Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios.
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Human GRIN2B variants in neurodevelopmental disordersDe Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability SyndromeA Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3Inhibition of microRNA 128 promotes excitability of cultured cortical neuronal networks.Whole exome sequencing of Rett syndrome-like patients reveals the mutational diversity of the clinical phenotype.GNAO1 encephalopathy: Broadening the phenotype and evaluating treatment and outcome.Data sharing in the undiagnosed diseases network.New diagnosis of atypical ataxia-telangiectasia in a 17-year-old boy with T-cell acute lymphoblastic leukemia and a novel ATM mutationClinical Applicability of Whole-Exome Sequencing Exemplified by a Study in Young Adults with the Advanced Cryptogenic Cholestatic Liver Diseases.India Allele Finder: a web-based annotation tool for identifying common alleles in next-generation sequencing data of Indian origin.A Coding Variant in the Gene Bardet-Biedl Syndrome 4 (BBS4) Is Associated with a Novel Form of Canine Progressive Retinal Atrophy.A novel human mutation in the SLC9A1 gene results in abolition of Na+/H+ exchanger activity.Genomic analysis in the clinic: benefits and challenges for health care professionals and patients in BrazilVarElect: the phenotype-based variation prioritizer of the GeneCards Suite.The human gene damage index as a gene-level approach to prioritizing exome variants.De novo mutational profile in RB1 clarified using a mutation rate modeling algorithm[Diagnostics in human genetics : Integration of phenotypic and genomic data].A roadmap for precision medicine in the epilepsies.Application of rare variant transmission disequilibrium tests to epileptic encephalopathy trio sequence data.Orthogonal NGS for High Throughput Clinical Diagnostics.Exome sequencing results in successful riboflavin treatment of a rapidly progressive neurological condition.Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy.Whole Exome Screening Identifies Novel and Recurrent WISP3 Mutations Causing Progressive Pseudorheumatoid Dysplasia in Jammu and Kashmir-India.Joint detection of copy number variations in parent-offspring trios.Novel mutations in PAX6, OTX2 and NDP in anophthalmia, microphthalmia and coloboma.Exome Sequencing and the Management of Neurometabolic Disorders.A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease.De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to ThriveNeuropsychiatric genomics in precision medicine: diagnostics, gene discovery, and translation.Mechanistic Insight into NMDA Receptor Dysregulation by Rare Variants in the GluN2A and GluN2B Agonist Binding Domains.A variant by any name: quantifying annotation discordance across tools and clinical databasesCandidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases.Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU.Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation.Human Genetic Determinants of Viral Diseases.Pharmacogenomic findings from clinical whole exome sequencing of diagnostic odyssey patients.Genetics of Combined Pituitary Hormone Deficiency: Roadmap into the Genome Era.Implementing genomics and pharmacogenomics in the clinic: The National Human Genome Research Institute's genomic medicine portfolio.GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects.
P2860
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P2860
Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios.
description
2015 nî lūn-bûn
@nan
2015年の論文
@ja
2015年論文
@yue
2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
@zh-tw
2015年论文
@wuu
2015年论文
@zh
2015年论文
@zh-cn
name
Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios.
@ast
Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios.
@en
type
label
Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios.
@ast
Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios.
@en
prefLabel
Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios.
@ast
Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios.
@en
P2093
P2860
P50
P356
P1433
P1476
Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios.
@en
P2093
Andreea Nissenkorn
Anna C Need
Bruria Ben-Zeev
Danit Oz-Levi
David B Goldstein
Dina Marek-Yagel
Doron Lancet
Elizabeth K Ruzzo
Gali Heimer
P2860
P2888
P304
P356
10.1038/GIM.2014.191
P407
P577
2015-01-15T00:00:00Z
P6179
1044720205