Ada Hamosh
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Explore the profile of Ada Hamosh including associated specialties, affiliations and a list of published articles.
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99
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10168
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Recent Articles
1.
Cif L, Cif L, Demailly D, Demailly D, Lin J, Lin J, et al.
ArXiv
. 2025 Feb;
PMID: 39990802
Heterozygous mutations in are associated with an early-onset, progressive and often complex dystonia (DYT28). Key characteristics of typical disease include focal motor features at disease presentation, evolving through a caudocranial...
2.
Coban-Akdemir Z, Song X, Ceballos F, Pehlivan D, Karaca E, Bayram Y, et al.
Genet Med Open
. 2024 Dec;
2:101830.
PMID: 39669594
Purpose: The variome of the Turkish (TK) population, a population with a considerable history of admixture and consanguinity, has not been deeply investigated for insights on the genomic architecture of...
3.
Broeren E, Gitau V, Byrne A, Ajuyah P, Balzotti M, Berg J, et al.
medRxiv
. 2024 Nov;
PMID: 39606380
Purpose: The Clinical Genome Resource (ClinGen) Gene Curation Expert Panels (GCEPs) have historically focused on specific organ systems or phenotypes; thus, the ClinGen Syndromic Disorders GCEP (SD-GCEP) was formed to...
4.
Ferguson C, Madison A, Hamosh A, Koerner C
JIMD Rep
. 2024 Nov;
65(6):401-405.
PMID: 39512430
Fructose-1,6-bisphosphatase (FBPase) deficiency is a rare, inborn error of metabolism, that causes hypoglycemia and lactic acidosis in response to inadequate glucose intake and/or high intakes of fructose, sucrose, or sorbitol....
5.
Wang C, Whiting A, Rath A, Anido R, Ardigo D, Baynam G, et al.
Orphanet J Rare Dis
. 2024 Sep;
19(1):334.
PMID: 39261914
Improving health and social equity for persons living with a rare disease (PLWRD) is increasingly recognized as a global policy priority. However, there is currently no international alignment on how...
6.
Thaxton C, Biesecker L, DiStefano M, Haendel M, Hamosh A, Owens E, et al.
Am J Hum Genet
. 2024 Sep;
111(9):1810-1818.
PMID: 39241757
A core task when establishing the strength of evidence for a gene's role in a monogenic disorder is determining the appropriate disease entity to curate. Establishing this concept determines which...
7.
Manoli I, Sysol J, Head P, Epping M, Gavrilova O, Crocker M, et al.
JCI Insight
. 2024 Jan;
9(4).
PMID: 38271099
A distinct adipose tissue distribution pattern was observed in patients with methylmalonyl-CoA mutase deficiency, an inborn error of branched-chain amino acid (BCAA) metabolism, characterized by centripetal obesity with proximal upper...
8.
Roberts A, DiStefano M, Rooney Riggs E, Josephs K, Alkuraya F, Amberger J, et al.
Genet Med
. 2023 Nov;
26(2):101029.
PMID: 37982373
Purpose: The terminology used for gene-disease curation and variant annotation to describe inheritance, allelic requirement, and both sequence and functional consequences of a variant is currently not standardized. There is...
9.
Gargano M, Matentzoglu N, Coleman B, Addo-Lartey E, Anagnostopoulos A, Anderton J, et al.
Nucleic Acids Res
. 2023 Nov;
52(D1):D1333-D1346.
PMID: 37953324
The Human Phenotype Ontology (HPO) is a widely used resource that comprehensively organizes and defines the phenotypic features of human disease, enabling computational inference and supporting genomic and phenotypic analyses...
10.
Forsyth R, Peretz R, Dempsey A, Britton J, Kratz L, Hamosh A, et al.
JIMD Rep
. 2023 May;
64(3):233-237.
PMID: 37151362
Urea cycle disorders (UCDs) comprise a group of inborn errors of metabolism with impaired ammonia clearance and an incidence of ~1:35 000 individuals. First described in the 1970s, the diagnosis...