Massively parallel sequencing of exons on the X chromosome identifies RBM10 as the gene that causes a syndromic form of cleft palate.
about
Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteasesEvolutionary conservation and expression of human RNA-binding proteins and their role in human genetic diseaseUsing VAAST to identify an X-linked disorder resulting in lethality in male infants due to N-terminal acetyltransferase deficiencyGenome-scale sequencing to identify genes involved in Mendelian disordersMassively parallel sequencing and rare disease.Homozygosity mapping and whole-exome sequencing to detect SLC45A2 and G6PC3 mutations in a single patient with oculocutaneous albinism and neutropeniaPhenoVar: a phenotype-driven approach in clinical genomics for the diagnosis of polymalformative syndromes.Identity-by-descent filtering of exome sequence data for disease-gene identification in autosomal recessive disordersRBM10 promotes transformation-associated processes in small cell lung cancer and is directly regulated by RBM5.An RRM-ZnF RNA recognition module targets RBM10 to exonic sequences to promote exon exclusionThe National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases.Strategies for exome and genome sequence data analysis in disease-gene discovery projects.Rbm24a and Rbm24b are required for normal somitogenesis.Detecting genomic indel variants with exact breakpoints in single- and paired-end sequencing data using SplazerS.Genetic basis of congenital cardiovascular malformationsCompound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathy.Exome sequencing: the sweet spot before whole genomes.CONTRA: copy number analysis for targeted resequencing.Exome sequencing and SNP analysis detect novel compound heterozygosity in fatty acid hydroxylase-associated neurodegeneration.X-linked genes and risk of orofacial clefts: evidence from two population-based studies in Scandinavia.Exome sequencing identifies titin mutations causing hereditary myopathy with early respiratory failure (HMERF) in families of diverse ethnic originsPolydactyly: how many disorders and how many genes? 2010 update.Insight into the role of alternative splicing within the RBM10v1 exon 10 tandem donor site.Next-generation sequencing identifies mutations of SMPX, which encodes the small muscle protein, X-linked, as a cause of progressive hearing impairment.Exome sequencing-based copy-number variation and loss of heterozygosity detection: ExomeCNVEffective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genomeTargeted enrichment beyond the consensus coding DNA sequence exome reveals exons with higher variant densities.Impaired osteoblast and osteoclast function characterize the osteoporosis of Snyder - Robinson syndrome.Whole-exome sequencing uncovers frequent GNAS mutations in intraductal papillary mucinous neoplasms of the pancreas.The phenotype of a germline mutation in PIGA: the gene somatically mutated in paroxysmal nocturnal hemoglobinuria.Detecting false-positive signals in exome sequencingDisruption of Golgi morphology and altered protein glycosylation in PLA2G6-associated neurodegenerationSrc Family Tyrosine Kinase Signaling Regulates FilGAP through Association with RBM10.Exome sequencing as a diagnostic tool in a case of undiagnosed juvenile-onset GM1-gangliosidosis.Limb body wall complex, amniotic band sequence, or new syndrome caused by mutation in IQ Motif containing K (IQCK)?The transcription factors Ets1 and Sox10 interact during murine melanocyte development.Nuclear Magnetic Resonance Structure of a Novel Globular Domain in RBM10 Containing OCRE, the Octamer Repeat Sequence MotifExome sequencing and unrelated findings in the context of complex disease research: ethical and clinical implications.Complex translocation disrupting TCF4 and altering TCF4 isoform expression segregates as mild autosomal dominant intellectual disabilitySystematic Evaluation of Sanger Validation of Next-Generation Sequencing Variants
P2860
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P2860
Massively parallel sequencing of exons on the X chromosome identifies RBM10 as the gene that causes a syndromic form of cleft palate.
description
2010 nî lūn-bûn
@nan
2010 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի մայիսին հրատարակված գիտական հոդված
@hy
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
name
Massively parallel sequencing ...... yndromic form of cleft palate.
@ast
Massively parallel sequencing ...... yndromic form of cleft palate.
@en
type
label
Massively parallel sequencing ...... yndromic form of cleft palate.
@ast
Massively parallel sequencing ...... yndromic form of cleft palate.
@en
prefLabel
Massively parallel sequencing ...... yndromic form of cleft palate.
@ast
Massively parallel sequencing ...... yndromic form of cleft palate.
@en
P2093
P2860
P1476
Massively parallel sequencing ...... yndromic form of cleft palate.
@en
P2093
Jamie K Teer
Jennifer J Johnston
Karen Chong
NIH Intramural Sequencing Center (NISC)
Nancy F Hansen
Praveen F Cherukuri
Stacie K Loftus
P2860
P304
P356
10.1016/J.AJHG.2010.04.007
P407
P577
2010-05-06T00:00:00Z