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Author Details

Arleen D Auerbach
The Rockefeller University
1976
140
54
PMIDPaper TitleJournal TitlePublished Year
36450981Genomic signature of Fanconi anaemia DNA repair pathway deficiency in cancer.Nature2022
32866285Comparison of the clinical phenotype and haematological course of siblings with Fanconi anaemia.Br J Haematol2021
31513304A founder variant in the South Asian population leads to a high prevalence of FANCL Fanconi anemia cases in India.Hum Mutat2020
32106311Association of clinical severity with FANCB variant type in Fanconi anemia.Blood2020
29193904Somatic mosaicism of an intragenic FANCB duplication in both fibroblast and peripheral blood cells observed in a Fanconi anemia patient leads to milder phenotype.Mol Genet Genomic Med2018
29098742A comprehensive approach to identification of pathogenic FANCA variants in Fanconi anemia patients and their families.Hum Mutat2018
26841305Paternal or Maternal Uniparental Disomy of Chromosome 16 Resulting in Homozygosity of a Mutant Allele Causes Fanconi Anemia.Hum Mutat2016
26484938Natural history and management of Fanconi anemia patients with head and neck cancer: A 10-year follow-up.Laryngoscope2016
25827349Diagnosis of Fanconi anemia by diepoxybutane analysis.Curr Protoc Hum Genet2015
26253028A Dominant Mutation in Human RAD51 Reveals Its Function in DNA Interstrand Crosslink Repair Independent of Homologous Recombination.Mol Cell2015
26119737Deficiency of UBE2T, the E2 Ubiquitin Ligase Necessary for FANCD2 and FANCI Ubiquitination, Causes FA-T Subtype of Fanconi Anemia.Cell Rep2015
25168418Comprehensive analysis of pathogenic deletion variants in Fanconi anemia genes.Hum Mutat2014
23093618Regulation of multiple DNA repair pathways by the Fanconi anemia protein SLX4.Blood2013
23946118Telomere phenotypes in females with heterozygous mutations in the dyskeratosis congenita 1 (DKC1) gene.Hum Mutat2013
23613520Massively parallel sequencing, aCGH, and RNA-Seq technologies provide a comprehensive molecular diagnosis of Fanconi anemia.Blood2013
21548014The clinical phenotype of children with Fanconi anemia caused by biallelic FANCD1/BRCA2 mutations.Pediatr Blood Cancer2012
22753370Human Variome Project country nodes: documenting genetic information within a country.Hum Mutat2012
22277120Sensitive quantification of mosaicism using high density SNP arrays and the cumulative distribution function.Mol Genet Metab2012
22343915FAAP20: a novel ubiquitin-binding FA nuclear core-complex protein required for functional integrity of the FA-BRCA DNA repair pathway.Blood2012
21273304Origin, functional role, and clinical impact of Fanconi anemia FANCA mutations.Blood2011
22025002Mutation (variation) databases and registries: a rationale for coordination of efforts.Nat Rev Genet2011
21930984Postoperative clinical radiosensitivity in patients with fanconi anemia and head and neck squamous cell carcinoma.Arch Otolaryngol Head Neck Surg2011
21904316Clarity and claims in variation/mutation databasing.Nat Biotechnol2011
21240275Mutations of the SLX4 gene in Fanconi anemia.Nat Genet2011
20676667FANCJ/BRIP1 recruitment and regulation of FANCD2 in DNA damage responses.Chromosoma2010
20869034Correct 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.Am J Hum Genet2010
20960468How to catch all those mutations--the report of the third Human Variome Project Meeting, UNESCO Paris, May 2010.Hum Mutat2010
19306394Planning the human variome project: the Spain report.Hum Mutat2009
19622403Fanconi anemia and its diagnosis.Mutat Res2009
19405097Identification and characterization of mutations in FANCL gene: a second case of Fanconi anemia belonging to FA-L complementation group.Hum Mutat2009
18157828Recommendations for locus-specific databases and their curation.Hum Mutat2008
18988827GENETICS. The Human Variome Project.Science2008
18597665Phenotyping genetic diseases using an extension of mu-scores for multivariate data.Stat Appl Genet Mol Biol2008
18302713Fludarabine-based cytoreductive regimen and T-cell-depleted grafts from alternative donors for the treatment of high-risk patients with Fanconi anaemia.Br J Haematol2008
16609946Chemotherapy for myeloid malignancy in children with Fanconi anemia.Pediatr Blood Cancer2007
17909071Genetic heterogeneity among Fanconi anemia heterozygotes and risk of cancer.Cancer Res2007
17726697A structured simple form for ordering genetic tests is needed to ensure coupling of clinical detail (phenotype) with DNA variants (genotype) to ensure utility in publication and databases.Hum Mutat2007
17367413Matched sibling donor haematopoietic stem cell transplantation in Fanconi anaemia: an update of the Cincinnati Children's experience.Br J Haematol2007
17436244Hypomorphic mutations in the gene encoding a key Fanconi anemia protein, FANCD2, sustain a significant group of FA-D2 patients with severe phenotype.Am J Hum Genet2007
17396147FAAP100 is essential for activation of the Fanconi anemia-associated DNA damage response pathway.EMBO J2007
17460694FANCI is a second monoubiquitinated member of the Fanconi anemia pathway.Nat Struct Mol Biol2007
17392799Recommendations of the 2006 Human Variome Project meeting.Nat Genet2007
17038525Unrelated donor bone marrow transplantation for the treatment of Fanconi anemia.Blood2007
17200671Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer.Nat Genet2007
17164793Stem cell collection and gene transfer in Fanconi anemia.Mol Ther2007
16078221Successful engraftment without radiation after fludarabine-based regimen in Fanconi anemia patients undergoing genotypically identical donor hematopoietic cell transplantation.Pediatr Blood Cancer2006
16845281Reply to Dr. Strom regarding "A call for mutations".Genet Med2006
15643609Spectrum of sequence variations in the FANCA gene: an International Fanconi Anemia Registry (IFAR) study.Hum Mutat2005
16116424The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia.Nat Genet2005
16173971GST genotype may modify clinical phenotype in patients with Fanconi anaemia.Br J Haematol2005
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Collaborators

The Rockefeller University.
Co-authored papers 17
Instituto de Investigacion Sanitaria Hospital 12 de Octubre (imas12)
Co-authored papers 15
National Institutes of Health
Co-authored papers 11
National Institutes of Health
Co-authored papers 9
Leiden University Medical Center
Co-authored papers 7
Co-authored papers 7
Lund University
Co-authored papers 7
The Rockefeller University
Co-authored papers 7
National Human Genome Research Institute, National Institutes of Health
Co-authored papers 6
Johns Hopkins University School of Medicine
Co-authored papers 5
Houston Methodist Hospital
Co-authored papers 5
Population Health Sciences Institute, Newcastle University
Co-authored papers 5
University of Leicester
Co-authored papers 4
Oregon Health & Science University (OHSU)
Co-authored papers 4
National Cancer Institute
Co-authored papers 4
Memorial Sloan Kettering Cancer Center
Co-authored papers 4
National Center for Biotechnology Information, National Institutes of Health
Co-authored papers 4
Anthony Nolan Research Institute, Royal Free Hospital
Co-authored papers 3
Guy's Hospital
Co-authored papers 3
National Cancer Institute, 9609 Medical Center Dr
Co-authored papers 3
European Bioinformatics Institute
Co-authored papers 3
University of Virginia
Co-authored papers 3
University of Michigan ann arbor
Co-authored papers 3
Marcus Center for Cellular Cures, Duke University School of Medicine
Co-authored papers 2
Broad Institute of MIT and Harvard
Co-authored papers 2
Dasman Diabetes Institute
Co-authored papers 2
National Heart Lung and Blood Institute Division of Intramural Research
Co-authored papers 2
Whitehead Institute
Co-authored papers 2
University of Lausanne
Co-authored papers 2
King AbdulAziz University
Co-authored papers 2