Clinical application of whole-exome sequencing across clinical indications. - Test2 - elhamkhani - TriplyDB

Clinical application of whole-exome sequencing across clinical indications.

Clinical application of whole-exome sequencing across clinical indications.

http://www.wikidata.org/entity/Q41075733

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Genetic Counseling for Autism Spectrum Disorder in an Evolving Theoretical Landscape A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories.Systematic reanalysis of clinical exome data yields additional diagnoses: implications for providers.When "N of 2" is not enough: integrating statistical and functional data in gene discovery.Promises, pitfalls and practicalities of prenatal whole exome sequencing.The rare and undiagnosed diseases diagnostic service - application of massively parallel sequencing in a state-wide clinical service.A missing link in the bench-to-bedside paradigm: engaging regulatory stakeholders in clinical genomics research.De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases.Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation.Lessons learned from additional research analyses of unsolved clinical exome cases.International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases.Leveraging network analytics to infer patient syndrome and identify causal genes in rare disease cases.Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome.Genomic diagnostics within a medically underserved population: efficacy and implications.Pharmacogenomic findings from clinical whole exome sequencing of diagnostic odyssey patients.FOXG1 syndrome: genotype-phenotype association in 83 patients with FOXG1 variants.Mutations in SLC5A6 associated with brain, immune, bone, and intestinal dysfunction in a young child.Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development.Sequencing-based diagnostics for pediatric genetic diseases: progress and potential GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects.The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results.Baraitser-Winter cerebrofrontofacial syndrome.De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder.Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications.Deep Genetic Connection Between Cancer and Developmental Disorders.Recurrent rhinovirus infections in a child with inherited MDA5 deficiency.Model Organisms Facilitate Rare Disease Diagnosis and Therapeutic Research.Novel Causative Variants in DYRK1A, KARS, and KAT6A Associated with Intellectual Disability and Additional Phenotypic Features.Further evidence that de novo missense and truncating variants in ZBTB18 cause intellectual disability with variable features.MultiDimensional ClinOmics for Precision Therapy of Children and Adolescent Young Adults with Relapsed and Refractory Cancer: A Report from the Center for Cancer Research.Lessons learned from the search for genes responsible for rare Mendelian disorders.Potential Role of Genomic Sequencing in the Early Diagnosis of Treatable Genetic Conditions.De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy.Successful Application of Whole Genome Sequencing in a Medical Genetics Clinic.Prenatal exome sequencing in anomalous fetuses: new opportunities and challenges.Improved Diagnosis and Care for Rare Diseases through Implementation of Precision Public Health Framework.Making new genetic diagnoses with old data: iterative reanalysis and reporting from genome-wide data in 1,133 families with developmental disorders.High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.

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Clinical application of whole-exome sequencing across clinical indications.

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2015年學術文章

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2015年學術文章

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2015年學術文章

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Clinical application of whole-exome sequencing across clinical indications.

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Clinical application of whole-exome sequencing across clinical indications.

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Clinical application of whole-exome sequencing across clinical indications.

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Genetics in Medicine

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Clinical application of whole-exome sequencing across clinical indications.

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Annette Vertino-Bell

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Bethany Friedman

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Dianalee McKnight

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Gabriele Richard

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Jackie Tahiliani

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Jane Juusola

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Nizar Smaoui

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Patrik Vitazka

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Renkui Bai

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De novo mutations in epileptic encephalopathies

Fast and accurate short read alignment with Burrows-Wheeler transform

The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data

Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss

The contribution of de novo coding mutations to autism spectrum disorder

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling

Mutations in ARID2 are associated with intellectual disabilities.

Deficiency of asparagine synthetase causes congenital microcephaly and a progressive form of encephalopathy.

De novo KCNB1 mutations in epileptic encephalopathy.

De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea.

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696-704

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10.1038/GIM.2015.148

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7

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18

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Daniel E Pineda-Alvarez

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Eden Haverfield

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2015-12-03T00:00:00Z

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