Challenges and solutions for gene identification in the presence of familial locus heterogeneity (Q35959689)

11 August 2017

Challenges and solutions for gene identification in the presence of familial locus heterogeneity (English)

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11 August 2017

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11 August 2017

Robert J Morell

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Kwanghyuk Lee

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Kwanghyuk Lee

University of Washington Center for Mendelian Genomics

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University of Washington Center for Mendelian Genomics

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11 August 2017

28

Thomas B Friedman

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11 August 2017

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Suzanne M Leal

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11 August 2017

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Deborah A Nickerson

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11 August 2017

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Saima Riazuddin

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11 August 2017

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Richard J H Smith

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11 August 2017

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Sheikh Riazuddin

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11 August 2017

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Shaheen N Khan

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11 August 2017

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Atteeq U Rehman

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11 August 2017

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Mohsin Shahzad

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11 August 2017

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A Eliot Shearer

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11 August 2017

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Khitab Gul

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11 August 2017

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Meghan C Drummond

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11 August 2017

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Michael J Bamshad

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11 August 2017

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Karen H Friderici

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11 August 2017

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Abid Jan

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11 August 2017

Regie Lyn P Santos-Cortez

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11 August 2017

Muhammad Ansar

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11 August 2017

Xin Wang

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11 August 2017

Abdul Aziz

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11 August 2017

Joshua D Smith

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11 August 2017

Gao T Wang

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11 August 2017

Zubair M Ahmed

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11 August 2017

John Hinnant

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11 August 2017

Rachel A Fisher

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11 August 2017

Wasim Ahmad

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11 August 2017

Ellen S Wilch

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11 August 2017

10 December 2014

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European Journal of Human Genetics

11 August 2017

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11 August 2017

23

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9

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11 August 2017

1207-1215

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Adenylate cyclase 1 (ADCY1) mutations cause recessive hearing impairment in humans and defects in hair cell function and hearing in zebrafish

11 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4538203

Mutations in TBC1D24, a gene associated with epilepsy, also cause nonsyndromic deafness DFNB86.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4538203

Clinical whole-exome sequencing for the diagnosis of mendelian disorders

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4538203

Mutations in KARS, encoding lysyl-tRNA synthetase, cause autosomal-recessive nonsyndromic hearing impairment DFNB89

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4538203

Linkage analysis of a large African family segregating stuttering suggests polygenic inheritance

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4538203

Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4538203

Genetic Mapping and Exome Sequencing Identify Variants Associated with Five Novel Diseases

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4538203

Disease gene identification strategies for exome sequencing

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4538203

Comprehensive genetic testing for hereditary hearing loss using massively parallel sequencing.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4538203

MutationTaster evaluates disease-causing potential of sequence alterations

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4538203

A novel DFNB1 deletion allele supports the existence of a distant cis-regulatory region that controls GJB2 and GJB6 expression.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4538203

Targeted capture and next-generation sequencing identifies C9orf75, encoding taperin, as the mutated gene in nonsyndromic deafness DFNB79

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4538203

Exome sequencing identifies the cause of a mendelian disorder

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4538203

Noncoding mutations of HGF are associated with nonsyndromic hearing loss, DFNB39.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4538203

Hypo-functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: genotype-phenotype correlation or coincidental polymorphisms?

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4538203

Mutations of the RDX gene cause nonsyndromic hearing loss at the DFNB24 locus

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4538203

GJB2 mutations and degree of hearing loss: a multicenter study

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4538203

Novel sequence variants in the TMC1 gene in Pakistani families with autosomal recessive hearing impairment.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4538203

Sequence-based linkage analysis

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4538203

Merlin--rapid analysis of dense genetic maps using sparse gene flow trees

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4538203

Allegro, a new computer program for multipoint linkage analysis

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4538203

A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4538203

Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4538203

A gene for congenital, recessive deafness DFNB3 maps to the pericentromeric region of chromosome 17.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4538203

Genetic dissection of complex traits: guidelines for interpreting and reporting linkage results

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4538203

Strategies for multilocus linkage analysis in humans

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4538203

Computer-simulation methods in human linkage analysis

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4538203

Reducing the exome search space for mendelian diseases using genetic linkage analysis of exome genotypes

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4538203

HomozygosityMapper--an interactive approach to homozygosity mapping

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4538203

Mutations in the connexin 26 gene (GJB2) among Ashkenazi Jews with nonsyndromic recessive deafness

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4538203

Exact genetic linkage computations for general pedigrees

27 July 2018

1 reference

https://api.crossref.org/works/10.1038/EJHG.2014.266

SLC26A4 mutation spectrum associated with DFNB4 deafness and Pendred's syndrome in Pakistanis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038/EJHG.2014.266

Mutation spectrum of MYO7A and evaluation of a novel nonsyndromic deafness DFNB2 allele with residual function

21 January 2018

1 reference

https://api.crossref.org/works/10.1038/EJHG.2014.266

Mutations in the lipoma HMGIC fusion partner-like 5 (LHFPL5) gene cause autosomal recessive nonsyndromic hearing loss

21 January 2018

1 reference

https://api.crossref.org/works/10.1038/EJHG.2014.266

21 January 2018

Identifiers

DOI

10.1038/EJHG.2014.266

1 reference

11 August 2017

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11 August 2017

PubMed publication ID

25491636

1 reference