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SHAW, CHAD

One or more keywords matched the following items that are connected to SHAW, CHAD

Item Type	Name
Academic Article	Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Academic Article	Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE.
Academic Article	Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats.
Academic Article	Comparison of chromosome analysis and chromosomal microarray analysis: what is the value of chromosome analysis in today's genomic array era?
Academic Article	Assessment of the role of copy-number variants in 150 patients with congenital heart defects.
Academic Article	Detection of clinically relevant exonic copy-number changes by array CGH.
Academic Article	Genomic hypomethylation in the human germline associates with selective structural mutability in the human genome.
Academic Article	Application of custom-designed oligonucleotide array CGH in 145 patients with autistic spectrum disorders.
Academic Article	High frequency of known copy number abnormalities and maternal duplication 15q11-q13 in patients with combined schizophrenia and epilepsy.
Academic Article	Recurrent distal 7q11.23 deletion including HIP1 and YWHAG identified in patients with intellectual disabilities, epilepsy, and neurobehavioral problems.
Academic Article	Application of array comparative genomic hybridization in 102 patients with epilepsy and additional neurodevelopmental disorders.
Academic Article	Incidental copy-number variants identified by routine genome testing in a clinical population.
Academic Article	Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalities.
Concept	DNA Copy Number Variations
Academic Article	NAHR-mediated copy-number variants in a clinical population: mechanistic insights into both genomic disorders and Mendelizing traits.
Academic Article	Deletions of recessive disease genes: CNV contribution to carrier states and disease-causing alleles.
Academic Article	Screening and familial characterization of copy-number variations in NR5A1 in 46,XY disorders of sex development and premature ovarian failure.
Academic Article	Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing.
Academic Article	Application of array comparative genomic hybridization in 256 patients with developmental delay or intellectual disability.
Academic Article	Parental somatic mosaicism is underrecognized and influences recurrence risk of genomic disorders.
Academic Article	Parent of origin, mosaicism, and recurrence risk: probabilistic modeling explains the broken symmetry of transmission genetics.
Academic Article	Human endogenous retroviral elements promote genome instability via non-allelic homologous recombination.
Academic Article	Genome-wide analyses of LINE-LINE-mediated nonallelic homologous recombination.
Academic Article	Absence of heterozygosity due to template switching during replicative rearrangements.
Academic Article	Alu-mediated diverse and complex pathogenic copy-number variants within human chromosome 17 at p13.3.
Academic Article	Identifying diagnostically-relevant resting state brain functional connectivity in the ventral posterior complex via genetic data mining in autism spectrum disorder.
Academic Article	Comparison of three whole genome amplification methods for detection of genomic aberrations in single cells.
Academic Article	Evidence for feasibility of fetal trophoblastic cell-based noninvasive prenatal testing.
Academic Article	Genome-wide copy number analysis on DNA from fetal cells isolated from the blood of pregnant women.
Academic Article	De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder.
Academic Article	Copy number variation as a genetic basis for heterotaxy and heterotaxy-spectrum congenital heart defects.
Academic Article	Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort.
Academic Article	An Organismal CNV Mutator Phenotype Restricted to Early Human Development.
Academic Article	Identification of novel candidate disease genes from de novo exonic copy number variants.
Academic Article	Predicting human genes susceptible to genomic instability associated with Alu/Alu-mediated rearrangements.
Academic Article	Megabase Length Hypermutation Accompanies Human Structural Variation at 17p11.2.
Academic Article	Reliable detection of subchromosomal deletions and duplications using cell-based noninvasive prenatal testing.
Academic Article	Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases.
Academic Article	Validation Studies for Single Circulating Trophoblast Genetic Testing as a Form of Noninvasive Prenatal Diagnosis.
Academic Article	CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels.
Academic Article	Clinical exome sequencing data reveal high diagnostic yields for congenital diaphragmatic hernia plus (CDH+) and new phenotypic expansions involving CDH.
Academic Article	Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER data.

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DNA Copy Number Variations