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A Dominant Mutation in Human RAD51 Reveals Its Function in DNA Interstrand Crosslink Repair Independent of Homologous Recombination

Molecular cell, 2015-08, Vol.59 (3), p.478-490

2015

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Mutations of the SLX4 gene in Fanconi anemia

Nature genetics, 2011-02, Vol.43 (2), p.142-146

2011

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Distinct roles of BRCA2 in replication fork protection in response to hydroxyurea and DNA interstrand cross-links

Genes & development, 2020-06, Vol.34 (11-12), p.832-846

2020

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Regulation of multiple DNA repair pathways by the Fanconi anemia protein SLX4

Blood, 2013-01, Vol.121 (1), p.54-63

2013

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

Nature genetics, 2007-02, Vol.39 (2), p.162-164

2007

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Deficiency of UBE2T, the E2 Ubiquitin Ligase Necessary for FANCD2 and FANCI Ubiquitination, Causes FA-T Subtype of Fanconi Anemia

Cell reports (Cambridge), 2015-07, Vol.12 (1), p.35-41

2015

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FAAP20: a novel ubiquitin-binding FA nuclear core-complex protein required for functional integrity of the FA-BRCA DNA repair pathway

Blood, 2012-04, Vol.119 (14), p.3285-3294

2012

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A 20-year perspective on the International Fanconi Anemia Registry (IFAR)

Blood, 2003-02, Vol.101 (4), p.1249-1256

2003

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Massively parallel sequencing, aCGH, and RNA-Seq technologies provide a comprehensive molecular diagnosis of Fanconi anemia

Blood, 2013-05, Vol.121 (22), p.e138-e148

2013

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The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia

Nature genetics, 2005-09, Vol.37 (9), p.931-933

2005

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Unrelated donor bone marrow transplantation for the treatment of Fanconi anemia

Blood, 2007-03, Vol.109 (5), p.2256-2262

2007

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Correct mRNA Processing at a Mutant TT Splice Donor in FANCC Ameliorates the Clinical Phenotype in Patients and Is Enhanced by Delivery of Suppressor U1 snRNAs

American journal of human genetics, 2010-10, Vol.87 (4), p.480-493

2010

Volltextzugriff (PDF)

Diagnosis of Fanconi Anemia by Diepoxybutane Analysis

Current Protocols in Human Genetics, 2015-04, Vol.85 (1), p.8.7.1-8.7.17

Auerbach, Arleen D.

2015

Volltextzugriff (PDF)

Comprehensive Analysis of Pathogenic Deletion Variants in Fanconi Anemia Genes

Human mutation, 2014-11, Vol.35 (11), p.1342-1353

2014

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FAAP100 is essential for activation of the Fanconi anemia-associated DNA damage response pathway

The EMBO journal, 2007-04, Vol.26 (8), p.2104-2114

2007

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Genetic heterogeneity among fanconi anemia heterozygotes and risk of cancer

Cancer research (Chicago, Ill.), 2007-10, Vol.67 (19), p.9591-9596

2007

Volltextzugriff (PDF)

Genomic signature of Fanconi anaemia DNA repair pathway deficiency in cancer

Nature (London), 2022-12, Vol.612 (7940), p.495-502

2022

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Successful engraftment without radiation after fludarabine-based regimen in Fanconi anemia patients undergoing genotypically identical donor hematopoietic cell transplantation

Pediatric blood & cancer, 2006-05, Vol.46 (5), p.630-636

2006

Volltextzugriff (PDF)

Natural history and management of Fanconi anemia patients with head and neck cancer: A 10-year follow-up

The Laryngoscope, 2016-04, Vol.126 (4), p.870-879

2016

Volltextzugriff (PDF)

A Rapid Method for Retrovirus-Mediated Identification of Complementation Groups in Fanconi Anemia Patients

Molecular therapy, 2005-11, Vol.12 (5), p.976-984

2005

Volltextzugriff (PDF)

Mutation (variation) databases and registries: a rationale for coordination of efforts

Nature reviews. Genetics, 2011-12, Vol.12 (12), p.881; discussion 881

2011

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Identification and characterization of mutations in FANCL gene: A second case of Fanconi anemia belonging to FA-L complementation group

Human mutation, 2009-07, Vol.30 (7), p.E761-E770

2009

Volltextzugriff (PDF)

Association of clinical severity with FANCB variant type in Fanconi anemia

Blood, 2020-04, Vol.135 (18), p.1588-1602

2020

Volltextzugriff (PDF)

Telomere Phenotypes in Females with Heterozygous Mutations in the Dyskeratosis Congenita 1 (DKC1) Gene

Human mutation, 2013-11, Vol.34 (11), p.1481-1485

2013

Volltextzugriff (PDF)

A comprehensive approach to identification of pathogenic FANCA variants in Fanconi anemia patients and their families

Human mutation, 2018-02, Vol.39 (2), p.237-254

2018

Volltextzugriff (PDF)

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A Dominant Mutation in Human RAD51 Reveals Its Function in DNA Interstrand Crosslink Repair Independent of Homologous Recombination

Mutations of the SLX4 gene in Fanconi anemia

Distinct roles of BRCA2 in replication fork protection in response to hydroxyurea and DNA interstrand cross-links

Regulation of multiple DNA repair pathways by the Fanconi anemia protein SLX4

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

Deficiency of UBE2T, the E2 Ubiquitin Ligase Necessary for FANCD2 and FANCI Ubiquitination, Causes FA-T Subtype of Fanconi Anemia

FAAP20: a novel ubiquitin-binding FA nuclear core-complex protein required for functional integrity of the FA-BRCA DNA repair pathway

A 20-year perspective on the International Fanconi Anemia Registry (IFAR)

Massively parallel sequencing, aCGH, and RNA-Seq technologies provide a comprehensive molecular diagnosis of Fanconi anemia

The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia

Unrelated donor bone marrow transplantation for the treatment of Fanconi anemia

Correct mRNA Processing at a Mutant TT Splice Donor in FANCC Ameliorates the Clinical Phenotype in Patients and Is Enhanced by Delivery of Suppressor U1 snRNAs

Diagnosis of Fanconi Anemia by Diepoxybutane Analysis

Comprehensive Analysis of Pathogenic Deletion Variants in Fanconi Anemia Genes

FAAP100 is essential for activation of the Fanconi anemia-associated DNA damage response pathway

Genetic heterogeneity among fanconi anemia heterozygotes and risk of cancer

Genomic signature of Fanconi anaemia DNA repair pathway deficiency in cancer

Successful engraftment without radiation after fludarabine-based regimen in Fanconi anemia patients undergoing genotypically identical donor hematopoietic cell transplantation

Natural history and management of Fanconi anemia patients with head and neck cancer: A 10-year follow-up

A Rapid Method for Retrovirus-Mediated Identification of Complementation Groups in Fanconi Anemia Patients

Mutation (variation) databases and registries: a rationale for coordination of efforts

Identification and characterization of mutations in FANCL gene: A second case of Fanconi anemia belonging to FA-L complementation group

Association of clinical severity with FANCB variant type in Fanconi anemia

Telomere Phenotypes in Females with Heterozygous Mutations in the Dyskeratosis Congenita 1 (DKC1) Gene

A comprehensive approach to identification of pathogenic FANCA variants in Fanconi anemia patients and their families

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