(Q35050303)

English

Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies

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scholarly article

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Europe PubMed Central

PubMed publication ID

6 August 2017

Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies (English)

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6 August 2017

Gudrun Nürnberg

30

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Gudrun Nürnberg

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Peter Charbel Issa

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Peter Charbel Issa

9

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Peter Nürnberg

object named as

Peter Nürnberg

31

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6 August 2017

10

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Frank G Holz

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6 August 2017

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Bernd Wollnik

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6 August 2017

11

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Shahid M Baig

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6 August 2017

author name string

Tobias Eisenberger

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6 August 2017

Christine Neuhaus

2

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6 August 2017

Arif O Khan

3

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6 August 2017

Christian Decker

4

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6 August 2017

Markus N Preising

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Christoph Friedburg

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Anika Bieg

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Martin Gliem

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Yorck Hellenbroich

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Alberto Galvez

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Konrad Platzer

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Nadja Laddach

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6 August 2017

Saeed Reza Ghaffari

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Maryam Rafati

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Elke Botzenhart

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6 August 2017

Sigrid Tinschert

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6 August 2017

Doris Börger

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6 August 2017

Axel Bohring

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6 August 2017

Julia Schreml

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6 August 2017

Stefani Körtge-Jung

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6 August 2017

Chayim Schell-Apacik

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6 August 2017

Khadijah Bakur

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6 August 2017

Jumana Y Al-Aama

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6 August 2017

Teresa Neuhann

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Peter Herkenrath

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6 August 2017

John S Davis

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6 August 2017

Andreas Gal

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6 August 2017

Carsten Bergmann

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6 August 2017

Birgit Lorenz

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6 August 2017

Hanno J Bolz

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12 November 2013

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6 August 2017

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6 August 2017

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6 August 2017

e78496

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Europe PubMed Central

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6 August 2017

copyright license

Creative Commons Attribution 4.0 International

12 November 2013

1 reference

April 2022 Public Data File from Crossref

copyright status

0 references

Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies.

1 reference

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8 July 2018

Mutations in the X-linked retinitis pigmentosa genes RPGR and RP2 found in 8.5% of families with a provisional diagnosis of autosomal dominant retinitis pigmentosa

1 reference

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8 July 2018

Novel PRPF31 mutations associated with Chinese autosomal dominant retinitis pigmentosa patients

1 reference

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8 July 2018

The UCSC Genome Browser database: extensions and updates 2013.

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8 July 2018

Mutations in RPGR and RP2 account for 15% of males with simplex retinal degenerative disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3827063

8 July 2018

A mutation in the 5'-UTR of IFITM5 creates an in-frame start codon and causes autosomal-dominant osteogenesis imperfecta type V with hyperplastic callus

1 reference

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8 July 2018

A single recurrent mutation in the 5'-UTR of IFITM5 causes osteogenesis imperfecta type V.

1 reference

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8 July 2018

Genes associated with retinitis pigmentosa and allied diseases are frequently mutated in the general population

1 reference

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8 July 2018

Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23)

1 reference

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8 July 2018

Two novel mutations in the EYS gene are possible major causes of autosomal recessive retinitis pigmentosa in the Japanese population

1 reference

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8 July 2018

Next-generation genetic testing for retinitis pigmentosa

1 reference

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8 July 2018

VarScan 2: somatic mutation and copy number alteration discovery in cancer by exome sequencing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3827063

8 July 2018

Development and application of a next-generation-sequencing (NGS) approach to detect known and novel gene defects underlying retinal diseases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3827063

8 July 2018

NCBI Reference Sequences (RefSeq): current status, new features and genome annotation policy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3827063

8 July 2018

Genomics and the eye.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3827063

8 July 2018

dbNSFP: a lightweight database of human nonsynonymous SNPs and their functional predictions

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3827063

8 July 2018

Copy-number variations in EYS: a significant event in the appearance of arRP.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3827063

8 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3827063

8 July 2018

Identification of disease-causing mutations in autosomal dominant retinitis pigmentosa (adRP) using next-generation DNA sequencing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3827063

8 July 2018

Lighting a candle in the dark: advances in genetics and gene therapy of recessive retinal dystrophies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3827063

8 July 2018

MutationTaster evaluates disease-causing potential of sequence alterations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3827063

8 July 2018

Differential pattern of RP1 mutations in retinitis pigmentosa

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3827063

8 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3827063

8 July 2018

PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3827063

8 July 2018

A method and server for predicting damaging missense mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3827063

8 July 2018

Photoreceptor degeneration: genetic and mechanistic dissection of a complex trait

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3827063

8 July 2018

AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3827063

8 July 2018

Detection of nonneutral substitution rates on mammalian phylogenies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3827063

8 July 2018

The Sequence Alignment/Map format and SAMtools

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3827063

8 July 2018

Retinitis pigmentosa

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3827063

8 July 2018

Genomic rearrangements of the PRPF31 gene account for 2.5% of autosomal dominant retinitis pigmentosa

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3827063

8 July 2018

Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3827063

8 July 2018

Computational approaches for predicting the biological effect of p53 missense mutations: a comparison of three sequence analysis based methods

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3827063

8 July 2018

Microarray-based mutation detection and phenotypic characterization of patients with Leber congenital amaurosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3827063

8 July 2018

Comprehensive statistical study of 452 BRCA1 missense substitutions with classification of eight recurrent substitutions as neutral

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3827063

8 July 2018

Molecular genetics of autosomal dominant retinitis pigmentosa (ADRP): a comprehensive study of 43 Italian families.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3827063

8 July 2018

Autosomal recessive retinitis pigmentosa is associated with mutations in RP1 in three consanguineous Pakistani families

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3827063

8 July 2018

PMUT: a web-based tool for the annotation of pathological mutations on proteins.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3827063

8 July 2018

ALOHOMORA: a tool for linkage analysis using 10K SNP array data

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3827063

8 July 2018

RP2 and RPGR mutations and clinical correlations in patients with X-linked retinitis pigmentosa

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3827063

8 July 2018

SIFT: Predicting amino acid changes that affect protein function

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3827063

8 July 2018

ESEfinder: A web resource to identify exonic splicing enhancers

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3827063

8 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3827063

8 July 2018

CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3827063

8 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3827063

8 July 2018

Allegro, a new computer program for multipoint linkage analysis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3827063

8 July 2018

Mutations in a gene encoding a new oxygen-regulated photoreceptor protein cause dominant retinitis pigmentosa

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3827063

8 July 2018

Leber congenital amaurosis caused by a homozygous mutation (R90W) in the homeodomain of the retinal transcription factor CRX: direct evidence for the involvement of CRX in the development of photoreceptor function

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3827063

8 July 2018

PedCheck: a program for identification of genotype incompatibilities in linkage analysis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3827063

8 July 2018

De novo mutations in the CRX homeobox gene associated with Leber congenital amaurosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3827063

8 July 2018

Cone-rod dystrophy due to mutations in a novel photoreceptor-specific homeobox gene (CRX) essential for maintenance of the photoreceptor

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3827063

8 July 2018

The Gene-Finder computer tools for analysis of human and model organisms genome sequences

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8 July 2018

Improved splice site detection in Genie

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8 July 2018

Analysis of donor splice sites in different eukaryotic organisms.

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8 July 2018

Splice site prediction in Arabidopsis thaliana pre-mRNA by combining local and global sequence information

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8 July 2018

Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3827063

8 July 2018

Prediction of human mRNA donor and acceptor sites from the DNA sequence

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8 July 2018

Health services utilization and cost of retinitis pigmentosa.

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0078496

21 January 2018

Mutations in the EYS gene account for approximately 5% of autosomal recessive retinitis pigmentosa and cause a fairly homogeneous phenotype

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0078496

21 January 2018

Application of a time-delay neural network to promoter annotation in the Drosophila melanogaster genome

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0078496

21 January 2018

A paradigm shift in the delivery of services for diagnosis of inherited retinal disease

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https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0078496

21 January 2018

Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease

1 reference

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21 January 2018

The Human Gene Mutation Database (HGMD) and its exploitation in the fields of personalized genomics and molecular evolution

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21 January 2018

Targeted sequencing of 179 genes associated with hereditary retinal dystrophies and 10 candidate genes identifies novel and known mutations in patients with various retinal diseases.

1 reference

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25 October 2018

HaploPainter: a tool for drawing pedigrees with complex haplotypes

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Compound heterozygosity of two novel truncation mutations in RP1 causing autosomal recessive retinitis pigmentosa

1 reference

https://pubmed.ncbi.nlm.nih.gov/24265693

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Disease expression of RP1 mutations causing autosomal dominant retinitis pigmentosa

1 reference

https://pubmed.ncbi.nlm.nih.gov/24265693

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

GRR: graphical representation of relationship errors

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Computational identification of promoters and first exons in the human genome

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1371/JOURNAL.PONE.0078496

1 reference

Europe PubMed Central

PubMed publication ID

6 August 2017

2013PLoSO...878496E

0 references

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

6 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

6 August 2017

ResearchGate publication ID

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