Auerbach, Arleen

Publications

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selected publications

Comparison of the clinical phenotype and haematological course of siblings with Fanconi anaemia. British journal of haematology. 2020 Academic Article GET IT
Times cited: 4
Association of clinical severity with FANCB variant type in Fanconi anemia. Blood. 2020 Academic Article GET IT
Times cited: 16
Distinct roles of BRCA2 in replication fork protection in response to hydroxyurea and DNA interstrand cross-links. Genes & development. 2020 Academic Article GET IT
Times cited: 31
A founder variant in the South Asian population leads to a high prevalence of FANCL Fanconi anemia cases in India. Human mutation. 2019 Academic Article GET IT
Times cited: 6
A comprehensive approach to identification of pathogenic FANCA variants in Fanconi anemia patients and their families. Human mutation. 2017 Academic Article GET IT
Times cited: 28
Paternal or Maternal Uniparental Disomy of Chromosome 16 Resulting in Homozygosity of a Mutant Allele Causes Fanconi Anemia. Human mutation. 2016 Academic Article GET IT
Times cited: 6
Natural history and management of Fanconi anemia patients with head and neck cancer: A 10-year follow-up. The Laryngoscope. 2015 Academic Article GET IT
Times cited: 56
A Dominant Mutation in Human RAD51 Reveals Its Function in DNA Interstrand Crosslink Repair Independent of Homologous Recombination. 2015 GET IT
Times cited: 180
Deficiency of UBE2T, the E2 Ubiquitin Ligase Necessary for FANCD2 and FANCI Ubiquitination, Causes FA-T Subtype of Fanconi Anemia. Cell reports. 2015 Academic Article GET IT
Times cited: 96
Diagnosis of Fanconi anemia by diepoxybutane analysis. Current protocols in human genetics. 2015 Academic Article GET IT
Times cited: 62
Comprehensive analysis of pathogenic deletion variants in Fanconi anemia genes. Human mutation. 2014 Academic Article GET IT
Times cited: 32
Telomere phenotypes in females with heterozygous mutations in the dyskeratosis congenita 1 (DKC1) gene. 2013 GET IT
Times cited: 74
Massively parallel sequencing, aCGH, and RNA-Seq technologies provide a comprehensive molecular diagnosis of Fanconi anemia. Blood. 2013 Academic Article GET IT
Times cited: 69
Regulation of multiple DNA repair pathways by the Fanconi anemia protein SLX4. Blood. 2012 Academic Article GET IT
Times cited: 130
Human Variome Project country nodes: documenting genetic information within a country. Human mutation. 2012 Academic Article GET IT
Times cited: 11
FAAP20: a novel ubiquitin-binding FA nuclear core-complex protein required for functional integrity of the FA-BRCA DNA repair pathway. Blood. 2012 Academic Article GET IT
Times cited: 72
Sensitive quantification of mosaicism using high density SNP arrays and the cumulative distribution function. Molecular genetics and metabolism. 2011 Academic Article GET IT
Times cited: 13
Mutation (variation) databases and registries: a rationale for coordination of efforts. Nature reviews. Genetics. 2011 Letter GET IT
Times cited: 10
Clarity and claims in variation/mutation databasing. Nature biotechnology. 2011 Letter GET IT
Postoperative clinical radiosensitivity in patients with fanconi anemia and head and neck squamous cell carcinoma. Archives of otolaryngology--head & neck surgery. 2011 Academic Article GET IT
Times cited: 45
The clinical phenotype of children with Fanconi anemia caused by biallelic FANCD1/BRCA2 mutations. 2011 GET IT
Times cited: 37
Mutations of the SLX4 gene in Fanconi anemia. Nature genetics. 2011 Academic Article GET IT
Times cited: 266
How to catch all those mutations--the report of the third Human Variome Project Meeting, UNESCO Paris, May 2010. Human mutation. 2010 Conference Paper GET IT
Times cited: 32
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 Academic Article GET IT
Times cited: 45
FANCJ/BRIP1 recruitment and regulation of FANCD2 in DNA damage responses. Chromosoma. 2010 Academic Article GET IT
Times cited: 22
Identification and characterization of mutations in FANCL gene: a second case of Fanconi anemia belonging to FA-L complementation group. 2009 GET IT
Times cited: 21
Planning the human variome project: the Spain report. Human mutation. 2009 Conference Paper GET IT
Times cited: 42
Phenotyping genetic diseases using an extension of mu-scores for multivariate data. Statistical applications in genetics and molecular biology. 2008 Academic Article GET IT
Times cited: 10
Fludarabine-based cytoreductive regimen and T-cell-depleted grafts from alternative donors for the treatment of high-risk patients with Fanconi anaemia. British journal of haematology. 2008 Review GET IT
Times cited: 72
Recommendations for locus-specific databases and their curation. Human mutation. 2008 Academic Article GET IT
Times cited: 54
A 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. Human mutation. 2007 Academic Article GET IT
Times cited: 10
Genetic heterogeneity among Fanconi anemia heterozygotes and risk of cancer. Cancer research. 2007 Academic Article GET IT
Times cited: 82
Chemotherapy for myeloid malignancy in children with Fanconi anemia. 2007 GET IT
Times cited: 40
FANCI is a second monoubiquitinated member of the Fanconi anemia pathway. Nature structural & molecular biology. 2007 Academic Article GET IT
Times cited: 228
Recommendations of the 2006 Human Variome Project meeting. Nature genetics. 2007 Conference Paper GET IT
Times cited: 55
FAAP100 is essential for activation of the Fanconi anemia-associated DNA damage response pathway. The EMBO journal. 2007 Academic Article GET IT
Times cited: 117
Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer. Nature genetics. 2006 Academic Article GET IT
Times cited: 504
Reply to Dr. Strom regarding "A call for mutations". Genetics in medicine : official journal of the American College of Medical Genetics. 2006 Letter GET IT
GST genotype may modify clinical phenotype in patients with Fanconi anaemia. British journal of haematology. 2005 Academic Article GET IT
Times cited: 16
The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia. Nature genetics. 2005 Academic Article GET IT
Times cited: 315
A rapid method for retrovirus-mediated identification of complementation groups in Fanconi anemia patients. Molecular therapy : the journal of the American Society of Gene Therapy. 2005 Academic Article GET IT
Times cited: 69
Spectrum of sequence variations in the FANCA gene: an International Fanconi Anemia Registry (IFAR) study. Human mutation. 2005 Academic Article GET IT
Times cited: 62
A call for mutations. Genetics in medicine : official journal of the American College of Medical Genetics. 2005 Letter GET IT
Times cited: 5
Successful umbilical cord blood transplantation for Fanconi anemia using preimplantation genetic diagnosis for HLA-matched donor. 2004 GET IT
Times cited: 38
Human papillomavirus DNA and p53 polymorphisms in squamous cell carcinomas from Fanconi anemia patients. Journal of the National Cancer Institute. 2003 Academic Article GET IT
Times cited: 139
Shared genetic susceptibility to breast cancer, brain tumors, and Fanconi anemia. Journal of the National Cancer Institute. 2003 Academic Article GET IT
Times cited: 153
Diagnosis of fanconi anemia by diepoxybutane analysis. Current protocols in human genetics. 2003 Academic Article GET IT
Times cited: 41
Spectrum of sequence variation in the FANCG gene: an International Fanconi Anemia Registry (IFAR) study. Human mutation. 2003 Academic Article GET IT
Times cited: 35
Evaluation of growth and hormonal status in patients referred to the International Fanconi Anemia Registry. Pediatrics. 2001 Academic Article GET IT
Times cited: 95
Disorders of DNA replication and repair. Current opinion in pediatrics. 1997 Review GET IT
Times cited: 42
Mutation analysis of the Fanconi anemia gene FACC. American journal of human genetics. 1994 Academic Article GET IT
Times cited: 116
The need for more accurate and timely diagnosis in Fanconi anemia: a report from the International Fanconi Anemia Registry. Pediatrics. 1993 Academic Article GET IT
Times cited: 181
Fanconi anemia: a model for genetic causes of abnormal brain development. Developmental medicine and child neurology. 1992 Academic Article GET IT
Times cited: 15
Fanconi anemia: evidence for linkage heterogeneity on chromosome 20q. Genomics. 1991 Academic Article GET IT
Times cited: 54

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Background

education and training

Ph.D., New York University 1977
M.A., Columbia University 1958
B.A., William Smith College 1957

Contact

full name

Arleen Auerbach

VIVO Weill Cornell Medical College

Arleen Auerbach Adjunct Associate Professor of Genetics in Pediatrics

Publications

selected publications

Background

education and training

Contact

full name