Genome-wide CNV analysis uncovers novel pathogenic regions in cohort of five multiplex families with neurodevelopmental disorders-Reference-Cited by-同舟云学术

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Genome-wide CNV analysis uncovers novel pathogenic regions in cohort of five multiplex families with neurodevelopmental disorders

Published:2023-09 Issue:9 Volume:9 Page:e19718
ISSN:2405-8440
Container-title:Heliyon
language:en
Short-container-title:Heliyon

Author:

Mudassir Behjat Ul^ORCID,Alotaibi Mashael Alhumaidi,Kizilbash Nadeem,Alruwaili Daliyah,Alruwaili Anwar,Alenezi Modhi,Agha Zehra^ORCID

Publisher

Elsevier BV

Subject

Multidisciplinary

Reference44 articles.

1. A large data resource of genomic copy number variation across neurodevelopmental disorders;Zarrei;npj Genom. Med.,2019

2. Frequent copy number variants in a cohort of Mexican-Mestizo individuals;Sánchez;Mol. Cytogenet.,2023

3. Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen);Riggs;Genet. Med.,2020

4. CNV biology in neurodevelopmental disorders;Takumi;Curr. Opin. Neurobiol.,2018

5. dbCNV: deleteriousness-based model to predict pathogenicity of copy number variations;Lv;BMC Genom.,2023

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1. Assessing the necessity of screening ≤5 Mb segmental aneuploidy in routine PGT for aneuploidies;Reproductive BioMedicine Online;2024-09

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