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Paper Details

Toward robust clinical genome interpretation: Developing a consistent terminology to characterize Mendelian disease-gene relationships-allelic requirement, inheritance modes, and disease mechanisms.
Genet Med
2
2024
ACMG SF 2, Mendelian disease, human
Author NameAffiliation
Angharad M RobertsNational Heart & Lung Institute & MRC London Institute of Medical Sciences, Imperial College London, Great Ormond Street Hospital
Angharad M RobertsNational Heart & Lung Institute & MRC London Institute of Medical Sciences, Imperial College London, Great Ormond Street Hospital
Marina T DiStefanoBroad Institute of MIT and Harvard
Erin Rooney RiggsGeisinger Autism & Developmental Medicine Institute
Fowzan S AlkurayaCenter for Genomic Medicine
Joanna S AmbergerJohns Hopkins University School of Medicine
Karen EilbeckUniversity of Utah
Julia ForemanWellcome Sanger Institute, European Bioinformatics Institute
Ada HamoshJohns Hopkins University School of Medicine
Daniel PerrettEuropean Bioinformatics Institute
Zornitza StarkAustralia Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Australia University of Melbourne
Heidi L RehmBroad Institute of MIT and Harvard, USA Center for Genomic Medicine, Massachusetts General Hospital
Heidi L RehmBroad Institute of MIT and Harvard, USA Center for Genomic Medicine, Massachusetts General Hospital
James S WareNational Heart & Lung Institute & MRC London Institute of Medical Sciences, Imperial College London, Broad Institute of MIT and Harvard, USA Royal Brompton & Harefield Hospitals, Guy's and St. Thomas' NHS Foundation Trust
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Datasets

Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink