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Publications from the IFAR study

Auerbach AD, Schroeder TM:  First announcement of the Fanconi Anemia International Registry (letter).  Blood 60:1054, 1982.

Auerbach AD, Rogatko A, Schroeder TM:  International Fanconi Anemia Registry (IFAR): first report.  In:  Fanconi Anemia, Clinical, Cytogenetic and Experimental Aspects,  Schroeder TM, Auerbach AD, Obe G (eds), Heidelberg, Springer-Verlag, pp.3-17, 1989.

Auerbach AD, Rogatko A, Schroeder-Kurth TM:  International Fanconi Anemia Registry:  relation of clinical symptoms to diepoxybutane sensitivity. Blood 73:391-396, 1989.

Auerbach AD, Allen RG:  Leukemia and preleukemia in Fanconi anemia patients:  a review of the literature and report of the International Fanconi Anemia Registry. Cancer Genet Cytogenet 51:1-12, 1991.

Pavlakis SG, Frissora CL, Giampietro PF, Davis JG, Gould RJ, Adler-Brecher B, Auerbach AD: Fanconi anemia: a model for genetic causes of abnormal brain development.  Developmental Medicine and Child Neurology, 34:1081-1084, 1992.

Giampietro PF, Adler-Brecher B, Verlander PC, Pavlakis SG, Davis JG, Auerbach AD:  The need for more accurate and timely diagnosis in Fanconi anemia. A report from the International Fanconi Anemia Registry. Pediatrics: 91:1116-1120, 1993.

Butturini A, Gale RP, Verlander PC, Adler-Brecher B, Gillio A, Auerbach AD.  Hematologic abnormalities in Fanconi anemia. An International Fanconi Anemia Registry study.   Blood, 84:1650-1655, 1994.

Gschwend M, Levran O, Kruglyak L, Ranade K, Verlander PC, Shen S, Faure S, Weissenbach J, Altay C, Lander ES, Auerbach AD, Botstein D.  A locus for Fanconi anemia on 16q determined by  homozygosity of mapping.  Am J Hum Genet 59:377-384, 1996.

Giampietro PF, Verlander PC, Davis JG, Auerbach AD.  Diagnosis of Fanconi anemia in patients without congenital malformations:  An International Fanconi Anemia Registry Study.  Am J Med Genet 68:58-61, 1997.

Gillio AP, Verlander PC, Batish SD, Giampietro PF, Auerbach AD.  Phenotypic consequences of mutations in the Fanconi anemia FAC gene: An International Fanconi Anemia Registry study. Blood 90:105-110, 1997.

Levran O, Erlich T, Magdalena N, Gregory JJ, Batish SD, Verlander PC, Auerbach AD.  Sequence variation in the Fanconi anemia gene FAA. Proc Natl Acad Sci (USA) 94:13051-13056, 1997.

Wajnrajch MP, Gertner JM, Huma Z, Popovic J, Lin K, Verlander PC, Batish SD, Giampietro PF, Davis JG, New MI, Auerbach AD: Evaluation of growth and hormonal status in patients referred to the International Fanconi Anemia Registry. Pediatrics 107:744-754, 2001.

Kutler DI, Singh, B, Satagopan J, Batish, SD, Berwick M, Giampietro PF, Auerbach AD: A 20 year perspective of The International Fanconi Anemia Registry (IFAR). Blood 101:1249-1256, 2003.

Kutler DI, Auerbach AD, Satagopan J, Giampietro PF, Batish SD, Jatin P. Shah JP, Singh B, High incidence of head and neck squamous cell carcinoma (HNSCC) in patients with Fanconi anemia (FA).  Archives of Otolaryngology. 129:106-112, 2003

Auerbach AD, Pujara K, Greenbaum J, Batish SD, Verlander PC, Levran, O:  Spectrum of sequence variation in the FANCG gene: an International Fanconi Anemia Registry (IFAR) study.  Human Mutation 21:158-168, 2003.

Offit K, Levran O, Mullaney B, Mah K, Hull J, Nafa K, Robson M, Norton L, Ellis N, Auerbach AD.  Shared Genetic susceptibility to breast cancer, brain tumors, and Fanconi anemia in an extended family. J Natl Can Instit, 95:1548-1551. 2003,

Kutler DI, Goberdhan A, Ben-Porat L, Satagopan J, Ngai I, Huvos AG,  Giampietro PF, Huryn LA, Levran O, Pujara K, Diotti R, Auerbach AD, Singh B: Higher levels of human papilloma virus integration and lack of p53 mutations in squamous cell carcinoma from patients with Fanconi anemia. J Natl Can Inst 95:1718-1721, 2003.

Wagner, JE, Tolar J, Levran O, Scholl T, Deffenbaugh A, Satagopan J , Ben-Porat L, Mah K, Berwick M, Kutler DI, MacMillan ML, HanenbergH, Auerbach AD. Germline Mutations in BRCA2: Shared genetic susceptibility to breast cancer, early onset leukemia and Fanconi anemia.  Blood 103: 3226-3229.  2004.

LevranO, DiottiR, PujaraK, BatishSD, Hanenberg H, AuerbachAD. Spectrum of sequence variations in the FANCA gene.  Hum Mutat 25:142-149, 2005.

LevranO,  AttwoollC,  Henry RT, MiltonKL, NevelingK, RioP, Batish SD, Kalb R, VelleuerE, BarralS, Ott J, Petrini J, Schindler D, Hanenberg H, Auerbach AD. The BRCA1 interacting helicase  BACH1/BRIP1 is deficient in Fanconi anemia. Nat. Genet.  37:931-933, 2005.

Berwick M,  SagatopanJ,  Ben-PoratL,  CarlsonA,  MahK,  HenryR,  DiottiR,  MiltonK,  PujaraK, Landers, T,  BatishSD, Morales J, Schindler D,  Hanenberg H, Hromas R,  LevranO,  Auerbach AD. Genetic heterogeneity among Fanconi anemia heterozygotes and risk of cancer. Cancer Res 67: 9591-9596,  2007

Morales, J, Song, T, Auerbach, AD, Wittkowski, KM. Phenotyping Genetic Diseases Using an Extension of µ-Scores for Multivariate Data.  Statistical Applications in Genetics and Molecular Biology  7: Article 19, Epub 2008 Jun 30.  Available at:

Auerbach AD.  Fanconi anemia and its diagnosis.  Mutat Res/Fundamental and Molec Mechanisms of Mutagenesis. 668: 4-10, 2009.

Birkeland AC, Auerbach AD,   Sanborn E,  Parashar B,  Agata Smogorzewska A, Kutler  DI, Postoperative clinical radiosensitivity in patients with Fanconi anemia and head and neck squamous cell carcinoma.  Archives of otolaryngology--head & neck surgery 137: 930-934, 2011.

Kim Y, Lach FP, Desetty R, Hanenberg H, Auerbach AD, Smogorzewska A, Mutations of the SLX4 gene in Fanconi anemia. Nat Genet, 2011.