Breakpoint junction analysis for complex genomic rearrangements with the caldera volcano‐like pattern-Reference-Cited by-同舟云学术

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Breakpoint junction analysis for complex genomic rearrangements with the caldera volcano‐like pattern

Published:2020-09-19 Issue:12 Volume:41 Page:2119-2127
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Yanagishita Tomoe¹²,Imaizumi Taichi²³,Yamamoto‐Shimojima Keiko²,Yano Tamami⁴,Okamoto Nobuhiko⁵^ORCID,Nagata Satoru¹,Yamamoto Toshiyuki¹²³⁶^ORCID

Affiliation:

1. Department of Pediatrics Tokyo Women's Medical University Tokyo Japan

2. Department of Genomic Medicine Tokyo Women's Medical University Tokyo Japan

3. Department of Pediatrics St. Marianna University School of Medicine Kawasaki Japan

4. Department of Pediatrics Akita University Akita Japan

5. Department of Medical Genetics Osaka Women's and Children's Hospital Osaka Japan

6. Institute for Integrated Medical Sciences Tokyo Women's Medical University Tokyo Japan

Funder

Japan Agency for Medical Research and Development

Ministry of Health

Japan Society for the Promotion of Science

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24108

Reference44 articles.

1. De novo chromosome 7q36.1q36.2 triplication in a child with developmental delay, growth failure, distinctive facial features, and multiple congenital anomalies: a case report

2. Intragenic ILRAPL1 deletion in a male patient with intellectual disability, mild dysmorphic signs, deafness, and behavioral problems

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

4. 625 kb microduplication at Xp22.12 including RPS6KA3 in a child with mild intellectual disability

5. A triplication of the Williams-Beuren syndrome region in a patient with mental retardation, a severe expressive language delay, behavioural problems and dysmorphisms

Cited by 2 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. Identification of small-sized intrachromosomal segments at the ends of INV–DUP–DEL patterns;Journal of Human Genetics;2023-07-10

2. Genomic Aberrations Associated with the Pathophysiological Mechanisms of Neurodevelopmental Disorders;Cells;2021-09-04

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