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Author Details

Ada Hamosh
Johns Hopkins University School of Medicine
1991
121
50
PMIDPaper TitleJournal TitlePublished Year
37982373Toward robust clinical genome interpretation: Developing a consistent terminology to characterize Mendelian disease-gene relationships-allelic requirement, inheritance modes, and disease mechanisms.Genet Med2024
37953324The Human Phenotype Ontology in 2024: phenotypes around the world.Nucleic Acids Res2024
37066232Towards robust clinical genome interpretation: developing a consistent terminology to characterize disease-gene relationships - allelic requirement, inheritance modes and disease mechanisms.medRxiv2023
37151362The remarkable journey of one female individual with ornithine transcarbamylase deficiency diagnosed post-mortem.JIMD Rep2023
35170833The impact of GeneMatcher on international data sharing and collaboration.Hum Mutat2022
35705716The GA4GH Phenopacket schema defines a computable representation of clinical data.Nat Biotechnol2022
35507016The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources.Genet Med2022
35795918Monochorionic twins with 15q26.3 duplication presenting with selective intrauterine growth restriction and discordant cardiac anomalies: A case report.Mol Genet Genomic Med2022
35537081Seven years since the launch of the Matchmaker Exchange: The evolution of genomic matchmaking.Hum Mutat2022
35754516Lumping versus splitting: How to approach defining a disease to enable accurate genomic curation.Cell Genom2022
36130039Exploring Genes and Phenotypes Within Chromosomal Regions Using OMIM's GeneScout.Curr Protoc2022
35191117Variant-level matching for diagnosis and discovery: Challenges and opportunities.Hum Mutat2022
33098347Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome.Am J Med Genet A2021
33658631Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior.Genet Med2021
35072136GA4GH: International policies and standards for data sharing across genomic research and healthcare.Cell Genom2021
34407837PhenoDB, GeneMatcher and VariantMatcher, tools for analysis and sharing of sequence data.Orphanet J Rare Dis2021
34581472Three decades of the Human Genome Organization.Am J Med Genet A2021
34478655Response to Biesecker et al.Am J Hum Genet2021
34159717Viewing Victor McKusick's legacy through the lens of his bibliography.Am J Med Genet A2021
33960641Next-generation sequencing and the evolution of data sharing.Am J Med Genet A2021
34096551Orthopaedic Problems in 35 Patients With Organic Acid Disorders.J Pediatr Orthop2021
34338430Festschrift for Victor A. McKusick on the Centenary of his Birth: Introduction.Am J Med Genet A2021
34313375Memories of Victor A. McKusick.Am J Med Genet A2021
34169650Online Mendelian Inheritance in Man (OMIM®): Victor McKusick's magnum opus.Am J Med Genet A2021
34257233Orthopaedic Manifestations of Inborn Errors of Metabolism.JBJS Rev2021
32339034Genomic Data Sharing for Novel Mendelian Disease Gene Discovery: The Matchmaker Exchange.Annu Rev Genomics Hum Genet2020
31994743The utility of exome sequencing for fetal pleural effusions.Prenat Diagn2020
32020066How many rare diseases are there?Nat Rev Drug Discov2020
33150406KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.Brain2020
30445645OMIM.org: leveraging knowledge across phenotype-gene relationships.Nucleic Acids Res2019
29930391Bioinformatics for medical students: a 5-year experience using OMIM® in medical student education.Genet Med2019
31178128Pathogenic Variants in NUP214 Cause "Plugged" Nuclear Pore Channels and Acute Febrile Encephalopathy.Am J Hum Genet2019
29323668Professional responsibilities regarding the provision, publication, and dissemination of patient phenotypes in the context of clinical genetic and genomic testing: points to consider-a statement of the American College of Medical Genetics and Genomics (ACMG).Genet Med2018
27195816The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families.Genet Med2017
28475856International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases.Am J Hum Genet2017
29044468Matchmaker Exchange.Curr Protoc Hum Genet2017
28513610Haploinsufficiency of ZNF462 is associated with craniofacial anomalies, corpus callosum dysgenesis, ptosis, and developmental delay.Eur J Hum Genet2017
28699299"Matching" consent to purpose: The example of the Matchmaker Exchange.Hum Mutat2017
28654725Searching Online Mendelian Inheritance in Man (OMIM): A Knowledgebase of Human Genes and Genetic Phenotypes.Curr Protoc Bioinformatics2017
27899602The Human Phenotype Ontology in 2017.Nucleic Acids Res2017
26997609The management of pregnancy and delivery in 3-hydroxy-3-methylglutaryl-CoA lyase deficiency.Am J Med Genet A2016
26394714Genotype-phenotype correlation of congenital anomalies in multiple congenital anomalies hypotonia seizures syndrome (MCAHS1)/PIGN-related epilepsy.Am J Med Genet A2016
27463701KIF5A mutations cause an infantile onset phenotype including severe myoclonus with evidence of mitochondrial dysfunction.Ann Neurol2016
26917586EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy.Brain2016
25032988Horizontal integration of OMIM across the medical school preclinical curriculum for early reinforcement of clinical genetics principles.Genet Med2015
26299366Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss.Am J Hum Genet2015
26295439The Matchmaker Exchange: a platform for rare disease gene discovery.Hum Mutat2015
26220891GeneMatcher: a matching tool for connecting investigators with an interest in the same gene.Hum Mutat2015
26166479The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities.Am J Hum Genet2015
25684268New tools for Mendelian disease gene identification: PhenoDB variant analysis module; and GeneMatcher, a web-based tool for linking investigators with an interest in the same gene.Hum Mutat2015
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Collaborators

Johns Hopkins School of Medicine
Co-authored papers 18
Johns Hopkins University
Co-authored papers 17
Johns Hopkins University School of Medicine
Co-authored papers 16
Johns Hopkins University School of Medicine
Co-authored papers 16
Johns Hopkins University
Co-authored papers 13
The Broad Institute of MIT and Harvard
Co-authored papers 13
William Harvey Research Institute, Queen Mary University of London
Co-authored papers 11
Johns Hopkins University School of Medicine
Co-authored papers 10
American Medical Informatics Association, Oregon Health and Science University, Oregon State University, University of Colorado Anschutz Medical Campus, University of North Carolina at Chapel Hill, University of Wisconsin-Madison
Co-authored papers 9
Johns Hopkins University School of Medicine
Co-authored papers 9
Co-authored papers 8
FS Consulting LLC
Co-authored papers 8
The Johns Hopkins University
Co-authored papers 7
Perth Children's Hospital
Co-authored papers 7
Clinical Genetics, Addenbrooke's Hospital, Cambridge University Hospitals
Co-authored papers 7
Children's Hospital of Eastern Ontario
Co-authored papers 7
Johns Hopkins University School of Medicine
Co-authored papers 7
Johns Hopkins McKusick-Nathans Department of Genetic Medicine
Co-authored papers 6
The Johns Hopkins University School of Medicine
Co-authored papers 6
Center for Inherited Disease Research, Johns Hopkins School of Medicine
Co-authored papers 6
Baylor College of Medicine
Co-authored papers 5
The Hospital for Sick Children
Co-authored papers 5
Baylor College of Medicine
Co-authored papers 5
International Society for Biocuration, Lawrence Berkeley National Laboratory, University of Edinburgh, University of Edinburgh School of Biological Sciences
Co-authored papers 5
University of Washington
Co-authored papers 5
Division of Emergency Medicine University of Calgary Calgary Alberta Canada.
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University of Toronto
Co-authored papers 5
INSERM
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William Harvey Research Institute, Queen Mary University of London
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University of Colorado - Anschutz Medical Campus
Co-authored papers 4