(Q55618045)

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PECONPI: a novel software for uncovering pathogenic copy number variations in non-syndromic sensorineural hearing loss and other genetically heterogeneous disorders.

scientific article published on 29 July 2013

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Europe PubMed Central

PMC publication ID

18 July 2018

http://europepmc.org/abstract/PMC/3745548

PECONPI: a novel software for uncovering pathogenic copy number variations in non-syndromic sensorineural hearing loss and other genetically heterogeneous disorders. (English)

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Europe PubMed Central

PMC publication ID

18 July 2018

http://europepmc.org/abstract/PMC/3745548

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based on heuristic

inferred from title

sensorineural hearing loss

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based on heuristic

inferred from title

4

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Europe PubMed Central

PMC publication ID

18 July 2018

http://europepmc.org/abstract/PMC/3745548

Lauren J. Francey

5

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Europe PubMed Central

PMC publication ID

18 July 2018

http://europepmc.org/abstract/PMC/3745548

Hakon Hakonarson

15

object named as

Hakon Hakonarson

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Europe PubMed Central

PMC publication ID

18 July 2018

http://europepmc.org/abstract/PMC/3745548

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Ellen A Tsai

1

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Europe PubMed Central

PMC publication ID

18 July 2018

http://europepmc.org/abstract/PMC/3745548

Micah A Berman

2

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PMC publication ID

18 July 2018

http://europepmc.org/abstract/PMC/3745548

Laura K Conlin

3

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PMC publication ID

18 July 2018

http://europepmc.org/abstract/PMC/3745548

Matthew A Deardorff

6

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PMC publication ID

18 July 2018

http://europepmc.org/abstract/PMC/3745548

Jenelle Holst

7

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18 July 2018

http://europepmc.org/abstract/PMC/3745548

Maninder Kaur

8

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18 July 2018

http://europepmc.org/abstract/PMC/3745548

Emily Gallant

9

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Europe PubMed Central

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18 July 2018

http://europepmc.org/abstract/PMC/3745548

Dinah M Clark

10

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Europe PubMed Central

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18 July 2018

http://europepmc.org/abstract/PMC/3745548

Joseph T Glessner

11

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Europe PubMed Central

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18 July 2018

http://europepmc.org/abstract/PMC/3745548

Shane T Jensen

12

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18 July 2018

http://europepmc.org/abstract/PMC/3745548

Struan F A Grant

13

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Europe PubMed Central

PMC publication ID

18 July 2018

http://europepmc.org/abstract/PMC/3745548

Peter J Gruber

14

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Europe PubMed Central

PMC publication ID

18 July 2018

http://europepmc.org/abstract/PMC/3745548

Nancy B Spinner

16

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Europe PubMed Central

PMC publication ID

18 July 2018

http://europepmc.org/abstract/PMC/3745548

Ian D Krantz

17

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18 July 2018

http://europepmc.org/abstract/PMC/3745548

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publication date

29 July 2013

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Europe PubMed Central

PMC publication ID

18 July 2018

http://europepmc.org/abstract/PMC/3745548

American Journal of Medical Genetics

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Europe PubMed Central

PMC publication ID

18 July 2018

http://europepmc.org/abstract/PMC/3745548

161A

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Europe PubMed Central

PMC publication ID

18 July 2018

http://europepmc.org/abstract/PMC/3745548

9

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PMC publication ID

18 July 2018

http://europepmc.org/abstract/PMC/3745548

2134-2147

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Europe PubMed Central

PMC publication ID

18 July 2018

http://europepmc.org/abstract/PMC/3745548

Accurate distinction of pathogenic from benign CNVs in mental retardation

1 reference

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Mutations in LOXHD1, an evolutionarily conserved stereociliary protein, disrupt hair cell function in mice and cause progressive hearing loss in humans

1 reference

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De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot

1 reference

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High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications.

1 reference

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27 July 2018

A homozygous deletion of a normal variation locus in a patient with hearing loss from non-consanguineous parents

1 reference

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27 July 2018

Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia

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Structural variation of chromosomes in autism spectrum disorder

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Association between microdeletion and microduplication at 16p11.2 and autism

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22q11.2 distal deletion: a recurrent genomic disorder distinct from DiGeorge syndrome and velocardiofacial syndrome

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Array-based DNA diagnostics: let the revolution begin

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27 July 2018

PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data

1 reference

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Major changes in our DNA lead to major changes in our thinking

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Mutations in a new member of the chromodomain gene family cause CHARGE syndrome

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27 July 2018

Detection of large-scale variation in the human genome

1 reference

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27 July 2018

Large-scale copy number polymorphism in the human genome

1 reference

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Identification of 51 novel exons of the Usher syndrome type 2A (USH2A) gene that encode multiple conserved functional domains and that are mutated in patients with Usher syndrome type II

1 reference

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27 July 2018

Non-syndromic recessive auditory neuropathy is the result of mutations in the otoferlin (OTOF) gene

1 reference

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27 July 2018

Caspr2, a new member of the neurexin superfamily, is localized at the juxtaparanodes of myelinated axons and associates with K+ channels

1 reference

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Primer3 on the WWW for general users and for biologist programmers

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3745548

27 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3745548

27 July 2018

A deleterious mutation in the LOXHD1 gene causes autosomal recessive hearing loss in Ashkenazi Jews.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3745548

12 August 2018

Microdeletion of 17q22q23.2 encompassing TBX2 and TBX4 in a patient with congenital microcephaly, thyroid duct cyst, sensorineural hearing loss, and pulmonary hypertension.

1 reference

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12 August 2018

Five novel loci for inherited hearing loss mapped by SNP-based homozygosity profiles in Palestinian families

1 reference

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12 August 2018

Breaking the waves: improved detection of copy number variation from microarray-based comparative genomic hybridization.

1 reference

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A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort

1 reference

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Copy number variations and clinical cytogenetic diagnosis of constitutional disorders

1 reference

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12 August 2018

Strong association of de novo copy number mutations with autism

1 reference

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12 August 2018

QuantiSNP: an Objective Bayes Hidden-Markov Model to detect and accurately map copy number variation using SNP genotyping data

1 reference

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12 August 2018

Mapping autism risk loci using genetic linkage and chromosomal rearrangements

1 reference

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12 August 2018

Whole genome genotyping technologies on the BeadArray platform

1 reference

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12 August 2018

Global variation in copy number in the human genome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3745548

12 August 2018

Genome-wide detection of human copy number variations using high-density DNA oligonucleotide arrays

1 reference

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Supporting sensory transduction: cochlear fluid homeostasis and the endocochlear potential

1 reference

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12 August 2018

Common deletion polymorphisms in the human genome.

1 reference

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Fine-scale structural variation of the human genome

1 reference

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12 August 2018

Juxtaparanodal clustering of Shaker-like K+ channels in myelinated axons depends on Caspr2 and TAG-1

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12 August 2018

Substitutions in the conserved C2C domain of otoferlin cause DFNB9, a form of nonsyndromic autosomal recessive deafness

1 reference

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Q829X, a novel mutation in the gene encoding otoferlin (OTOF), is frequently found in Spanish patients with prelingual non-syndromic hearing loss.

1 reference

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Otoancorin, an inner ear protein restricted to the interface between the apical surface of sensory epithelia and their overlying acellular gels, is defective in autosomal recessive deafness DFNB22.

1 reference

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1 reference

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12 August 2018

Mutations in a new gene encoding a protein of the hair bundle cause non-syndromic deafness at the DFNB16 locus

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1 reference

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12 August 2018

A novel mutation in a family with non-syndromic sensorineural hearing loss that disrupts the newly characterised OTOF long isoforms

1 reference

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12 August 2018

The human contactin-associated protein-like 2 gene (CNTNAP2) spans over 2 Mb of DNA at chromosome 7q35

1 reference

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12 August 2018

OTOF encodes multiple long and short isoforms: genetic evidence that the long ones underlie recessive deafness DFNB9.

1 reference

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12 August 2018

A sensorineural progressive autosomal recessive form of isolated deafness, DFNB13, maps to chromosome 7q34-q36.

1 reference

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12 August 2018

The mouse Snell's waltzer deafness gene encodes an unconventional myosin required for structural integrity of inner ear hair cells

1 reference

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12 August 2018

Genome-wide SNP genotyping identifies the Stereocilin (STRC) gene as a major contributor to pediatric bilateral sensorineural hearing impairment

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36038

21 January 2018

GATA4 haploinsufficiency in patients with interstitial deletion of chromosome region 8p23.1 and congenital heart disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/23897863

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A high-resolution survey of deletion polymorphism in the human genome

1 reference

https://pubmed.ncbi.nlm.nih.gov/23897863

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inferred from PubMed ID database lookup

Sensorineural deafness and male infertility: a contiguous gene deletion syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/23897863

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1002/AJMG.A.36038

1 reference

Europe PubMed Central

PMC publication ID

18 July 2018

http://europepmc.org/abstract/PMC/3745548

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

18 July 2018

http://europepmc.org/abstract/PMC/3745548

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

18 July 2018

http://europepmc.org/abstract/PMC/3745548

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