(Q34451963)

2 August 2017

Biallelic mutations in BRCA1 cause a new Fanconi anemia subtype (English)

1 reference

2 August 2017

1 reference

5

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2 August 2017

Jeremy Schwartzentruber

4

object named as

Jeremy Schwartzentruber

0 references

Jukka S Moilanen

object named as

Jukka S Moilanen

13

0 references

Kym M Boycott

11

object named as

Kym M Boycott

1 reference

2 August 2017

8

Jacek Majewski

1 reference

2 August 2017

7

FORGE Canada Consortium

1 reference

2 August 2017

10

A Micheil Innes

1 reference

2 August 2017

Sarah L Sawyer

1

1 reference

2 August 2017

Lei Tian

2

1 reference

2 August 2017

Marketta Kähkönen

3

1 reference

2 August 2017

University of Washington Centre for Mendelian Genomics

6

1 reference

2 August 2017

David A Dyment

9

1 reference

2 August 2017

Lisa A Moreau

12

1 reference

2 August 2017

Roger A Greenberg

14

1 reference

2 August 2017

3 December 2014

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2 August 2017

1 reference

2 August 2017

5

1 reference

2 August 2017

2

1 reference

2 August 2017

135-142

1 reference

BRCA1 promotes unloading of the CMG helicase from a stalled DNA replication fork

2 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320660

Probing structure-function relationships in missense variants in the carboxy-terminal region of BRCA1

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320660

Why does the bone marrow fail in Fanconi anemia?

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320660

Fanconi anaemia and the repair of Watson and Crick DNA crosslinks

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320660

Biallelic deleterious BRCA1 mutations in a woman with early-onset ovarian cancer

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320660

BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer risk

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320660

BRCA1 functions independently of homologous recombination in DNA interstrand crosslink repair

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320660

Mechanism of RAD51-dependent DNA interstrand cross-link repair.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320660

A framework for variation discovery and genotyping using next-generation DNA sequencing data

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320660

Impact of BRCA1 BRCT Domain Missense Substitutions on Phosphopeptide Recognition

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320660

Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320660

Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320660

Fanconi anemia and its diagnosis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320660

Fast and accurate short read alignment with Burrows-Wheeler transform

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320660

Mechanism of replication-coupled DNA interstrand crosslink repair

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320660

Emergence of a DNA-damage response network consisting of Fanconi anaemia and BRCA proteins

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320660

Fanconi anemia is associated with a defect in the BRCA2 partner PALB2.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320660

Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320660

Targeting the DNA repair defect in BRCA mutant cells as a therapeutic strategy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320660

Specific killing of BRCA2-deficient tumours with inhibitors of poly(ADP-ribose) polymerase

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320660

The Fanconi anaemia/BRCA pathway

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320660

Biallelic inactivation of BRCA2 in Fanconi anemia

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320660

Functional analysis of BRCA1 C-terminal missense mutations identified in breast and ovarian cancer families

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320660

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320660

BRCA1 expression restores radiation resistance in BRCA1-defective cancer cells through enhancement of transcription-coupled DNA repair

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320660

Germline RAD51C mutations confer susceptibility to ovarian cancer

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320660

10.1158/2159-8290.CD-14-1156

9 December 2018

Identifiers

DOI

1 reference

2 August 2017

1 reference

2 August 2017

1 reference