Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.
about
KIAA0556 is a novel ciliary basal body component mutated in Joubert syndromeA homozygous truncating mutation in PUS3 expands the role of tRNA modification in normal cognitionWhole exome sequencing reveals inherited and de novo variants in autism spectrum disorder: a trio study from Saudi familiesClinical heterogeneity of PLA2G6-related Parkinsonism: analysis of two Saudi familiesIdentification of a Recognizable Progressive Skeletal Dysplasia Caused by RSPRY1 Mutations.Novel Candidate Genes and a Wide Spectrum of Structural and Point Mutations Responsible for Inherited Retinal Dystrophies Revealed by Exome SequencingNewborn screening and the era of medical genomics.Genomic newborn screening: public health policy considerations and recommendations.Clinical sequencing: is WGS the better WES?Mutations in TBCK, Encoding TBC1-Domain-Containing Kinase, Lead to a Recognizable Syndrome of Intellectual Disability and Hypotonia.Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease.Further Delineation of the ALG9-CDG Phenotype.Next-generation sequencing for diagnosis of rare diseases in the neonatal intensive care unit.A first-line diagnostic assay for limb-girdle muscular dystrophy and other myopathies.Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases.The correlation between CRB1 variants and the clinical severity of Brazilian patients with different inherited retinal dystrophy phenotypes.Evaluation of exome variants using the Ion Proton Platform to sequence error-prone regions.Evaluation of Quality Assessment Protocols for High Throughput Genome Resequencing Data.Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish.Ciliopathies: Genetics in Pediatric Medicine.Discovery of mutations for Mendelian disorders.Molecular findings from 537 individuals with inherited retinal disease.Next-generation sequencing in neuromuscular diseases.Rare syndromes of the head and face: mandibulofacial and acrofacial dysostoses.Novel phenotypes and loci identified through clinical genomics approaches to pediatric cataract.Clinical genomics can facilitate countrywide estimation of autosomal recessive disease burden.A null mutation in TNIK defines a novel locus for intellectual disability.Characterizing the morbid genome of ciliopathies.Genetic spectrum of Saudi Arabian patients with antenatal cystic kidney disease and ciliopathy phenotypes using a targeted renal gene panel.Distal acroosteolysis, poikiloderma and joint stiffness: a novel laminopathy?Revisiting the morbid genome of Mendelian disorders.Erratum to: Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.Large gene panel sequencing in clinical diagnostics-results from 501 consecutive cases.Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield.Genomic medicine for kidney disease.Diagnostic Impact and Cost-effectiveness of Whole-Exome Sequencing for Ambulant Children With Suspected Monogenic Conditions.The genetic landscape of familial congenital hydrocephalus.Proband-only medical exome sequencing as a cost-effective first-tier genetic diagnostic test for patients without prior molecular tests and clinical diagnosis in a developing country: the China experience.A 1000 Arab genome project to study the Emirati population.
P2860
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P2860
Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.
description
2015 nî lūn-bûn
@nan
2015 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
2015 թվականի հունիսին հրատարակված գիտական հոդված
@hy
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
name
Comprehensive gene panels prov ...... encing for Mendelian diseases.
@ast
Comprehensive gene panels prov ...... encing for Mendelian diseases.
@en
type
label
Comprehensive gene panels prov ...... encing for Mendelian diseases.
@ast
Comprehensive gene panels prov ...... encing for Mendelian diseases.
@en
prefLabel
Comprehensive gene panels prov ...... encing for Mendelian diseases.
@ast
Comprehensive gene panels prov ...... encing for Mendelian diseases.
@en
P2860
P1433
P1476
Comprehensive gene panels prov ...... encing for Mendelian diseases.
@en
P2093
Saudi Mendeliome Group
P2860
P2888
P356
10.1186/S13059-015-0693-2
P577
2015-06-26T00:00:00Z
P5875
P6179
1018176520