(Q46689496)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25219469%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

title

Integrated sequence analysis pipeline provides one-stop solution for identifying disease-causing mutations (English)

1 reference

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16 February 2020

4

1 reference

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16 February 2020

Hossein Najmabadi

6

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16 February 2020

Kimia Kahrizi

5

1 reference

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16 February 2020

author name string

Hao Hu

1

1 reference

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16 February 2020

Thomas F Wienker

2

1 reference

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16 February 2020

Luciana Musante

3

1 reference

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16 February 2020

H Hilger Ropers

7

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16 February 2020

publication date

1 December 2014

1 reference

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16 February 2020

1 reference

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16 February 2020

volume

35

1 reference

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16 February 2020

issue

12

1 reference

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16 February 2020

page(s)

1427-1435

1 reference

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CNVnator: an approach to discover, genotype, and characterize typical and atypical CNVs from family and population genome sequencing

16 February 2020

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22695

A method and server for predicting damaging missense mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22695

An integrated map of genetic variation from 1,092 human genomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22695

De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22695

Exome sequencing as a tool for Mendelian disease gene discovery

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22695

Early frameshift mutation in PIGA identified in a large XLID family without neonatal lethality

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22695

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22695

Rare-disease genetics in the era of next-generation sequencing: discovery to translation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22695

Functional annotations improve the predictive score of human disease-related mutations in proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22695

The Sanger FASTQ file format for sequences with quality scores, and the Solexa/Illumina FASTQ variants

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22695

Identifying a high fraction of the human genome to be under selective constraint using GERP++.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22695

A 3-base pair deletion, c.9711_9713del, in DMD results in intellectual disability without muscular dystrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22695

A framework for variation discovery and genotyping using next-generation DNA sequencing data

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22695

A Novel SLC6A8 Mutation in a Large Family with X-Linked Intellectual Disability: Clinical and Proton Magnetic Resonance Spectroscopy Data of Both Hemizygous Males and Heterozygous Females

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22695

Base-calling of automated sequencer traces using phred. II. Error probabilities

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22695

Predicting the functional consequences of non-synonymous DNA sequence variants--evaluation of bioinformatics tools and development of a consensus strategy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22695

Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22695

Improving the assessment of the outcome of nonsynonymous SNVs with a consensus deleteriousness score, Condel.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22695

Amino acid difference formula to help explain protein evolution

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22695

ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22695

ST3GAL3 mutations impair the development of higher cognitive functions.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22695

Mutation screening in 86 known X-linked mental retardation genes by droplet-based multiplex PCR and massive parallel sequencing.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22695

A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22695

Next generation sequencing in a family with autosomal recessive Kahrizi syndrome (OMIM 612713) reveals a homozygous frameshift mutation in SRD5A3

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22695

A general framework for estimating the relative pathogenicity of human genetic variants

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22695

VarScan: variant detection in massively parallel sequencing of individual and pooled samples

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22695

Automated inference of molecular mechanisms of disease from amino acid substitutions.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22695

SOAP2: an improved ultrafast tool for short read alignment

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22695

A combined functional annotation score for non-synonymous variants

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22695

Target-enrichment strategies for next-generation sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22695

Expanding the clinical phenotype of patients with a ZDHHC9 mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22695

Deep sequencing reveals 50 novel genes for recessive cognitive disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22695

SIFT: Predicting amino acid changes that affect protein function

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22695

Low concordance of multiple variant-calling pipelines: practical implications for exome and genome sequencing.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22695

Mutation of the conserved polyadenosine RNA binding protein, ZC3H14/dNab2, impairs neural function in Drosophila and humans

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22695

X-exome sequencing in Finnish families with intellectual disability--four novel mutations and two novel syndromic phenotypes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22695

Detection of nonneutral substitution rates on mammalian phylogenies

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22695

A novel ALDH5A1 mutation is associated with succinic semialdehyde dehydrogenase deficiency and severe intellectual disability in an Iranian family.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22695

Mutations in the alpha 1,2-mannosidase gene, MAN1B1, cause autosomal-recessive intellectual disability.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22695

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22695

Identification of a novel candidate gene for non-syndromic autosomal recessive intellectual disability: the WASH complex member SWIP.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22695

Genetics of Early Onset Cognitive Impairment

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22695

Next-generation sequencing identifies mutations of SMPX, which encodes the small muscle protein, X-linked, as a cause of progressive hearing impairment

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22695

MutationTaster evaluates disease-causing potential of sequence alterations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22695

dbSNP: the NCBI database of genetic variation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22695

eXtasy: variant prioritization by genomic data fusion.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22695

A de novo paradigm for mental retardation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22695

Pindel: a pattern growth approach to detect break points of large deletions and medium sized insertions from paired-end short reads

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22695

Using whole-exome sequencing to identify inherited causes of autism

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22695

Mutation of plasma membrane Ca2+ ATPase isoform 3 in a family with X-linked congenital cerebellar ataxia impairs Ca2+ homeostasis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22695

Novel GDI1 mutation in a large family with nonsyndromic X-linked intellectual disability

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22695

Clinical and neurocognitive characterization of a family with a novel MED12 gene frameshift mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22695

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1002/HUMU.22695

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25219469%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

1 reference