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SHAW, CHAD
One or more keywords matched the following items that are connected to SHAW, CHAD
Item TypeName
Academic Article Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching.
Concept Genetic Diseases, Inborn
Concept Genetic Diseases, X-Linked
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 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 Somatic mosaicism: implications for disease and transmission genetics.
Academic Article Molecular diagnostic experience of whole-exome sequencing in adult patients.
Academic Article Clinical bioinformatics: emergence of a new laboratory discipline.
Academic Article Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation.
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 Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management.
Academic Article Reanalysis of Clinical Exome Sequencing Data.
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.
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  • Genetic Diseases Inborn