The promise of whole-exome sequencing in medical genetics (Q34382912)

1 August 2017

title

The promise of whole-exome sequencing in medical genetics (English)

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1 August 2017

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1

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24196381%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

Mustafa Tekin

2

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24196381%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

Nejat Mahdieh

3

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5 June 2020

author name string

Bahareh Rabbani

1

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1 August 2017

Nejat Mahdieh

3

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1 August 2017

publication date

7 November 2013

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Journal of Human Genetics

1 August 2017

language of work or name

English

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published in

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24196381%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

volume

59

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24196381%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

issue

1

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5 June 2020

page(s)

5-15

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DNA sequencing with chain-terminating inhibitors

5 June 2020

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Carrier testing for severe childhood recessive diseases by next-generation sequencing

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DAXX/ATRX, MEN1, and mTOR pathway genes are frequently altered in pancreatic neuroendocrine tumors

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Newborn hearing screening--a silent revolution

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Genetic causes of nonsyndromic hearing loss in Iran in comparison with other populations

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

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Whole-exome sequencing efficiently detects rare mutations in autosomal recessive nonsyndromic hearing loss

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Truncating neurotrypsin mutation in autosomal recessive nonsyndromic mental retardation

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

21 January 2018

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Mutations in GNAL cause primary torsion dystonia

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Exome sequencing identifies FUS mutations as a cause of essential tremor

21 January 2018

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Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study

21 January 2018

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RAD51 haploinsufficiency causes congenital mirror movements in humans

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The genetic basis for cardiomyopathy: from mutation identification to mechanistic paradigms

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The genetics of dilated cardiomyopathy

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

21 January 2018

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

21 January 2018

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

21 January 2018

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KLHL3 mutations cause familial hyperkalemic hypertension by impairing ion transport in the distal nephron

21 January 2018

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Investigation of Mendelian forms of obesity holds out the prospect of personalized medicine

21 January 2018

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Exome localization of complex disease association signals.

21 January 2018

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Exome sequencing-driven discovery of coding polymorphisms associated with common metabolic phenotypes.

21 January 2018

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Exome sequencing identifies somatic mutations of DNA methyltransferase gene DNMT3A in acute monocytic leukemia

21 January 2018

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Exome Sequencing Reveals Comprehensive Genomic Alterations across Eight Cancer Cell Lines

21 January 2018

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A flexible and fully integrated system for amplification, detection and genotyping of genomic DNA targets based on microfluidic oligonucleotide arrays

21 January 2018

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Exome sequencing identifies frequent mutation of the SWI/SNF complex gene PBRM1 in renal carcinoma

21 January 2018

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CBL, CBLB, TET2, ASXL1, and IDH1/2 mutations and additional chromosomal aberrations constitute molecular events in chronic myelogenous leukemia.

21 January 2018

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Signatures of mutation and selection in the cancer genome

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Systematic sequencing of renal carcinoma reveals inactivation of histone modifying genes

21 January 2018

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Somatic mutations altering EZH2 (Tyr641) in follicular and diffuse large B-cell lymphomas of germinal-center origin

21 January 2018

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Exome sequencing identifies frequent mutation of ARID1A in molecular subtypes of gastric cancer

21 January 2018

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Exome sequencing identifies recurrent somatic RAC1 mutations in melanoma

21 January 2018

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Identification of somatic mutations in non-small cell lung carcinomas using whole-exome sequencing

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A Single-Nucleotide Substitution Mutator Phenotype Revealed by Exome Sequencing of Human Colon Adenomas

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High level of intrafamilial phenotypic variability of non-syndromic hearing loss in a Lur family due to delE120 mutation in GJB2 gene

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

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Informed consent for whole genome sequencing: a qualitative analysis of participant expectations and perceptions of risks, benefits, and harms

21 January 2018

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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

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Specific combination of compound heterozygous mutations in 17β-hydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiency

21 January 2018

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Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease

21 January 2018

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Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness.

21 January 2018

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GPSM2 mutations cause the brain malformations and hearing loss in Chudley-McCullough syndrome

21 January 2018

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Mutations in the glycosylphosphatidylinositol gene PIGL cause CHIME syndrome

21 January 2018

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Mutations in LOXHD1, a recessive-deafness locus, cause dominant late-onset Fuchs corneal dystrophy

21 January 2018

1 reference

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Mutations in DNMT1 cause autosomal dominant cerebellar ataxia, deafness and narcolepsy

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

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Whole exome sequencing identifies a novel DFNA9 mutation, C162Y

21 January 2018

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Defect in the gene encoding the EAR/EPTP domain-containing protein TSPEAR causes DFNB98 profound deafness

21 January 2018

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Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome

21 January 2018

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Mutation in TECPR2 Reveals a Role for Autophagy in Hereditary Spastic Paraparesis

21 January 2018

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Recurrent de novo mutations in PACS1 cause defective cranial-neural-crest migration and define a recognizable intellectual-disability syndrome

21 January 2018

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In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome

21 January 2018

1 reference

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Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation

21 January 2018

1 reference

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Exome sequencing identifies PDE4D mutations as another cause of acrodysostosis

21 January 2018

1 reference

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De novo mutations in MLL cause Wiedemann-Steiner syndrome

21 January 2018

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Mutation in RAB33B, which encodes a regulator of retrograde Golgi transport, defines a second Dyggve--Melchior--Clausen locus

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

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Mutations in DYNC1H1 cause severe intellectual disability with neuronal migration defects.

21 January 2018

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De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome

21 January 2018

1 reference

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Expanding the molecular basis and phenotypic spectrum of X-linked Joubert syndrome associated with OFD1 mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.114

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.114

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.114

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.114

A restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies Myhre syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.114

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/10.1038%2FJHG.2013.114

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.114

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/10.1038%2FJHG.2013.114

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/10.1038%2FJHG.2013.114

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/10.1038%2FJHG.2013.114

A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.114

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.114

Whole-exome sequencing identifies a mutation in the mitochondrial ribosome protein MRPL44 to underlie mitochondrial infantile cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.114

Mutations of the mitochondrial-tRNA modifier MTO1 cause hypertrophic cardiomyopathy and lactic acidosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.114

Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7 is caused by a DES mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.114

Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.114

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.114

Exome sequencing identifies MRPL3 mutation in mitochondrial cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.114

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.114

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.114

An X-linked channelopathy with cardiomegaly due to a CLIC2 mutation enhancing ryanodine receptor channel activity.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.114

Exome sequencing of prostate cancer supports the hypothesis of independent tumour origins

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.114

Exome sequencing identifies recurrent SPOP, FOXA1 and MED12 mutations in prostate cancer

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.114

Predisposition gene identification in common cancers by exome sequencing: insights from familial breast cancer

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.114

Exome sequencing identifies MXRA5 as a novel cancer gene frequently mutated in non-small cell lung carcinoma from Chinese patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.114

Whole-exome sequencing combined with functional genomics reveals novel candidate driver cancer genes in endometrial cancer.

21 January 2018

1 reference

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Exome sequencing of serous endometrial tumors identifies recurrent somatic mutations in chromatin-remodeling and ubiquitin ligase complex genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.114

Exome sequencing identifies rare deleterious mutations in DNA repair genes FANCC and BLM as potential breast cancer susceptibility alleles

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.114

Exome sequencing identifies GRIN2A as frequently mutated in melanoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.114

Exome sequencing of head and neck squamous cell carcinoma reveals inactivating mutations in NOTCH1

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2013.114

Exome sequencing of gastric adenocarcinoma identifies recurrent somatic mutations in cell adhesion and chromatin remodeling genes

21 January 2018

1 reference

PubMed

12 December 2020

Deep Sequencing of Patient Genomes for Disease Diagnosis: When Will It Become Routine?

1 reference

PubMed

12 December 2020

Exome sequencing of liver fluke-associated cholangiocarcinoma

1 reference

PubMed

12 December 2020