Alter BP, Giri N, Savage SA, Rosenberg PS. Telomere length in inherited bone marrow failure syndromes. Haematologica 2015;100:49-54.

Balakumaran A, Mishra PJ, Pawelczyk E, Yoshizawa S, Sworder B, Cherman N, Kuznetsov SA, Bianco P, Giri N, Savage SA, Merlino G, Dumitriu B, Dunbar CE, Young NS, Alter BP, Robey PG. Bone marrow skeletal stem/progenitor cell defects in dyskeratosis congenita and telomere biology disorders. Blood 2015;125:793-802.

Lebel A, Yacobovich J, Krasnov T, Koren A, Levin C, Kaplinsky C, Ravel-Vilk S, Laor R, Attias D, Ben Barak A, Shtager D, Stein J, Kuperman A, Miskin H, Dgany O, Giri N, Alter BP, Tamary H. Genetic analysis and clinical picture of severe congenital neutropenia in Israel. Pediatric Blood and Cancer 2015;62:103-108.

Petryk A, Shankar RK, Giri N, Hollenberg AN, Rutter MM, Nathan B, Lodish M, Alter BP, Stratakis CA, Rose SR. Endocrine disorders in Fanconi Anemia: Recommendations for screening and treatment. Journal of Clinical Endocrinology and Metabolism 2015;100:803-811.

Sklavos  MM, Stratton P, Giri N, Alter BP, Savage SA, Pinto LA. Reduced serum levels of anti-Müllerian hormone in females with inherited bone marrow failure syndromes. Journal of Clinical Endocrinology and Metabolism 2015;100:E197-203.


Alter BP. Pearson syndrome in a Diamond-Blackfan anemia cohort. Blood 2014;124:312-313.

Alter BP. Fanconi anemia and the development of leukemia. Best Practice & Research Clinical Haematology 2014;27:214-221.

Alter BP, Giri N, Pan Y, Savage SA, Pinto LA. Antibody response to human papillomavirus vaccine in subjects with inherited bone marrow failure syndromes. Vaccine 2014;32:1169-1173.

Alter BP, Kupfer G. Fanconi anemia. GeneReviews at GeneTests: Medical Genetics Information Resource [database online]. Copyright, University of Washington, Seattle, 1993-2015. Available at

Fargo JH, Rochowski A, Giri N, Savage SA, Olson SB, Alter BP. Comparison of chromosome breakage in non-mosaic and mosaic Fanconi anemia patients, relatives, and other inherited bone marrow failure syndrome patients. Cytogenetic and Genome Research 2014;144:15-27.

Khincha PP, Wentzensen IM, Giri N, Alter BP, Savage SA. Response to androgen therapy in patients with dyskeratosis congenita. British Journal of Haematology 2014;165:349-357.

Kocak H, Ballew BJ, Bisht K, Eggebeen R, Hicks BD, Suman S, O’Neil A, Giri N, Maillard I, Alter BP, Keegan CE, Nandakumar J, Savage SA. Hoyeraal-Hreidarsson syndrome caused by a germline mutation in the TEL patch of the telomere protein TPP1. Genes and Development 2014;28:2090-2102.

Mirabello L, Macari ER, Jessop L, Ellis SR, Myers T, Giri N, Taylor AM, McGrath KE, Humphries JM,  Ballew BJ, Yeager M, Boland JF, He J, Hicks BD, Burdett L, Alter BP, Zon L, Savage SA. Whole-exome sequencing and functional studies identify RPS29 as a novel gene mutated in multi-case Diamond-Blackfan anemia families. Blood 2014;124:24-32.

Shimamura A, Alter BP. Inherited aplastic anemia syndromes. In: Wintrobe’s Clinical Hematology, 13th edition, JP Greer, DA Arber, BE Glader, AF List, RT Means, F Paraskevas, GM Rodgers, eds, Lippincott Williams & Wilkins, Baltimore, 2014, pp 954-964.

Sklavos MM, Giri N, Stratton P, Alter BP, Pinto LA. Anti-Müllerian hormone deficiency in females with Fanconi anemia. Journal of Clinical Endocrinology and Metabolism 2014;99:1608-1614.

Spinner MA, Sanchez LA, Hsu AP, Shaw PA, Zerbe CS, Calvo KR, Arthur DC, Gu W, Gould CM, Brewer CC, Cowen EW, Freeman AF, Olivier KN, Uzel G, Zelazny AM, Daub JR, Spalding CD, Claypool RJ, Barnhart LA, Frein C, Giri NK, Alter BP, Mace EM, Orange JS, Cuellar-Rodriguez J, Hickstein DD, Holland SM. GATA2 deficiency: a protean disorder of hematopoiesis, lymphatics and immunity. Blood 2014;123:809-821.

Stewart D, Pemov A, Johnston JJ, Sapp JC, Yeager M, He J, Boland JF, Burdette LA, Brown C, Gatti RA, Alter BP, Biesecker LG, Savage SA. Dubowitz syndrome is a syndrome complex comprised of multiple, genetically distinct and phenotypically overlapping disorders. PLOS One 2014;9(6):e98686.


Alter BP, Giri N, Savage SA, Quint WGV, de Koning MNC, Schiffman M. Squamous cell carcinomas in patients with Fanconi anemia and dyskeratosis congenita: a search for human papillomavirus. International Journal of Cancer 2013;133:1513-1515.

Alter BP, Rosenberg PS. VACTERL-H association and Fanconi anemia. Molecular Syndromology 2013;4:87-93.

Alter BP, Rosenberg PS, Day T, Menzel S, Giri N, Savage SA, Thein SL. Genetic regulation of fetal hemoglobin in inherited bone marrow failure syndromes. British Journal of Haematology 2013;162:542-546.

Ballew BJ, Joseph V, De S, Sarek G, Vannier J-B, Stracker T, Schrader KA, Small TN, O’Reilly R, Manschreck C, Harlan Fleischut  MM, Zhang L, Sullivan J, Stratton K, Yeager M, Jacobs K, Giri N, Alter BP, Boland J, Burdett L, Offit K, Boulton SJ, Savage SA, Petrini JHJ. A recessive founder mutation in regulator of telomere elongation helicase 1, RTEL1, underlies severe immunodeficiency and features of Hoyeraal Hreidarsson syndrome. PLOS Genetics 2013;9:e1003695.

Ballew BJ, Yeager M, Jacobs K, Giri N, Boland J, Burdett L, Alter BP, Savage SA. Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in Dyskeratosis congenita. Human Genetics 2013;132:473-480.

Fargo JH, Kratz CP, Giri N, Savage SA, Wong C, Backer K, Alter BP, Glader B. Erythrocyte adenosine deaminase: Diagnostic value for Diamond-Blackfan anemia. British Journal of Haematology 2013;160:547-554.

Gadalla SM, Sales-Bonfim C, Carreras J, Alter BP, Anttin JH, Ayas M, Bodhi P, Davis J, Davies SM, Deconinck E, Deeg J, Duerst RE, Fasth A, Ghavamzadeh A, Giri N, Goldman FD, Kolb EA, Krance R, Kurtzberg J, Leung WH, Srivastava A, Or R, Richman CM, Rosenberg PS, Sanchez de Toledo Codina J, Shenoy S, Socié G, Tolar J, Williams KM, Eapen M, Savage SA. Outcomes of allogeneic hematopoietic cell transplant in patients with dyskeratosis congenita. Biology of Blood and Marrow Transplantation 2013;19:1238-1243.

Hamilton JG, Hutson SP, Moser RP, Kobrin SC, Frohnmayer AE, Alter BP, Han PKJ. Sources of uncertainty and their association with medical decision making: Exploring mechanisms in Fanconi anemia. Annals of Behavioral Medicine 2013;46:204-216.

Lipton JM, Alter BP. Fanconi anemia. Medscape Reference. Updated June 24, 2013. Available at:

Matsui K, Giri N, Alter BP, Pinto LA. Cytokine production by bone marrow mononuclear cells in inherited bone marrow failure syndromes. British Journal of Haematology 2013;163:81-92.

Rogers ZR, Alter BP. Bone marrow failure syndromes. In de Alarcon P, Werner EJ, Christensen RD, eds, Neonatal Hematology, Pathogenesis, Diagnosis, and Management of Hematologic Problems, 2nd Ed., Cambridge University Press, pp 47-64, 2012.


Alter BP, Rosenberg PS, Giri N, Baerlocher GM, Lansdorp PM, Savage SA. Telomere length is associated with disease severity and declines with age in dyskeratosis congenita. Haematologica 2012 Mar;97(3):353-9.

Boztug K, Rosenberg PS, Dorda M, Banka S, Moulton T, Curtin J, Rezaei N, Corns J, Innis JW, Avci Z, Tran HC, Pellier I, Pierani P, Fruge R, Parvaneh N, Mamishi S, Mody R, Darbyshire P, Motwani J, Murray J, Buchanan GR, Newman WG, Alter BP, Boxer LA, Donadieu J, Welte K, Klein C. Extended spectrum of human glucose-6-phosphatase catalytic subunit 3 deficiency: Novel genotypes and phenotypic variability in severe congenital neutropenia. J Pediatr 2012 Apr;160(4):679-683.e2.

de Vries Y, Lwiwski N, Levitus M, Kuyt B, Israels SJ, Arwert F, Zwaan M, Greenberg CR, Alter BP, Joenje H, Meijers-Heijboer H. A Dutch Fanconi anemia FANCC founder mutation in Canadian Manitoba Mennonites. Anemia 2012;2012:865170.

Gadalla SM, Katki HA, Shebl FM, Giri N, Alter BP, Savage SA. The relationship between DNA methylation and telomere length in dyskeratosis congenita. Aging Cell 2012 Feb;11(1):24-8.

Rackley S, Pao M, Seratti GF, Giri N, Rasimas JJ, Alter BP, Savage SA. Neuropsychiatric conditions among patients with dyskeratosis congenita: a link with telomere biology? Psychosomatics 2012 May;53(3):230-5.

Rochowski A, Olson SB, Alonzo TA, Gerbing RB, Lange BJ, Alter BP. Patients with Fanconi anemia and AML have different cytogenetic clones than de novo cases of AML. Pediatr Blood Cancer 2012 Nov;59(5):922-4. Review.

Rochowski A, Rosenberg PS, Alonzo TA, Gerbing RB, Lange BJ, Alter BP. Estimation of the prevalence of Fanconi anemia among patients with de novo acute myelogenous leukemia who have poor recovery from chemotherapy. Leuk Res 2012 Jan;36(1):29-31.

Vlachos A, Rosenberg PS, Atsidaftos E, Alter BP, Lipton JM. Incidence of neoplasia in Diamond Blackfan anemia: A report from the Diamond Blackfan Anemia Registry. Blood 2012 Apr 19;119(16):3815-9.

Zeng XL, Thumati NR, Fleisig HB, Hukezalie KR, Savage SA, Giri N, Alter BP, Wong JM. The accumulation and not the specific activity of telomerase ribonucleoprotein determines telomere maintenance deficiency in X-linked dyskeratosis congenita. Hum Mol Genet 2012 Feb 15;21(4):721-9.


Batista LF, Pech MF, Zhong FL, Nguyen HN, Xie KT, Zaug AJ, Crary SM, Choi J, Sebastiano V, Cherry A, Giri N, Wernig M, Alter BP, Cech TR, Savage SA, Reijo Pera RA, Artandi SE. Telomere shortening and loss of self-renewal in dyskeratosis congenita induced pluripotent stem cells. Nature 2011 May 22;474(7351):399-402. doi: 10.1038/nature10084.

Dietz AC, Orchard PJ, Baker KS, Giller RH, Savage SA, Alter BP, Tolar J. Disease-specific hematopoietic cell transplantation: Nonmyeloablative conditioning regimen for dyskeratosis congenita. Bone Marrow Transplant 2011 Jan;46(1):98-104.

Giri N, Lee R, Faro A, Huddleston CB, White FV, Alter BP, Savage SA. Lung transplantation for pulmonary fibrosis in dyskeratosis congenita: Case report and systematic literature review. BMC Blood Disord 2011 Jun 15;11:3. doi: 10.1186/1471-2326-11-3.

Lipton JM, Alter BP. Fanconi anemia. Medscape Reference. Updated July 26, 2011.

Rochowski A, Sun C, Glogauer M, Alter BP. Neutrophil functions in patients with inherited bone marrow failure syndromes. Pediatr Blood Cancer 2011 Aug;57(2):306-9.

Rosenberg PS, Tamary H, Alter BP. How high are carrier frequencies of rare recessive syndromes? Contemporary estimates for Fanconi anemia in the United States and Israel. Am J Med Genet A 2011 Aug;155A(8):1877-83.

Savage SA, Giri N, Jessop L, Pike K, Plona T, Burdett L, Alter BP. Sequence analysis of the shelterin telomere protection complex genes in dyskeratosis congenita. J Med Genet 2011 Apr;48(4):285-8.

Zhong F, Savage SA, Shkreli M, Giri N, Jessop L, Myers T, Chen R, Alter BP, Artandi SE. Disruption of telomerase trafficking by TCAB1 mutation causes dyskeratosis congenita. Genes Dev 2011 Jan 1;25(1):11-6. doi: 10.1101/gad.2006411.


Alter BP, Giri N, Savage SA, Peters JA, Loud JT, Leathwood L, Carr AG, Greene MH, Rosenberg PS. Malignancies and survival patterns in the National Cancer Institute Inherited Bone Marrow Failure Syndromes Cohort Study. Br J Haematol 2010 Jul;150(2):179-88.

Alter BP, Kupfer G. Fanconi anemia (February 2011). In: GeneReviews at GeneTests: Medical Genetics Information Resource [database online]. Copyright, University of Washington, Seattle, 1997-2010.

Gadalla SM, Cawthon R, Giri N, Alter BP, Savage SA. Telomere length in blood, buccal cells, and fibroblasts from patients with inherited bone marrow failure syndromes. Aging (Albany NY) 2010 Nov;2(11):867-74.

Shimamura A, Alter BP. Pathophysiology and management of inherited bone marrow failure syndromes. Blood Rev 2010 May;24(3):101-22. Review. Erratum in: Blood Rev 2010 Jul-Sep;24(4-5):201.

Tamary H, Nishri D, Yacobovich J, Zilber R, Dgany O, Krasnov T, Aviner S, Stepensky P, Ravel-Vilk S, Bitan M, Kaplinsky C, Ben Barak A, Elhasid R, Kapelusnik J, Koren A, Levin C, Attias D, Laor R, Yaniv I, Rosenberg PS, Alter BP. Frequency and natural history of inherited bone marrow failure syndromes: The Israeli Inherited Bone Marrow Failure Registry. Haematologica 2010 Aug;95(8):1300-7.

Tsilou ET, Giri N, Weinstein S, Mueller C, Savage SA, Alter BP. Ocular and orbital manifestations of the inherited bone marrow failure syndromes: Fanconi anemia and dyskeratosis congenita. Ophthalmology 2010 Mar;117(3):615-22.


Alter BP, Giri N, Savage SA, Rosenberg PS. Cancer in dyskeratosis congenita. Blood 2009 Jun 25;113(26):6549-57. Review.

Mason III JO, Yunker JJ, Nixon PA, Vail RS, Tsilou E, Giri N, Alter BP. Proliferative retinopathy as a complication of aplastic anemia and dyskeratosis congenita. Retinal Cases & Brief Reports 3:259-262, 2009.

Savage SA, Alter BP. Dyskeratosis congenita. Hematol Oncol Clin North Am 2009 Apr;23(2):215-31.

Savage SA, Dokal I, Armanios M, Aubert G, Cowen EW, Domingo DL, Giri N, Greene MH, Orchard PJ, Tolar J, Tsilou E, Van Waes C, Wong JM, Young NS, Alter BP. Dyskeratosis congenita: The first NIH clinical research workshop. Pediatr Blood Cancer 2009 Sep;53(3):520-3.

Shimamura A, Alter BP. Inherited aplastic anemia syndromes. In: Wintrobe's Clinical Hematology, 12th edition, JP Greer, J Foerster, JN Lukens, GM Rodgers, F Paraskevas, BE Glader, DA Arber, RT Means, eds, Lippincott Williams & Wilkins, Baltimore, 2009, pp 1173-1184.


Atkinson JC, Harvey KE, Domingo DL, Trujillo MI, Guadagnini JP, Gollins S, Giri N, Hart TC, Alter BP. Oral and dental phenotype of dyskeratosis congenita. Oral Dis 2008 Jul;14(5):419-27.

Al-Rahawan MM, Alter BP, Bryant BJ, Elghetany MT. Bone marrow cell cycle markers in inherited bone marrow failure syndromes. Leuk Res 2008 Dec;32(12):1793-9.

Denny CC, Wilfond BS, Peters JA, Giri N, Alter BP. All in the family: Disclosure of "unwanted" information to an adolescent to benefit a relative. Am J Med Genet A 2008 Nov 1;146A(21):2719-24.

Rosenberg PS, Alter BP, Ebell W. Cancer risks in Fanconi anemia: Findings from the German Fanconi Anemia Registry. Haematologica 2008 Apr;93(4):511-7.

Savage SA, Alter BP. The role of telomere biology in bone marrow failure and other disorders. Mech Ageing Dev 2008 Jan-Feb;129(1-2):35-47. Review.

Savage SA, Giri N, Baerlocher GM, Orr N, Lansdorp PM, Alter BP. TINF2, a component of the shelterin telomere protection complex, is mutated in dyskeratosis congenita. Am J Hum Genet 2008 Feb;82(2):501-9.

Vlachos A, Ball S, Dahl N, Alter BP, Sheth S, Ramenghi U, Meerpohl J, Karlsson S, Liu JM, Leblanc T, Paley C, Kang EM, Leder EJ, Atsidaftos E, Shimamura A, Bessler M, Glader B, Lipton JM; Participants of Sixth Annual Daniella Maria Arturi International Consensus Conference. Diagnosing and treating Diamond Blackfan anaemia: Results of an international clinical consensus conference. Br J Haematol 2008 Sep;142(6):859-76.


Alter BP. Diagnosis, genetics, and management of inherited bone marrow failure syndromes. Hematology Am Soc Hematol Educ Program 2007:29-39. Review.

Alter BP, Baerlocher GM, Savage SA, Chanock SJ, Weksler BB, Willner JP, Peters JA, Giri N, Lansdorp PM. Very short telomere length by flow fluorescence in situ hybridization identifies patients with dyskeratosis congenita. Blood 2007 Sep 1;110(5):1439-47.

Alter BP, Rosenberg PS. Granulocyte colony-stimulating factor and severe aplastic anemia. Blood 2007 May 15;109(10):4589; author reply 4589-90.

Alter BP, Rosenberg PS, Brody LC. Clinical and molecular features associated with biallelic mutations in FANCD1/BRCA2. J Med Genet 2007 Jan;44(1):1-9.

Giri N, Batista DL, Alter BP, Stratakis CA. Endocrine abnormalities in patients with Fanconi anemia. J Clin Endocrinol Metab 2007 Jul;92(7):2624-31.

Giri N, Pitel PA, Green D, Alter BP. Splenic peliosis and rupture in patients with dyskeratosis congenita on androgens and granulocyte colony-stimulating factor. Br J Haematol 2007 Sep;138(6):815-7.

Hutson SP, Alter BP. Experiences of siblings of patients with Fanconi anemia. Pediatr Blood Cancer 2007 Jan;48(1):72-9.

Tamary H, Alter BP. Current diagnosis of inherited bone marrow failure syndromes. Pediatr Hematol Oncol 2007 Mar;24(2):87-99. Review.


Alter BP. Inherited forms of aplastic anemia: The inherited bone marrow failure syndromes (IBMFS). In: Current Pediatric Therapy, 18th edition, FD Burg, JR Ingelfinger, RA Polin, AA Gershon, eds, Elsevier, Philadelphia, 2006, pp 938-941.

Alter BP. The association between FANCD1/BRCA2 mutations and leukaemia. Br J Haematol 2006 May;133(4):446-8; author reply 448.

Al-Rahawan MM, Giri N, Alter BP. Intensive immunosuppression therapy for aplastic anemia associated with dyskeratosis congenita. Int J Hematol 2006 Apr;83(3):275-6.

Bagby GC, Alter BP. Fanconi anemia. Semin Hematol 2006 Jul;43(3):147-56. Review.

Braun M, Giri N, Alter BP, Cowen EW. Thrombocytopenia, multiple mucosal squamous cell carcinomas, and dyspigmentation. J Am Acad Dermatol 2006 Jun;54(6):1056-9.

Giri N, Alter BP. Acquired aplastic anemia. In: Current Pediatric Therapy, 18th edition, FD Burg, JR Ingelfinger, RA Polin, AA Gershon, eds, Elsevier, Philadelphia, 2006, pp 942-944.

Savage SA, Stewart BJ, Weksler BB Baerlocher GM, Lansdorp PM, Chanock SJ, Alter BP. Mutations in the reverse transcriptase component of telomerase (TERT) in patients with bone marrow failure. Blood Cells Mol Dis 2006 Sep-Oct;37(2):134-6.


Alter BP. Diamond-Blackfan anemia: A "cultural" diagnosis. Blood 105: 435-436, 2005.

Alter BP. Fanconi’s anemia, transplantation, and cancer. Pediatric Transplantation 9 (Suppl. 7): 81-86, 2005.

Alter BP, Joenje H, Oostra AB, Pals G. Fanconi anemia: Adult head and neck cancer and hematopoietic mosaicism. Arch Otolaryngol Head Neck Surg 2005 Jul;131(7):635-9.

Rosenberg PS, Alter BP, Socié G, Gluckman E. Secular trends in outcomes for Fanconi anemia patients who receive transplants: Implications for future studies. Biol Blood Marrow Transplant 2005 Sep;11(9):672-9.

Rosenberg PS, Socié G, Alter BP, Gluckman E. Risk of head and neck squamous cell cancer and death in patients with Fanconi anemia who did and did not receive transplants. Blood 2005 Jan 1;105(1):67-73.


Alter BP. Growth hormone and the risk of malignancy. Pediatr Blood Cancer 2004 Oct;43(5):534-5.

Rosenberg PS, Huang Y, Alter BP. Individualized risks of first adverse events in patients with Fanconi anemia. Blood 2004 Jul 15;104(2):350-5.

Velazquez I, Alter BP. Androgens and liver tumors: Fanconi's anemia and non-Fanconi's conditions. Am J Hematol 2004 Nov;77(3):257-67. Review.


Alter BP. Cancer in Fanconi anemia, 1927-2001. Cancer 2003 Jan 15;97(2):425-40. Review.

Alter BP, Elghetany MT. The CCC system: Is it really the answer to pediatric MDS? J Pediatr Hematol Oncol 2003 May;25(5):426-7; author reply 427-8.

Rosenberg PS, Greene MH, Alter BP. Cancer incidence in persons with Fanconi anemia. Blood 2003 Feb 1;101(3):822-6. Erratum in: Blood. 2003 Mar 15;101(6):2136.


Alter BP. Bone marrow failure syndromes in children. Pediatr Clin North Am 2002 Oct;49(5):973-88. Review.

Alter BP. Radiosensitivity in Fanconi's anemia patients. Radiother Oncol 2002 Mar;62(3):345-7.

Alter BP, Lipton JM: Bone marrow failure syndromes. In: Rudolph's Pediatrics, 21st edition, Appleton Lange, Norwalk, CT, 2003, pp 1562-1567.

Elghetany MT, Alter BP. P53 protein overexpression in bone marrow biopsies of patients with Shwachman-Diamond syndrome has a prevalence similar to that of patients with refractory anemia. Arch Pathol Lab Med 2002 Apr;126(4):452-5.

Dror Y. P53 protein overexpression in Shwachman-Diamond syndrome. Arch Pathol Lab Med 2002 Oct;126(10):1157-8; author reply 1158.

Freedman MH, Alter BP. Malignant myeloid transformation in congenital forms of neutropenia. Isr Med Assoc J 2002 Nov;4(11):1011-4.

Freedman MH, Alter BP. Risk of myelodysplastic syndrome and acute myeloid leukemia in congenital neutropenias. Semin Hematol 2002 Apr;39(2):128-33. Review.

Rothbaum R, Perrault J, Vlachos A, Cipolli M, Alter BP, Burroughs S, Durie P, Elghetany MT, Grand R, Hubbard V, Rommens J, Rossi T. Shwachman-Diamond syndrome: Report from an international conference. J Pediatr 2002 Aug;141(2):266-70. Review.


Alter BP. Modern review of congenital hypoplastic anemia. J Pediatr Hematol Oncol 2001 Aug-Sep;23(6):383-4.

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Individuals with one of the [glossary term:] inherited bone marrow failure [glossary term:] syndromes and their family members are encouraged to participate.

Phone: 1-800-518-8474 to speak with the referral nurse