Application of Whole-Exome Sequencing in Detecting Copy Number Variants in Patients with Developmental Delay and/or Multiple Congenital Malformations-Reference-Cited by-同舟云学术

Application of Whole-Exome Sequencing in Detecting Copy Number Variants in Patients with Developmental Delay and/or Multiple Congenital Malformations

Published:2020-08 Issue:8 Volume:22 Page:1041-1049
ISSN:1525-1578
Container-title:The Journal of Molecular Diagnostics
language:en
Short-container-title:The Journal of Molecular Diagnostics

Author:

Zanardo Évelin A.,Monteiro Fabíola P.,Chehimi Samar N.^ORCID,Oliveira Yanca G.,Dias Alexandre T.,Costa Larissa A.,Ramos Luiza L.^ORCID,Novo-Filho Gil M.,Montenegro Marília M.,Nascimento Amom M.^ORCID,Kitajima João P.,Kok Fernando,Kulikowski Leslie D.

Funder

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior

Publisher

Elsevier BV

Subject

Molecular Medicine,Pathology and Forensic Medicine

Reference32 articles.

1. Genomic disorders 20 years on-mechanisms for clinical manifestations;Harel;Clin Genet,2018

2. Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities;Manning;Genet Med,2010

3. Cytogenomic assessment of the diagnosis of 93 patients with developmental delay and multiple congenital abnormalities: the Brazilian experience;Zanardo;Clinics (Sao Paulo),2017

4. Diagnostic implications of excessive homozygosity detected by SNP-based microarrays: consanguinity, uniparental disomy, and recessive single-gene mutations;Kearney;Clin Lab Med,2011

5. Detection of clinically relevant copy number variants with whole-exome sequencing;De Ligt;Hum Mutat,2013

Cited by 12 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. Prenatal detection of copy number variants;Best Practice & Research Clinical Obstetrics & Gynaecology;2024-12

2. Late-Onset Slowly Progressing Cone/Macular Dystrophy in Patients With the Biallelic Hypomorphic Variant p.Arg1933Ter in RP1;Translational Vision Science & Technology;2024-08-01

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

4. The Use of CGH Arrays for Identifying Copy Number Variations in Children with Autism Spectrum Disorder;Brain Sciences;2024-03-13

5. Germline CNV Detection through Whole-Exome Sequencing (WES) Data Analysis Enhances Resolution of Rare Genetic Diseases;Genes;2023-07-21