(Q38175288)

30 August 2017

Exome sequencing greatly expedites the progressive research of Mendelian diseases (English)

1 reference

30 August 2017

Xuejun Zhang

1

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30 August 2017

3 January 2014

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30 August 2017

Frontiers of medicine

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30 August 2017

8

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30 August 2017

1

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30 August 2017

42-57

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https://scigraph.springernature.com/pub.10.1007/s11684-014-0303-9

30 August 2017

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cites work

Targeted capture and massively parallel sequencing of 12 human exomes

1 reference

https://api.crossref.org/works/10.1007%2FS11684-014-0303-9

Exome sequencing identifies the cause of a mendelian disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11684-014-0303-9

Discovering genotypes underlying human phenotypes: past successes for mendelian disease, future approaches for complex disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11684-014-0303-9

CANDID: a flexible method for prioritizing candidate genes for complex human traits.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11684-014-0303-9

Mendelian Inheritance in Man and its online version, OMIM

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11684-014-0303-9

Performance comparison of exome DNA sequencing technologies

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11684-014-0303-9

Exome sequencing: the sweet spot before whole genomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11684-014-0303-9

Exome versus transcriptome sequencing in identifying coding region variants

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11684-014-0303-9

Virtual terminator nucleotides for next-generation DNA sequencing.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11684-014-0303-9

Real-time DNA sequencing from single polymerase molecules

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11684-014-0303-9

Disease gene identification strategies for exome sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11684-014-0303-9

Exome sequencing as a tool for Mendelian disease gene discovery

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11684-014-0303-9

What would you do if you could sequence everything?

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11684-014-0303-9

Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11684-014-0303-9

Integrating common and rare genetic variation in diverse human populations

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11684-014-0303-9

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11684-014-0303-9

Exome sequencing reveals VCP mutations as a cause of familial ALS

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11684-014-0303-9

TGM6 identified as a novel causative gene of spinocerebellar ataxias using exome sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11684-014-0303-9

Whole-genome sequencing of a single proband together with linkage analysis identifies a Mendelian disease gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11684-014-0303-9

Exome sequencing in Brown-Vialetto-van Laere syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11684-014-0303-9

Unexpected allelic heterogeneity and spectrum of mutations in Fowler syndrome revealed by next-generation exome sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11684-014-0303-9

Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11684-014-0303-9

Mutations in SCARF2 are responsible for Van Den Ende-Gupta syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11684-014-0303-9

Whole-exome sequencing-based discovery of STIM1 deficiency in a child with fatal classic Kaposi sarcoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11684-014-0303-9

Whole-exome-sequencing-based discovery of human FADD deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11684-014-0303-9

Whole exome sequencing and homozygosity mapping identify mutation in the cell polarity protein GPSM2 as the cause of nonsyndromic hearing loss DFNB82.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11684-014-0303-9

Exome sequencing, ANGPTL3 mutations, and familial combined hypolipidemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11684-014-0303-9

Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault Syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11684-014-0303-9

Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11684-014-0303-9

Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11684-014-0303-9

Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11684-014-0303-9

Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11684-014-0303-9

MASP1 mutations in patients with facial, umbilical, coccygeal, and auditory findings of Carnevale, Malpuech, OSA, and Michels syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11684-014-0303-9

De novo mutations of SETBP1 cause Schinzel-Giedion syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11684-014-0303-9

Terminal osseous dysplasia is caused by a single recurrent mutation in the FLNA gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11684-014-0303-9

Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11684-014-0303-9

Rapid identification of mutations in GJC2 in primary lymphoedema using whole exome sequencing combined with linkage analysis with delineation of the phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11684-014-0303-9

Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11684-014-0303-9

Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11684-014-0303-9

Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11684-014-0303-9

De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11684-014-0303-9

Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11684-014-0303-9

Recurrent dominant mutations affecting two adjacent residues in the motor domain of the monomeric kinesin KIF22 result in skeletal dysplasia and joint laxity

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11684-014-0303-9

Whole-exome sequencing identifies mutations of KIF22 in spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11684-014-0303-9

Mutations in DNAJC5, encoding cysteine-string protein alpha, cause autosomal-dominant adult-onset neuronal ceroid lipofuscinosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11684-014-0303-9

Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11684-014-0303-9

Exome sequencing identifies GATA-2 mutation as the cause of dendritic cell, monocyte, B and NK lymphoid deficiency.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11684-014-0303-9

A mutation in VPS35, encoding a subunit of the retromer complex, causes late-onset Parkinson disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11684-014-0303-9

VPS35 mutations in Parkinson disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11684-014-0303-9

Mutations in DNMT1 cause hereditary sensory neuropathy with dementia and hearing loss

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11684-014-0303-9

Genome-wide studies of copy number variation and exome sequencing identify rare variants in BAG3 as a cause of dilated cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11684-014-0303-9

Exome sequencing identifies ZNF644 mutations in high myopia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11684-014-0303-9

A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11684-014-0303-9

Exome sequencing identifies a DYNC1H1 mutation in a large pedigree with dominant axonal Charcot-Marie-Tooth disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11684-014-0303-9

Mutation in ribosomal protein L21 underlies hereditary hypotrichosis simplex

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11684-014-0303-9

Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11684-014-0303-9

Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11684-014-0303-9

Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11684-014-0303-9

Making a definitive diagnosis: successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11684-014-0303-9

Exome sequencing reveals a novel mutation for autosomal recessive non-syndromic mental retardation in the TECR gene on chromosome 19p13

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11684-014-0303-9

Whole-exome sequencing links a variant in DHDDS to retinitis pigmentosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11684-014-0303-9

Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfecta

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11684-014-0303-9

Whole-exome re-sequencing in a family quartet identifies POP1 mutations as the cause of a novel skeletal dysplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11684-014-0303-9

Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11684-014-0303-9

Whole-Exome sequencing identifies FAM20A mutations as a cause of amelogenesis imperfecta and gingival hyperplasia syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11684-014-0303-9

Chondrodysplasia and abnormal joint development associated with mutations in IMPAD1, encoding the Golgi-resident nucleotide phosphatase, gPAPP.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11684-014-0303-9

Exome sequencing and functional analysis identifies BANF1 mutation as the cause of a hereditary progeroid syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11684-014-0303-9

Exome sequencing identifies mitochondrial alanyl-tRNA synthetase mutations in infantile mitochondrial cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11684-014-0303-9

SHROOM3 is a novel candidate for heterotaxy identified by whole exome sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11684-014-0303-9

Mutations in CEP57 cause mosaic variegated aneuploidy syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11684-014-0303-9

Mutations in POLR3A and POLR3B encoding RNA Polymerase III subunits cause an autosomal-recessive hypomyelinating leukoencephalopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11684-014-0303-9

Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11684-014-0303-9

Homozygosity mapping and exome sequencing reveal GATAD1 mutation in autosomal recessive dilated cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11684-014-0303-9

XX ovarian dysgenesis is caused by a PSMC3IP/HOP2 mutation that abolishes coactivation of estrogen-driven transcription

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11684-014-0303-9

Exome sequencing identifies a novel missense variant in RRM2B associated with autosomal recessive progressive external ophthalmoplegia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11684-014-0303-9

Identification of ADAMTS18 as a gene mutated in Knobloch syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11684-014-0303-9

Exome sequencing reveals a homozygous SYT14 mutation in adult-onset, autosomal-recessive spinocerebellar ataxia with psychomotor retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11684-014-0303-9

Recessive mutations in DOCK6, encoding the guanidine nucleotide exchange factor DOCK6, lead to abnormal actin cytoskeleton organization and Adams-Oliver syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11684-014-0303-9

Recessive LAMC3 mutations cause malformations of occipital cortical development

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11684-014-0303-9

Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11684-014-0303-9

Exome sequencing identifies MRPL3 mutation in mitochondrial cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11684-014-0303-9

Exome sequencing and cis-regulatory mapping identify mutations in MAK, a gene encoding a regulator of ciliary length, as a cause of retinitis pigmentosa.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11684-014-0303-9

Exome sequencing identifies CCDC8 mutations in 3-M syndrome, suggesting that CCDC8 contributes in a pathway with CUL7 and OBSL1 to control human growth

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11684-014-0303-9

CEP152 is a genome maintenance protein disrupted in Seckel syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11684-014-0303-9

Adenosine kinase deficiency disrupts the methionine cycle and causes hypermethioninemia, encephalopathy, and abnormal liver function

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11684-014-0303-9

Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11684-014-0303-9

Recessive mutations in ELOVL4 cause ichthyosis, intellectual disability, and spastic quadriplegia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11684-014-0303-9

Genetic defect in CYP24A1, the vitamin D 24-hydroxylase gene, in a patient with severe infantile hypercalcemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11684-014-0303-9

Mutations in MEGF10, a regulator of satellite cell myogenesis, cause early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD)

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11684-014-0303-9

Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11684-014-0303-9

Mutations in ZBTB24 are associated with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11684-014-0303-9

Recessive mutations in KCNJ13, encoding an inwardly rectifying potassium channel subunit, cause leber congenital amaurosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11684-014-0303-9

Exome sequencing and disease-network analysis of a single family implicate a mutation in KIF1A in hereditary spastic paraparesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11684-014-0303-9

Rapid detection of a mutation causing X-linked leucoencephalopathy by exome sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11684-014-0303-9

De novo mutations of the gene encoding the histone acetyltransferase KAT6B cause Genitopatellar syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11684-014-0303-9

Mutations in KAT6B, encoding a histone acetyltransferase, cause Genitopatellar syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11684-014-0303-9

A mutation in the thyroid hormone receptor alpha gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11684-014-0303-9

Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11684-014-0303-9

Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11684-014-0303-9

Mutations in KIF11 cause autosomal-dominant microcephaly variably associated with congenital lymphedema and chorioretinopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11684-014-0303-9

RAD51 haploinsufficiency causes congenital mirror movements in humans

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11684-014-0303-9

Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11684-014-0303-9

Exome sequencing reveals DNAJB6 mutations in dominantly-inherited myopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11684-014-0303-9

Exome sequencing identifies autosomal-dominant SRP72 mutations associated with familial aplasia and myelodysplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11684-014-0303-9

Exome sequencing identifies PDE4D mutations in acrodysostosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11684-014-0303-9

Exome sequencing reveals mutations in TRPV3 as a cause of Olmsted syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11684-014-0303-9

Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11684-014-0303-9

Multicentric carpotarsal osteolysis is caused by mutations clustering in the amino-terminal transcriptional activation domain of MAFB.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11684-014-0303-9

Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11684-014-0303-9

Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11684-014-0303-9

Whole exome sequencing to identify a novel gene (caveolin-1) associated with human pulmonary arterial hypertension

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11684-014-0303-9

Genetic diagnosis of autosomal dominant polycystic kidney disease by targeted capture and next-generation sequencing: utility and limitations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11684-014-0303-9

Mutations in ANO3 cause dominant craniocervical dystonia: ion channel implicated in pathogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11684-014-0303-9

Defective presynaptic choline transport underlies hereditary motor neuropathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11684-014-0303-9

Whole exome sequencing identifies a novel DFNA9 mutation, C162Y.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11684-014-0303-9

Identification of mutations in the prostaglandin transporter gene SLCO2A1 and its phenotype-genotype correlation in Japanese patients with pachydermoperiostosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11684-014-0303-9

A mutation in the 5'-UTR of IFITM5 creates an in-frame start codon and causes autosomal-dominant osteogenesis imperfecta type V with hyperplastic callus

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11684-014-0303-9

Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11684-014-0303-9

Exome sequencing identifies a COL14A1 mutation in a large Chinese pedigree with punctate palmoplantar keratoderma

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11684-014-0303-9

Exome sequencing identified a missense mutation of EPS8L3 in Marie Unna hereditary hypotrichosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11684-014-0303-9

Exome sequencing identifies MVK mutations in disseminated superficial actinic porokeratosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11684-014-0303-9

Confirmation by exome sequencing of the pathogenic role of NCSTN mutations in acne inversa (hidradenitis suppurativa).

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11684-014-0303-9

Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11684-014-0303-9

Identification of a novel DLX5 mutation in a family with autosomal recessive split hand and foot malformation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11684-014-0303-9

Next generation sequencing identifies mutations in Atonal homolog 7 (ATOH7) in families with global eye developmental defects

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11684-014-0303-9

Exome sequencing identifies SLCO2A1 mutations as a cause of primary hypertrophic osteoarthropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11684-014-0303-9

Exome sequence identifies RIPK4 as the Bartsocas-Papas syndrome locus

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11684-014-0303-9

Exome sequencing identifies MPL as a causative gene in familial aplastic anemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11684-014-0303-9

Whole-exome sequencing in a single proband reveals a mutation in the CHST8 gene in autosomal recessive peeling skin syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11684-014-0303-9

Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11684-014-0303-9

DDOST mutations identified by whole-exome sequencing are implicated in congenital disorders of glycosylation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11684-014-0303-9

Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11684-014-0303-9

A truncating mutation of CEP135 causes primary microcephaly and disturbed centrosomal function

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11684-014-0303-9

Familial diarrhea syndrome caused by an activating GUCY2C mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11684-014-0303-9

Infantile cerebellar-retinal degeneration associated with a mutation in mitochondrial aconitase, ACO2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11684-014-0303-9

Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11684-014-0303-9

Mutations in CTC1, encoding the CTS telomere maintenance complex component 1, cause cerebroretinal microangiopathy with calcifications and cysts

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11684-014-0303-9

Mutations in ROGDI Cause Kohlschütter-Tönz Syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11684-014-0303-9

Mutations in UVSSA cause UV-sensitive syndrome and impair RNA polymerase IIo processing in transcription-coupled nucleotide-excision repair

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11684-014-0303-9

Exome sequencing identifies a founder frameshift mutation in an alternative exon of USH1C as the cause of autosomal recessive retinitis pigmentosa with late-onset hearing loss

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11684-014-0303-9

Loss-of-function mutations in HOXC13 cause pure hair and nail ectodermal dysplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11684-014-0303-9

Two novel CCDC88C mutations confirm the role of DAPLE in autosomal recessive congenital hydrocephalus

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11684-014-0303-9

CYP1B1, MYOC, and LTBP2 mutations in primary congenital glaucoma patients in the United States.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11684-014-0303-9

Molecular diagnosis of Usher syndrome: application of two different next generation sequencing-based procedures

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11684-014-0303-9

Recessive HYDIN mutations cause primary ciliary dyskinesia without randomization of left-right body asymmetry

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11684-014-0303-9

Molecular diagnosis of putative Stargardt Disease probands by exome sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11684-014-0303-9

Germline Mutation in EXPH5 Implicates the Rab27B Effector Protein Slac2-b in Inherited Skin Fragility

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11684-014-0303-9

Exome sequencing identifies a branch point variant in Aarskog-Scott syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11684-014-0303-9

Mutations in ATP1A3 cause alternating hemiplegia of childhood

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11684-014-0303-9

Description of a large family with autosomal dominant hypercholesterolemia associated with the APOE p.Leu167del mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11684-014-0303-9

Rapid gene identification in a Chinese osteopetrosis family by whole exome sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11684-014-0303-9

Mutation of the PDGFRB gene as a cause of idiopathic basal ganglia calcification

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11684-014-0303-9

Iron refractory iron deficiency anemia: presentation with hyperferritinemia and response to oral iron therapy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11684-014-0303-9

Using exome sequencing to reveal mutations in TREM2 presenting as a frontotemporal dementia-like syndrome without bone involvement

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11684-014-0303-9

Whole-exome sequencing identifies LRIT3 mutations as a cause of autosomal-recessive complete congenital stationary night blindness

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11684-014-0303-9

Whole exome sequencing identified a novel zinc-finger gene ZNF141 associated with autosomal recessive postaxial polydactyly type A

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11684-014-0303-9

Somatic gain-of-function mutations in PIK3CA in patients with macrodactyly

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11684-014-0303-9

Whole exome sequencing reveals uncommon mutations in the recently identified Fanconi anemia gene SLX4/FANCP.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11684-014-0303-9

A new locus for X-linked dominant Charcot-Marie-Tooth disease (CMTX6) is caused by mutations in the pyruvate dehydrogenase kinase isoenzyme 3 (PDK3) gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11684-014-0303-9

Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11684-014-0303-9

The diagnostic utility of exome sequencing in Joubert syndrome and related disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11684-014-0303-9

Exome sequencing makes medical genomics a reality

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11684-014-0303-9

Human genome sequencing in health and disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11684-014-0303-9

Exome sequencing: dual role as a discovery and diagnostic tool

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11684-014-0303-9

Comparison of three targeted enrichment strategies on the SOLiD sequencing platform

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11684-014-0303-9

A map of human genome variation from population-scale sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11684-014-0303-9

The diploid genome sequence of an individual human

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11684-014-0303-9

Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11684-014-0303-9

Exome sequencing identified MYO1E and NEIL1 as candidate genes for human autosomal recessive steroid-resistant nephrotic syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11684-014-0303-9

Whole-exome sequencing of a unique brain malformation with periventricular heterotopia, cingulate polymicrogyria and midbrain tectal hyperplasia.

21 January 2018

1 reference

12 December 2020

Clinical, in silico, and experimental evidence for pathogenicity of two novel splice site mutations in the SH3TC2 gene

1 reference

12 December 2020

Mutation of the CLN6 Gene in Teenage-Onset Progressive Myoclonus Epilepsy

1 reference

12 December 2020

Clinical and histopathological study of Charcot-Marie-Tooth neuropathy with a novel S90W mutation in BSCL2

1 reference

12 December 2020

Gene functional similarity search tool (GFSST)

1 reference

12 December 2020

10.1007/S11684-014-0303-9

Identifiers

DOI

1 reference

PubMed ID

24384736

Dimensions Publication ID

30 August 2017

0 references

1 reference

PubMed ID

24384736