Cargando…

Chromosomal microarray and whole‐exome sequence analysis in Taiwanese patients with autism spectrum disorder

BACKGROUND: Autism spectrum disorder (ASD) is defined as a group of genetically and clinically heterogeneous neurodevelopmental disorders. Interplay between de novo and inherited rare variants has been suspected in the development of ASD. METHODS: Here, we applied 750K oligonucleotide microarray ana...

Descripción completa

Detalles Bibliográficos
Autores principales:	Chang, Ya‐Sian, Lin, Chien‐Yu, Huang, Hsi‐Yuan, Chang, Jan‐Gowth, Kuo, Haung‐Tsung
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2019
Materias:	Original Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6900387/ https://www.ncbi.nlm.nih.gov/pubmed/31595719 http://dx.doi.org/10.1002/mgg3.996

Ejemplares similares

Molecular characterization of colorectal cancer using whole‐exome sequencing in a Taiwanese population
por: Chang, Ya‐Sian, et al.
Publicado: (2019)

Pathway Mutations in Breast Cancer Using Whole-Exome Sequencing
por: Chang, Ya-Sian, et al.
Publicado: (2020)

Congenital dyserythropoiesis anemia type Ia with a novel CDAN1 mutation diagnosed by whole exome sequencing
por: Lin, Pei‐Chin, et al.
Publicado: (2020)

Whole genome and RNA sequencing analyses for 254 Taiwanese hepatocellular carcinomas
por: Chang, Ya-Sian, et al.
Publicado: (2023)

Whole-Exome Sequencing Identifies Genetic Variants for Severe Adolescent Idiopathic Scoliosis in a Taiwanese Population
por: Lin, Min-Rou, et al.
Publicado: (2022)

Molecular investigation, using chromosomal microarray and whole exome sequencing, of six patients affected by Williams Beuren syndrome and Autism Spectrum Disorder
por: Masson, Julie, et al.
Publicado: (2019)

Mutation Analysis of Second Primary Tumors in Oral Cancer in Taiwanese Patients through Next-Generation Sequencing
por: Liu, Ting-Yuan, et al.
Publicado: (2022)

Clinical utility of chromosomal microarray analysis and whole exome sequencing in foetuses with oligohydramnios
por: Shi, Xiaomei, et al.
Publicado: (2023)

Frequency and spectrum of actionable pathogenic secondary findings in Taiwanese exomes
por: Kuo, Chieh‐Wen, et al.
Publicado: (2020)

Whole-exome sequencing and neurite outgrowth analysis in autism spectrum disorder
por: Hashimoto, Ryota, et al.
Publicado: (2016)

Diagnostic yield of chromosomal microarray and trio whole exome sequencing in congenital brain anomalies
por: Fonova, E. A., et al.
Publicado: (2023)

Whole Genome Sequencing in the Evaluation of Fetal Structural Anomalies: A Parallel Test with Chromosomal Microarray Plus Whole Exome Sequencing
por: Zhou, Jia, et al.
Publicado: (2021)

Recent Advances in Autism Spectrum Disorders: Applications of Whole Exome Sequencing Technology
por: Sener, Elif Funda, et al.
Publicado: (2016)

Integrated analysis of whole-exome sequencing and transcriptome profiling in males with autism spectrum disorders
por: Codina-Solà, Marta, et al.
Publicado: (2015)

The Fusion Gene Landscape in Taiwanese Patients with Non-Small Cell Lung Cancer
por: Chang, Ya-Sian, et al.
Publicado: (2021)

Application of Whole Exome Sequencing and Functional Annotations to Identify Genetic Variants Associated with Marfan Syndrome
por: Lin, Min-Rou, et al.
Publicado: (2022)

Microarray and whole-exome sequencing analysis of familial Behçet’s disease patients
por: Okuzaki, Daisuke, et al.
Publicado: (2016)

Identification of Novel Gene Variants for Autism Spectrum Disorders in the Lebanese Population Using Whole-Exome Sequencing
por: Gerges, Perla, et al.
Publicado: (2022)

Combined whole exome sequencing and chromosomal microarray analysis improve clinical interpretation of genomic variants in patients with intellectual disability
por: Kashevarova, A. A., et al.
Publicado: (2023)

Sensory Overresponsivity, Loneliness, and Anxiety in Taiwanese Adults with Autism Spectrum Disorder
por: Syu, Ya-Cing, et al.
Publicado: (2018)

Prenatal genetic diagnosis of omphalocele by karyotyping, chromosomal microarray analysis and exome sequencing
por: Shi, Xiaomei, et al.
Publicado: (2021)

Whole-Exome Sequencing Identified Rare Genetic Variants Associated with Undervirilized Genitalia in Taiwanese Pediatric Patients
por: Tsai, Meng-Che, et al.
Publicado: (2023)

Genome-Wide Association Study for Autism Spectrum Disorder in Taiwanese Han Population
por: Kuo, Po-Hsiu, et al.
Publicado: (2015)

Quality of Life of Taiwanese Adults with Autism Spectrum Disorder
por: Lin, Ling-Yi
Publicado: (2014)

Platform comparison of detecting copy number variants with microarrays and whole-exome sequencing
por: de Ligt, Joep, et al.
Publicado: (2014)

Diagnostic yield and clinical impact of chromosomal microarray analysis in autism spectrum disorder
por: Cucinotta, Francesca, et al.
Publicado: (2023)

Identification of autism-related MECP2 mutations by whole-exome sequencing and functional validation
por: Wen, Zhu, et al.
Publicado: (2017)

Whole Exome Sequencing in Females with Autism Implicates Novel and Candidate Genes
por: Butler, Merlin G., et al.
Publicado: (2015)

New Candidates for Autism/Intellectual Disability Identified by Whole-Exome Sequencing
por: Bruno, Lucia Pia, et al.
Publicado: (2021)

Chromosomal Microarray Analysis of Consecutive Individuals with Autism Spectrum Disorders Using an Ultra-High Resolution Chromosomal Microarray Optimized for Neurodevelopmental Disorders
por: Ho, Karen S., et al.
Publicado: (2016)

Genomic Characterization by Whole-Exome Sequencing of Hypermobility Spectrum Disorder
por: Alanis-Funes, Gerardo J., et al.
Publicado: (2022)

Genetic Diagnostic Evaluation of Trio-Based Whole Exome Sequencing Among Children With Diagnosed or Suspected Autism Spectrum Disorder
por: Du, Xiujuan, et al.
Publicado: (2018)

Whole Exome Sequencing Identifies Novel De Novo Variants Interacting with Six Gene Networks in Autism Spectrum Disorder
por: Kim, Namshin, et al.
Publicado: (2020)

Detection of Somatic Mutations in Exome Sequencing of Tumor-only Samples
por: Hsu, Yu-Chin, et al.
Publicado: (2017)

Clinical utility of exome sequencing in individuals with large homozygous regions detected by chromosomal microarray analysis
por: Prasad, Aparna, et al.
Publicado: (2018)

Chromosomal microarray analysis supplements exome sequencing to diagnose children with suspected inborn errors of immunity
por: Beers, Breanna J., et al.
Publicado: (2023)

Chromosome Microarray Analysis and Exome Sequencing: Implementation in Prenatal Diagnosis of Fetuses with Digestive System Malformations
por: Wang, You, et al.
Publicado: (2023)

Whole exome sequencing may be insufficient to cover the causality spectrum of rhabdomyolysis
por: Finsterer, Josef, et al.
Publicado: (2018)

Benchmarking of human Y-chromosomal haplogroup classifiers with whole-genome and whole-exome sequence data
por: García-Olivares, Víctor, et al.
Publicado: (2023)

Dendritic Spine in Autism Genetics: Whole-Exome Sequencing Identifying De Novo Variant of CTTNBP2 in a Quad Family Affected by Autism Spectrum Disorder
por: Xie, Yingmei, et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_jkjnill8p8hl3r3e7i9tnvbmk7