Clinical relevance of small copy-number variants in chromosomal microarray clinical testing
Published 2016 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
Clinical relevance of small copy-number variants in chromosomal microarray clinical testing
Authors
Keywords
-
Journal
GENETICS IN MEDICINE
Volume 19, Issue 4, Pages 377-385
Publisher
Springer Nature
Online
2016-09-15
DOI
10.1038/gim.2016.132
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- The association of GPR85 with PSD-95-neuroligin complex and autism spectrum disorder: a molecular analysis
- (2015) Eriko Fujita-Jimbo et al. Molecular Autism
- Mosaic deletion ofEXOC6B: Further evidence for an important role of the exocyst complex in the pathogenesis of intellectual disability
- (2014) Christina Evers et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Microdeletion of 1p32-p31 involving NFIA in a patient with hypoplastic corpus callosum, ventriculomegaly, seizures and urinary tract defects
- (2014) Jianling Ji et al. European Journal of Medical Genetics
- An intragenic deletion of the NFIA gene in a patient with a hypoplastic corpus callosum, craniofacial abnormalities and urinary tract defects
- (2014) Anupam Rao et al. European Journal of Medical Genetics
- The clinical significance of small copy number variants in neurodevelopmental disorders
- (2014) Reza Asadollahi et al. JOURNAL OF MEDICAL GENETICS
- Identification of Critical Regions and Candidate Genes for Cardiovascular Malformations and Cardiomyopathy Associated with Deletions of Chromosome 1p36
- (2014) Hitisha P. Zaveri et al. PLoS One
- Identification of Small Exonic CNV from Whole-Exome Sequence Data and Application to Autism Spectrum Disorder
- (2013) Christopher S. Poultney et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Refinement and Discovery of New Hotspots of Copy-Number Variation Associated with Autism Spectrum Disorder
- (2013) Santhosh Girirajan et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Deletions within COL11A1in Type 2 stickler syndrome detected by multiplex ligation-dependent probe amplification (MLPA)
- (2013) Raymon Vijzelaar et al. BMC Medical Genetics
- Disruption of EXOC6B in a patient with developmental delay, epilepsy, and a de novo balanced t(2;8) translocation
- (2013) Anne Frühmesser et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders
- (2013) Lam S. Nguyen et al. HUMAN MOLECULAR GENETICS
- Clinical Significance of De Novo and Inherited Copy-Number Variation
- (2013) Anneke T. Vulto-van Silfhout et al. HUMAN MUTATION
- Cadherins and neuropsychiatric disorders
- (2012) Christoph Redies et al. BRAIN RESEARCH
- Exon-level array CGH in a large clinical cohort demonstrates increased sensitivity of diagnostic testing for Mendelian disorders
- (2012) Swaroop Aradhya et al. GENETICS IN MEDICINE
- Synaptic scaffold evolution generated components of vertebrate cognitive complexity
- (2012) Jess Nithianantharajah et al. NATURE NEUROSCIENCE
- Rare Deletions at the Neurexin 3 Locus in Autism Spectrum Disorder
- (2011) Andrea K. Vaags et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Chromosomal loss of 3q26.3-3q26.32, involving a partial neuroligin 1 deletion, identified by genomic microarray in a child with microcephaly, seizure disorder, and severe intellectual disability
- (2011) Alison Millson et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Clinically relevant single gene or intragenic deletions encompassing critical neurodevelopmental genes in patients with developmental delay, mental retardation, and/or autism spectrum disorders
- (2011) Fady M. Mikhail et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Towards an evidence-based process for the clinical interpretation of copy number variation
- (2011) ER Riggs et al. CLINICAL GENETICS
- Interpretation of Array Comparative Genome Hybridization Data: A Major Challenge
- (2011) A.C.J. Gijsbers et al. CYTOGENETIC AND GENOME RESEARCH
- American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants
- (2011) Hutton M Kearney et al. GENETICS IN MEDICINE
- An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities
- (2011) Erin B. Kaminsky et al. GENETICS IN MEDICINE
- Genome-wide copy number variation study associates metabotropic glutamate receptor gene networks with attention deficit hyperactivity disorder
- (2011) Josephine Elia et al. NATURE GENETICS
- Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies
- (2010) David T. Miller et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities
- (2010) Melanie Manning et al. GENETICS IN MEDICINE
- Detection of clinically relevant exonic copy-number changes by array CGH
- (2010) Philip M. Boone et al. HUMAN MUTATION
- NMDA-induced neuronal survival is mediated through nuclear factor I-A in mice
- (2010) Sika Zheng et al. JOURNAL OF CLINICAL INVESTIGATION
- Rare familial 16q21 microdeletions under a linkage peak implicate cadherin 8 (CDH8) in susceptibility to autism and learning disability
- (2010) A. T. Pagnamenta et al. JOURNAL OF MEDICAL GENETICS
- A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay
- (2010) Santhosh Girirajan et al. NATURE GENETICS
- Characterising and Predicting Haploinsufficiency in the Human Genome
- (2010) Ni Huang et al. PLoS Genetics
- A novel 1p31.3p32.2 deletion involving the NFIA gene detected by array CGH in a patient with macrocephaly and hypoplasia of the corpus callosum
- (2009) Udo Koehler et al. EUROPEAN JOURNAL OF PEDIATRICS
- δ-Catenin Is Required for the Maintenance of Neural Structure and Function in Mature Cortex In Vivo
- (2009) Cheryl Matter et al. NEURON
- Recurrent CNVs Disrupt Three Candidate Genes in Schizophrenia Patients
- (2008) Terry Vrijenhoek et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Enhanced detection of clinically relevant genomic imbalances using a targeted plus whole genome oligonucleotide microarray
- (2008) Erin L Baldwin et al. GENETICS IN MEDICINE
Add your recorded webinar
Do you already have a recorded webinar? Grow your audience and get more views by easily listing your recording on Peeref.
Upload NowCreate your own webinar
Interested in hosting your own webinar? Check the schedule and propose your idea to the Peeref Content Team.
Create Now