Publications

2017

Dietz AC, Duncan CN, Alter BP, Bresters D, Cowan MJ, Notarangelo L, Rosenberg PS, Shenoy S, Skinner R, Walters MC, Wagner J, Baker KS, Pulsipher MA. The Second Pediatric Blood and Marrow Transplant Consortium International Consensus Conference on Late Effects after Pediatric Hematopoietic Cell Transplantation (HCT): Defining the Unique Late Effects of Children undergoing HCT for Immune Deficiencies, Inherited Marrow Failure Disorders, and Hemoglobinopathies. Biology of Blood and Marrow Transplantation. 23:24-29, 2017. PMID: 27737772. PMCID: PMC5267609.

Doulatov S, Vo LT, Macari ER, Wahlster L, Taylor AM, Gupta M, Barragan J, McGrath K, Humphries JM, Narla A, Alter BP, Gazda HT, Sieff CA, Agarwal S, Beggs AH, Ebert BL, Schlaeger TM, Zon LI, Daley GQ: Drug discovery using induced pluripotent stem cells identifies autophagy as a therapeutic pathway for anemia. Science Translational Medicine Feb 8:9:376, 2017. PMID 28179501.

Khincha PP, Bertuch AA, Agarwal S, Townsley DM, Young NS, Keel S, Shimamura A, Boulad F, Simoneau T,Justino H, Kuo C, Artandi S, McCaslin C, Cox DW, Chaffee S, Collins BF, Giri N, Alter BP, Raghu G, Savage SA: Pulmonary arteriovenous malformations: an uncharacterized phenotype of dyskeratosis congenita and related telomere biology disorders. European Respiratory Journal. 49:1601640, 2017. PMID: 27824607

2016

Alter BP, Giri N: Thinking of VACTERL-H? Rule out Fanconi Anemia according to PHENOS. American Journal of Medical Genetics Part A. 170A(6): 1520-1524, 2016. PMID: 27028275.

Burris AM, Ballew BJ, Kentosh JB, Turner CE, Norton SA, NCI DCEG Cancer Genomics Research Laboratory, NCI DCEG Cancer Sequencing Working Group, Giri N, Alter BP, Nellan A, Gamper C, Hartman KR, Savage SA: Hoyeraal-Hreidarsson Syndrome Due to PARN Mutations: Fourteen Years of Follow-up. Pediatric Neurology 56: 62-68, 2016. PMID: 26810774, PMCID: PMC4789174.

Gadalla S, Khincha P, Katki H, Giri N, Wong J, Spellman S, Yanovski J, Han J, De Vivo I, Alter BP, Savage S. The limitations of qPCR telomere length measurement in diagnosing Dyskeratosis Congenita. Genetics & Genomic Medicine. 4(4): 475-479, 2016. PMID: 27468421, PMCID: PMC4947866.

Kalejaiye A, Giri N, Brewer CC, Zalewski CK, King KA, Adams CD, Rosenberg PS, Kim HJ, Alter BP: Otologic Manifestations of Fanconi Anemia and Other Inherited Bone Marrow Failure Syndromes. Pediatric Blood & Cancer. 63:2139-2145, 2016. PMID: 27428025.

Khan NE, Rosenberg PS, Alter BP: Preemptive bone marrow transplantation and event-free survival in Fanconi anemia. Biology of Blood and Marrow Transplantation. 22: 1888-1892, 2016. PMID: 27345141.

Savage SA, Ballew BJ, Giri N, Chandrasekharappa S, Ameziane N, de Winter J, Alter BP: Novel FANCI mutations in Fanconi anemia with VACTERL association. American Journal of Medical Genetics Part A. 170A: 386-391, 2016. PMID: 26590883.

Shankar RK, Giri N, Lodish MB, Butman JA, Patronas NJ, Sinaii N, Kiel M, Alter BP, Stratakis CA: Pituitary abnormalities in patients with Fanconi anemia. Clinical Endocrinology 84:305-309, 2016. PMID: 26300308.

Xu J, Khincha P, Giri N, Alter BP, Savage SA, Wong JMY: Investigation of chromosome X inactivation and clinical phenotypes in female carriers of DKC1 mutations. American Journal of Hematology. 91:1215-1220, 2016. PMID: 27570172.

2015

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.

Giri N, Alter BP, Penrose K, Falk RT, Pan Y, Savage SA, Williams M, Kemp TJ, Pinto LA: Immune status of patients with inherited bone marrow failure syndromes. American Journal of Hematology 90:702-708, 2015. PMID: 25963299, PMCID: PMC4509864.

Hamilton JG, Hutson SP, Frohnmayer AE, Han PKJ, Peters JA, Carr AG, Alter BP: Genetic information-seeking behaviors and knowledge among family members and patients with Inherited Bone Marrow Failure Syndromes. Journal of Genetic Counseling 24:760-770, 2015. PMID: 25540896, PMCID 4485598.

Hutson SP, Han PKJ, Hamilton JG, Rife SC, Al-Rahawan MM, Moser RP, Duty SP, Anand S, Alter BP: The use of hematopoietic stem cell transplantation in Fanconi anemia patients: a survey of decision-making among families in the United States and Canada. Health Expectations 18: 929-941, 2015. PMID: 23621292, PMCID: PMC3766454.

Khan NE, Rosenberg PS, Lehmann HP, Alter BP: Preemptive Bone Marrow Transplantation for FANCD1/BRCA2. Biology of Blood and Marrow Transplantation. 21:1796-1801, 2015. PMID: 26183081, PMCID 4568159.

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.

2014

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.

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.

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.

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.

2013

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.

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.

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.

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.

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.

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.

2011

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.

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.

2010

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.

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.

2009

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.

2008

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.

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.

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.

2007

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, 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.

2006

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.

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, 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.

2004

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.

2003

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

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.

2002

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

2001

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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
Email: NCI.IBMFS@westat.com