Copy Number Variation Sequencing for Comprehensive Diagnosis of Chromosome Disease Syndromes-Reference-Cited by-同舟云学术

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Copy Number Variation Sequencing for Comprehensive Diagnosis of Chromosome Disease Syndromes

Published:2014-09 Issue:5 Volume:16 Page:519-526
ISSN:1525-1578
Container-title:The Journal of Molecular Diagnostics
language:en
Short-container-title:The Journal of Molecular Diagnostics

Author:

Liang Desheng,Peng Ying,Lv Weigang,Deng Linbei,Zhang Yanghui,Li Haoxian,Yang Pu,Zhang Jianguang,Song Zhuo,Xu Genming,Cram David S.,Wu Lingqian

Funder

National Key Basic Research Program of China

National Key Technology R&D Program of China

Publisher

Elsevier BV

Subject

Molecular Medicine,Pathology and Forensic Medicine

Reference42 articles.

1. Chromosome Abnormalities and Genetic Counselling,2011

2. Prenatal chromosomal microarray analysis in a diagnostic laboratory: experience with >1000 cases and review of the literature;Breman;Prenat Diagn,2012

3. Use of array CGH in the evaluation of dysmorphology, malformations, developmental delay, and idiopathic mental retardation;Stankiewicz;Curr Opin Genet Dev,2007

4. Human aneuploidy: mechanisms and new insights into an age-old problem;Nagaoka;Nat Rev Genet,2012

5. The human cleavage stage embryo is a cradle of chromosomal rearrangements;Voet;Cytogenet Genome Res,2011

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1. High positive predictive value of CNVs detected by clinical exome sequencing in suspected genetic diseases;Journal of Translational Medicine;2024-07-09

2. Pathogenic relationship between phenotypes of ARPKD and novel compound heterozygous mutations of PKHD1;Frontiers in Genetics;2024-07-02

3. The cryptic complex rearrangements involving the DMD gene causing completely opposite manifestations: etiologic clues revealed by optical genome mapping;2024-06-12

4. Correlation between maternal serum biomarkers and the risk of fetal chromosome copy number variants: a single-center retrospective study;Archives of Gynecology and Obstetrics;2024-05-30

5. Analysis of copy number variants detected by sequencing in spontaneous abortion;Molecular Cytogenetics;2024-05-20

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