De novo mutations of SETBP1 cause Schinzel-Giedion syndrome.
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Exome sequencing identifies ZNF644 mutations in high myopiaEarly Diagnosis of Werner's Syndrome Using Exome-Wide Sequencing in a Single, Atypical PatientDe novo mutations in moderate or severe intellectual disabilityWhole-exome re-sequencing in a family quartet identifies POP1 mutations as the cause of a novel skeletal dysplasiaHuman genetics and genomics a decade after the release of the draft sequence of the human genomeHuman genome sequencing in health and diseasePersonalized medicine: hope or hype?ZNF408 is mutated in familial exudative vitreoretinopathy and is crucial for the development of zebrafish retinal vasculatureWhole-Exome sequencing identifies FAM20A mutations as a cause of amelogenesis imperfecta and gingival hyperplasia syndromeExome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfectaGain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of Distal ArthrogryposisHomeotic arm-to-leg transformation associated with genomic rearrangements at the PITX1 locusCongenital heart disease: emerging themes linking genetics and developmentDisease gene identification strategies for exome sequencingNeurogenomics of speech and language disorders: the road aheadNetwork medicine approaches to the genetics of complex diseasesComputational and statistical approaches to analyzing variants identified by exome sequencingRecurrent SETBP1 mutations in atypical chronic myeloid leukemiaNext-Generation Sequencing in Intellectual DisabilityEvaluation of a father and son with atypical chronic myeloid leukemia with SETBP1 mutations and a review of the literatureDYNC2LI1 mutations broaden the clinical spectrum of dynein-2 defectsWhole-exome sequencing reveals LRP5 mutations and canonical Wnt signaling associated with hepatic cystogenesisDe novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndromePost-zygotic Point Mutations Are an Underrecognized Source of De Novo Genomic VariationMultiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disordersExome sequencing identifies WDR35 variants involved in Sensenbrenner syndromeCharacterization of spectrum, de novo rate and genotype-phenotype correlation of dominant GJB2 mutations in Chinese hansGenomics really gets personal: how exome and whole genome sequencing challenge the ethical framework of human genetics researchNext-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effectsAnnotate-it: a Swiss-knife approach to annotation, analysis and interpretation of single nucleotide variation in human diseaseExome sequencing: a transformative technologySporadic autism exomes reveal a highly interconnected protein network of de novo mutationsMassively parallel sequencing and rare disease.Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - expanding the phenotypes associated with EFTUD2 mutations.Impact of the next-generation sequencing data depth on various biological result inferences.Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome.The struggle to find reliable results in exome sequencing data: filtering out Mendelian errors.Integrating multiple genomic data to predict disease-causing nonsynonymous single nucleotide variants in exome sequencing studies.A unified test of linkage analysis and rare-variant association for analysis of pedigree sequence data.cnvOffSeq: detecting intergenic copy number variation using off-target exome sequencing data
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P2860
De novo mutations of SETBP1 cause Schinzel-Giedion syndrome.
description
2010 nî lūn-bûn
@nan
2010年の論文
@ja
2010年学术文章
@wuu
2010年学术文章
@zh-cn
2010年学术文章
@zh-hans
2010年学术文章
@zh-my
2010年学术文章
@zh-sg
2010年學術文章
@yue
2010年學術文章
@zh
2010年學術文章
@zh-hant
name
De novo mutations of SETBP1 cause Schinzel-Giedion syndrome.
@en
De novo mutations of SETBP1 cause Schinzel-Giedion syndrome.
@nl
type
label
De novo mutations of SETBP1 cause Schinzel-Giedion syndrome.
@en
De novo mutations of SETBP1 cause Schinzel-Giedion syndrome.
@nl
prefLabel
De novo mutations of SETBP1 cause Schinzel-Giedion syndrome.
@en
De novo mutations of SETBP1 cause Schinzel-Giedion syndrome.
@nl
P2093
P2860
P50
P356
P1433
P1476
De novo mutations of SETBP1 cause Schinzel-Giedion syndrome.
@en
P2093
Alex Henderson
Alexa Kidd
Anne Turner
Bart van Lier
Bert B A de Vries
Bregje W M van Bon
Christina Oley
Elizabeth M Thompson
Han G Brunner
Ian M Hayes
P2860
P2888
P304
P356
10.1038/NG.581
P407
P577
2010-05-02T00:00:00Z
P5875
P6179
1021369761