Long‐read genome sequencing resolves a complex 13q structural variant associated with syndromic anophthalmia-Reference-Cited by-同舟云学术

Long‐read genome sequencing resolves a complex 13q structural variant associated with syndromic anophthalmia

Published:2022-02-05 Issue:5 Volume:188 Page:1589-1594
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:American J of Med Genetics Pt A

Author:

Boerkoel Pierre K.¹^ORCID,Dixon Katherine²³,Fitzsimons Carrie⁴,Shen Yaoqing³,Huynh Stephanie⁵,Schlade‐Bartusiak Kamilla⁶,Culibrk Luka³,Chan Simon³,Boerkoel Cornelius F.²⁵^ORCID,Jones Steven J. M.²³,Chin Hui‐Lin⁵⁷^ORCID

Affiliation:

1. MD Undergraduate Program University of British Columbia Vancouver British Columbia Canada

2. Department of Medical Genetics University of British Columbia Vancouver British Columbia Canada

3. Canada's Michael Smith Genome Sciences Centre, BC Cancer Vancouver British Columbia Canada

4. Kooteney Lake Hospital Nelson British Columbia Canada

5. Provincial Medical Genetics Program Women's Hospital of British Columbia Vancouver British Columbia Canada

6. Department of Pathology BC Children's Hospital, BC Women's Hospital & Health Centre Vancouver British Columbia Canada

7. Khoo Teck Puat‐National University Children's Medical Institute National University Hospital Singapore Singapore

Funder

Wellcome Trust

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62676

Reference24 articles.

1. Complex Genomic Rearrangements at the PLP1 Locus Include Triplication and Quadruplication

2. Development of Extraocular Muscles Requires Early Signals From Periocular Neural Crest and the Developing Eye

3. Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome

4. Epidemiology of anophthalmia and microphthalmia: Prevalence and patterns in Texas, 1999–2009

5. Large-scale discovery of novel genetic causes of developmental disorders

Cited by 4 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. A unifying model that explains the origins of human inverted copy number variants;PLOS Genetics;2024-01-04

2. A unifying model that explains the origins of human inverted copy number variants;2023-09-22

3. Applications of long-read sequencing to Mendelian genetics;Genome Medicine;2023-06-14

4. Prenatal diagnosis of distal 13q deletion syndrome in a fetus with esophageal atresia: a case report and review of the literature;Journal of Medical Case Reports;2022-12-27