Genomic Copy Number Variations in the Autism Clinic—Work in Progress

Genomic Copy Number Variations in the Autism Clinic—Work in Progress

The development of advanced technology for microarray-based chromosomal studies helped discover increased prevalence of genomic copy number variants (CNVs) in individuals with autism spectrum disorder (ASD). Chromosomal microarray analysis (CMA) is now an important tool for clinical investigations i...

Full description

Bibliographic Details
Main Author:	Milen Velinov
Format:	Article
Language:	English
Published:	Frontiers Media S.A. 2019-02-01
Series:	Frontiers in Cellular Neuroscience
Subjects:	CNV (copy number variant) autism spectrum disorder clinical evaluation genomic medicine genetic counseling
Online Access:	https://www.frontiersin.org/article/10.3389/fncel.2019.00057/full

Similar Items

Copy Number Variation: Methods and Clinical Applications
by: Ondrej Pös, et al.
Published: (2021-01-01)

Copy number variation and autism: New insights and clinical implications
by: Brian Hon-Yin Chung, et al.
Published: (2014-07-01)

Copy Number Variants in Four Italian Turkey Breeds
by: Maria Giuseppina Strillacci, et al.
Published: (2021-02-01)

DNA copy number variation: Main characteristics, evolutionary significance, and pathological aspects
by: Ondrej Pös, et al.
Published: (2021-10-01)

The Use of CGH Arrays for Identifying Copy Number Variations in Children with Autism Spectrum Disorder
by: Agata Kucińska, et al.
Published: (2024-03-01)

Performance of copy number variants detection based on whole-genome sequencing by DNBSEQ platforms
by: Junhua Rao, et al.
Published: (2020-11-01)

Genome-wide copy number variations in a large cohort of bantu African children
by: Feyza Yilmaz, et al.
Published: (2021-05-01)

A survey of analysis software for array-comparative genomic hybridisation studies to detect copy number variation
by: Karimpour-Fard Anis, et al.
Published: (2010-08-01)

isoCNV: in silico optimization of copy number variant detection from targeted or exome sequencing data
by: Rosa Barcelona-Cabeza, et al.
Published: (2021-10-01)

Editorial: Copy Number Variation in Rare Disorders
by: Katalin Komlósi, et al.
Published: (2022-04-01)

A novel scatterplot-based method to detect copy number variation (CNV)
by: Jia-Lu Qiao, et al.
Published: (2023-07-01)

Copy number variations (CNVs) and karyotyping analysis in males with azoospermia and oligospermia
by: Xing Xin, et al.
Published: (2023-09-01)

CNV-Z; a new tool for detecting copy number variation in next generation sequencing data
by: Emma Adolfsson, et al.
Published: (2023-12-01)

Identification of Copy Number Variants in a Southern Chinese Cohort of Patients with Congenital Scoliosis
by: Wenjing Lai, et al.
Published: (2021-08-01)

A Potential Method to Help Predict Genetic Diseases and Arrange Healthcare: Copy Number Variation Analysis
by: Munis Dündar, et al.
Published: (2019-11-01)

Genome-Wide Assessment Characteristics of Genes Overlapping Copy Number Variation Regions in Duroc Purebred Population
by: Zhipeng Wang, et al.
Published: (2021-10-01)

Genome-wide analysis of copy number variants and normal facial variation in a large cohort of Bantu Africans
by: Megan Null, et al.
Published: (2022-01-01)

Genome-wide copy number variations in Bhutia equine breed using SNP genotyping data
by: NITESH KUMAR SHARMA, et al.
Published: (2023-08-01)

Total copy number variation as a prognostic factor in adult astrocytoma subtypes
by: Kanish Mirchia, et al.
Published: (2019-06-01)

A Rapid PCR-Free Next-Generation Sequencing Method for the Detection of Copy Number Variations in Prenatal Samples
by: Xiya Zhou, et al.
Published: (2021-01-01)

Population differentiated copy number variation of Bos taurus, Bos indicus and their African hybrids
by: Jisung Jang, et al.
Published: (2021-07-01)

Influence of validating the parental origin on the clinical interpretation of fetal copy number variations in 141 core family cases
by: Panlai Shi, et al.
Published: (2019-10-01)

Establishing a prognostic threshold for total copy number variation within adult IDH-mutant grade II/III astrocytomas
by: Kanish Mirchia, et al.
Published: (2019-07-01)

Genome-wide copy number variation detection in a large cohort of diverse horse breeds by whole-genome sequencing
by: Xiangwei Tang, et al.
Published: (2023-11-01)

Nexus between genome-wide copy number variations and autism spectrum disorder in Northeast Han Chinese population
by: Shuang Qiu, et al.
Published: (2023-02-01)

JAX-CNV: A Whole-genome Sequencing-based Algorithm for Copy Number Detection at Clinical Grade Level
by: Wan-Ping Lee, et al.
Published: (2022-12-01)

Reference on copy number variations in pleomorphic xanthoastrocytoma: Implications for diagnostic approach
by: David E. Reuss, et al.
Published: (2023-11-01)

Analysis of Genomic Copy Number Variation in Miscarriages During Early and Middle Pregnancy
by: Heming Wu, et al.
Published: (2021-09-01)

Analysis of copy number variations and possible candidate genes in spontaneous abortion by copy number variation sequencing
by: Wei Bai, et al.
Published: (2023-10-01)

Analysis of genomic copy number variations through whole-genome scan in Chinese Qaidam cattle
by: Yangkai Liu, et al.
Published: (2023-03-01)

Fine mapping of copy number variations on two cattle genome assemblies using high density SNP array
by: Hou Yali, et al.
Published: (2012-08-01)

Molecular Dysregulation in Autism Spectrum Disorder
by: Pritmohinder S. Gill, et al.
Published: (2021-08-01)

Copy Number Variation Analysis in the Context of Electronic Medical Records & Large-Scale Genomics Consortium Efforts
by: John J Connolly, et al.
Published: (2014-03-01)

A Comparison of Tools for Copy-Number Variation Detection in Germline Whole Exome and Whole Genome Sequencing Data
by: Migle Gabrielaite, et al.
Published: (2021-12-01)

Copy Number Variations in Neuropsychiatric Disorders
by: Gergely Büki, et al.
Published: (2023-09-01)

CNV-P: a machine-learning framework for predicting high confident copy number variations
by: Taifu Wang, et al.
Published: (2021-12-01)

Variation of DNA copies number in etiology of congenital heart defects
by: A. A. Slepukhina, et al.
Published: (2018-11-01)

Copy number variation and regions of homozygosity analysis in patients with MÜLLERIAN aplasia
by: Durkadin Demir Eksi, et al.
Published: (2018-02-01)

Comprehensive performance comparison of high-resolution array platforms for genome-wide Copy Number Variation (CNV) analysis in humans
by: Rajini R. Haraksingh, et al.
Published: (2017-04-01)

SNP microarray analyses reveal copy number alterations and progressive genome reorganization during tumor development in SVT/t driven mice breast cancer
by: Standfuß Christoph, et al.
Published: (2012-08-01)