Unbiased phenotype and genotype matching maximizes gene discovery and diagnostic yield-Reference-Cited by-同舟云学术

Unbiased phenotype and genotype matching maximizes gene discovery and diagnostic yield

Published:2024-04 Issue:4 Volume:26 Page:101068
ISSN:1098-3600
Container-title:Genetics in Medicine
language:en
Short-container-title:Genetics in Medicine

Author:

Rips Jonathan,Halstuk Orli,Fuchs Adina,Lang Ziv,Sido Tal,Gershon-Naamat Shiri,Abu-Libdeh Bassam,Edvardson Simon,Salah Somaya,Breuer Oded,Hadhud Mohamad,Eden Sharon,Simon Itamar,Slae Mordechai,Damseh Nadirah S.,Abu-Libdeh Abdulsalam,Eskin-Schwartz Marina,Birk Ohad S.,Varga Julia,Schueler-Furman Ora,Rosenbluh Chaggai,Elpeleg Orly,Yanovsky-Dagan Shira,Mor-Shaked Hagar,Harel Tamar^ORCID

Publisher

Elsevier BV

Reference70 articles.

1. Centers for Mendelian Genomics: a decade of facilitating gene discovery;Baxter;Genet Med,2022

2. Care4Rare Canada: outcomes from a decade of network science for rare disease gene discovery;Boycott;Am J Hum Genet,2022

3. What has the undiagnosed diseases network taught us about the clinical applications of genomic testing?;Murdock;Annu Rev Med,2022

4. Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases;Zurek;Eur J Hum Genet,2021

5. Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data;Wright;Lancet,2015

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