Participant-Driven Matchmaking in the Genomic Era-Reference-Cited by-同舟云学术

Participant-Driven Matchmaking in the Genomic Era

Published:2015-08-27 Issue:10 Volume:36 Page:965-973
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Lambertson Katherine F.¹,Damiani Stephen A.²³,Might Matthew⁴⁵,Shelton Robert⁶,Terry Sharon F.¹⁷

Affiliation:

1. Genetic Alliance; Washington District of Columbia

2. Mission Massimo Foundation; Inc., Elsternwick; Victoria Australia

3. Mission Massimo Foundation; Inc., Westlake Village; California

4. NGLY1.org, Salt Lake City; Utah

5. University of Utah, Salt Lake City; Utah United States

6. Private Access; Irvine California

7. PXE International, Inc; Washington District of Columbia

Funder

PCORI

Robert Wood Johnson Foundation

PXE International

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference35 articles.

1. The burden of inherited leukodystrophies in children;Bonkowsky;Neurology,2010

2. Rare-disease genetics in the era of next-generation sequencing: discovery to translation;Boycott;Nat Rev Genet,2013

3. DECIPHER: database for the interpretation of phenotype-linked plausibly pathogenic sequence and copy-number variation;Bragin;Nucleic Acids Res,2014

4. Brudno M Girdea M Dumitriu S Köhler S Robinson PN Brookes AJ Boycott K Boerkoel CF Gahl WA Canadian CARE for RARE Consortium (FORGE), NIH Undiagnosed Diseases Program 2013

Cited by 28 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. An Induced Pluripotent Stem Cell‐Derived Neuromuscular Junction Platform for Study of the NGLY1‐Congenital Disorder of Deglycosylation;Advanced Therapeutics;2022-08-19

2. Seven years since the launch of the Matchmaker Exchange: The evolution of genomic matchmaking;Human Mutation;2022-05-10

3. Broadening Participation: 21st Century Opportunities for Amateurs in Biology Research;Integrative and Comparative Biology;2021-08-24

4. Strategies to Uplift Novel Mendelian Gene Discovery for Improved Clinical Outcomes;Frontiers in Genetics;2021-06-17

5. Rare disease patient matchmaking: development and outcomes of an internet case-finding strategy in the Undiagnosed Diseases Network;Orphanet Journal of Rare Diseases;2021-05-10