The application of next-generation sequencing in the autozygosity mapping of human recessive diseases.
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ZBTB42 mutation defines a novel lethal congenital contracture syndrome (LCCS6).CCDC151 mutations cause primary ciliary dyskinesia by disruption of the outer dynein arm docking complex formationUpdate on the genetics of bardet-biedl syndromeA homozygous truncating mutation in PUS3 expands the role of tRNA modification in normal cognitionFBXO32, encoding a member of the SCF complex, is mutated in dilated cardiomyopathyMutations in ASPH cause facial dysmorphism, lens dislocation, anterior-segment abnormalities, and spontaneous filtering blebs, or Traboulsi syndromeIFT27, encoding a small GTPase component of IFT particles, is mutated in a consanguineous family with Bardet-Biedl syndromeGenetics and genomic medicine in Saudi ArabiaGNB5 mutation causes a novel neuropsychiatric disorder featuring attention deficit hyperactivity disorder, severely impaired language development and normal cognitionTLE6 mutation causes the earliest known human embryonic lethality.Rapid Detection of Rare Deleterious Variants by Next Generation Sequencing with Optional Microarray SNP Genotype Data.Genetic testing in the epilepsies-developments and dilemmas.Mutations in CSPP1, encoding a core centrosomal protein, cause a range of ciliopathy phenotypes in humans.A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family.LOXL3, encoding lysyl oxidase-like 3, is mutated in a family with autosomal recessive Stickler syndrome.GOLGA2, encoding a master regulator of golgi apparatus, is mutated in a patient with a neuromuscular disorder.Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes.A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies.Runs of homozygosity reveal signatures of positive selection for reproduction traits in breed and non-breed horsesMutation in WDR4 impairs tRNA m(7)G46 methylation and causes a distinct form of microcephalic primordial dwarfismPhenotypes of Recessive Pediatric Cataract in a Cohort of Children with Identified Homozygous Gene Mutations (An American Ophthalmological Society Thesis)The Use of High-Density SNP Array to Map Homozygosity in Consanguineous Families to Efficiently Identify Candidate Genes: Application to Woodhouse-Sakati SyndromeMutations in UNC80, Encoding Part of the UNC79-UNC80-NALCN Channel Complex, Cause Autosomal-Recessive Severe Infantile EncephalopathyMutation of the mitochondrial carrier SLC25A42 causes a novel form of mitochondrial myopathy in humansLinkage analysis and the study of Mendelian disease in the era of whole exome and genome sequencing.Whole exome sequencing as a diagnostic tool for patients with ciliopathy-like phenotypesGenetics of movement disorders in the next-generation sequencing era.Discovery of mutations for Mendelian disorders.Novel phenotypes and loci identified through clinical genomics approaches to pediatric cataract.A null mutation in TNIK defines a novel locus for intellectual disability.Expanding the clinical and genetic heterogeneity of hereditary disorders of connective tissue.Ciliary genes TBC1D32/C6orf170 and SCLT1 are mutated in patients with OFD type IX.GZF1 Mutations Expand the Genetic Heterogeneity of Larsen Syndrome.Accelerating matchmaking of novel dysmorphology syndromes through clinical and genomic characterization of a large cohort.Novel mutations in genes causing hereditary spastic paraplegia and Charcot-Marie-Tooth neuropathy identified by an optimized protocol for homozygosity mapping based on whole-exome sequencing.A lethal phenotype associated with tissue plasminogen deficiency in humans.Identification of embryonic lethal genes in humans by autozygosity mapping and exome sequencing in consanguineous families.Misleading presentation of haemoglobin electrophoresis data.Prenatal homozygosity mapping detects a novel mutation in CHST3 in a fetus with skeletal dysplasia and joint dislocations.Mutations in CIT, encoding citron rho-interacting serine/threonine kinase, cause severe primary microcephaly in humans.
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P2860
The application of next-generation sequencing in the autozygosity mapping of human recessive diseases.
description
article científic
@ca
article scientifique
@fr
articol științific
@ro
articolo scientifico
@it
artigo científico
@gl
artigo científico
@pt
artigo científico
@pt-br
artikel ilmiah
@id
artikull shkencor
@sq
artículo científico
@es
name
The application of next-genera ...... g of human recessive diseases.
@en
type
label
The application of next-genera ...... g of human recessive diseases.
@en
prefLabel
The application of next-genera ...... g of human recessive diseases.
@en
P2860
P1433
P1476
The application of next-genera ...... g of human recessive diseases.
@en
P2860
P2888
P304
P356
10.1007/S00439-013-1344-X
P577
2013-08-02T00:00:00Z
P5875
P6179
1051941291