Paper Details

Paper Title

IMPROVE-DD: Integrating multiple phenotype resources optimizes variant evaluation in genetically determined developmental disorders.

Paper Journal Title

HGG Adv

Paper Citation Count

Paper Publication Year

2022

Bio Mention

77 genes, DD, Developmental Disorders, HPO, Human, candidate gene, developmental disorders, genes

Mesh Descriptor

Author Name	Affiliation
Stuart Aitken	Institute of Genetics and Cancer, University of Edinburgh
Helen V Firth	Wellcome Sanger Institute
Helen V Firth	Clinical Genetics Department, Addenbrooke's Hospital Cambridge University Hospitals
Caroline F Wright	University of Exeter Medical School, Royal Devon & Exeter Hospital
Matthew E Hurles	Wellcome Sanger Institute
Matthew E Hurles	Wellcome Sanger Institute
David R FitzPatrick	Institute of Genetics and Cancer, University of Edinburgh
Colin A Semple	Institute of Genetics and Cancer, University of Edinburgh
Colin A Semple	Institute of Genetics and Cancer, University of Edinburgh

Dataset	Description	Source Link
Human Phenotype Ontology	Standardized vocabulary of phenotypic abnormalities in human disease	Link
Human Phenotype Ontology	Standardized vocabulary of phenotypic abnormalities in human disease	Link
Human Phenotype Ontology	Standardized vocabulary of phenotypic abnormalities in human disease	Link
Human Phenotype Ontology	Standardized vocabulary of phenotypic abnormalities in human disease	Link
Human Phenotype Ontology	Standardized vocabulary of phenotypic abnormalities in human disease	Link
Human Phenotype Ontology	Standardized vocabulary of phenotypic abnormalities in human disease	Link
Human Phenotype Ontology	Standardized vocabulary of phenotypic abnormalities in human disease	Link
Human Phenotype Ontology	Standardized vocabulary of phenotypic abnormalities in human disease	Link
Human Phenotype Ontology	Standardized vocabulary of phenotypic abnormalities in human disease	Link
Human Phenotype Ontology	Standardized vocabulary of phenotypic abnormalities in human disease	Link
Human Phenotype Ontology	Standardized vocabulary of phenotypic abnormalities in human disease	Link
Human Phenotype Ontology	Standardized vocabulary of phenotypic abnormalities in human disease	Link
Human Phenotype Ontology	Standardized vocabulary of phenotypic abnormalities in human disease	Link
Human Phenotype Ontology	Standardized vocabulary of phenotypic abnormalities in human disease	Link
Human Phenotype Ontology	Standardized vocabulary of phenotypic abnormalities in human disease	Link

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