(Q34382912)

1 August 2017

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

1 reference

1 August 2017

0 references

1

1 reference

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

1 reference

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

1 reference

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

5 June 2020

author name string

Bahareh Rabbani

1

1 reference

1 August 2017

Nejat Mahdieh

3

1 reference

1 August 2017

7 November 2013

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Journal of Human Genetics

1 August 2017

1 reference

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

1 reference

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

1 reference

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

5 June 2020

page(s)

5-15

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https://scigraph.springernature.com/pub.10.1038/jhg.2013.114

5 June 2020

exact match

0 references

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A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms

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

21 January 2018

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What can exome sequencing do for you?

21 January 2018

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Molecular signals of epigenetic states

21 January 2018

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Exome sequencing: a transformative technology

21 January 2018

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A map of human genome variation from population-scale sequencing

21 January 2018

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Next-generation sequencing: impact of exome sequencing in characterizing Mendelian disorders

21 January 2018

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Targeted capture and massively parallel sequencing of 12 human exomes

21 January 2018

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Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

21 January 2018

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A new ocular phenotype associated with an unexpected but known systemic disorder and mutation: novel use of genomic diagnostics and exome sequencing.

21 January 2018

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Homozygosity mapping and whole-exome sequencing to detect SLC45A2 and G6PC3 mutations in a single patient with oculocutaneous albinism and neutropenia

21 January 2018

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Massively parallel sequencing of ataxia genes after array-based enrichment

21 January 2018

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High-quality DNA sequence capture of 524 disease candidate genes

21 January 2018

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Targeted next-generation sequencing for the molecular genetic diagnostics of cardiomyopathies.

21 January 2018

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Targeted polymerase chain reaction-based enrichment and next generation sequencing for diagnostic testing of congenital disorders of glycosylation

21 January 2018

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Revisiting Mendelian disorders through exome sequencing

21 January 2018

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Genetic diagnosis of neuroacanthocytosis disorders using exome sequencing

21 January 2018

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

21 January 2018

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Molecular diagnosis of neonatal diabetes mellitus using next-generation sequencing of the whole exome.

21 January 2018

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Noninvasive prenatal diagnosis of fetal chromosomal aneuploidy by massively parallel genomic sequencing of DNA in maternal plasma

21 January 2018

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Noninvasive prenatal diagnosis of fetal trisomy 18 and trisomy 13 by maternal plasma DNA sequencing

21 January 2018

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Optimal detection of fetal chromosomal abnormalities by massively parallel DNA sequencing of cell-free fetal DNA from maternal blood

21 January 2018

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

21 January 2018

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

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

21 January 2018

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

Newborn hearing screening--a silent revolution

21 January 2018

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Nuclear and mitochondrial genes mutated in nonsyndromic impaired hearing

21 January 2018

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

21 January 2018

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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.

21 January 2018

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

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

21 January 2018

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

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

21 January 2018

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

Genetic evaluation of intellectual disabilities

21 January 2018

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Evaluation of mental retardation: recommendations of a Consensus Conference: American College of Medical Genetics

21 January 2018

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Genetics and pathophysiology of mental retardation

21 January 2018

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Truncating neurotrypsin mutation in autosomal recessive nonsyndromic mental retardation

21 January 2018

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

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/10.1038%2FJHG.2013.114

Mutations in GNAL cause primary torsion dystonia

21 January 2018

1 reference

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

Exome sequencing identifies FUS mutations as a cause of essential tremor

21 January 2018

1 reference

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

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

Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration

21 January 2018

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

RAD51 haploinsufficiency causes congenital mirror movements in humans

21 January 2018

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Exome sequencing in a family with restless legs syndrome.

21 January 2018

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Molecular genetic studies of complex phenotypes

21 January 2018

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Common vs. rare allele hypotheses for complex diseases

21 January 2018

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Genomics of Cardiovascular Disease

21 January 2018

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The Genetic Basis for Cardiomyopathy

21 January 2018

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Clinical utility of genetic tests for inherited hypertrophic and dilated cardiomyopathies.

21 January 2018

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Next generation sequencing for clinical diagnostics-principles and application to targeted resequencing for hypertrophic cardiomyopathy: a paper from the 2009 William Beaumont Hospital Symposium on Molecular Pathology

21 January 2018

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The genetics of dilated cardiomyopathy

21 January 2018

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Exome sequencing, ANGPTL3 mutations, and familial combined hypolipidemia

21 January 2018

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

Identification by whole-genome resequencing of gene defect responsible for severe hypercholesterolemia

21 January 2018

1 reference

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

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/10.1038%2FJHG.2013.114

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

21 January 2018

1 reference

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

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/10.1038%2FJHG.2013.114

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

Exome localization of complex disease association signals.

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

Exome sequencing reveals comprehensive genomic alterations across eight cancer cell lines

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

Signatures of mutation and selection in the cancer genome

21 January 2018

1 reference

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

Systematic sequencing of renal carcinoma reveals inactivation of histone modifying genes

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

Exome sequencing identifies recurrent somatic RAC1 mutations in melanoma

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

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Human Variome Project: an international collaboration to catalogue human genetic variation

21 January 2018

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Recommendations of the 2006 Human Variome Project meeting

21 January 2018

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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.

21 January 2018

1 reference

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

Opportunities and challenges for the integration of massively parallel genomic sequencing into clinical practice: lessons from the ClinSeq project

21 January 2018

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

The ClinSeq Project: piloting large-scale genome sequencing for research in genomic medicine

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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/10.1038%2FJHG.2013.114

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

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

Mutations in the glycosylphosphatidylinositol gene PIGL cause CHIME syndrome

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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/10.1038%2FJHG.2013.114

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/10.1038%2FJHG.2013.114

Whole exome sequencing identifies a novel DFNA9 mutation, C162Y.

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

Mutation in TECPR2 reveals a role for autophagy in hereditary spastic paraparesis

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

Exome sequencing identifies PDE4D mutations as another cause of acrodysostosis

21 January 2018

1 reference

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

De novo mutations in MLL cause Wiedemann-Steiner syndrome

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

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

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

12 December 2020

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

1 reference

12 December 2020

Deep sequencing of patient genomes for disease diagnosis: when will it become routine?

1 reference

12 December 2020

Exome sequencing of liver fluke-associated cholangiocarcinoma

1 reference

12 December 2020