Cargando…

Clinical utility of exome sequencing in individuals with large homozygous regions detected by chromosomal microarray analysis

BACKGROUND: Chromosomal microarray analysis (CMA) is recommended as the first-tier clinical diagnostic test for individuals with developmental disabilities. In addition to detecting copy number variations, CMA platforms with single nucleotide polymorphism probes can detect large homozygous regions w...

Descripción completa

Detalles Bibliográficos
Autores principales:	Prasad, Aparna, Sdano, Matthew A., Vanzo, Rena J., Mowery-Rushton, Patricia A., Serrano, Moises A., Hensel, Charles H., Wassman, E. Robert
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2018
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5859484/ https://www.ncbi.nlm.nih.gov/pubmed/29554876 http://dx.doi.org/10.1186/s12881-018-0555-3

Ejemplares similares

Clinical Performance of an Ultrahigh Resolution Chromosomal Microarray Optimized for Neurodevelopmental Disorders
por: Ho, Karen S., et al.
Publicado: (2016)

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)

Analytical and Clinical Validity Study of FirstStepDx PLUS: A Chromosomal Microarray Optimized for Patients with Neurodevelopmental Conditions
por: Hensel, Charles, et al.
Publicado: (2017)

The Temple Grandin Genome: Comprehensive Analysis in a Scientist with High-Functioning Autism
por: Vanzo, Rena J., et al.
Publicado: (2020)

Chromosomal microarray testing identifies a 4p terminal region associated with seizures in Wolf–Hirschhorn syndrome
por: Ho, Karen S, et al.
Publicado: (2016)

Critical exon indexing improves clinical interpretation of copy number variants in neurodevelopmental disorders
por: Wassman, E. Robert, et al.
Publicado: (2019)

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

Clinical Utility of a Comprehensive, Whole Genome CMA Testing Platform in Pediatrics: A Prospective Randomized Controlled Trial of Simulated Patients in Physician Practices
por: Peabody, John, et al.
Publicado: (2016)

Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseases
por: Clark, Michelle M., et al.
Publicado: (2018)

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

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

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

Chromosomal microarray and whole‐exome sequence analysis in Taiwanese patients with autism spectrum disorder
por: Chang, Ya‐Sian, et al.
Publicado: (2019)

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

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)

Clinical utility of chromosomal microarray analysis in invasive prenatal diagnosis
por: Armengol, Lluís, et al.
Publicado: (2011)

A novel homozygous mutation in SUCLA2 gene identified by exome sequencing
por: Lamperti, Costanza, et al.
Publicado: (2012)

Detection of homozygous and hemizygous complete or partial exon deletions by whole-exome sequencing
por: Bigio, Benedetta, et al.
Publicado: (2021)

NeuroSCORE is a genome-wide omics-based model that identifies candidate disease genes of the central nervous system
por: Davis, Kyle W., et al.
Publicado: (2022)

Comparative Benchmarking of Optical Genome Mapping and Chromosomal Microarray Reveals High Technological Concordance in CNV Identification and Additional Structural Variant Refinement
por: Barseghyan, Hayk, et al.
Publicado: (2023)

Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort
por: Gambin, Tomasz, et al.
Publicado: (2017)

Clinical utility of chromosomal microarray analysis in the diagnosis and management of monosomy 7 mosaicism
por: Dwivedi, Alka Chaubey nee, et al.
Publicado: (2014)

Chromosomal Microarray With Clinical Diagnostic Utility in Children With Developmental Delay or Intellectual Disability
por: Lee, Jin Sook, et al.
Publicado: (2018)

A homozygous mutation in PEX16 identified by whole-exome sequencing ending a diagnostic odyssey
por: Bacino, Carlos A., et al.
Publicado: (2015)

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)

Dealing with uncertain results from chromosomal microarray and exome sequencing in the prenatal setting: An international cross‐sectional study with healthcare professionals
por: Lewis, Celine, et al.
Publicado: (2021)

Whole-exome sequencing identified a homozygous BRDT mutation in a patient with acephalic spermatozoa
por: Li, Lin, et al.
Publicado: (2017)

Clinical utility of chromosomal microarray in establishing clonality and high risk features in patients with Richter transformation()
por: Hess, Brian, 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)

Diagnostic Yield of Exome Sequencing in Fetuses with Sonographic Features of Skeletal Dysplasias but Normal Karyotype or Chromosomal Microarray Analysis: A Systematic Review
por: Tse, Kai Yeung, et al.
Publicado: (2023)

Homozygous truncating mutation in NRAP gene identified by whole exome sequencing in a patient with dilated cardiomyopathy
por: Truszkowska, Grażyna T., et al.
Publicado: (2017)

Whole-exome sequencing identifies a homozygous pathogenic variant in TAT in a girl with palmoplantar keratoderma
por: Hannah-Shmouni, Fady, et al.
Publicado: (2019)

Chromosomal Microarray Study in Prader-Willi Syndrome
por: Butler, Merlin G., et al.
Publicado: (2023)

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

Exome sequencing discloses KALRN homozygous variant as likely cause of intellectual disability and short stature in a consanguineous pedigree
por: Makrythanasis, Periklis, et al.
Publicado: (2016)

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

Progression of Age-Related Macular Degeneration Among Individuals Homozygous for Risk Alleles on Chromosome 1 (CFH-CFHR5) or Chromosome 10 (ARMS2/HTRA1) or Both
por: Schmitz-Valckenberg, Steffen, et al.
Publicado: (2022)

Genetic Variation in an Individual Human Exome
por: Ng, Pauline C., et al.
Publicado: (2008)

Whole exome sequencing identified a homozygous novel variant in CEP290 gene causes Meckel syndrome
por: Zhang, Rui, et al.
Publicado: (2019)

Clinical Implementation of Chromosomal Microarray Analysis: Summary of 2513 Postnatal Cases
por: Lu, Xinyan, et al.
Publicado: (2007)

Cannot write session to /tmp/vufind_sessions/sess_fc3c9tinicsc5qc2a9k4sbt3gq