Whole Exome Sequencing in Brazilian individuals with intellectual disability, Neurodevelopmental Delay and (or) Multiple Congenital Anomalies with Copy Number Variants of Uncertain Clinical Significance detected by Chromosomal Microarray Analysis

被引：0

作者：

Spineli-Silva, S. ^{[1
]}

de Leeuw, N. ^{[2
]}

dos Santos, A. P. ^{[1
]}

Leijsten, N. ^{[2
]}

Ruiterkamp-Versteeg, M. H. A. ^{[2
]}

Prota, J. R. M. ^{[1
]}

Maciel-Guerra, A. T. ^{[1
]}

Marques-de-Faria, A. ^{[1
]}

Steiner, C. E. ^{[1
]}

Gil-da-Silva-Lopes, V. L. ^{[1
]}

Vieira, T. P. ^{[1
]}

机构：

[1] Univ Estadual Campinas, Sch Med Sci, Dept Med Genet & Genom Med, Campinas, SP, Brazil

[2] Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, Netherlands

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2020年 / 28卷 / SUPPL 1期

基金：

巴西圣保罗研究基金会;

关键词：

D O I：

暂无

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

P11.33.C

引用

页码：463 / 463

页数：1

共 24 条

[21] Incremental Yield of Whole-Genome Sequencing Over Chromosomal Microarray Analysis and Exome Sequencing for Congenital Anomalies in Prenatal Period and Infancy: Systematic Review and Meta-analysis
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[22] Whole Exome Sequencing Is Necessary to Clarify ID/DD Cases with De Novo Copy Number Variants of Uncertain Significance: Two Proof-of-Concept Examples
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[23] Whole Exome Sequencing and Panel-Based Analysis in 176 Spanish Children with Neurodevelopmental Disorders: Focus on Autism Spectrum Disorder and/or Intellectual Disability/Global Developmental Delay
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[24] Diagnostic yield of the chromosomal microarray analysis in turkish patients with unexplained development delay/ıntellectual disability(ID), autism spectrum disorders and/or multiple congenital anomalies and new clinical findings
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