| Item Type | Name |
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Academic Article
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Mutations in SYNGAP1 cause intellectual disability, autism, and a specific form of epilepsy by inducing haploinsufficiency.
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Academic Article
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Clinical application of whole-exome sequencing: a novel autosomal recessive spastic ataxia of Charlevoix-Saguenay sequence variation in a child with ataxia.
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Academic Article
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Clinical whole-exome sequencing for the diagnosis of mendelian disorders.
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Academic Article
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Processes and preliminary outputs for identification of actionable genes as incidental findings in genomic sequence data in the Clinical Sequencing Exploratory Research Consortium.
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Academic Article
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Genetic diagnosis through whole-exome sequencing.
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Academic Article
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Exome sequencing resolves apparent incidental findings and reveals further complexity of SH3TC2 variant alleles causing Charcot-Marie-Tooth neuropathy.
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Academic Article
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De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea.
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Academic Article
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Obtaining informed consent for clinical tumor and germline exome sequencing of newly diagnosed childhood cancer patients.
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Academic Article
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Molecular findings among patients referred for clinical whole-exome sequencing.
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Academic Article
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Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations.
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Academic Article
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Diagnostic Yield of Clinical Tumor and Germline Whole-Exome Sequencing for Children With Solid Tumors.
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Academic Article
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Genome-Wide Sequencing for Prenatal Detection of Fetal Single-Gene Disorders.
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Academic Article
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Reproductive genetic counseling challenges associated with diagnostic exome sequencing in a large academic private reproductive genetic counseling practice.
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Academic Article
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Is Whole-Exome Sequencing an Ethically Disruptive Technology? Perspectives of Pediatric Oncologists and Parents of Pediatric Patients With Solid Tumors.
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Academic Article
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POGZ truncating alleles cause syndromic intellectual disability.
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Academic Article
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Molecular diagnostic experience of whole-exome sequencing in adult patients.
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Academic Article
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Whole exome sequencing identifies the first STRADA point mutation in a patient with polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome (PMSE).
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Academic Article
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De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive.
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Academic Article
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Integrated tumor and germline whole-exome sequencing identifies mutations in MAPK and PI3K pathway genes in an adolescent with rosette-forming glioneuronal tumor of the fourth ventricle.
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Academic Article
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Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans.
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Academic Article
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De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia.
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Academic Article
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Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.
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Academic Article
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Homozygous variants in pyrroline-5-carboxylate reductase 2 (PYCR2) in patients with progressive microcephaly and hypomyelinating leukodystrophy.
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Academic Article
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Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation.
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Academic Article
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Exome sequencing identifies de novo pathogenic variants in FBN1 and TRPS1 in a patient with a complex connective tissue phenotype.
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Academic Article
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A de novo mutation in the X-linked PAK3 gene is the underlying cause of intellectual disability and macrocephaly in monozygotic twins.
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Academic Article
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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.
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Academic Article
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Lessons learned from additional research analyses of unsolved clinical exome cases.
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Academic Article
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Heterozygous variants in ACTL6A, encoding a component of the BAF complex, are associated with intellectual disability.
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Academic Article
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Two de novo novel mutations in one SHANK3 allele in a patient with autism and moderate intellectual disability.
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Academic Article
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Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management.
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Academic Article
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Whole exome sequencing in 342 congenital cardiac left sided lesion cases reveals extensive genetic heterogeneity and complex inheritance patterns.
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Academic Article
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De novo apparent loss-of-function mutations in PRR12 in three patients with intellectual disability and iris abnormalities.
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Academic Article
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De Novo Missense Variants in TRAF7 Cause Developmental Delay, Congenital Anomalies, and Dysmorphic Features.
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Academic Article
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Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies.
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Academic Article
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Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder.
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Academic Article
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Next-Generation Sequencing to Diagnose Suspected Genetic Disorders.
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Academic Article
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Next-Generation Sequencing to Diagnose Suspected Genetic Disorders.
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Academic Article
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Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease.
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Grant
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Clinical Sequencing Core Facility for the Undiagnosed Diseases Network (UDN)
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Academic Article
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Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes.
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Academic Article
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Extracutaneous manifestations in phacomatosis cesioflammea and cesiomarmorata: Case series and literature review.
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Academic Article
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A toolkit for genetics providers in follow-up of patients with non-diagnostic exome sequencing.
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Concept
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Exome
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Academic Article
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Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases.
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Academic Article
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Reanalysis of Clinical Exome Sequencing Data.
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Academic Article
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DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract.
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Academic Article
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A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencing.
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Academic Article
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A Genocentric Approach to Discovery of Mendelian Disorders.
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Academic Article
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CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels.
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Academic Article
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Low-level parental somatic mosaic SNVs in exomes from a large cohort of trios with diverse suspected Mendelian conditions.
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Academic Article
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Functional and structural analysis of cytokine-selective IL6ST defects that cause recessive hyper-IgE syndrome.
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Academic Article
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Heterozygous variants in SPTBN1 cause intellectual disability and autism.
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Academic Article
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Contribution of uniparental disomy in a clinical trio exome cohort of 2675 patients.
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Academic Article
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Retrospective analysis of a clinical exome sequencing cohort reveals the mutational spectrum and identifies candidate disease-associated loci for BAFopathies.
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Academic Article
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Evaluation of an automated genome interpretation model for rare disease routinely used in a clinical genetic laboratory.
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