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MUZNY, DONNA
One or more keywords matched the following items that are connected to MUZNY, DONNA
Item TypeName
Academic Article Exome sequencing of head and neck squamous cell carcinoma reveals inactivating mutations in NOTCH1.
Academic Article Whole-exome sequencing identifies compound heterozygous mutations in WDR62 in siblings with recurrent polymicrogyria.
Academic Article Whole exome capture in solution with 3 Gbp of data.
Academic Article Targeted enrichment beyond the consensus coding DNA sequence exome reveals exons with higher variant densities.
Academic Article Whole-exome sequencing identifies ALMS1, IQCB1, CNGA3, and MYO7A mutations in patients with Leber congenital amaurosis.
Academic Article Identification of TP53 as an acute lymphocytic leukemia susceptibility gene through exome sequencing.
Academic Article Frequent somatic mutations in MAP3K5 and MAP3K9 in metastatic melanoma identified by exome sequencing.
Academic Article Patterns and rates of exonic de novo mutations in autism spectrum disorders.
Academic Article Exploring the utility of whole-exome sequencing as a diagnostic tool in a child with atypical episodic muscle weakness.
Academic Article Exome sequencing of ion channel genes reveals complex profiles confounding personal risk assessment in epilepsy.
Academic Article Analysis of rare, exonic variation amongst subjects with autism spectrum disorders and population controls.
Academic Article Exome sequencing identification of a GJB1 missense mutation in a kindred with X-linked spinocerebellar ataxia (SCA-X1).
Academic Article Clinical whole-exome sequencing for the diagnosis of mendelian disorders.
Academic Article Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome.
Academic Article Exome sequencing resolves apparent incidental findings and reveals further complexity of SH3TC2 variant alleles causing Charcot-Marie-Tooth neuropathy.
Academic Article De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea.
Academic Article Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations.
Academic Article Whole-exome sequencing links TMCO1 defect syndrome with cerebro-facio-thoracic dysplasia.
Academic Article Whole-exome sequencing reveals GPIHBP1 mutations in infantile colitis with severe hypertriglyceridemia.
Academic Article Whole exome sequencing identifies three novel mutations in ANTXR1 in families with GAPO syndrome.
Academic Article The somatic genomic landscape of chromophobe renal cell carcinoma.
Academic Article Mutational landscape of aggressive cutaneous squamous cell carcinoma.
Academic Article Whole-exome sequencing identifies homozygous GPR161 mutation in a family with pituitary stalk interruption syndrome.
Academic Article Molecular findings among patients referred for clinical whole-exome sequencing.
Academic Article Whole exome sequencing identifies novel genes for fetal hemoglobin response to hydroxyurea in children with sickle cell anemia.
Academic Article Trans-ancestry mutational landscape of hepatocellular carcinoma genomes.
Academic Article Germline mutations in shelterin complex genes are associated with familial glioma.
Academic Article Mutations in COL27A1 cause Steel syndrome and suggest a founder mutation effect in the Puerto Rican population.
Academic Article Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes.
Academic Article Low-frequency and rare exome chip variants associate with fasting glucose and type 2 diabetes susceptibility.
Academic Article FBN1 contributing to familial congenital diaphragmatic hernia.
Academic Article The distribution and mutagenesis of short coding INDELs from 1,128 whole exomes.
Academic Article Rise and fall of subclones from diagnosis to relapse in pediatric B-acute lymphoblastic leukaemia.
Academic Article DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome.
Academic Article Exome sequencing reveals homozygous TRIM2 mutation in a patient with early onset CMT and bilateral vocal cord paralysis.
Academic Article Analysis of loss-of-function variants and 20 risk factor phenotypes in 8,554 individuals identifies loci influencing chronic disease.
Academic Article Homozygous loss-of-function mutations in SOHLH1 in patients with nonsyndromic hypergonadotropic hypogonadism.
Academic Article Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations.
Academic Article Diagnostic Yield of Clinical Tumor and Germline Whole-Exome Sequencing for Children With Solid Tumors.
Academic Article Whole Exome Sequencing Identifies an Adult-Onset Case of Methylmalonic Aciduria and Homocystinuria Type C (cblC) with Non-Syndromic Bull's Eye Maculopathy.
Academic Article Loss of Function Mutations in NNT Are Associated With Left Ventricular Noncompaction.
Academic Article Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy.
Academic Article Genomic profiling of S?zary syndrome identifies alterations of key T cell signaling and differentiation genes.
Academic Article Whole-Exome Sequencing in Familial Parkinson Disease.
Academic Article POGZ truncating alleles cause syndromic intellectual disability.
Academic Article Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine.
Academic Article The role of combined SNV and CNV burden in patients with distal symmetric polyneuropathy.
Academic Article Molecular diagnostic experience of whole-exome sequencing in adult patients.
Academic Article Rare Exome Sequence Variants in CLCN6 Reduce Blood Pressure Levels and Hypertension Risk.
Academic Article Multiallelic Positions in the Human Genome: Challenges for Genetic Analyses.
Academic Article Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin.
Academic Article Identification of Intellectual Disability Genes in Female Patients with a Skewed X-Inactivation Pattern.
Academic Article Whole exome sequencing identifies the first STRADA point mutation in a patient with polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome (PMSE).
Academic Article Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate.
Academic Article Whole-Exome Sequencing Identifies Loci Associated with Blood Cell Traits and Reveals a Role for Alternative GFI1B Splice Variants in Human Hematopoiesis.
Academic Article Whole Exome Sequencing in Atrial Fibrillation.
Academic Article Loss-of-function variants influence the human serum metabolome.
Academic Article Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans.
Academic Article Identification of a RAI1-associated disease network through integration of exome sequencing, transcriptomics, and 3D genomics.
Academic Article Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation.
Academic Article Whole-exome sequencing reveals an inherited R566X mutation of the epithelial sodium channel ?-subunit in a case of early-onset phenotype of Liddle syndrome.
Academic Article Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort.
Academic Article Enrichment of mutations in chromatin regulators in people with Rett syndrome lacking mutations in MECP2.
Academic Article Whole-Exome Sequencing Identifies Loci Associated with Blood Cell Traits and Reveals a Role for Alternative GFI1B Splice Variants in Human Hematopoiesis.
Academic Article Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene.
Academic Article An exome sequencing study of Moebius syndrome including atypical cases reveals an individual with CFEOM3A and a TUBB3 mutation.
Academic Article Whole exome sequencing in the Framingham Heart Study identifies rare variation in HYAL2 that influences platelet aggregation.
Academic Article Lessons learned from additional research analyses of unsolved clinical exome cases.
Academic Article Improved full-length killer cell immunoglobulin-like receptor transcript discovery in Mauritian cynomolgus macaques.
Academic Article Exome sequencing reveals novel genetic loci influencing obesity-related traits in Hispanic children.
Academic Article A biallelic ANTXR1 variant expands the anthrax toxin receptor associated phenotype to tooth agenesis.
Academic Article Characterizing reduced coverage regions through comparison of exome and genome sequencing data across 10 centers.
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 Whole exome sequencing in 342 congenital cardiac left sided lesion cases reveals extensive genetic heterogeneity and complex inheritance patterns.
Academic Article Mutations in PI3K110d cause impaired natural killer cell function partially rescued by rapamycin treatment.
Academic Article Whole-genome sequencing study of serum peptide levels: the Atherosclerosis Risk in Communities study.
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 Whole exome sequencing study identifies novel rare and common Alzheimer's-Associated variants involved in immune response and transcriptional regulation.
Academic Article Elucidating the molecular pathogenesis of glioma: integrated germline and somatic profiling of a familial glioma case series.
Academic Article Insights into genetics, human biology and disease gleaned from family based genomic studies.
Academic Article Identification of Polycystic Kidney Disease 1 Like 1 Gene Variants in Children With Biliary Atresia Splenic Malformation Syndrome.
Academic Article Genetic architecture of laterality defects revealed by whole exome sequencing.
Academic Article Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes.
Academic Article Rare variants in SLC5A10 are associated with serum 1,5-anhydroglucitol (1,5-AG) in the Atherosclerosis Risk in Communities (ARIC) Study.
Academic Article Exome Sequencing of a Primary Ovarian Insufficiency Cohort Reveals Common Molecular Etiologies for a Spectrum of Disease.
Concept Exome
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 Reanalysis of Clinical Exome Sequencing Data.
Academic Article The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance.
Academic Article Paralog Studies Augment Gene Discovery: DDX and DHX Genes.
Academic Article MHC genotyping from rhesus macaque exome sequences.
Academic Article Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes.
Academic Article Whole exome sequencing in a large pedigree with DCM identifies a novel mutation in RBM20.
Academic Article Correction: Whole exome sequencing study identifies novel rare and common Alzheimer's-Associated variants involved in immune response and transcriptional regulation.
Academic Article A Genocentric Approach to Discovery of Mendelian Disorders.
Academic Article A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders.
Academic Article Wolff-Parkinson-White syndrome: De novo variants and evidence for mutational burden in genes associated with atrial fibrillation.
Academic Article CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels.
Academic Article Low-level parental somatic mosaic SNVs in exomes from a large cohort of trios with diverse suspected Mendelian conditions.
Academic Article Community-based recruitment and exome sequencing indicates high diagnostic yield in adults with intellectual disability.
Academic Article Novel pathogenic genomic variants leading to autosomal dominant and recessive Robinow syndrome.
Academic Article Sequencing of a central nervous system tumor demonstrates cancer transmission in an organ transplant.
Academic Article Genetic errors of immunity distinguish pediatric nonmalignant lymphoproliferative disorders.
Academic Article Exome sequencing in children with clinically suspected maturity-onset diabetes of the young.
Academic Article High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population.
Academic Article Rare coding variants in 35 genes associate with circulating lipid levels-A multi-ancestry analysis of 170,000 exomes.
Academic Article Whole-exome sequencing of 14?389 individuals from the ESP and CHARGE consortia identifies novel rare variation associated with hemostatic factors.
Academic Article Exome-wide assessment of isolated biliary atresia: A report from the National Birth Defects Prevention Study using child-parent trios and a case-control design to identify novel rare variants.
Academic Article HMZDupFinder: a robust computational approach for detecting intragenic homozygous duplications from exome sequencing data.
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  • Exome