Exome Sequencing as a Diagnostic Tool for Pediatric‐Onset Ataxia-Reference-Cited by-同舟云学术

Exome Sequencing as a Diagnostic Tool for Pediatric‐Onset Ataxia

Published:2013-11-13 Issue:1 Volume:35 Page:45-49
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Sawyer Sarah L.¹,Schwartzentruber Jeremy²,Beaulieu Chandree L.¹,Dyment David¹,Smith Amanda¹,Chardon Jodi Warman¹,Yoon Grace³,Rouleau Guy A.⁴,Suchowersky Oksana⁵,Siu Victoria⁶,Murphy Lisa⁶,Hegele Robert A.⁷,Marshall Christian R.⁸,Bulman Dennis E.¹,Majewski Jacek⁹,Tarnopolsky Mark¹⁰,Boycott Kym M.¹,

Affiliation:

1. Children's Hospital of Eastern Ontario Research Institute University of Ottawa Ottawa Ontario Canada

2. McGill University and Genome Quebec Innovation Centre Montréal Quebec Canada

3. Divisions of Neurology and Clinical and Metabolic Genetics Hospital for Sick Children University of Toronto Toronto Ontario Canada

4. Montreal Neurological Institute and Hospital McGill University Montreal Quebec Canada

5. Departments of Medicine (Neurology) and Medical Genetics University of Alberta Edmonton Alberta Canada

6. Department of Pediatrics, Division of Medical Genetics Western University London Ontario Canada

7. Robarts Research Institute University of Western Ontario London Canada

8. Program in Genetics and Genome Biology Hospital for Sick Children and McLaughlin Centre University of Toronto Toronto Ontario Canada

9. Department of Human Genetics McGill University Montréal Quebec Canada

10. Department of Pediatrics McMaster Children's Hospital Hamilton Ontario Canada

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.22451

Reference30 articles.

1. A method and server for predicting damaging missense mutations

2. Exome sequencing as a tool for Mendelian disease gene discovery

3. Mutations inSYNGAP1Cause Intellectual Disability, Autism, and a Specific Form of Epilepsy by Inducing Haploinsufficiency

4. Whole exome and whole genome sequencing

5. Rare-disease genetics in the era of next-generation sequencing: discovery to translation

Cited by 84 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. Evaluating whole genome sequencing for rare diseases in newborn screening: evidence synthesis from a series of systematic reviews;2024-09-04

2. Ring finger protein 216 loss‐of‐function induces white matter hyperintensities by inhibiting oligodendroglia proliferation;Cell Biochemistry and Function;2024-06

3. Genetic aspects of ataxias in a cohort of Turkish patients;Neurological Sciences;2024-04-08

5. Diagnostic Yield of NGS Tests for Hereditary Ataxia: a Systematic Review;The Cerebellum;2023-11-11