Paper Details

Paper Title

PhenomeCentral: a portal for phenotypic and genotypic matchmaking of patients with rare genetic diseases.

Paper Journal Title

Hum Mutat

Paper Citation Count

Paper Publication Year

2015

Bio Mention

Undiagnosed Diseases, candidate genes, exome, patient, patients, rare, rare genetic diseases

Mesh Descriptor

Databases, Genetic, Genetic Predisposition to Disease, Genetic Variation, Genotype, Humans, Information Dissemination, Phenotype, Rare Diseases, Software, User-Computer Interface, Web Browser

Author Name	Affiliation
Orion J Buske	University of Toronto
Orion J Buske	The Hospital for Sick Children
Orion J Buske	The Hospital for Sick Children
Orion J Buske	University of Toronto
Orion J Buske	The Hospital for Sick Children
Orion J Buske	The Hospital for Sick Children
Marta Girdea	University of Toronto
Marta Girdea	The Hospital for Sick Children
Marta Girdea	The Hospital for Sick Children
Sergiu Dumitriu	The Hospital for Sick Children
Bailey Gallinger	The Hospital for Sick Children
Bailey Gallinger	Division of Clinical and Metabolic Genetics, The Hospital for Sick Children
Taila Hartley	Children's Hospital of Eastern Ontario Research Institute
Heather Trang	The Hospital for Sick Children
Heather Trang	Division of Clinical and Metabolic Genetics, The Hospital for Sick Children
Andriy Misyura	The Hospital for Sick Children
Tal Friedman	University of Toronto
Chandree L Beaulieu	Children's Hospital of Eastern Ontario Research Institute
William P Bone	National Institutes of Health
Amanda E Links	National Institutes of Health
Nicole L Washington	Lawrence Berkeley National Laboratory
Nicole L Washington	Lawrence Berkeley National Laboratory
Melissa A Haendel	Department of Medical Informatics and Clinical Epidemiology, Oregon Health & Science University
Melissa A Haendel	Department of Medical Informatics and Clinical Epidemiology, Oregon Health & Science University
Peter N Robinson	Institute for Medical Genetics and Human Genetics, Charite-Universitatsmedizin Berlin
Peter N Robinson	Institute for Medical Genetics and Human Genetics, Charite-Universitatsmedizin Berlin
Cornelius F Boerkoel	National Institutes of Health
Cornelius F Boerkoel	National Institutes of Health
David R Adams	National Institutes of Health
David R Adams	National Institutes of Health
William A Gahl	National Institutes of Health
William A Gahl	National Institutes of Health
Kym M Boycott	Children's Hospital of Eastern Ontario Research Institute
Michael Brudno	University of Toronto
Michael Brudno	The Hospital for Sick Children
Michael Brudno	The Hospital for Sick Children

1 - 36

Paper Details

Column Actions

Datasets