Paper Details

Paper Title

Missense variants in TAF1 and developmental phenotypes: challenges of determining pathogenicity.

Paper Journal Title

Hum Mutat

Paper Citation Count

Paper Publication Year

2019

Bio Mention

Mesh Descriptor

Author Name	Affiliation
Chunhua Weng	Columbia University Medical Center
Jennifer E Posey	Baylor College of Medicine
Gareth Baynam
Gareth Baynam	University of Western Australia
Gareth Baynam	Telethon Kids Institute
Gareth Baynam	Institute for Immunology and Infectious Diseases, Murdoch University
Gareth Baynam
Gareth Baynam
Gareth Baynam
Gareth Baynam	Institute for Immunology and Infectious Diseases, Murdoch University
Gareth Baynam	Telethon Kids Institute
Gareth Baynam	University of Western Australia
Zornitza Stark	Victorian Clinical Genetics Services, Murdoch Children's Research Institute
Zornitza Stark	University of Melbourne
Zornitza Stark
Shehla Mohammed	Clinical Genetics, Guy's Hospital
Ganka Douglas
James R Lupski	Baylor College of Medicine
James R Lupski	Texas Children's Hospital
James R Lupski	Baylor College of Medicine
James R Lupski	Baylor College of Medicine
James R Lupski	Baylor College of Medicine
James R Lupski	Baylor College of Medicine
James R Lupski	Baylor College of Medicine
James R Lupski	Texas Children's Hospital
Tony Roscioli	Centre for Clinical Genetics, Sydney Children's Hospital
Tony Roscioli	Prince of Wales Hospital
Tony Roscioli	University of New South Wales
Pankaj B Agrawal	Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School
Kai Wang	Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia
Kai Wang	University of Pennsylvania Perelman School of Medicine
Kai Wang	Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia
Kai Wang	University of Pennsylvania Perelman School of Medicine
Gholson J Lyon	Institute for Basic Research in Developmental Disabilities (IBR)
Gholson J Lyon	Stanley Institute for Cognitive Genomics
Gholson J Lyon	The City University of New York

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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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