Exome sequencing identifies pathogenic variants of VPS13B in a patient with familial 16p11.2 duplication-Reference-Cited by-同舟云学术

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Exome sequencing identifies pathogenic variants of VPS13B in a patient with familial 16p11.2 duplication

Published:2016-11-10 Issue:1 Volume:17 Page:
ISSN:1471-2350
Container-title:BMC Medical Genetics
language:en
Short-container-title:BMC Med Genet

Author:

Dastan Jila,Chijiwa Chieko,Tang Flamingo,Martell Sally,Qiao Ying,Rajcan-Separovic Evica,Lewis M. E. Suzanne

Funder

Canadian Institutes for Health Research

BC Children’s Hospital Foundation

BC Child and Family Research Institute

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1186/s12881-016-0340-0.pdf

Reference27 articles.

1. Weiss LA, Shen Y, Korn JM, et al. Association between microdeletion and microduplication at 16p11.2 and autism. N Engl J Med. 2008;358(7):667–75.

2. Rosenfeld JA, Coe BP, Eichler EE, et al. Estimates of penetrance for recurrent pathogenic copy-number variations. Genet Med. 2013;15(6):478–81.

3. Bijlsma EK, Gijsbers AC, Schuurs-Hoeijmakers JH, et al. Extending the phenotype of recurrent rearrangements of 16p11.2: deletions in mentally retarded patients without autism and in normal individuals. Eur J Med Genet. 2009;52(2-3):77–87.

4. Shinawi M, Liu P, Kang SH, et al. Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size. J Med Genet. 2010;47(5):332–41.

5. Marshall CR, Noor A, Vincent JB, et al. Structural variation of chromosomes in autism spectrum disorder. Am J Hum Genet. 2008;82(2):477–88.

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1. What Can Really Be Considered a Syndrome? An Insight Based on 16p11.2 Microduplication;Cell Biochemistry and Function;2024-09-12

2. Prenatal diagnosis of fetuses with 15q11.2 BP1-BP2 microdeletion in the Chinese population: a seven-year single-center retrospective study;Molecular Cytogenetics;2024-09-02

3. 16p11.2 Microduplication Syndrome with Increased Fluid in the Cisterna: Coincidence or Phenotype Extension?;Genes;2023-08-03

4. Case Report: Prenatal Whole-Exome Sequencing Identified a Novel Nonsense Mutation of the KCNH2 Gene in a Fetus With Familial 2q14.2 Duplication;Frontiers in Genetics;2022-07-05

5. Cohen syndrome due to a novel VPS13B mutation in a Chinese family;Journal of Neurorestoratology;2022-06

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