(Q34534327)

2 August 2017

Genotyping of fanconi anemia patients by whole exome sequencing: advantages and challenges (English)

1 reference

2 August 2017

1 reference

1 reference

7

Detlev Schindler

1 reference

2 August 2017

Kerstin Knies

1

1 reference

2 August 2017

Beatrice Schuster

2

1 reference

2 August 2017

Najim Ameziane

3

1 reference

2 August 2017

Martin Rooimans

4

1 reference

2 August 2017

Thomas Bettecken

5

1 reference

2 August 2017

Johan de Winter

6

1 reference

2 August 2017

language of work or name

English

0 references

publication date

20 December 2012

1 reference

2 August 2017

1 reference

2 August 2017

7

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2 August 2017

12

1 reference

2 August 2017

e52648

1 reference

Creative Commons Attribution 4.0 International

2 August 2017

start time

20 December 2012

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

Diagnosis of fanconi anemia: mutation analysis by next-generation sequencing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3527584

Performance comparison of exome DNA sequencing technologies

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3527584

DNA interstrand crosslink repair and cancer

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3527584

Pediatric leukemia predisposition syndromes: clues to understanding leukemogenesis

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3527584

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3527584

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3527584

Fanconi anemia and its diagnosis

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3527584

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3527584

The Sequence Alignment/Map format and SAMtools

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3527584

Fast and accurate short read alignment with Burrows-Wheeler transform

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3527584

Next-generation DNA sequencing

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3527584

The impact of next-generation sequencing technology on genetics

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3527584

Hypomorphic mutations in the gene encoding a key Fanconi anemia protein, FANCD2, sustain a significant group of FA-D2 patients with severe phenotype

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3527584

Interactive visual analysis of SNP data for rapid autozygosity mapping in consanguineous families

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3527584

Positional cloning of a novel Fanconi anemia gene, FANCD2

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3527584

Confirmation of Fanconi's anemia and detection of a chromosomal aberration (1Q12-32 triplication) via BrdU/Hoechst flow cytometry

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3527584

Cancer incidence in persons with Fanconi anemia.

7 July 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0052648

Association of biallelic BRCA2/FANCD1 mutations with spontaneous chromosomal instability and solid tumors of childhood.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0052648

Mutation of the RAD51C gene in a Fanconi anemia-like disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0052648

Fanconi anemia diagnosis and the diepoxybutane (DEB) test.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3527584

Mitomycin C test for diagnostic differentiation of idiopathic aplastic anemia and Fanconi anemia

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3527584

Further evidence for the contribution of the RAD51C gene in hereditary breast and ovarian cancer susceptibility

27 October 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0052648

Applications of Cell Cycle Testing in Fanconi Anemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0052648

Germline mutations in BRCA2: shared genetic susceptibility to breast cancer, early onset leukemia, and Fanconi anemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0052648

Comparative evaluation of diepoxybutane sensitivity and cell cycle blockage in the diagnosis of Fanconi anemia

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23285130

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Spontaneous chromosome aberrations in familial panmyelopathy

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23285130

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1371/JOURNAL.PONE.0052648

1 reference

2 August 2017

0 references

1 reference

2 August 2017

1 reference