace, P Dane Witmer, Ada Hamosh

Cell Genom· May 2022

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