PhenomeCentral: A Portal for Phenotypic and Genotypic Matchmaking of Patients with Rare Genetic Diseases-Reference-Cited by-同舟云学术

PhenomeCentral: A Portal for Phenotypic and Genotypic Matchmaking of Patients with Rare Genetic Diseases

Published:2015-08-31 Issue:10 Volume:36 Page:931-940
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Buske Orion J.¹²³,Girdea Marta¹²³,Dumitriu Sergiu³,Gallinger Bailey³⁴,Hartley Taila⁵,Trang Heather³⁴,Misyura Andriy³,Friedman Tal¹,Beaulieu Chandree⁵,Bone William P.⁶,Links Amanda E.⁶,Washington Nicole L.⁷,Haendel Melissa A.⁸,Robinson Peter N.⁹,Boerkoel Cornelius F.⁶,Adams David⁶,Gahl William A.⁶,Boycott Kym M.⁵,Brudno Michael¹²³

Affiliation:

1. Department of Computer Science; University of Toronto; Toronto Canada

2. Genetics and Genome Biology Program; The Hospital for Sick Children; Toronto Canada

3. Centre for Computational Medicine; The Hospital for Sick Children; Toronto Canada

4. Division of Clinical and Metabolic Genetics; The Hospital for Sick Children; Toronto Ontario Canada

5. Children's Hospital of Eastern Ontario Research Institute; Ottawa Ontario Canada

6. Undiagnosed Diseases Program; Common Fund; Office of the Director; National Institutes of Health; Bethesda Maryland

7. Genomics Division; Lawrence Berkeley National Laboratory; Berkeley California

8. Department of Medical Informatics and Clinical Epidemiology; Oregon Health & Science University; Portland Oregon

9. Institute for Medical Genetics and Human Genetics; Charité-Universitätsmedizin Berlin; Berlin Germany

Funder

Canadian Institutes of Health Research

Ontario Genomics Institute

Hospital for Sick Children

Natural Sciences and Engineering Research Council of Canada

Children’s Hospital of Eastern Ontario Foundation

Genome Canada

Genome Quebec

NSERC/CIHR Collaborative Health Research Project

Ontario Research Fund

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference31 articles.

1. OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders;Amberger;Nucleic Acids Res,2015

2. Gene ontology: tool for the unification of biology;Ashburner;Nat Genet,2000

3. Bayesian ontology querying for accurate and noise-tolerant semantic searches;Bauer;Bioinformatics,2012

4. Forge Canada Consortium: outcomes of a 2-year national rare-disease gene-discovery project;Beaulieu;Am J Hum Genet,2014

5. Bone WP Washington NL Buske OJ Adams DR Davis J Draper D Flynn ED Girdea M Godfrey R Golas G Groden C Jacobsen J

Cited by 106 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. PICOTEES: a privacy-preserving online service of phenotype exploration for genetic-diagnostic variants from Chinese children cohorts;Journal of Genetics and Genomics;2023-09

2. Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients withZNF148mutations;Journal of Medical Genetics;2023-08-14

3. Resources and tools for rare disease variant interpretation;Frontiers in Molecular Biosciences;2023-05-10

4. Targeted Sequencing Approach and Its Clinical Applications for the Molecular Diagnosis of Human Diseases;Cells;2023-02-02

5. Bi-allelic variants in NAE1 cause intellectual disability, ischiopubic hypoplasia, stress-mediated lymphopenia and neurodegeneration;The American Journal of Human Genetics;2023-01