B. Alter

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Germline mutation of MDM4, a major p53 regulator, in a familial syndrome of defective telomere maintenance

S. Savage, Eléonore Toufektchan, F. Toledo, 2020, Science Advances.

Population frequency of Fanconi pathway gene variants and their association with survival after hematopoietic cell transplant for severe aplastic anemia.

S. Savage, K. Jones, B. Zhu, 2020, Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation.

Cancer incidence in persons with Fanconi anemia.

P. Rosenberg, M. Greene, B. Alter, 2003, Blood.

Cancer in Fanconi anemia.

P. Rosenberg, M. Greene, B. Alter, 2003, Blood.

Cancer risks in Fanconi anemia: findings from the German Fanconi Anemia Registry

P. Rosenberg, B. Alter, W. Ebell, 2008, Haematologica.

Prevalence of pathogenic/likely pathogenic variants in the 24 cancer genes of the ACMG Secondary Findings v2.0 list in a large cancer cohort and ethnicity-matched controls

S. Puig, S. Chanock, Jia Liu, 2018, Genome Medicine.

Very short telomere length by flow fluorescence in situ hybridization identifies patients with dyskeratosis congenita.

S. Chanock, P. Lansdorp, S. Savage, 2007, Blood.

Cancer in dyskeratosis congenita.

P. Rosenberg, S. Savage, N. Giri, 2009, Blood.

The incidence of leukemia and mortality from sepsis in patients with severe congenital neutropenia receiving long-term G-CSF therapy.

Philip S Rosenberg, P. Rosenberg, M. Freedman, 2005, Blood.

Comparative genome analysis delimits a chromosomal domain and identifies key regulatory elements in the α globin cluster

Webb Miller, Ross C. Hardison, John F. Peden, 2001 .

Gamma delta beta-thalassemia due to a de novo mutation deleting the 5' beta-globin gene activation-region hypersensitive sites.

B. Alter, C. Dobkin, M. Driscoll, 1989, Proceedings of the National Academy of Sciences of the United States of America.

Disease-specific hematopoietic cell transplantation: nonmyeloablative conditioning regimen for dyskeratosis congenita

J. Tolar, S. Savage, B. Alter, 2011, Bone Marrow Transplantation.

Response to androgen therapy in patients with dyskeratosis congenita

S. Savage, N. Giri, B. Alter, 2014, British journal of haematology.

Whole-exome sequencing and functional studies identify RPS29 as a novel gene mutated in multicase Diamond-Blackfan anemia families.

L. Zon, T. Myers, M. Yeager, 2014, Blood.

Current Knowledge and Priorities for Future Research in Late Effects after Hematopoietic Cell Transplantation for Inherited Bone Marrow Failure Syndromes: Consensus Statement from the Second Pediatric Blood and Marrow Transplant Consortium International Conference on Late Effects after Pediatric Hem

J. Wagner, J. Tolar, S. Savage, 2017, Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation.

Inherited bone marrow failure syndromes: considerations pre- and posttransplant.

B. Alter, 2017, Hematology. American Society of Hematology. Education Program.

S. Savage, A. Bertuch, N. Giri, 2018, Blood advances.

Pregnancy in bone marrow failure syndromes: Diamond‐Blackfan anaemia and Shwachman‐Diamond syndrome

B. Alter, Manjusha Kumar, L. Lockhart, 1999, British journal of haematology.

Childhood red cell aplasia

B. Alter, 1980 .

Aplastic Anemia: Acquired and Inherited

N. Young, B. Alter, 1994 .

Incidence of neoplasia in Diamond Blackfan anemia: a report from the Diamond Blackfan Anemia Registry.

P. Rosenberg, B. Alter, J. Lipton, 2012, Blood.

Bone marrow failure syndromes.

B. Alter, 1991, Clinics in laboratory medicine.

TINF2, a component of the shelterin telomere protection complex, is mutated in dyskeratosis congenita.

N. Orr, P. Lansdorp, S. Savage, 2008, American journal of human genetics.

Reduced serum levels of anti-Müllerian hormone in females with inherited bone marrow failure syndromes.

S. Savage, N. Giri, B. Alter, 2015, The Journal of clinical endocrinology and metabolism.

Anti-Müllerian hormone deficiency in females with Fanconi anemia.

N. Giri, B. Alter, P. Stratton, 2014, The Journal of clinical endocrinology and metabolism.

ADutch Fanconi Anemia FANCC FounderMutation in CanadianManitobaMennonites

S. Israels, B. Alter, C. Greenberg, 2013 .

A Dutch Fanconi Anemia FANCC Founder Mutation in Canadian Manitoba Mennonites

H. Meijers-Heijboer, S. Israels, B. Alter, 2012, Anemia.

Frequency and natural history of inherited bone marrow failure syndromes: the Israeli Inherited Bone Marrow Failure Registry

P. Rosenberg, R. Elhasid, H. Tamary, 2008, Haematologica.

Effects of treatment with 5-azacytidine on the in vivo and in vitro hematopoiesis in patients with myelodysplastic syndromes.

C. Schiffer, B. Alter, J. Holland, 1993, Leukemia.

Pulmonary arteriovenous malformations: an uncharacterised phenotype of dyskeratosis congenita and related telomere biology disorders

G. Raghu, S. Savage, Suneet Agarwal, 2017, European Respiratory Journal.

Bone Mineral Density in Patients with Inherited Bone Marrow Failure Syndromes

S. Savage, C. Stratakis, N. Giri, 2017, Pediatric Research.

Immune status of patients with inherited bone marrow failure syndromes

S. Savage, N. Giri, B. Alter, 2015, American journal of hematology.

Telomere Length Is Associated with Disease Severity and Declines with Age in Dyskeratosis Congenita Early Release Paper Telomere Length Is Associated with Disease Severity and Declines with Age in Dyskeratosis Congenita

P. Rosenberg, P. Lansdorp, S. Savage, 2022 .

identifies patients with dyskeratosis congenita Very short telomere length by flow fluorescence in situ hybridization

S. Chanock, P. Lansdorp, S. Savage, 2011 .

Lung transplantation for pulmonary fibrosis in dyskeratosis congenita: Case Report and systematic literature review

S. Savage, N. Giri, B. Alter, 2011, BMC blood disorders.

Neutrophil functions in patients with inherited bone marrow failure syndromes

M. Glogauer, A. Rochowski, B. Alter, 2011, Pediatric blood & cancer.

Oral and dental phenotype of dyskeratosis congenita.

N. Giri, B. Alter, J. Atkinson, 2008, Oral diseases.

Diagnosis, genetics, and management of inherited bone marrow failure syndromes.

B. Alter, 2007, Hematology. American Society of Hematology. Education Program.

The CCC system: is it really the answer to pediatric MDS?

B. Alter, M. Elghetany, 2003, Journal of pediatric hematology/oncology.

Dyskeratosis Congenita: Clinical and Genetic Heterogeneity Report of a New Case and Review of the Literature

B. Alter, R. Drachtman, 1992, The American journal of pediatric hematology/oncology.

Dyskeratosis Congenita: Clinical and Genetic Heterogeneity

B. Alter, R. Drachtman, 1992 .

Effect of stem cell factor on in vitro erythropoiesis in patients with bone marrow failure syndromes.

B. Alter, R. O'reilly, R. Weinberg, 1992, Blood.

Treatment of dyskeratosis congenita with Granulocyte Colony‐Stimulating Factor and Erythropoietin

R. E. Hall, B. Alter, F. Gardner, 1997, British journal of haematology.

Molecular medicine and bone marrow failure syndromes.

B. Alter, 2000, The Journal of pediatrics.

Erythropoiesis in Fanconi's anemia

B. Alter, R. Weinberg, M. Knobloch, 1991 .

FANCONI'S ANAEMIA AND ITS VARIABILITY

B. Alter, 1994, British journal of haematology.

Hematologic abnormalities in Fanconi anemia.

B. Alter, 1995, Blood.

Fanconi's anemia and malignancies

B. Alter, 1996, American journal of hematology.

Prolonged administration of granulocyte colony-stimulating factor (filgrastim) to patients with Fanconi anemia: a pilot study.

David A. Williams, M. Freedman, B. Alter, 1996 .

Risk of myelodysplastic syndrome and acute myeloid leukemia in congenital neutropenias.

M. Freedman, B. Alter, Melvin H Freedman, 2002, Seminars in hematology.

Extended spectrum of human glucose-6-phosphatase catalytic subunit 3 deficiency: novel genotypes and phenotypic variability in severe congenital neutropenia.

P. Rosenberg, C. Klein, W. Newman, 2012, The Journal of pediatrics.

Genotype-phenotype and outcome associations in patients with Fanconi anemia: the National Cancer Institute cohort

N. Giri, B. Alter, L. J. McReynolds, 2022, Haematologica.

Cytokine production by bone marrow mononuclear cells in inherited bone marrow failure syndromes

N. Giri, B. Alter, L. Pinto, 2013, British journal of haematology.

Investigation of chromosome X inactivation and clinical phenotypes in female carriers of DKC1 mutations

S. Savage, N. Giri, B. Alter, 2016, American journal of hematology.

Bone marrow skeletal stem/progenitor cell defects in dyskeratosis congenita and telomere biology disorders.

B. Dumitriu, S. Savage, N. Young, 2015, Blood.

Endocrine disorders in Fanconi anemia: recommendations for screening and treatment.

C. Stratakis, N. Giri, B. Alter, 2015, The Journal of clinical endocrinology and metabolism.

Experiences of siblings of patients with Fanconi anemia

B. Alter, S. Hutson, 2007, Pediatric blood & cancer.

Endocrine abnormalities in patients with Fanconi anemia.

C. Stratakis, D. Batista, N. Giri, 2007, The Journal of clinical endocrinology and metabolism.

Squamous cell carcinomas in patients with Fanconi anemia and dyskeratosis congenita: A search for human papillomavirus

M. Schiffman, W. Quint, S. Savage, 2013, International journal of cancer.

Use of single nucleotide polymorphism arrays to identify a novel region of loss on chromosome 6q in squamous cell carcinomas of the oral cavity

J. Califano, D. Sidransky, W. Westra, 2004, Head & neck.

In reference to Natural history and management of fanconi anemia patients with head and neck cancer: A 10‐year follow‐up

P. Rosenberg, B. Alter, 2016, The Laryngoscope.

The effect of hydroxyurea on hemoglobin F in patients with myeloproliferative syndromes.

B. Alter, H. Gilbert, 1985, Blood.

Pure red cell aplasia associated with hepatitis C infection.

B. Alter, G. Carrum, C. Conlon, 1997, The American journal of the medical sciences.

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 Hemogl

P. Rosenberg, J Wagner, L. Notarangelo, 2017 .

Correlation of Leukocyte Telomere Length Measurement Methods in Patients with Dyskeratosis Congenita and in Their Unaffected Relatives

A. Aviv, S. Savage, H. Katki, 2017, International journal of molecular sciences.

Inherited bone marrow failure syndromes: considerations pre- and posttransplant.

B. Alter, 2017, Hematology. American Society of Hematology. Education Program.

Growth hormone and the risk of malignancy

B. Alter, 2004, Pediatric blood & cancer.

The mortality of acquired aplastic anemia in children.

F. Li, B. Alter, D. Nathan, 1972, Blood.

Re‐equilibration of imbalanced NAD metabolism ameliorates the impact of telomere dysfunction

S. Savage, V. Bohr, N. Giri, 2020, The EMBO journal.

Inhibition of hemoglobin synthesis by cyanate in vitro.

Y. Kan, B. Alter, D. Nathan, 1974, Blood.

Lipoprotein particle alterations due to androgen therapy in individuals with dyskeratosis congenita

S. Savage, R. Shamburek, N. Giri, 2021, EBioMedicine.

Antenatal Diagnosis Summary of Results a

B. Alter, 1990, Annals of the New York Academy of Sciences.

Production of mouse globin in heterokaryons of mouse erythroleukaemia cells and human fibroblasts.

A. Deisseroth, B. Alter, B. Forget, 1977, Journal of cell science.

Telomere length in blood, buccal cells, and fibroblasts from patients with inherited bone marrow failure syndromes

R. Cawthon, S. Savage, N. Giri, 2010, Aging.

Variable Clinical Features in a Large Family With Diamond Blackfan Anemia Caused by a Pathogenic Missense Mutation in RPS19

N. Giri, B. Alter, S. Cole, 2022, Frontiers in genetics.

Novel and known ribosomal causes of Diamond-Blackfan anaemia identified through comprehensive genomic characterisation

M. Yeager, L. Mirabello, S. Savage, 2017, Journal of Medical Genetics.

Pearson syndrome in a Diamond-Blackfan anemia cohort.

B. Alter, 2014, Blood.

Erythrocyte adenosine deaminase: diagnostic value for Diamond‐Blackfan anaemia

S. Savage, N. Giri, B. Alter, 2013, British journal of haematology.

Complex phenotype of dyskeratosis congenita and mood dysregulation with novel homozygous RTEL1 and TPH1 variants

S. Savage, N. Giri, B. Alter, 2018, American journal of medical genetics. Part A.

Understanding the evolving phenotype of vascular complications in telomere biology disorders

Anne R. Pariser, G. Raghu, F. Johnson, 2018, Angiogenesis.

Treatment of Diamond-Blackfan anemia with recombinant human interleukin-3.

B. Alter, G. Heller, J. Lipton, 1993, Blood.

Successful treatment of diamond‐blackfan anemia with interleukin 3

B. Alter, G. Heller, J. Lipton, 1993, Stem cells.

Dyskeratosis congenita: The first NIH clinical research workshop

M. Greene, J. Tolar, S. Savage, 2009, Pediatric blood & cancer.

Neutrophil elastase mutations and risk of leukaemia in severe congenital neutropenia

P. Rosenberg, P. Newburger, D. Link, 2007, British journal of haematology.

Antenatal Diagnosis of the Haemoglobinopathies

B. Alter, D. Nathan, 1975, Lancet.

Advances in the prenatal diagnosis of hematologic diseases.

B. Alter, 1984, Blood.

Clinical features and outcomes of patients with Shwachman-Diamond syndrome and myelodysplastic syndrome or acute myeloid leukaemia: a multicentre, retrospective, cohort study.

M. Norkin, M. Oberley, M. Fleming, 2019, The Lancet. Haematology.

Severe Hb S-beta+ thalassemia caused by IVS-I splice site mutations.

B. Alter, M. Steinberg, J. Li, 1998, Hemoglobin.

Outcomes of allogeneic hematopoietic cell transplantation in patients with dyskeratosis congenita.

P. Rosenberg, H. Deeg, J. Tolar, 2013, Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation.

The G gamma:A gamma composition of fetal hemoglobin in fetuses and newborns

B. Alter, 1979 .

Occupational Exposure to Formaldehyde, Hematotoxicity, and Leukemia-Specific Chromosome Changes in Cultured Myeloid Progenitor Cells

R. Hayes, N. Rothman, R. Vermeulen, 2010, Cancer Epidemiology, Biomarkers & Prevention.

A comprehensive functional characterization of BRCA2 variants associated with Fanconi anemia using mouse ES cell-based assay.

R. Byrd, B. Alter, L. Brody, 2011, Blood.

Prenatal diagnosis of hemoglobinopathies. A review of 15 cases.

J. Hobbins, B. Alter, D. Nathan, 1976, The New England journal of medicine.

Fanconi's Anemia, transplantation, and cancer

B. Alter, 2005, Pediatric transplantation.

Switch from fetal to adult hemoglobin is associated with a change in progenitor cell population.

B. Alter, J. Goldberg, R. Weinberg, 1983, The Journal of clinical investigation.

p53 protein overexpression in bone marrow biopsies of patients with Shwachman-Diamond syndrome has a prevalence similar to that of patients with refractory anemia.

B. Alter, M. Elghetany, 2002, Archives of pathology & laboratory medicine.

Phenotypes of Diamond Blackfan Anemia Patients with RPL35A Haploinsufficiency Due to 3q29 Deletion Compared with RPL35A Single Nucleotide Variants or Small Insertion/Deletions

S. Savage, M. Wlodarski, C. Niemeyer, 2018, Blood.

Increased risk of colon cancer and osteogenic sarcoma in Diamond-Blackfan anemia.

P. Rosenberg, K. Onel, B. Alter, 2018, Blood.

Splenic peliosis and rupture in patients with dyskeratosis congenita on androgens and granulocyte colony‐stimulating factor

N. Giri, B. Alter, P. Pitel, 2007, British journal of haematology.

Malignant myeloid transformation in congenital forms of neutropenia.

M. Freedman, B. Alter, 2002, The Israel Medical Association journal : IMAJ.

Shwachman-Diamond syndrome: report from an international conference.

J. Rommens, B. Alter, P. Durie, 2002, The Journal of pediatrics.

Pathogenic germline IKZF1 variant alters hematopoietic gene expression profiles

L. Mirabello, S. Savage, N. Giri, 2021, Cold Spring Harbor molecular case studies.

Gastrointestinal Hemorrhage: A Manifestation of the Telomere Biology Disorders.

S. Savage, Suneet Agarwal, A. Bertuch, 2020, The Journal of pediatrics.

Sequence analysis of the shelterin telomere protection complex genes in dyskeratosis congenita

L. Burdett, S. Savage, N. Giri, 2011, Journal of Medical Genetics.

Intensive Immunosuppression Therapy for Aplastic Anemia Associated with Dyskeratosis Congenita

N. Giri, B. Alter, M. Al-Rahawan, 2006, International journal of hematology.

Deletion of the A gamma-globin gene in G gamma-delta beta-thalassemia.

S. Orkin, B. Alter, Ç. Altay, 1979, The Journal of clinical investigation.

Late Effects Screening Guidelines after Hematopoietic Cell Transplantation for Inherited Bone Marrow Failure Syndromes: Consensus Statement From the Second Pediatric Blood and Marrow Transplant Consortium International Conference on Late Effects After Pediatric HCT.

J. Wagner, J. Tolar, S. Savage, 2017, Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation.

The Second Pediatric Blood and Marrow Transplant Consortium International Consensus Conference on Late Effects after Pediatric Hematopoietic Cell Transplantation: Defining the Unique Late Effects of Children Undergoing Hematopoietic Cell Transplantation for Immune Deficiencies, Inherited Marrow Fail

P. Rosenberg, J. Wagner, L. Notarangelo, 2017, Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation.

Constitutional Aplastic Anemia

B. Alter, 1990 .

The limitations of qPCR telomere length measurement in diagnosing dyskeratosis congenita

S. Savage, H. Katki, N. Giri, 2016, Molecular genetics & genomic medicine.

Bone marrow cell cycle markers in inherited bone marrow failure syndromes.

B. Alter, B. Bryant, M. Elghetany, 2008, Leukemia research.

Correlation of Telomere Length in Blood, Buccal Cells, and Fibroblasts From Patients with Inherited Bone Marrow Failure Syndromes.

R. Cawthon, P. Lansdorp, S. Savage, 2009 .

Secular trends in outcomes for Fanconi anemia patients who receive transplants: implications for future studies.

P. Rosenberg, B. Alter, G. Socié, 2005, Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation.

Second Allogeneic Hematopoietic Cell Transplantation for Patients with Fanconi Anemia and Bone Marrow Failure.

H. Deeg, J. Wagner, R. Gale, 2015, Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation.

FANCONI'S ANAEMIA AND ITS VARIABILITY

B. Alter, 1993 .

Lineage-specific hematopoietic growth factors.

P. Rosenberg, B. Alter, D. Dale, 2006, The New England journal of medicine.

Biology of Erythropoiesis a

B. Alter, 1994, Annals of the New York Academy of Sciences.

All in the family: Disclosure of “unwanted” information to an adolescent to benefit a relative

B. Wilfond, N. Giri, B. Alter, 2008, American journal of medical genetics. Part A.

Genetic analysis and clinical picture of severe congenital neutropenia in Israel

H. Tamary, N. Giri, B. Alter, 2015, Pediatric blood & cancer.

Low oxygen enhances sickle and normal erythropoiesis and fetal hemoglobin synthesis in vitro.

B. Alter, R. Weinberg, M. Knobloch, 1995, Hemoglobin.

Fanconi anemia and the development of leukemia.

B. Alter, 2014, Best practice & research. Clinical haematology.

Modulation of mouse hemoglobin expression by hydroxyurea and erythropoietin in vivo.

B. Alter, R. Weinberg, L. Susser, 1989, Progress in clinical and biological research.

Five Novel Deleterious Variants in FANCA, FANCF and FANCG Identified in Pakistani Fanconi Anemia Families Using Exome Sequencing

M. Yeager, S. Savage, K. Jones, 2020 .

Erythropoiesis is Distinct at Each Stage of Ontogeny

B. Alter, Li He, R. Weinberg, 1992, Pediatric Research.

Globin Chain Electrophoresis for Prenatal Diagnosis of β Thalassemia

B. Alter, B. Forget, E. Coupal, 1981 .

The association between FANCD1/BRCA2 mutations and leukaemia

B. Alter, 2006, British journal of haematology.

THE SCF AND C-KIT GENES IN DIAMOND-BLACKFAN ANEMIA

B. Alter, R. Drachtman, E. Geissler, 1992 .

Embryonic hemoglobins are expressed in definitive cells.

B. Alter, G. Hankins, Hong‐yuan Luo, 1999, Blood.

Bone marrow failure: a child is not just a small adult (but an adult can have a childhood disease).

B. Alter, 2005, Hematology. American Society of Hematology. Education Program.

RPS29 is Mutated in a Multi-Case Diamond Blackfan Anemia Family

K. Jacobs, M. Yeager, A. Hutchinson, 2012 .

Genotype-cancer association in patients with Fanconi anemia due to pathogenic variants in FANCD1 (BRCA2) or FANCN (PALB2).

N. Giri, B. Alter, L. J. McReynolds, 2021, Cancer genetics.

A murine model for the switch from fetal to adult hemoglobin during ontogeny.

B. Alter, S. C. Goff, S. Goff, 1980, Blood.

PRENATAL DIAGNOSIS OF HEMOGLOBINOPATHIES: THE NEW ENGLAND APPROACH *

S. Orkin, B. Alter, D. Nathan, 1980, Annals of the New York Academy of Sciences.

Prenatal diagnosis of hemoglobinopathies.

S. Orkin, B. Alter, D. Nathan, 1979, Clinics in perinatology.

Prenatal diagnosis of hemoglobinopathies: detection of alpha-thalassemia trait and of sickle cell disease in utero.

J. Hobbins, B. Alter, D. Nathan, 1977, Hemoglobin.

Antenatal diagnosis of hemoglobinopathies: social and technical considerations.

B. Alter, D. Nathan, F. Frigoletto, 1975, Seminars in hematology.

Detection of the sickle gene in the human fetus. Potential for intrauterine diagnosis of sickle-cell anemia.

Y. Kan, B. Alter, D. Nathan, 1972, The New England journal of medicine.

Kahn JM, Brazauskas R, Tecca HR, et al. Subsequent neoplasms and late mortality in children undergoing allogeneic transplantation for nonmalignant diseases. Blood Adv. 2020;4(9):2084-2094.

M. Norkin, B. George, R. Gale, 2020, Blood advances.

Red cell aplasia in children.

B. Alter, D. Nathan, 1979, Archives of disease in childhood.

Beyond the triad: Inheritance, mucocutaneous phenotype, and mortality in a cohort of patients with dyskeratosis congenita

P. Rosenberg, S. Savage, N. Giri, 2017, Journal of the American Academy of Dermatology.

Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in Dyskeratosis congenita

K. Jacobs, M. Yeager, L. Burdett, 2013, Human Genetics.

Neuropsychiatric conditions among patients with dyskeratosis congenita: a link with telomere biology?

S. Savage, N. Giri, B. Alter, 2012, Psychosomatics.

The relationship between DNA methylation and telomere length in dyskeratosis congenita

F. Shebl, S. Savage, H. Katki, 2012, Aging cell.

Ocular and orbital manifestations of the inherited bone marrow failure syndromes: Fanconi anemia and dyskeratosis congenita.

S. Savage, N. Giri, B. Alter, 2010, Ophthalmology.

PRENATAL DIAGNOSIS OF HAEMOGLOBINOPATHIES: A STATUS REPORT

B. Alter, 1981, The Lancet.

Cancer in the National Cancer Institute inherited bone marrow failure syndrome cohort after fifteen years of follow-up

P. Rosenberg, S. Savage, N. Giri, 2017, Haematologica.

Disruption of telomerase trafficking by TCAB1 mutation causes dyskeratosis congenita.

T. Myers, S. Savage, S. Artandi, 2011, Genes & development.

Cancer-Prone Inherited Bone Marrow Failure, Myelodysplastic, and Acute Myeloid Leukemia Syndromes

S. Savage, B. Alter, L. J. McReynolds, 2021, The Hereditary Basis of Childhood Cancer.

Malignancies and survival patterns in the National Cancer Institute inherited bone marrow failure syndromes cohort study

P. Rosenberg, M. Greene, S. Savage, 2010, British journal of haematology.

Gynaecological and reproductive health of women with telomere biology disorders

S. Savage, N. Giri, B. Alter, 2021, British journal of haematology.

CNS manifestations in patients with telomere biology disorders

S. Savage, E. Baker, A. Gropman, 2019, Neurology: Genetics.

Prognostic significance of pulmonary function tests in dyskeratosis congenita, a telomere biology disorder

S. Savage, N. Giri, B. Alter, 2019, ERJ Open Research.

The role of telomere biology in bone marrow failure and other disorders

S. Savage, B. Alter, 2008, Mechanisms of Ageing and Development.

Mutations in the reverse transcriptase component of telomerase (TERT) in patients with bone marrow failure.

S. Chanock, P. Lansdorp, S. Savage, 2006, Blood cells, molecules & diseases.

Pathophysiology and management of inherited bone marrow failure syndromes.

B. Alter, A. Shimamura, 2010, Blood reviews.

The Severe Chronic Neutropenia International Registry: 10-Year Follow-up Report.

Laurence Boxer, M. Freedman, K. Welte, 2006, Supportive cancer therapy.

Androgens and liver tumors: Fanconi's anemia and non‐Fanconi's conditions

B. Alter, Isela Velazquez, 2004, American journal of hematology.

Cancer in Fanconi anemia, 1927–2001

B. Alter, 2003, Cancer.

Fanconi's anaemia and pregnancy

M. Freedman, B. Alter, A. Auerbach, 1991, British journal of haematology.

Fetal erythropoiesis following bone marrow transplantation.

B. Alter, D. Nathan, T. Huisman, 1976, Blood.

GATA2 deficiency: a protean disorder of hematopoiesis, lymphatics, and immunity.

J. Orange, S. Holland, C. Brewer, 2014, Blood.

HEMATOPOIESIS AND STEM CELLS GATA 2 de fi ciency : a protean disorder of hematopoiesis , lymphatics , and immunity

J. Orange, S. Holland, C. Brewer, 2014 .

Drug discovery for Diamond-Blackfan anemia using reprogrammed hematopoietic progenitors

Melissa A. Kinney, L. Zon, G. Daley, 2017, Science Translational Medicine.

Comparison of Chromosome Breakage in Non-Mosaic and Mosaic Patients with Fanconi Anemia, Relatives, and Patients with Other Inherited Bone Marrow Failure Syndromes

S. Savage, A. Rochowski, N. Giri, 2014, Cytogenetic and Genome Research.

Thumbs and anemia.

B. Alter, 1978, Pediatrics.

How high are carrier frequencies of rare recessive syndromes? Contemporary estimates for Fanconi Anemia in the United States and Israel

P. Rosenberg, H. Tamary, B. Alter, 2011, American journal of medical genetics. Part A.

Variable globin chain synthesis in mouse erythroleukemia cells.

B. Alter, S. C. Goff, 1978, Blood.

F‐CELL REGULATION

B. Alter, D. Nathan, Blanche P. Alter, 1980, Annals of the New York Academy of Sciences.

Erythroid precursors in congenital hypoplastic (Diamond-Blackfan) anemia.

D. Housman, B. Alter, D. Nathan, 1978, The Journal of clinical investigation.

The effect of hemin in vitro and in vivo on human erythroid progenitor cells.

B. Alter, R. Weinberg, F. J. Kaye, 1987, International journal of cell cloning.

Fetal hemoglobin synthesis in erythroid cultures in hereditary persistence of fetal hemoglobin and beta o-thalassemia.

S. Orkin, S. Antonarakis, B. Alter, 1984, Blood.

Control of the simian fetal hemoglobin switch at the progenitor cell level.

B. T. Jackson, B. Alter, J. Lipton, 1981, The Journal of clinical investigation.

Globin Chain Electrophoresis: a New Approach to the Determination of the Gγ/Aγ Ratio in Fetal Haemoglobin and to Studies of Globin Synthesis

B. Alter, S. C. Goff, G. Efremov, 1980 .

Sickle and thalassemic erythroid progenitor cells are different from normal.

B. Alter, P. Giardina, R. Weinberg, 1992, Hemoglobin.

Fetal-Like Erythropoiesis during Recovery from Transient Erythroblastopenia of Childhood (TEC)

M. Link, B. Alter, 1981, Pediatric Research.

Globin synthesis in mouse erythroleukemia cells in vitro: a switch in beta chains due to inducing agent.

B. Alter, S. C. Goff, 1977, Blood.

Investigations of the simian ontogenic switch from fetal to adult hemoglobin at the progenitor cell level.

B. T. Jackson, B. Alter, D. Linch, 1986, The Journal of clinical investigation.

Deletion of the Ay-Globin Gene in G.-8,f-Thalassemia

S. Orkin, B. Alter, Ç. Altay, 1979 .

Fetal erythropoiesis in stress hematopoiesis.

B. Alter, 1979, Experimental hematology.

Hydroxyurea and hemoglobin F in patients with myeloproliferative syndromes.

B. Alter, H. Gilbert, 1985, Progress in clinical and biological research.

Stem cell factor amplifies newborn and sickle erythropoiesis in liquid

B. Alter, G. Chen, R. Weinberg, 2011 .

Stem cell factor amplifies newborn and sickle erythropoiesis in liquid cultures.

B. Alter, G. Chen, R. Weinberg, 1993, Blood.

Beta‐Thalassaemia Trait: Imprecision of Diagnosis at Birth

B. Alter, 1978, British journal of haematology.

Antenatal diagnosis of thalassaemia major.

J. Clegg, D. Weatherall, B. Alter, 1978, British medical journal.

Erythropoiesis in Fanconi's anemia.

B. Alter, R. Weinberg, M. Knobloch, 1991, Blood.

Effects of hemin on erythropoiesis.

B. Alter, R. Weinberg, J. Schofield, 1989, Advances in experimental medicine and biology.

Electrophoretic separation of human embryonic globin demonstrates "alpha-thalassemia" in human leukemia cell line K562.

B. Alter, S. C. Goff, 1980, Biochemical and biophysical research communications.

JUVENILE CHRONIC MYELOGENOUS LEUKAEMIA: THE ONLY EXAMPLE OF TRULY FETAL (NOT FETAL‐LIKE) ERYTHROPOIESIS

B. Alter, R. Weinberg, M. Weinblatt, 1990, British journal of haematology.

Comparison of erythroid progenitor cell growth in vitro in polycythemia vera and chronic myelogenous leukemia: only polycythemia vera has endogenous colonies.

B. Alter, P. Berk, R. Weinberg, 1989, Leukemia research.

Adult‘fetal‐like’erythropoiesis characterizes recovery from bone marrow transplantation

B. Alter, R. Weinberg, J. Brochstein, 1986, British journal of haematology.

Evidence for a clonal model for hemoglobin switching.

B. Alter, J. Lipton, D. Nathan, 1983, Progress in clinical and biological research.

Corrigendum to Pathophysiology and management of inherited bone marrow failure syndromes

B. Alter, A. Shimamura, 2010 .

Genetic regulation of fetal haemoglobin in inherited bone marrow failure syndromes

P. Rosenberg, S. Savage, N. Giri, 2013, British journal of haematology.

Classification and aetiology of the aplastic anaemias.

B. Alter, N. Potter, F. Li, 1978, Clinics in haematology.

Selective hemolysis of adult red blood cells: an aid to prenatal diagnosis of hemoglobinopathies.

B. Alter, G. Dover, J. Metzger, 1979, Blood.

Chemical evidence for the separation of G gamma and A gamma globin chains by polyacrylamide gel electrophoresis in urea and Triton X-100.

B. Alter, S. C. Goff, T. J. Klonowski, 1981, Preparative biochemistry.

The 6 ” y : ” y Composition of Fetal Hemoglobin in Fetuses and Newborns

B. Alter, 2005 .

Prenatal diagnosis of hemoglobinopathies and other hematologic diseases.

B. Alter, 1979, The Journal of pediatrics.

Diagnosing and treating Diamond Blackfan anaemia: results of an international clinical consensus conference

S. Karlsson, S. Sheth, T. Leblanc, 2008, British journal of haematology.

Primary structure of two nonallelicβ-globin chains from DBA/2 mice

B. Alter, R. Popp, M. Garrick, 1987, Biochemical Genetics.

Hemoglobin switching: a cellular model.

B. Alter, S. C. Goff, 1980, Science.

Transient erythroblastopenia of childhood (TEC) presenting as leukoerythroblastic anemia.

B. Alter, O. K. Mupanomunda, 1997, Journal of pediatric hematology/oncology.

Telomere length in inherited bone marrow failure syndromes

P. Rosenberg, S. Savage, N. Giri, 2014, Haematologica.

Prenatal diagnosis: general introduction, methodology, and review.

B. Alter, 1988, Hemoglobin.

Increased mouse minor hemoglobin during erythroid stress: a model for hemoglobin regulation.

B. Alter, C. Friend, J. Holland, 1982, Experimental hematology.

Gel electrophoretic separation of globin chains.

B. Alter, 1981, Progress in clinical and biological research.

Application of endonuclease mapping to the analysis and prenatal diagnosis of thalassemias caused by globin-gene deletion.

H. Lazarus, S. Orkin, J. Hobbins, 1978, The New England journal of medicine.

Prenatal diagnosis of hemoglobinopathies: a potential application of high performance liquid chromatography.

D. Stump, B. Alter, 1987, Hemoglobin.

Globin chain electrophoresis: a new approach to the determination of the G gamma/A gamma ratio in fetal haemoglobin and to studies of globin synthesis.

B. Alter, S. C. Goff, G. Efremov, 1980, British journal of haematology.

Increased synthesis of mouse minor hemoglobin in erythroid colonies: a cellular model for hemoglobin regulation.

B. Alter, A. S. Campbell, 1984, Experimental hematology.

Diamond-Blackfan anemia: a “cultural” diagnosis

B. Alter, 2005 .

Comparative genome analysis delimits a chromosomal domain and identifies key regulatory elements in the alpha globin cluster.

W Miller, W. Miller, R. Hardison, 2001, Human molecular genetics.

A Recessive Founder Mutation in Regulator of Telomere Elongation Helicase 1, RTEL1, Underlies Severe Immunodeficiency and Features of Hoyeraal Hreidarsson Syndrome

K. Offit, K. Jacobs, M. Yeager, 2013, PLoS genetics.

Research participant interest in primary, secondary and incidental genomic findings

M. Greene, S. Savage, N. Giri, 2016, Genetics in Medicine.

Cloning and characterization of the mouse alpha globin cluster and a new hypervariable marker

B. Alter, G. Gourdon, S. Mitra, 2009, Mammalian Genome.

Radiosensitivity in Fanconi's anemia patients.

B. Alter, 2002, Radiotherapy and oncology : journal of the European Society for Therapeutic Radiology and Oncology.

Telomere shortening and loss of self-renewal in dyskeratosis congenita iPS cells

T. Cech, Marius Wernig, S. Savage, 2011, Nature.

anemia Individualized risks of first adverse events in patients with Fanconi

P. Rosenberg, B. Alter, Y.-C. Huang, 2010 .

Individualized risks of first adverse events in patients with Fanconi anemia.

P. Rosenberg, B. Alter, Yi Huang, 2004, Blood.

Expansion of germline RPS20 mutation phenotype to include Diamond–Blackfan anemia

Lucas C. Reineke, L. Mirabello, S. Savage, 2020, Human mutation.

Hoyeraal-Hreidarsson Syndrome due to PARN Mutations: Fourteen Years of Follow-Up.

S. Savage, N. Giri, B. Alter, 2016, Pediatric neurology.

Hoyeraal-Hreidarsson syndrome caused by a germline mutation in the TEL patch of the telomere protein TPP1

S. Savage, N. Giri, B. Alter, 2014, Genes & development.

Dubowitz Syndrome Is a Complex Comprised of Multiple, Genetically Distinct and Phenotypically Overlapping Disorders

Leslie G. Biesecker, Douglas R. Stewart, Meredith Yeager, 2014, PloS one.

Fanconi anemia: adult head and neck cancer and hematopoietic mosaicism.

G. Pals, B. Alter, H. Joenje, 2005, Archives of otolaryngology--head & neck surgery.

Risk of head and neck squamous cell cancer and death in patients with Fanconi anemia who did and did not receive transplants.

P. Rosenberg, B. Alter, G. Socié, 2005, Blood.

Genotype-phenotype associations in Fanconi anemia: A literature review.

N. Giri, B. Alter, L. J. McReynolds, 2019, Blood reviews.

Thinking of VACTERL‐H? Rule out Fanconi Anemia according to PHENOS

N. Giri, B. Alter, 2016, American journal of medical genetics. Part A.

Clinical and molecular features associated with biallelic mutations in FANCD1/BRCA2

P. Rosenberg, B. Alter, L. Brody, 2006, Journal of Medical Genetics.

Calmodulin inhibitors improve erythropoiesis in Diamond-Blackfan anemia

L. Zon, G. Daley, B. Ebert, 2020, Science Translational Medicine.

Differential diagnosis of bone marrow failure syndromes guided by machine learning.

Christopher M. Siwy, Ronald M. Summers, Paul Liu, 2022, Blood.

Patients with Fanconi anemia and AML have different cytogenetic clones than de novo cases of AML

T. Alonzo, R. Gerbing, A. Rochowski, 2012, Pediatric blood & cancer.

Cancer survivorship--genetic susceptibility and second primary cancers: research strategies and recommendations.

C. Pui, C. Begg, N. Rothman, 2006, Journal of the National Cancer Institute.

Frequency of heterozygous germline pathogenic variants in genes for Fanconi anemia in patients with non-BRCA1/BRCA2 breast cancer: a meta-analysis

B. Alter, A. Best, 2020, Breast Cancer Research and Treatment.

Bone marrow failure syndromes in children.

B. Alter, 2002, Pediatric clinics of North America.

Novel FANCI mutations in Fanconi anemia with VACTERL association

S. Savage, N. Ameziane, N. Giri, 2015, American journal of medical genetics. Part A.

Polymorphisms in cytokine and cellular adhesion molecule genes and susceptibility to hematotoxicity among workers exposed to benzene.

R. Hayes, N. Rothman, S. Chanock, 2005, Cancer research.

Lack of effect of corticosteroids in W/Wv and Sl/Sld mice: These strains are not a model for steroid‐responsive Diamond‐Blackfan anemia

B. Alter, J. Lipton, Thomas Gaston, 1993, European journal of haematology.

Normal erythropoietic helper T cells in congenital hypoplastic (Diamond-Blackfan) anemia.

D. Housman, L. Chess, B. Alter, 1978, The New England journal of medicine.

Genotype-phenotype association and variant characterization in Diamond Blackfan anemia caused by pathogenic variants in RPL35A

S. Savage, M. Wlodarski, L. D. Da Costa, 2020, Haematologica.

Modern review of congenital hypoplastic anemia.

B. Alter, 2001, Journal of pediatric hematology/oncology.

Fanconi's Anemia: Current Concepts

B. Alter, 1992 .

Platelet number and function in Diamond-Blackfan anemia.

B. Alter, G. Buchanan, C. Holtkamp, 1981, Pediatrics.

The accumulation and not the specific activity of telomerase ribonucleoprotein determines telomere maintenance deficiency in X-linked dyskeratosis congenita.

S. Savage, N. Giri, B. Alter, 2012, Human molecular genetics.

CURRENT DIAGNOSIS OF INHERITED BONE MARROW FAILURE SYNDROMES

H. Tamary, B. Alter, 2007, Pediatric hematology and oncology.

Progressive reticulate skin pigmentation and anonychia in a patient with bone marrow failure.

S. Savage, N. Giri, B. Alter, 2017, Journal of the American Academy of Dermatology.

Leukemia and preleukemia in Fanconi's anemia.

B. Alter, 1992, Cancer genetics and cytogenetics.

VACTERL-H Association and Fanconi Anemia

B. Alter, P. Rosenberg, 2012, Molecular Syndromology.

Reticulocyte survival in sickle cell anemia: effect of cyanate.

Y. Kan, B. Alter, D. Nathan, 1972, Blood.

Bone marrow transplantation in two multiply transfused patients with thalassaemia major

B. Alter, B. Shank, C. Driscoll, 1986, British journal of haematology.

Toxic effects of high-dose cyanate administration in rodents.

Y. Kan, B. Alter, D. Nathan, 1974, Blood.

Agranulocytosis and thrombocytopenia, Blackfan-Diamond anaemia, and oral chelation

B. Alter, 1990, The Lancet.

The incidence and spectrum of congenital hand differences in patients with Fanconi anaemia: analysis of 48 patients

N. Giri, B. Alter, R. Feltbower, 2022, The Journal of hand surgery, European volume.

Fanconi anaemia: A syndrome with distinct subgroups

N. Giri, B. Alter, L. J. McReynolds, 2022, British journal of haematology.

The causes of Fanconi anemia in South Asia and the Middle East: A case series and review of the literature

M. Yeager, S. Savage, K. Jones, 2021, Molecular genetics & genomic medicine.

Otologic manifestations of Fanconi anemia and other inherited bone marrow failure syndromes

P. Rosenberg, C. Brewer, N. Giri, 2016, Pediatric blood & cancer.

Clonal chromosomal abnormalities in Fanconi's anaemia: what do they really mean?

V. Najfeld, B. Alter, A. Scalise, 1993, British journal of haematology.

Bone-marrow failure in children.

B. Alter, 1979, Pediatric annals.

Griscelli syndrome: rare neonatal syndrome of recurrent hemophagocytosis.

B. Alter, K. Sackey, M. Elghetany, 2001, Journal of pediatric hematology/oncology.

Arm anomalies and bone marrow failure may go hand in hand.

B. Alter, 1992, The Journal of hand surgery.

Prolonged administration of granulocyte colony-stimulating factor (filgrastim) to patients with Fanconi anemia: a pilot study.

D. Williams, M. Freedman, B. Alter, 1996, Blood.

Arms and the man or hands and the child: congenital anomalies and hematologic syndromes.

B. Alter, 1997, Journal of pediatric hematology/oncology.

Chromosomal Aberrations and Survival after Unrelated Donor Hematopoietic Stem Cell Transplant in Patients with Fanconi Anemia.

S. Chanock, M. Yeager, S. Savage, 2018, Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation.

Antineutrophil Antibodies Lead to Mistaken Identity in Severe Congenital Neutropenia.

K. Welte, B. Alter, D. Dale, 2005 .

Stable long‐term risk of leukaemia in patients with severe congenital neutropenia maintained on G‐CSF therapy

Philip S Rosenberg, Akiko Shimamura, P. Rosenberg, 2010, British journal of haematology.

Pregnancies in patients with inherited bone marrow failure syndromes in the NCI cohort.

S. Savage, N. Giri, B. Alter, 2017, Blood.

Hematotoxicity in Workers Exposed to Low Levels of Benzene

Nathaniel Rothman, Mustafa Dosemeci, Charles Rabkin, 2004, Science.

Preemptive Bone Marrow Transplantation and Event-Free Survival in Fanconi Anemia.

P. Rosenberg, B. Alter, Nicholas E. Khan, 2015, Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation.

The use of haematopoietic stem cell transplantation in Fanconi anaemia patients: a survey of decision making among families in the US and Canada

R. Moser, B. Alter, J. Hamilton, 2015, Health expectations : an international journal of public participation in health care and health policy.

Fanconi anemia: myelodysplasia as a predictor of outcome.

B. Alter, T. Uchida, G. Velagaleti, 2000, Cancer genetics and cytogenetics.

Serum alpha fetoprotein levels in Fanconi anaemia

N. Giri, B. Alter, 2018, British journal of haematology.

severe congenital neutropenia receiving long-term G-CSF therapy The incidence of leukemia and mortality from sepsis in patients with

P. Rosenberg, M. Freedman, K. Welte, 2013 .

Pregnancy outcomes in mothers of offspring with inherited bone marrow failure syndromes

S. Savage, N. Giri, B. Alter, 2018, Pediatric blood & cancer.

Prenatal diagnosis of hematologic diseases, 1986 update.

B. Alter, 1987, Acta haematologica.

Antenatal Diagnosis of Thalassemia: A Review a

B. Alter, 1985, Annals of the New York Academy of Sciences.

Response to Androgen Therapy and Side Effects in Patients with Dyskeratosis Congenita.

S. Savage, N. Giri, B. Alter, 2012 .

Proliferative retinopathy as a complication of dyskeratosis congenita.

Jacob J. Yunker, N. Giri, B. Alter, 2009, Retinal cases & brief reports.

Shwachman Diamond Syndrome: Narrow Genotypic Spectrum and Variable Clinical Features

S. Savage, K. Jones, N. Giri, 2022, Pediatric Research.

Brain tumors in patients with Fanconi's anemia.

B. Alter, M. Tenner, 1994, Archives of pediatrics & adolescent medicine.

Genetic Information-Seeking Behaviors and Knowledge among Family Members and Patients with Inherited Bone Marrow Failure Syndromes

B. Alter, J. Hamilton, P. Han, 2015, Journal of Genetic Counseling.

Inherited aplastic anemia syndromes

B. Alter, A. Shimamura, 2013 .

A new syndrome of familial aplastic anemia and chronic liver disease.

N. Young, A. Zipursky, B. Alter, 1997, Acta haematologica.

Myelodysplastic Syndrome and Gastrointestinal Carcinomas Characterize the Cancer Risk in Diamond Blackfan Anemia: A Report from the Diamond Blackfan Anemia Registry

P. Rosenberg, B. Alter, J. Lipton, 2016 .

Thrombocytopenia, multiple mucosal squamous cell carcinomas, and dyspigmentation.

N. Giri, B. Alter, E. Cowen, 2006, Journal of the American Academy of Dermatology.

Cancer Epidemiology in the National Cancer Institute Inherited Bone Marrow Failure Syndromes Cohort: First Report

P. Rosenberg, S. Savage, N. Giri, 2008 .

Dyskeratosis Congenita: Low Regimen-Related Toxicity Following Hematopoietic Cell Transplantation (HCT) Using a Reduced Intensity Conditioning Regimen.

J. Wagner, J. Tolar, B. Alter, 2007 .

Cancer in the National Cancer Institute Inherited Bone Marrow Failure Syndrome Cohort after 15 Years of Follow-up

P. Rosenberg, S. Savage, N. Giri, 2016 .

Response to the Letter to the Editor of CEBP - Response

R. Hayes, N. Rothman, R. Vermeulen, 2010 .

A cellular model for hemoglobin switching.

B. Alter, D. Nathan, 1982, Birth defects original article series.

Prenatal diagnosis of sickle-cell anemia and alpha G Philadelphia. Study of a Fetus also at risk for H b S/beta+-thalassemia.

J. Hobbins, B. Alter, D. Nathan, 1976, The New England journal of medicine.

Very Short Telomeres Are Characteristic of Dyskeratosis Congenita and Not Other Inherited Bone Marrow Failure Syndromes

P. Lansdorp, S. Savage, N. Giri, 2008 .

Delta beta-thalassemia in an African-American: identification of the deletion endpoints and PCR-based diagnosis.

B. Alter, M. Steinberg, B. Eng, 1994, Hemoglobin.

Systemic lupus erythematosus and ethosuccimide.

B. Alter, 1970, The Journal of pediatrics.

Preemptive Bone Marrow Transplantation for FANCD1/BRCA2.

H. Lehmann, P. Rosenberg, B. Alter, 2015, Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation.

Clinical and molecular features associated with biallelic mutations in FANCD 1 / BRCA 2

P. Rosenberg, B. Alter, L. Brody, 2006 .

Correction to: Frequency of heterozygous germline pathogenic variants in genes for Fanconi anemia in patients with non-BRCA1/BRCA2 breast cancer: a meta-analysis

B. Alter, A. Best, 2020, Breast Cancer Research and Treatment.

Sources of Uncertainty and Their Association with Medical Decision Making: Exploring Mechanisms in Fanconi Anemia

R. Moser, B. Alter, J. Hamilton, 2013, Annals of behavioral medicine : a publication of the Society of Behavioral Medicine.

Erythropoiesis following bone marrow transplantation for thalassemia major.

B. Alter, R. O'reilly, R. Weinberg, 1988, Birth defects original article series.

Outcomes of Pregnancies for Women with Severe Chronic Neutropenia with or without G-CSF Treatment.

P. Rosenberg, P. Newburger, D. Link, 2010 .

The Risk of Low Bone Mineral Density with Long-Term G-CSF Therapy for Severe Chronic Neutropenia.

P. Rosenberg, P. Newburger, D. Link, 2010 .

Prevalence of pathogenic/likely pathogenic variants in the 24 cancer genes of the ACMG Secondary Findings v2.0 list in a large cancer cohort and ethnicity-matched controls

S. Puig, S. Chanock, M. Greene, 2018, Genome Medicine.

The SCF and c-kit genes in Diamond-Blackfan anemia.

B. Alter, R. Drachtman, E. Geissler, 1992, Blood.

Understanding the evolving phenotype of vascular complications in telomere biology disorders

G. Raghu, F. Johnson, Y. Crow, 2018, Angiogenesis.

Aplastic Anemia, Pediatric Aspects.

B. Alter, Alter, 1996, The oncologist.

Diamond-Blackfan Anemia

L. D. Da Costa, B. Alter, N. Mohandas, 2019, Clinical Disorders and Experimental Models of Erythropoietic Failure.

anemia Individualized risks of first adverse events in patients with Fanconi

W. Hiddemann, P. Rosenberg, C. Pott, 2010 .

Human erythroid burst-forming unit: T-cell requirement for proliferation in vitro

D. Housman, L. Chess, B. Alter, 1978, The Journal of experimental medicine.

Evaluation and Management of Deficiency of Adenosine Deaminase 2: An International Consensus Statement.

R. Ichord, T. Torgerson, D. Kastner, 2023, JAMA network open.

Risk of cancer in heterozygous relatives of patients with Fanconi anemia.

N. Giri, B. Alter, L. J. McReynolds, 2021, Genetics in medicine : official journal of the American College of Medical Genetics.

Structural and functional heterogeneity of alpha spectrin mutations involving the spectrin heterodimer self-association site: relationships to hematologic expression of homozygous hereditary elliptocytosis and hereditary pyropoikilocytosis.

J. Lawler, B. Alter, J. Prchal, 1990, Blood.

Antibody response to human papillomavirus vaccine in subjects with inherited bone marrow failure syndromes.

S. Savage, N. Giri, B. Alter, 2014, Vaccine.

ERYTHROCYTE CHARACTERISTICS IN CHILDHOOD ACUTE LEUKEMIA

M. Weiner, B. Alter, M. Harris, 1987, Pediatric Research.

Erythrocyte characteristics in childhood acute leukemia.

M. Weiner, B. Alter, M. Harris, 1989 .

Heritable cancer: Rounding up the not so usual suspects

B. Alter, Blanche P. Alter, Jeffrey M. Lipton, 2017, Pediatric blood & cancer.

Prenatal diagnosis of hemoglobinopathies.

B. Alter, D. G. Nathan, Stuart H. Orkin, 1979, Clinics in perinatology.

Expression of the beta-thalassemia gene in the first trimester fetus.

B. Alter, D. Nathan, E. Huehns, 1975, Proceedings of the National Academy of Sciences of the United States of America.

1q21.1 deletion and a rare functional polymorphism in siblings with thrombocytopenia-absent radius–like phenotypes

P. Meltzer, Yonghong Wang, Yuan Jiang, 2019, Cold Spring Harbor molecular case studies.

Sweating in congenital heart disease.

R. Rowe, B. Alter, E. Czapek, 1968, Pediatrics.

New murine globin bands on electrophoresis may not be new globin chains.

B. Alter, A. S. Campbell, 1982, Hemoglobin.

Prenatal diagnosis of hemoglobinopathies and other hematologic diseases.

B. Alter, 1979, The Journal of pediatrics.

Disease Progression and Clinical Outcomes in Telomere Biology Disorders.

S. Savage, N. Giri, B. Alter, 2021, Blood.

Telomere length is associated with disease severity and declines with age in dyskeratosis congenita

P. Rosenberg, P. Lansdorp, S. Savage, 2012, Haematologica.

TINF2, a component of the shelterin telomere protection complex, is mutated in dyskeratosis congenita.

N. Orr, P. Lansdorp, S. Savage, 2007, American journal of human genetics.

Disruption of telomerase trafficking by TCAB1 mutation causes dyskeratosis congenita.

T. Myers, S. Savage, S. Artandi, 2011, Genes & development.

Occupational Exposure to Formaldehyde, Hematotoxicity and Leukemia-Specific Chromosome Changes in Cultured Myeloid Progenitor Cells – Response

R. Hayes, N. Rothman, R. Vermeulen, 2010, Cancer Epidemiology, Biomarkers and Prevention.

Globin synthesis in fibroblasts fused with erythroblasts. I. avian fibroblasts

V. Ingram, B. Alter, B. Alter, 1975, Somatic cell genetics.

A comprehensive functional characterization of BRCA2 variants associated with Fanconi anemia using mouse ES cell-based assay.

B. Alter, S. Meyer, S. Burkett, 2011, Blood.

Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in Dyskeratosis congenita

K. Jacobs, M. Yeager, L. Burdett, 2013, Human Genetics.

Very short telomere length by flow fluorescence in situ hybridization identifies patients with dyskeratosis congenita.

S. Chanock, S. Savage, N. Giri, 2007, Blood.

Corrigendum: 1q21.1 deletion and a rare functional polymorphism in siblings with thrombocytopenia-absent radius–like phenotypes

P. Meltzer, Yonghong Wang, Yuan Jiang, 2019, Cold Spring Harbor molecular case studies.

Anti-Müllerian hormone deficiency in females with Fanconi anemia.

N. Giri, B. Alter, P. Stratton, 2014, The Journal of clinical endocrinology and metabolism.

Inherited bone marrow failure syndromes: considerations pre- and posttransplant.

B. Alter, 2017, Blood.

Occupational Exposure to Formaldehyde, Hematotoxicity, and Leukemia-Specific Chromosome Changes in Cultured Myeloid Progenitor Cells

Luoping Zhang, Martyn T. Smith, B. Alter, 2010, Cancer Epidemiology, Biomarkers & Prevention.

J. Wagner, J. Tolar, S. Savage, 2017, Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation.

Cancer survivorship--genetic susceptibility and second primary cancers: research strategies and recommendations.

C. Pui, C. Begg, N. Rothman, 2006, Journal of the National Cancer Institute.

Comparison of Chromosome Breakage in Non-Mosaic and Mosaic Patients with Fanconi Anemia, Relatives, and Patients with Other Inherited Bone Marrow Failure Syndromes

S. Savage, N. Giri, B. Alter, 2014, Cytogenetic and Genome Research.

Differential synthesis of β-major and β-minor globin proteins in murine erythroleukemia cells is regulated at the transcriptional level

B. Alter, A. Skoultchi, M. Garrick, 1988 .

Stable Long-Term Risk of Leukemia in Patients with Severe Congenital Neutropenia Maintained On G-CSF Therapy.

P. Rosenberg, P. Newburger, D. Link, 2009 .

Wilms tumor, AML, and medulloblastoma in a child with cancer prone syndrome of total premature chromatid separation and Fanconi anemia

B. Alter, S. Olson, 2010, Pediatric blood & cancer.

Bone marrow failure syndromes.

B. Alter, 1991, Clinics in laboratory medicine.