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MUZNY, DONNA

One or more keywords matched the following items that are connected to MUZNY, DONNA

Item Type	Name
Academic Article	Identification of genetic risk variants for deep vein thrombosis by multiplexed next-generation sequencing of 186 hemostatic/pro-inflammatory genes.
Academic Article	Gene therapy rescues cilia defects and restores olfactory function in a mammalian ciliopathy model.
Academic Article	Evolutionary and biomedical insights from the rhesus macaque genome.
Academic Article	Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy.
Academic Article	Analysis of rare, exonic variation amongst subjects with autism spectrum disorders and population controls.
Concept	Genetic Diseases, Inborn
Concept	Eye Diseases, Hereditary
Academic Article	Clinical whole-exome sequencing for the diagnosis of mendelian disorders.
Academic Article	Targeted sequencing in candidate genes for atrial fibrillation: the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Targeted Sequencing Study.
Academic Article	A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases.
Academic Article	Molecular findings among patients referred for clinical whole-exome sequencing.
Academic Article	Low-frequency and rare exome chip variants associate with fasting glucose and type 2 diabetes susceptibility.
Academic Article	The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities.
Academic Article	Whole-Exome Sequencing in Familial Parkinson Disease.
Academic Article	Molecular diagnostic experience of whole-exome sequencing in adult patients.
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	An exome sequencing study of Moebius syndrome including atypical cases reveals an individual with CFEOM3A and a TUBB3 mutation.
Academic Article	Lessons learned from additional research analyses of unsolved clinical exome cases.
Academic Article	Unraveling genetic predisposition to familial or early onset gastric cancer using germline whole-exome sequencing.
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	Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder.
Academic Article	Phenotypic expansion illuminates multilocus pathogenic variation.
Academic Article	Insights into genetics, human biology and disease gleaned from family based genomic studies.
Academic Article	Reanalysis of Clinical Exome Sequencing Data.
Academic Article	A Genocentric Approach to Discovery of Mendelian Disorders.
Academic Article	CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels.
Academic Article	Whole-genome sequencing as an investigational device for return of hereditary disease risk and pharmacogenomic results as part of the All of Us Research Program.

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Genetic Diseases Inborn