(Q21090627)

3

Mona

Sheikh

1 reference

10 August 2022

Clement Chu

5

Clement

Chu

1 reference

10 August 2022

Marta Zaks

6

Marta

Zaks

1 reference

10 August 2022

Balaji Srinivasan

7

Balaji

Srinivasan

1 reference

10 August 2022

Jodi D Hoffman

8

Jodi D

Hoffman

1 reference

10 August 2022

Dror Aizenbud

9

Dror

Creative Commons Attribution 4.0 International

Aizenbud

1 reference

10 August 2022

language of work or name

English

0 references

publication date

2014

0 references

published in

PLOS One

0 references

volume

9

0 references

issue

5

0 references

page(s)

e96788

0 references

copyright license

start time

9 May 2014

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

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19 March 2017

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Exome sequencing and disease-network analysis of a single family implicate a mutation in KIF1A in hereditary spastic paraparesis

19 March 2017

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19 March 2017

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The UCSC Genome Browser database: update 2011

19 March 2017

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Signatures of founder effects, admixture, and selection in the Ashkenazi Jewish population

19 March 2017

1 reference

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Targeted capture and massively parallel sequencing of 12 human exomes

19 March 2017

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The consensus coding sequence (CCDS) project: Identifying a common protein-coding gene set for the human and mouse genomes

19 March 2017

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Fast and accurate short read alignment with Burrows-Wheeler transform

19 March 2017

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Ultrafast and memory-efficient alignment of short DNA sequences to the human genome

19 March 2017

1 reference

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A novel dominant negative mutation of OTX2 associated with combined pituitary hormone deficiency

19 March 2017

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PLINK: a tool set for whole-genome association and population-based linkage analyses

19 March 2017

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The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

19 March 2017

1 reference

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The Sequence Alignment/Map format and SAMtools

19 March 2017

1 reference

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

19 March 2017

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Primer3 on the WWW for general users and for biologist programmers

19 March 2017

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BEDTools: a flexible suite of utilities for comparing genomic features

19 March 2017

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Systematic localization of common disease-associated variation in regulatory DNA

7 April 2017

1 reference

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Computational tools for prioritizing candidate genes: boosting disease gene discovery

7 April 2017

1 reference

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Exome sequencing and the genetic basis of complex traits

12 September 2017

1 reference

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lobSTR: A short tandem repeat profiler for personal genomes

12 September 2017

1 reference

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BioQ: tracing experimental origins in public genomic databases using a novel data provenance model

12 September 2017

1 reference

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OTX2 directly activates cell cycle genes and inhibits differentiation in medulloblastoma cells

12 September 2017

1 reference

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The functional spectrum of low-frequency coding variation

12 September 2017

1 reference

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GEP100-Arf6-AMAP1-cortactin pathway frequently used in cancer invasion is activated by VEGFR2 to promote angiogenesis

12 September 2017

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Characterising and predicting haploinsufficiency in the human genome.

12 September 2017

1 reference

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Medulloblastoma comprises four distinct molecular variants

12 September 2017

1 reference

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Targeted exon sequencing by in-solution hybrid selection

12 September 2017

1 reference

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

12 September 2017

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ToppGene Suite for gene list enrichment analysis and candidate gene prioritization

12 September 2017

1 reference

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Oculoauriculovertebral spectrum: report of nine familial cases with evidence of autosomal dominant inheritance and review of the literature

12 September 2017

1 reference

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Population analysis of large copy number variants and hotspots of human genetic disease

12 September 2017

1 reference

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A large-scale analysis of tissue-specific pathology and gene expression of human disease genes and complexes

12 September 2017

1 reference

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Integrated genotype calling and association analysis of SNPs, common copy number polymorphisms and rare CNVs

12 September 2017

1 reference

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The modular nature of genetic diseases.

12 September 2017

1 reference

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Temporal and spatial delineation of mouse Otx2 functions by conditional self-knockout

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4016008

Gene prioritization through genomic data fusion

12 September 2017

1 reference

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Townes-Brocks syndrome versus expanded spectrum hemifacial microsomia: review of eight patients and further evidence of a "hot spot" for mutation in the SALL1 gene

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4016008

Extreme elevation of maternal serum alpha-fetoprotein associated with mosaic trisomy 8 in a liveborn

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4016008

Hemifacial microsomia and variants: pedigree data

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4016008

The aetiology and pathogenesis of craniofacial deformity

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4016008

Oculoauriculovertebral spectrum: an updated critique

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4016008

Trisomy 22 and facioauriculovertebral (Goldenhar) sequence

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4016008

Oculoauriculovertebral anomaly: segregation analysis

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4016008

Demographic and reproductive factors associated with hemifacial microsomia.

27 September 2017

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0096788

Genome-wide scanning reveals complex etiology of oculo-auriculo-vertebral spectrum.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0096788

The causality of de novo copy number variants is overestimated

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0096788

Branchiootorenal syndrome and oculoauriculovertebral spectrum features associated with duplication of SIX1, SIX6, and OTX2 resulting from a complex chromosomal rearrangement.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0096788

Pericentric inversion, inv(14)(p11.2q22.3), in a 9-month old with features of Goldenhar syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0096788

Mouse Otx2 functions in the formation and patterning of rostral head.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0096788

OTX2 mutations contribute to the otocephaly-dysgnathia complex.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0096788

Deletion at 14q22-23 indicates a contiguous gene syndrome comprising anophthalmia, pituitary hypoplasia, and ear anomalies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0096788

Goldenhar syndrome and medulloblastoma: a coincidental association? The first case report.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4016008

Genetic modifiers of otocephalic phenotypes in Otx2 heterozygous mutant mice.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4016008

Hemifacial microsomia in two patients further supporting chromosomal mosaicism as a causative factor

29 November 2018

1 reference

12 December 2020

Hemifacial microsomia: progress in understanding the genetic basis of a complex malformation syndrome

1 reference

12 December 2020

Relation between oculo-auriculo-vertebral (OAV) dysplasia and three other non-random associations of malformations (VATER, CHARGE, and OEIS)

1 reference

12 December 2020

Trisomy 7 mosaicism and manifestations of Goldenhar syndrome with unilateral radial hypoplasia

1 reference

12 December 2020

Goldenhar sequence and mosaic trisomy 22

1 reference

12 December 2020

Trisomy 10p with clinical features of facio-auriculo-vertebral spectrum: a case report

1 reference

12 December 2020

A text-mining analysis of the human phenome

1 reference

12 December 2020

Array-CGH analysis of a cohort of 86 patients with oculoauriculovertebral spectrum

1 reference

12 December 2020

Genome-wide association study to identify genetic variants present in Japanese patients harboring intracranial aneurysms

1 reference

12 December 2020

Autosomal dominant oculoauriculovertebral spectrum and 14q23.1 microduplication

1 reference

12 December 2020

10.1371/JOURNAL.PONE.0096788

Identifiers

DOI

1 reference

1971296

ADS bibcode

2014PLoSO...996788Z

0 references

1971296

1 reference

1 reference

1 reference