Revisiting Mendelian disorders through exome sequencing.
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Exome-sequencing confirms DNAJC5 mutations as cause of adult neuronal ceroid-lipofuscinosis"Genotype-first" approaches on a curious case of idiopathic progressive cognitive declineWhole-genome DNA/RNA sequencing identifies truncating mutations in RBCK1 in a novel Mendelian disease with neuromuscular and cardiac involvementVarScan 2: somatic mutation and copy number alteration discovery in cancer by exome sequencingRecent Advances in Autism Spectrum Disorders: Applications of Whole Exome Sequencing TechnologyNew insights from monogenic diabetes for "common" type 2 diabetesClinical application of next-generation sequencing for Mendelian diseasesGenome-wide significant loci: how important are they? Systems genetics to understand heritability of coronary artery disease and other common complex disordersWhole-exome sequencing reveals TopBP1 as a novel gene in idiopathic pulmonary arterial hypertensionGermline mutations in NFKB2 implicate the noncanonical NF-κB pathway in the pathogenesis of common variable immunodeficiencyGenomic sequencing in clinical trialsWhole exome sequencing identifies a mutation for a novel form of corneal intraepithelial dyskeratosisWEP: a high-performance analysis pipeline for whole-exome data.PhenoVar: a phenotype-driven approach in clinical genomics for the diagnosis of polymalformative syndromes.A Path to Implement Precision Child Health Cardiovascular MedicineScreening for intellectual disability using high-resolution CMA technology in a retrospective cohort from Central Brazil.Validation and assessment of variant calling pipelines for next-generation sequencing.Sequence comparison of prefrontal cortical brain transcriptome from a tame and an aggressive silver fox (Vulpes vulpes).A novel variant in TBX20 (p.D176N) identified by whole-exome sequencing in combination with a congenital heart disease related gene filter is associated with familial atrial septal defect.Phylomedicine: an evolutionary telescope to explore and diagnose the universe of disease mutations.Gene discovery in familial cancer syndromes by exome sequencing: prospects for the elucidation of familial colorectal cancer type X.Whole-exome sequencing to decipher the genetic heterogeneity of hearing loss in a Chinese family with deaf by deaf mating.NUBPL mutations in patients with complex I deficiency and a distinct MRI pattern.SIMPLEX: cloud-enabled pipeline for the comprehensive analysis of exome sequencing data.The promise of whole-exome sequencing in medical genetics.Segregation of LIPG, CETP, and GALNT2 mutations in Caucasian families with extremely high HDL cholesterol.EVA: Exome Variation Analyzer, an efficient and versatile tool for filtering strategies in medical genomics.A novel follicle-stimulating hormone receptor mutation causing primary ovarian failure: a fertility application of whole exome sequencingA survey of tools for variant analysis of next-generation genome sequencing data.Single nucleotide variations: biological impact and theoretical interpretation.FLAGS, frequently mutated genes in public exomes.Genome-wide patterns of genetic variation in two domestic chickens.Eleven candidate susceptibility genes for common familial colorectal cancerMung bean nuclease treatment increases capture specificity of microdroplet-PCR based targeted DNA enrichmentMolecular Genetic Diagnosis of a Bethlem Myopathy Family with an Autosomal-Dominant COL6A1 Mutation, as Evidenced by Exome Sequencing.A review of study designs and statistical methods for genomic epidemiology studies using next generation sequencing.Introduction to bioinformatics: sequencing technology.The road from next-generation sequencing to personalized medicine.Resolving the variable genome and epigenome in human disease.Genetic [corrected] insights into the causes and classification of [corrected] cerebral palsies.
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Revisiting Mendelian disorders through exome sequencing.
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on 18 February 2011
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
@cs
name
Revisiting Mendelian disorders through exome sequencing.
@en
Revisiting Mendelian disorders through exome sequencing.
@nl
type
label
Revisiting Mendelian disorders through exome sequencing.
@en
Revisiting Mendelian disorders through exome sequencing.
@nl
prefLabel
Revisiting Mendelian disorders through exome sequencing.
@en
Revisiting Mendelian disorders through exome sequencing.
@nl
P2860
P1433
P1476
Revisiting Mendelian disorders through exome sequencing.
@en
P2093
Chee-Seng Ku
Yudi Pawitan
P2860
P2888
P304
P356
10.1007/S00439-011-0964-2
P577
2011-02-18T00:00:00Z