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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.

Smogorzewska, A#., S. Matsuoka#, P. Vinciguerra, E.R. McDonald, 3rd, K.E. Hurov, J. Luo, B.A. Ballif, S.P. Gygi, K. Hofmann, A.D. D'Andrea, and S.J. Elledge, Identification of the FANCI protein, a monoubiquitinated FANCD2 paralog required for DNA repair. Cell, 2007. 129(2): p. 289-301. #equal contribution

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

Ishiai, M., H. Kitao, A. Smogorzewska, J. Tomida, A. Kinomura, E. Uchida, A. Saberi, E. Kinoshita, E. Kinoshita-Kikuta, T. Koike, S. Tashiro, S.J. Elledge, and M. Takata, FANCI phosphorylation functions as a molecular switch to turn on the Fanconi anemia pathway. Nat Struct Mol Biol, 2008. 15(11): p. 1138-46.

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.  

Knipscheer, P., M. Raschle, A. Smogorzewska, M. Enoiu, T.V. Ho, O.D. Scharer, S.J. Elledge, and J.C. Walter, The Fanconi anemia pathway promotes replication-dependent DNA interstrand cross-link repair. Science, 2009. 326(5960): p. 1698-701.

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

Smogorzewska, A.#, R. Desetty, T.T. Saito, M. Schlabach, F.P. Lach, M.E. Sowa, A.B. Clark, T.A. Kunkel, J.W. Harper, M.P. Colaiacovo, and S.J. Elledge#, A genetic screen identifies FAN1, a Fanconi anemia-associated nuclease necessary for DNA interstrand crosslink repair. Mol Cell, 2010. 39(1): p. 36-47. #co-corresponding authors

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

Joo, W., G. Xu, N.S. Persky, A. Smogorzewska, D.G. Rudge, O. Buzovetsky, S.J. Elledge, and N.P. Pavletich, Structure of the FANCI-FANCD2 complex: insights into the Fanconi anemia DNA repair pathway. Science, 2011. 333(6040): p. 312-6.

Birkeland, A.C., A.D. Auerbach, E. Sanborn, B. Parashar, W.I. Kuhel, S.C. Chandrasekharappa, A. Smogorzewska, and D.I. Kutler, Postoperative clinical radiosensitivity in patients with fanconi anemia and head and neck squamous cell carcinoma. Arch Otolaryngol Head Neck Surg, 2011. 137(9): p. 930-4.

Kottemann, M.C. and A. Smogorzewska, Fanconi anaemia and the repair of Watson and Crick DNA crosslinks. Nature, 2013. 493(7432): p. 356-63. Review

Kim, Y., G.S. Spitz, U. Veturi, F.P. Lach, A.D. Auerbach, and A. Smogorzewska, Regulation of multiple DNA repair pathways by the Fanconi anemia protein SLX4. Blood, 2013. 121(1): p. 54-63.

Chandrasekharappa, S.C., F.P. Lach, D.C. Kimble, A. Kamat, J.K. Teer, F.X. Donovan, E. Flynn, S.K. Sen, S. Thongthip, E. Sanborn, A. Smogorzewska, A.D. Auerbach, E.A. Ostrander, and N.C.S. Program, Massively parallel sequencing, aCGH, and RNA-Seq technologies provide a comprehensive molecular diagnosis of Fanconi anemia. Blood, 2013. 121(22): p. e138-48.

Flynn, E.K., A. Kamat, F.P. Lach, F.X. Donovan, D.C. Kimble, N. Narisu, E. Sanborn, F. Boulad, S.M. Davies, A.P. Gillio, 3rd, R.E. Harris, M.L. MacMillan, J.E. Wagner, A. Smogorzewska, A.D. Auerbach, E.A. Ostrander, and S.C. Chandrasekharappa, Comprehensive analysis of pathogenic deletion variants in Fanconi anemia genes. Hum Mutat, 2014. 35(11): p. 1342-53.

K. A. Rickman, F. P. Lach, A. Abhyankar, F. X. Donovan, E. Sanborn, J. Kennedy, C.Sougnez, S. Gabriel, R. E. Harris, O. Elemento, S. C. Chandrasekharappa, D. Schindler, A. D. Auerbach, and A. Smogorzewska. Deficiency of UBE2T, E2 ubiquitin ligase necessary for FANCD2 and FANCI ubiquitination, leads to Fanconi anemia. Cell Reports 2015 Jun 24. pii: S2211-1247(15)00612-9.

Kutler DI, Patel KR, Auerbach AD, Kennedy J, Lach FP, Sanborn E, Cohen MA, Kuhel WI, A. Smogorzewska. Natural history and management of Fanconi anemia patients with head and neck cancer: A 10 year follow-up. Laryngoscope. Laryngoscope. 2016 Apr;126(4):870-9.

Donovan FX, Kimble DC, Kim Y., Lach FP, Kamat A, Jones M, Harper U, Tryon R, Wagner JE, MacMillan ML, Ostrander EA, Auerbach AD, Smogorzewska A. Chandrasekharappa SC.  Paternal or maternal uniparental disomy of chromosome 16 resulting in homozygosity of a mutant allele causes Fanconi anemia.  Hum Mutat. 2016 May;37(5):465-8

Kimble DC, Lach FP, Gregg SQ, Donovan FX, Flynn EK, Kamat A, Young A, Vemulapalli M, Thomas JW, Mullikin JC, Auerbach AD, Smogorzewska A#, Chandrasekharappa SC#.  A comprehensive approach to identification of pathogenic FANCA variants in Fanconi anemia patients and their families. Hum Mutat. 2018; 39(2):237-254 #co-corresponding authors

Asur RS, Kimble DC, Lach FP, Gregg SQ, Donovan FX, Flynn EK, Kamat A, Young A, Vemulapalli M, Thomas JW, Mullikin JC, Auerbach AD, Smogorzewska A, Chandrasekharappa SC.  Somatic 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 Med, 2018; 6(1):77-91

Donovan, F.X., A. Solanki, M. Mori, N. Chavan, M. George, C.S. Kumar, Y. Okuno, H. Muramastsu, K. Yoshida, A. Shimamoto, A. Takaori-Kondo, H. Yabe, S. Ogawa, S. Kojima, M. Yabe, R. Ramanagoudr-Bhojappa, A. Smogorzewska, S. Mohan, A. Rajendran, A.D. Auerbach, M. Takata, S.C. Chandrasekharappa, and B.R. Vundinti, A founder variant in the South Asian population leads to a high prevalence of FANCL Fanconi anemia cases in India. Hum Mutat. 2020 Jan;41(1):122-128. doi: 10.1002/humu.23914.

Jung, M., R. Ramanagoudr-Bhojappa, S. van Twest, R.O. Rosti, V. Murphy, W. Tan, F.X. Donovan, F.P. Lach, D.C. Kimble, C.S. Jiang, R. Vaughan, P. Mehta, F. Pierri, C. Doufour, A.D. Auerbach, A.J. Deans#, A. Smogorzewska#, and S.C. Chandrasekharappa#. Clinical severity in Fanconi anemia correlates with residual function of FANCB missense variants. Blood. 2020 Feb 27:blood.2019003249. doi: 10.1182/blood.2019003249.#co-corresponding authors.

Schultz-Rogers L*., Lach F.P*., Rickman K.A., Ferrer A., Mangaonkar A.A., Schwab T.L., Schmitz C.T., Clark K.J., Dsouza N.R., Zimmermann M.T., Litzow M., Jacobi N., Klee E.W., Smogorzewska A.#,**, Patnaik M.M., #,**  Homozygous missense variant in UBE2T is associated with mild Fanconi anemia phenotype.  Haematologica. 2020 Jul 9:haematol.2020.259275. doi: 10.3324/haematol.2020.259275. Online ahead of print. #co-corresponding authors, *,**equal contribution

Lach FP, Singh S, Rickman KA, Ruiz PD, Noonan RJ, Hymes KB, DeLacure MD, Kennedy JA, Chandrasekharappa SC, Smogorzewska A.  Esophageal Cancer as initial presentation of Fanconi anemia in patients with hypomorphic FANCA mutations, Cold Spring Harb Mol Case Stud. 2020 Nov 10:mcs.a005595. doi: 10.1101/mcs.a005595.

Thongthip S, Conti BA, Lach FP, Smogorzewska A. Suppression of non-homologous end joining does not rescue DNA repair defects in Fanconi anemia patient cells. Cell Cycle. 2020 Oct;19(19):2553-2561. doi: 10.1080/15384101.2020.1810394.

Jung M., Mehta P.A., Jiang C.S., Rosti R.O., Usleaman G., Correa da Rosa J.M., Lach FP, Goodridge E., Auerbach A.D., Davies S.M., Smogorzewska A., Boulad F. Comparison of the Clinical Phenotype and Haematological Course of Siblings with Fanconi Anemia. Br J Haematol. 2020 Aug 31. doi: 10.1111/bjh.17061.

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