Ending a diagnostic odyssey: Moving from exome to genome to identify cockayne syndrome-Reference-Cited by-同舟云学术

Ending a diagnostic odyssey: Moving from exome to genome to identify cockayne syndrome

Published:2021-06-02 Issue:7 Volume:9 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Friedman Jennifer¹²³⁴^ORCID,Bird Lynne M.²⁵,Haas Richard¹²³,Robbins Shira L.⁶,Nahas Shareef A.⁴,Dimmock David P.⁴,Yousefzadeh Matthew J.⁷,Witt Mariah A.⁷,Niedernhofer Laura J.⁷,Chowdhury Shimul⁴

Affiliation:

1. Department of Neurosciences University of California San Diego San Diego CA USA

2. Department of Pediatrics University of California San Diego San Diego CA USA

3. Division of Neurology Rady Children’s Hospital San Diego CA USA

4. Rady Children’s Institute for Genomic Medicine San Diego CA USA

5. Division of Genetics/Dysmorphology Rady Children’s Hospital San Diego San Diego CA USA

6. Viterbi Family Department of Ophthalmology at the Shiley Eye Institute University of California San Diego La Jolla CA USA

7. Institute on the Biology of Aging and Metabolism Department of Biochemistry, Molecular Biology and Biophysics University of Minnesota Minneapolis MN USA

Funder

National Institute of Environmental Health Sciences

Research to Prevent Blindness

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1623

Reference22 articles.

1. Novel Factor XIII variant identified through whole‐genome sequencing in a child with intracranial hemorrhage;Briggs B.;Cold Spring Harbor Molecular Case Studies,2018

2. Functional and clinical relevance of novel mutations in a large cohort of patients with Cockayne syndrome

3. Identical mutations in the CSB gene associated with either Cockayne syndrome or the DeSanctis-Cacchione variant of xeroderma pigmentosum

4. Rapid whole-genome sequencing decreases infant morbidity and cost of hospitalization

5. Molecular Mechanisms of Mammalian Global Genome Nucleotide Excision Repair

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1. Siblings with Cockayne Syndrome B Type III Presenting with Slowly Progressive Cerebellar Ataxia;Internal Medicine;2023-08-01

2. Human Variation in DNA Repair, Immune Function, and Cancer Risk;Frontiers in Immunology;2022-07-22

3. A matter of delicate balance: Loss and gain of Cockayne syndrome proteins in premature aging and cancer;Frontiers in Aging;2022-07-21