Mark Daniel Fleming

Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed cases. HGG Adv. 2025 Apr 15; 6(3):100441. View Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed cases. Abstract

X-linked sideroblastic anemia in females. Blood. 2025 Apr 03; 145(14):1583-1587. View X-linked sideroblastic anemia in females. Abstract

Alternative start codon selection shapes mitochondrial function during evolution, homeostasis, and disease. bioRxiv. 2025 Mar 27. View Alternative start codon selection shapes mitochondrial function during evolution, homeostasis, and disease. Abstract

Expanding the Phenotype of DNA Ligase 1 Deficiency: First Report of Macrocytic Sideroblastic Anemia. Am J Hematol. 2025 May; 100(5):941-943. View Expanding the Phenotype of DNA Ligase 1 Deficiency: First Report of Macrocytic Sideroblastic Anemia. Abstract

Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed cases. medRxiv. 2024 Dec 26. View Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed cases. Abstract

Murine models of erythroid 5ALA synthesis disorders and their conditional synthetic lethal dependency on pyridoxine. Blood. 2024 09 26; 144(13):1418-1432. View Murine models of erythroid 5ALA synthesis disorders and their conditional synthetic lethal dependency on pyridoxine. Abstract

T-Lymphoblastic Lymphoma Cells Express High Levels of BCL2, S1P1, and ICAM1, Leading to a Blockade of Tumor Cell Intravasation. Cancer Cell. 2024 Jun 10; 42(6):1130-1131. View T-Lymphoblastic Lymphoma Cells Express High Levels of BCL2, S1P1, and ICAM1, Leading to a Blockade of Tumor Cell Intravasation. Abstract

Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease. Am J Hum Genet. 2024 05 02; 111(5):863-876. View Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease. Abstract

Comprehensive Genomic Analysis Identifies a Diverse Landscape of Sideroblastic and Nonsideroblastic Iron-Related Anemias with Novel and Pathogenic Variants in an Iron-Deficient Endemic Setting. J Mol Diagn. 2024 05; 26(5):430-444. View Comprehensive Genomic Analysis Identifies a Diverse Landscape of Sideroblastic and Nonsideroblastic Iron-Related Anemias with Novel and Pathogenic Variants in an Iron-Deficient Endemic Setting. Abstract

Folate depletion induces erythroid differentiation through perturbation of de novo purine synthesis. Sci Adv. 2024 Feb 02; 10(5):eadj9479. View Folate depletion induces erythroid differentiation through perturbation of de novo purine synthesis. Abstract

Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic disease. medRxiv. 2023 Oct 05. View Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic disease. Abstract

Successful cord blood transplantation for del7q myelodysplastic syndrome in Pearson marrow pancreas syndrome. Am J Hematol. 2023 12; 98(12):E376-E379. View Successful cord blood transplantation for del7q myelodysplastic syndrome in Pearson marrow pancreas syndrome. Abstract

Single-cell multi-omics of mitochondrial DNA disorders reveals dynamics of purifying selection across human immune cells. Nat Genet. 2023 07; 55(7):1198-1209. View Single-cell multi-omics of mitochondrial DNA disorders reveals dynamics of purifying selection across human immune cells. Abstract

Loss of the placental iron exporter ferroportin 1 causes embryonic demise in late-gestation mouse pregnancy. Development. 2022 12 01; 149(23). View Loss of the placental iron exporter ferroportin 1 causes embryonic demise in late-gestation mouse pregnancy. Abstract

Prospective observational pilot study of quantitative light dosimetry in erythropoietic protoporphyria. J Am Acad Dermatol. 2023 05; 88(5):1148-1151. View Prospective observational pilot study of quantitative light dosimetry in erythropoietic protoporphyria. Abstract

DPP9 deficiency: An inflammasomopathy that can be rescued by lowering NLRP1/IL-1 signaling. Sci Immunol. 2022 09 16; 7(75):eabi4611. View DPP9 deficiency: An inflammasomopathy that can be rescued by lowering NLRP1/IL-1 signaling. Abstract

Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders. Hum Mutat. 2022 11; 43(11):1609-1628. View Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders. Abstract

Association of Shelter-in-Place Hotels With Health Services Use Among People Experiencing Homelessness During the COVID-19 Pandemic. JAMA Netw Open. 2022 07 01; 5(7):e2223891. View Association of Shelter-in-Place Hotels With Health Services Use Among People Experiencing Homelessness During the COVID-19 Pandemic. Abstract

Neutrality, conflict, and structural determinants of health in a Jerusalem emergency department. Int J Equity Health. 2022 06 24; 21(1):89. View Neutrality, conflict, and structural determinants of health in a Jerusalem emergency department. Abstract

Defining case management success: a qualitative study of case manager perspectives from a large-scale health and social needs support program. BMJ Open Qual. 2022 06; 11(2). View Defining case management success: a qualitative study of case manager perspectives from a large-scale health and social needs support program. Abstract

Hematologic complications with age in Shwachman-Diamond syndrome. Blood Adv. 2022 01 11; 6(1):297-306. View Hematologic complications with age in Shwachman-Diamond syndrome. Abstract

Hereditary myopathies associated with hematological abnormalities. Muscle Nerve. 2022 04; 65(4):374-390. View Hereditary myopathies associated with hematological abnormalities. Abstract

Association of unbalanced translocation der(1;7) with germline GATA2 mutations. Blood. 2021 12 09; 138(23):2441-2445. View Association of unbalanced translocation der(1;7) with germline GATA2 mutations. Abstract

Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders. HGG Adv. 2022 Jan 13; 3(1):100075. View Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders. Abstract

Prevalence and Predictors of Iron Deficiency in Adolescent and Young Adult Outpatients: Implications for Screening. Clin Pediatr (Phila). 2022 01; 61(1):66-75. View Prevalence and Predictors of Iron Deficiency in Adolescent and Young Adult Outpatients: Implications for Screening. Abstract

"Housing Is Health Care": Treating Homelessness in Safety-net Hospitals. Med Anthropol Q. 2022 03; 36(1):44-63. View "Housing Is Health Care": Treating Homelessness in Safety-net Hospitals. Abstract

Managing the "hot spots": Health care, policing, and the governance of poverty in the US. Am Ethnol. 2021 Nov; 48(4):474-488. View Managing the "hot spots": Health care, policing, and the governance of poverty in the US. Abstract

Congenital X-linked neutropenia with myelodysplasia and somatic tetraploidy due to a germline mutation in SEPT6. Am J Hematol. 2022 01 01; 97(1):18-29. View Congenital X-linked neutropenia with myelodysplasia and somatic tetraploidy due to a germline mutation in SEPT6. Abstract

A synonymous coding variant that alters ALAS2 splicing and causes X-linked sideroblastic anemia. Pediatr Blood Cancer. 2022 01; 69(1):e29309. View A synonymous coding variant that alters ALAS2 splicing and causes X-linked sideroblastic anemia. Abstract

SLC25A38 congenital sideroblastic anemia: Phenotypes and genotypes of 31 individuals from 24 families, including 11 novel mutations, and a review of the literature. Hum Mutat. 2021 11; 42(11):1367-1383. View SLC25A38 congenital sideroblastic anemia: Phenotypes and genotypes of 31 individuals from 24 families, including 11 novel mutations, and a review of the literature. Abstract

Maternal Iron Deficiency Modulates Placental Transcriptome and Proteome in Mid-Gestation of Mouse Pregnancy. J Nutr. 2021 05 11; 151(5):1073-1083. View Maternal Iron Deficiency Modulates Placental Transcriptome and Proteome in Mid-Gestation of Mouse Pregnancy. Abstract

Localization and Kinetics of the Transferrin-Dependent Iron Transport Machinery in the Mouse Placenta. Curr Dev Nutr. 2021 Apr; 5(4):nzab025. View Localization and Kinetics of the Transferrin-Dependent Iron Transport Machinery in the Mouse Placenta. Abstract

Distinct genetic pathways define pre-malignant versus compensatory clonal hematopoiesis in Shwachman-Diamond syndrome. Nat Commun. 2021 02 26; 12(1):1334. View Distinct genetic pathways define pre-malignant versus compensatory clonal hematopoiesis in Shwachman-Diamond syndrome. Abstract

Hepcidin-Mediated Hypoferremia Disrupts Immune Responses to Vaccination and Infection. Med. 2021 02 12; 2(2):164-179.e12. View Hepcidin-Mediated Hypoferremia Disrupts Immune Responses to Vaccination and Infection. Abstract

Social Literacy: Nurses' Contribution Toward the Co-Production of Self-Management. Glob Qual Nurs Res. 2021 Jan-Dec; 8:2333393621993451. View Social Literacy: Nurses' Contribution Toward the Co-Production of Self-Management. Abstract

Global loss of Tfr2 with concomitant induced iron deficiency greatly ameliorates the phenotype of a murine thalassemia intermedia model. Am J Hematol. 2021 02 01; 96(2):251-257. View Global loss of Tfr2 with concomitant induced iron deficiency greatly ameliorates the phenotype of a murine thalassemia intermedia model. Abstract

Mutations in the iron-sulfur cluster biogenesis protein HSCB cause congenital sideroblastic anemia. J Clin Invest. 2020 10 01; 130(10):5245-5256. View Mutations in the iron-sulfur cluster biogenesis protein HSCB cause congenital sideroblastic anemia. Abstract

Patient Engagement, Chronic Illness, and the Subject of Health Care Reform. Med Anthropol. 2021 04; 40(3):214-227. View Patient Engagement, Chronic Illness, and the Subject of Health Care Reform. Abstract

Evidence in the UK Biobank for the underdiagnosis of erythropoietic protoporphyria. Genet Med. 2021 01; 23(1):140-148. View Evidence in the UK Biobank for the underdiagnosis of erythropoietic protoporphyria. Abstract

A study assessing the feasibility of randomization of pediatric and young adult patients between matched unrelated donor bone marrow transplantation and immune-suppressive therapy for newly diagnosed severe aplastic anemia: A joint pilot trial of the North American Pediatric Aplastic Anemia Consortium and the Pediatric Transplantation and Cellular Therapy Consortium. Pediatr Blood Cancer. 2020 10; 67(10):e28444. View A study assessing the feasibility of randomization of pediatric and young adult patients between matched unrelated donor bone marrow transplantation and immune-suppressive therapy for newly diagnosed severe aplastic anemia: A joint pilot trial of the North American Pediatric Aplastic Anemia Consortium and the Pediatric Transplantation and Cellular Therapy Consortium. Abstract

The role of iron in mediating testosterone's effects on erythropoiesis in mice. FASEB J. 2020 09; 34(9):11672-11684. View The role of iron in mediating testosterone's effects on erythropoiesis in mice. Abstract

ITK deficiency presenting as autoimmune lymphoproliferative syndrome. J Allergy Clin Immunol. 2021 02; 147(2):743-745.e1. View ITK deficiency presenting as autoimmune lymphoproliferative syndrome. Abstract

Histologic and Laboratory Characteristics of Symptomatic and Asymptomatic Castleman Disease in the Pediatric Population. Am J Clin Pathol. 2020 05 05; 153(6):821-832. View Histologic and Laboratory Characteristics of Symptomatic and Asymptomatic Castleman Disease in the Pediatric Population. Abstract

Mild iron deficiency does not ameliorate the phenotype of a murine erythropoietic protoporphyria model. Am J Hematol. 2020 05; 95(5):492-496. View Mild iron deficiency does not ameliorate the phenotype of a murine erythropoietic protoporphyria model. Abstract

Outcomes Following Inferior Mesenteric Artery Reimplantation During Elective Aortic Aneurysm Surgery. Ann Vasc Surg. 2020 Jul; 66:65-69. View Outcomes Following Inferior Mesenteric Artery Reimplantation During Elective Aortic Aneurysm Surgery. Abstract

Single-center experience with Indigo aspiration thrombectomy for acute lower limb ischemia. J Vasc Surg. 2020 07; 72(1):226-232. View Single-center experience with Indigo aspiration thrombectomy for acute lower limb ischemia. Abstract

Clinical features and outcomes of patients with Shwachman-Diamond syndrome and myelodysplastic syndrome or acute myeloid leukaemia: a multicentre, retrospective, cohort study. Lancet Haematol. 2020 Mar; 7(3):e238-e246. View Clinical features and outcomes of patients with Shwachman-Diamond syndrome and myelodysplastic syndrome or acute myeloid leukaemia: a multicentre, retrospective, cohort study. Abstract

The role of nuclear receptor co-activator 4 in erythropoiesis (Reply to Nai et al.). Haematologica. 2019 12; 104(12):e585-e586. View The role of nuclear receptor co-activator 4 in erythropoiesis (Reply to Nai et al.). Abstract

Low iron promotes megakaryocytic commitment of megakaryocytic-erythroid progenitors in humans and mice. Blood. 2019 10 31; 134(18):1547-1557. View Low iron promotes megakaryocytic commitment of megakaryocytic-erythroid progenitors in humans and mice. Abstract

The Human-Specific BOLA2 Duplication Modifies Iron Homeostasis and Anemia Predisposition in Chromosome 16p11.2 Autism Individuals. Am J Hum Genet. 2019 11 07; 105(5):947-958. View The Human-Specific BOLA2 Duplication Modifies Iron Homeostasis and Anemia Predisposition in Chromosome 16p11.2 Autism Individuals. Abstract

Predictors of Successful HIV Care Re-engagement Among Persons Poorly Engaged in HIV Care. AIDS Behav. 2019 Sep; 23(9):2490-2497. View Predictors of Successful HIV Care Re-engagement Among Persons Poorly Engaged in HIV Care. Abstract

Hepcidin is not essential for mediating testosterone's effects on erythropoiesis. Andrology. 2020 01; 8(1):82-90. View Hepcidin is not essential for mediating testosterone's effects on erythropoiesis. Abstract

The developmental stage of the hematopoietic niche regulates lineage in MLL-rearranged leukemia. J Exp Med. 2019 03 04; 216(3):527-538. View The developmental stage of the hematopoietic niche regulates lineage in MLL-rearranged leukemia. Abstract

A Murine Model of Chronic Lymphocytic Leukemia Based on B Cell-Restricted Expression of Sf3b1 Mutation and Atm Deletion. Cancer Cell. 2019 02 11; 35(2):283-296.e5. View A Murine Model of Chronic Lymphocytic Leukemia Based on B Cell-Restricted Expression of Sf3b1 Mutation and Atm Deletion. Abstract

NCOA4 maintains murine erythropoiesis via cell autonomous and non-autonomous mechanisms. Haematologica. 2019 07; 104(7):1342-1354. View NCOA4 maintains murine erythropoiesis via cell autonomous and non-autonomous mechanisms. Abstract

Bone Marrow Morphology Associated With Germline RUNX1 Mutations in Patients With Familial Platelet Disorder With Associated Myeloid Malignancy. Pediatr Dev Pathol. 2019 Jul-Aug; 22(4):315-328. View Bone Marrow Morphology Associated With Germline RUNX1 Mutations in Patients With Familial Platelet Disorder With Associated Myeloid Malignancy. Abstract

The molecular genetics of sideroblastic anemia. Blood. 2019 01 03; 133(1):59-69. View The molecular genetics of sideroblastic anemia. Abstract

Caring for "Super-utilizers": Neoliberal Social Assistance in the Safety-net. Med Anthropol Q. 2019 06; 33(2):173-190. View Caring for "Super-utilizers": Neoliberal Social Assistance in the Safety-net. Abstract

Pancreatic lipomatosis in Diamond-Blackfan anemia: The importance of genetic testing in bone marrow failure disorders. Am J Hematol. 2018 09; 93(9):1194-1195. View Pancreatic lipomatosis in Diamond-Blackfan anemia: The importance of genetic testing in bone marrow failure disorders. Abstract

The phenotypic spectrum of germline YARS2 variants: from isolated sideroblastic anemia to mitochondrial myopathy, lactic acidosis and sideroblastic anemia 2. Haematologica. 2018 12; 103(12):2008-2015. View The phenotypic spectrum of germline YARS2 variants: from isolated sideroblastic anemia to mitochondrial myopathy, lactic acidosis and sideroblastic anemia 2. Abstract

Recurrent heteroplasmy for the MT-ATP6 p.Ser148Asn (m.8969G>A) mutation in patients with syndromic congenital sideroblastic anemia of variable clinical severity. Haematologica. 2018 12; 103(12):e561-e563. View Recurrent heteroplasmy for the MT-ATP6 p.Ser148Asn (m.8969G>A) mutation in patients with syndromic congenital sideroblastic anemia of variable clinical severity. Abstract

Congenital macrothrombocytopenia with focal myelofibrosis due to mutations in human G6b-B is rescued in humanized mice. Blood. 2018 09 27; 132(13):1399-1412. View Congenital macrothrombocytopenia with focal myelofibrosis due to mutations in human G6b-B is rescued in humanized mice. Abstract

Normalizing hepcidin predicts TMPRSS6 mutation status in patients with chronic iron deficiency. Blood. 2018 07 26; 132(4):448-452. View Normalizing hepcidin predicts TMPRSS6 mutation status in patients with chronic iron deficiency. Abstract

RNAi-mediated reduction of hepatic Tmprss6 diminishes anemia and secondary iron overload in a splenectomized mouse model of ß-thalassemia intermedia. Am J Hematol. 2018 Jun; 93(6):745-750. View RNAi-mediated reduction of hepatic Tmprss6 diminishes anemia and secondary iron overload in a splenectomized mouse model of ß-thalassemia intermedia. Abstract

Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond-like features. J Clin Invest. 2017 Nov 01; 127(11):4090-4103. View Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond-like features. Abstract

UBE2O remodels the proteome during terminal erythroid differentiation. Science. 2017 08 04; 357(6350). View UBE2O remodels the proteome during terminal erythroid differentiation. Abstract

Ringed sideroblasts in ß-thalassemia. Pediatr Blood Cancer. 2017 05; 64(5). View Ringed sideroblasts in ß-thalassemia. Abstract

Physiologic Expression of Sf3b1(K700E) Causes Impaired Erythropoiesis, Aberrant Splicing, and Sensitivity to Therapeutic Spliceosome Modulation. Cancer Cell. 2016 09 12; 30(3):404-417. View Physiologic Expression of Sf3b1(K700E) Causes Impaired Erythropoiesis, Aberrant Splicing, and Sensitivity to Therapeutic Spliceosome Modulation. Abstract

A novel TERC CR4/CR5 domain mutation causes telomere disease via decreased TERT binding. Blood. 2016 10 20; 128(16):2089-2092. View A novel TERC CR4/CR5 domain mutation causes telomere disease via decreased TERT binding. Abstract

A recurring mutation in the respiratory complex 1 protein NDUFB11 is responsible for a novel form of X-linked sideroblastic anemia. Blood. 2016 10 13; 128(15):1913-1917. View A recurring mutation in the respiratory complex 1 protein NDUFB11 is responsible for a novel form of X-linked sideroblastic anemia. Abstract

The placenta: the forgotten essential organ of iron transport. Nutr Rev. 2016 07; 74(7):421-31. View The placenta: the forgotten essential organ of iron transport. Abstract

Pseudouridine synthase 1 deficient mice, a model for Mitochondrial Myopathy with Sideroblastic Anemia, exhibit muscle morphology and physiology alterations. Sci Rep. 2016 05 20; 6:26202. View Pseudouridine synthase 1 deficient mice, a model for Mitochondrial Myopathy with Sideroblastic Anemia, exhibit muscle morphology and physiology alterations. Abstract

Effects of Testosterone on Erythropoiesis in a Female Mouse Model of Anemia of Inflammation. Endocrinology. 2016 07; 157(7):2937-46. View Effects of Testosterone on Erythropoiesis in a Female Mouse Model of Anemia of Inflammation. Abstract

A missense mutation in TFRC, encoding transferrin receptor 1, causes combined immunodeficiency. Nat Genet. 2016 Jan; 48(1):74-8. View A missense mutation in TFRC, encoding transferrin receptor 1, causes combined immunodeficiency. Abstract

LARS2 Variants Associated with Hydrops, Lactic Acidosis, Sideroblastic Anemia, and Multisystem Failure. JIMD Rep. 2016; 28:49-57. View LARS2 Variants Associated with Hydrops, Lactic Acidosis, Sideroblastic Anemia, and Multisystem Failure. Abstract

Congenital sideroblastic anemia due to mutations in the mitochondrial HSP70 homologue HSPA9. Blood. 2015 Dec 17; 126(25):2734-8. View Congenital sideroblastic anemia due to mutations in the mitochondrial HSP70 homologue HSPA9. Abstract

The ins and outs of erythroid heme transport. Haematologica. 2015 Jun; 100(6):703. View The ins and outs of erythroid heme transport. Abstract

Severe combined immunodeficiency (SCID) presenting with neonatal aplastic anemia. Pediatr Blood Cancer. 2015 Nov; 62(11):2047-9. View Severe combined immunodeficiency (SCID) presenting with neonatal aplastic anemia. Abstract

Combination therapy with a Tmprss6 RNAi-therapeutic and the oral iron chelator deferiprone additively diminishes secondary iron overload in a mouse model of ß-thalassemia intermedia. Am J Hematol. 2015 Apr; 90(4):310-3. View Combination therapy with a Tmprss6 RNAi-therapeutic and the oral iron chelator deferiprone additively diminishes secondary iron overload in a mouse model of ß-thalassemia intermedia. Abstract

Pediatric aplastic anemia and refractory cytopenia: A retrospective analysis assessing outcomes and histomorphologic predictors. Am J Hematol. 2015 Apr; 90(4):320-6. View Pediatric aplastic anemia and refractory cytopenia: A retrospective analysis assessing outcomes and histomorphologic predictors. Abstract

Genome-wide association study follow-up identifies cyclin A2 as a regulator of the transition through cytokinesis during terminal erythropoiesis. Am J Hematol. 2015 May; 90(5):386-91. View Genome-wide association study follow-up identifies cyclin A2 as a regulator of the transition through cytokinesis during terminal erythropoiesis. Abstract

Screen for alterations of iron related parameters in N-ethyl-N-nitrosourea-treated mice identified mutant lines with increased plasma ferritin levels. Biometals. 2015 Apr; 28(2):293-306. View Screen for alterations of iron related parameters in N-ethyl-N-nitrosourea-treated mice identified mutant lines with increased plasma ferritin levels. Abstract

A competitive enzyme-linked immunosorbent assay specific for murine hepcidin-1: correlation with hepatic mRNA expression in established and novel models of dysregulated iron homeostasis. Haematologica. 2015 Feb; 100(2):167-77. View A competitive enzyme-linked immunosorbent assay specific for murine hepcidin-1: correlation with hepatic mRNA expression in established and novel models of dysregulated iron homeostasis. Abstract

Genomic analysis of bone marrow failure and myelodysplastic syndromes reveals phenotypic and diagnostic complexity. Haematologica. 2015 Jan; 100(1):42-8. View Genomic analysis of bone marrow failure and myelodysplastic syndromes reveals phenotypic and diagnostic complexity. Abstract

Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD). Blood. 2014 Oct 30; 124(18):2867-71. View Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD). Abstract

The genomic landscape of pediatric Ewing sarcoma. Cancer Discov. 2014 Nov; 4(11):1326-41. View The genomic landscape of pediatric Ewing sarcoma. Abstract

Indolent T-lymphoblastic proliferation with disseminated multinodal involvement and partial CD33 expression. Am J Surg Pathol. 2014 Sep; 38(9):1298-304. View Indolent T-lymphoblastic proliferation with disseminated multinodal involvement and partial CD33 expression. Abstract

Hereditary xerocytosis revisited. Am J Hematol. 2014 Dec; 89(12):1142-6. View Hereditary xerocytosis revisited. Abstract

SIRT3 regulates cellular iron metabolism and cancer growth by repressing iron regulatory protein 1. Oncogene. 2015 Apr 16; 34(16):2115-24. View SIRT3 regulates cellular iron metabolism and cancer growth by repressing iron regulatory protein 1. Abstract

Sideroblastic anemia: diagnosis and management. Hematol Oncol Clin North Am. 2014 Aug; 28(4):653-70, v. View Sideroblastic anemia: diagnosis and management. Abstract

Pearson marrow pancreas syndrome in patients suspected to have Diamond-Blackfan anemia. Blood. 2014 Jul 17; 124(3):437-40. View Pearson marrow pancreas syndrome in patients suspected to have Diamond-Blackfan anemia. Abstract

Modulation of hepcidin as therapy for primary and secondary iron overload disorders: preclinical models and approaches. Hematol Oncol Clin North Am. 2014 Apr; 28(2):387-401. View Modulation of hepcidin as therapy for primary and secondary iron overload disorders: preclinical models and approaches. Abstract

X-linked sideroblastic anemia due to ALAS2 intron 1 enhancer element GATA-binding site mutations. Am J Hematol. 2014 Mar; 89(3):315-9. View X-linked sideroblastic anemia due to ALAS2 intron 1 enhancer element GATA-binding site mutations. Abstract

Induced pluripotent stem cells with a mitochondrial DNA deletion. Stem Cells. 2013 Jul; 31(7):1287-97. View Induced pluripotent stem cells with a mitochondrial DNA deletion. Abstract

The crystal structure of six-transmembrane epithelial antigen of the prostate 4 (Steap4), a ferri/cuprireductase, suggests a novel interdomain flavin-binding site. J Biol Chem. 2013 Jul 12; 288(28):20668-82. View The crystal structure of six-transmembrane epithelial antigen of the prostate 4 (Steap4), a ferri/cuprireductase, suggests a novel interdomain flavin-binding site. Abstract

A novel syndrome of congenital sideroblastic anemia, B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD). Blood. 2013 Jul 04; 122(1):112-23. View A novel syndrome of congenital sideroblastic anemia, B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD). Abstract

A novel rat model of hereditary hemochromatosis due to a mutation in transferrin receptor 2. Comp Med. 2013 Apr; 63(2):143-55. View A novel rat model of hereditary hemochromatosis due to a mutation in transferrin receptor 2. Abstract

High-throughput tyrosine kinase activity profiling identifies FAK as a candidate therapeutic target in Ewing sarcoma. Cancer Res. 2013 May 01; 73(9):2873-83. View High-throughput tyrosine kinase activity profiling identifies FAK as a candidate therapeutic target in Ewing sarcoma. Abstract

Heme transport and erythropoiesis. Curr Opin Chem Biol. 2013 Apr; 17(2):204-11. View Heme transport and erythropoiesis. Abstract

HRG1 is essential for heme transport from the phagolysosome of macrophages during erythrophagocytosis. Cell Metab. 2013 Feb 05; 17(2):261-70. View HRG1 is essential for heme transport from the phagolysosome of macrophages during erythrophagocytosis. Abstract

The IRP1-HIF-2a axis coordinates iron and oxygen sensing with erythropoiesis and iron absorption. Cell Metab. 2013 Feb 05; 17(2):282-90. View The IRP1-HIF-2a axis coordinates iron and oxygen sensing with erythropoiesis and iron absorption. Abstract

Identification and characterization of a novel murine allele of Tmprss6. Haematologica. 2013 Jun; 98(6):854-61. View Identification and characterization of a novel murine allele of Tmprss6. Abstract

An RNAi therapeutic targeting Tmprss6 decreases iron overload in Hfe(-/-) mice and ameliorates anemia and iron overload in murine ß-thalassemia intermedia. Blood. 2013 Feb 14; 121(7):1200-8. View An RNAi therapeutic targeting Tmprss6 decreases iron overload in Hfe(-/-) mice and ameliorates anemia and iron overload in murine ß-thalassemia intermedia. Abstract

Mitochondrial heme: an exit strategy at last. J Clin Invest. 2012 Dec; 122(12):4328-30. View Mitochondrial heme: an exit strategy at last. Abstract

Mitochondrial Atpif1 regulates haem synthesis in developing erythroblasts. Nature. 2012 Nov 22; 491(7425):608-12. View Mitochondrial Atpif1 regulates haem synthesis in developing erythroblasts. Abstract

Increased survival with enzalutamide in prostate cancer after chemotherapy. N Engl J Med. 2012 Sep 27; 367(13):1187-97. View Increased survival with enzalutamide in prostate cancer after chemotherapy. Abstract

Pathogenesis of Langerhans cell histiocytosis. Annu Rev Pathol. 2013 Jan 24; 8:1-20. View Pathogenesis of Langerhans cell histiocytosis. Abstract

Transgenic HFE-dependent induction of hepcidin in mice does not require transferrin receptor-2. Am J Hematol. 2012 Jun; 87(6):588-95. View Transgenic HFE-dependent induction of hepcidin in mice does not require transferrin receptor-2. Abstract

Identifying, understanding and overcoming barriers to medication error reporting in hospitals: a focus group study. BMJ Qual Saf. 2012 May; 21(5):361-8. View Identifying, understanding and overcoming barriers to medication error reporting in hospitals: a focus group study. Abstract

QTLs for murine red blood cell parameters in LG/J and SM/J F(2) and advanced intercross lines. Mamm Genome. 2012 Jun; 23(5-6):356-66. View QTLs for murine red blood cell parameters in LG/J and SM/J F(2) and advanced intercross lines. Abstract

Murine mutants in the study of systemic iron metabolism and its disorders: an update on recent advances. Biochim Biophys Acta. 2012 Sep; 1823(9):1444-50. View Murine mutants in the study of systemic iron metabolism and its disorders: an update on recent advances. Abstract

Design and validation of a high-throughput matrix-assisted laser desorption ionization time-of-flight mass spectrometry method for quantification of hepcidin in human plasma. Anal Chem. 2011 Nov 01; 83(21):8357-62. View Design and validation of a high-throughput matrix-assisted laser desorption ionization time-of-flight mass spectrometry method for quantification of hepcidin in human plasma. Abstract

Hemojuvelin is essential for transferrin-dependent and transferrin-independent hepcidin expression in mice. Haematologica. 2012 Feb; 97(2):189-92. View Hemojuvelin is essential for transferrin-dependent and transferrin-independent hepcidin expression in mice. Abstract

A polymorphism in the leptin gene promoter is associated with anemia in patients with HIV disease. Blood. 2011 Nov 17; 118(20):5401-8. View A polymorphism in the leptin gene promoter is associated with anemia in patients with HIV disease. Abstract

Perturbation of hepcidin expression by BMP type I receptor deletion induces iron overload in mice. Blood. 2011 Oct 13; 118(15):4224-30. View Perturbation of hepcidin expression by BMP type I receptor deletion induces iron overload in mice. Abstract

Loss of SPEF2 function in mice results in spermatogenesis defects and primary ciliary dyskinesia. Biol Reprod. 2011 Oct; 85(4):690-701. View Loss of SPEF2 function in mice results in spermatogenesis defects and primary ciliary dyskinesia. Abstract

Description of the development and validation of the Canadian Paediatric Trigger Tool. BMJ Qual Saf. 2011 May; 20(5):416-23. View Description of the development and validation of the Canadian Paediatric Trigger Tool. Abstract

Congenital sideroblastic anemias: iron and heme lost in mitochondrial translation. Hematology Am Soc Hematol Educ Program. 2011; 2011:525-31. View Congenital sideroblastic anemias: iron and heme lost in mitochondrial translation. Abstract

Characterization of mitochondrial ferritin-deficient mice. Am J Hematol. 2010 Dec; 85(12):958-60. View Characterization of mitochondrial ferritin-deficient mice. Abstract

A tincture of hepcidin cures all: the potential for hepcidin therapeutics. J Clin Invest. 2010 Dec; 120(12):4187-90. View A tincture of hepcidin cures all: the potential for hepcidin therapeutics. Abstract

T-lymphoblastic lymphoma cells express high levels of BCL2, S1P1, and ICAM1, leading to a blockade of tumor cell intravasation. Cancer Cell. 2010 Oct 19; 18(4):353-66. View T-lymphoblastic lymphoma cells express high levels of BCL2, S1P1, and ICAM1, leading to a blockade of tumor cell intravasation. Abstract

Transferrin is a major determinant of hepcidin expression in hypotransferrinemic mice. Blood. 2011 Jan 13; 117(2):630-7. View Transferrin is a major determinant of hepcidin expression in hypotransferrinemic mice. Abstract

Endogenous oncogenic Nras mutation promotes aberrant GM-CSF signaling in granulocytic/monocytic precursors in a murine model of chronic myelomonocytic leukemia. Blood. 2010 Dec 23; 116(26):5991-6002. View Endogenous oncogenic Nras mutation promotes aberrant GM-CSF signaling in granulocytic/monocytic precursors in a murine model of chronic myelomonocytic leukemia. Abstract

Target-specific, histology-independent, randomized discontinuation study of lapatinib in patients with HER2-amplified solid tumors. Invest New Drugs. 2012 Apr; 30(2):695-701. View Target-specific, histology-independent, randomized discontinuation study of lapatinib in patients with HER2-amplified solid tumors. Abstract

Common variants at 10 genomic loci influence hemoglobin A1(C) levels via glycemic and nonglycemic pathways. Diabetes. 2010 Dec; 59(12):3229-39. View Common variants at 10 genomic loci influence hemoglobin A1(C) levels via glycemic and nonglycemic pathways. Abstract

Iron overload in patients with acute leukemia or MDS undergoing myeloablative stem cell transplantation. Biol Blood Marrow Transplant. 2011 Jun; 17(6):852-60. View Iron overload in patients with acute leukemia or MDS undergoing myeloablative stem cell transplantation. Abstract

Hepcidin induction by transgenic overexpression of Hfe does not require the Hfe cytoplasmic tail, but does require hemojuvelin. Blood. 2010 Dec 16; 116(25):5679-87. View Hepcidin induction by transgenic overexpression of Hfe does not require the Hfe cytoplasmic tail, but does require hemojuvelin. Abstract

SBDS protein expression patterns in the bone marrow. Pediatr Blood Cancer. 2010 Sep; 55(3):546-9. View SBDS protein expression patterns in the bone marrow. Abstract

Musashi-2 regulates normal hematopoiesis and promotes aggressive myeloid leukemia. Nat Med. 2010 Aug; 16(8):903-8. View Musashi-2 regulates normal hematopoiesis and promotes aggressive myeloid leukemia. Abstract

Potential biomarkers of bortezomib activity in mantle cell lymphoma from the phase 2 PINNACLE trial. Leuk Lymphoma. 2010 Jul; 51(7):1269-77. View Potential biomarkers of bortezomib activity in mantle cell lymphoma from the phase 2 PINNACLE trial. Abstract

Recurrent BRAF mutations in Langerhans cell histiocytosis. Blood. 2010 Sep 16; 116(11):1919-23. View Recurrent BRAF mutations in Langerhans cell histiocytosis. Abstract

Pathology of the liver in familial hemophagocytic lymphohistiocytosis. Am J Surg Pathol. 2010 Jun; 34(6):852-67. View Pathology of the liver in familial hemophagocytic lymphohistiocytosis. Abstract

Cdk5rap2 regulates centrosome function and chromosome segregation in neuronal progenitors. Development. 2010 Jun; 137(11):1907-17. View Cdk5rap2 regulates centrosome function and chromosome segregation in neuronal progenitors. Abstract

Down-regulation of Bmp/Smad signaling by Tmprss6 is required for maintenance of systemic iron homeostasis. Blood. 2010 May 06; 115(18):3817-26. View Down-regulation of Bmp/Smad signaling by Tmprss6 is required for maintenance of systemic iron homeostasis. Abstract

How much do locked screws add to the fixation of "hybrid" plate constructs in osteoporotic bone? J Orthop Trauma. 2010 Mar; 24(3):163-9. View How much do locked screws add to the fixation of "hybrid" plate constructs in osteoporotic bone? Abstract

High-throughput matrix-assisted laser desorption ionization-time-of-flight mass spectrometry method for quantification of hepcidin in human urine. Anal Chem. 2010 Feb 15; 82(4):1551-5. View High-throughput matrix-assisted laser desorption ionization-time-of-flight mass spectrometry method for quantification of hepcidin in human urine. Abstract

Systematic molecular genetic analysis of congenital sideroblastic anemia: evidence for genetic heterogeneity and identification of novel mutations. Pediatr Blood Cancer. 2010 Feb; 54(2):273-8. View Systematic molecular genetic analysis of congenital sideroblastic anemia: evidence for genetic heterogeneity and identification of novel mutations. Abstract

Safety of carotid endarterectomy in patients concurrently on clopidogrel. Ann Vasc Surg. 2009 Sep-Oct; 23(5):612-5. View Safety of carotid endarterectomy in patients concurrently on clopidogrel. Abstract

Emi1 maintains genomic integrity during zebrafish embryogenesis and cooperates with p53 in tumor suppression. Mol Cell Biol. 2009 Nov; 29(21):5911-22. View Emi1 maintains genomic integrity during zebrafish embryogenesis and cooperates with p53 in tumor suppression. Abstract

Histiocytoses. Oncology of Infancy and Childhood (Orkin SH, Fisher D, Look AT, Lux SE, Ginsberg D, Nathan DG, editors). 2009.

Mutations in mitochondrial carrier family gene SLC25A38 cause nonsyndromic autosomal recessive congenital sideroblastic anemia. Nat Genet. 2009 Jun; 41(6):651-3. View Mutations in mitochondrial carrier family gene SLC25A38 cause nonsyndromic autosomal recessive congenital sideroblastic anemia. Abstract

Oncogenic Kras-induced leukemogeneis: hematopoietic stem cells as the initial target and lineage-specific progenitors as the potential targets for final leukemic transformation. Blood. 2009 Feb 05; 113(6):1304-14. View Oncogenic Kras-induced leukemogeneis: hematopoietic stem cells as the initial target and lineage-specific progenitors as the potential targets for final leukemic transformation. Abstract

Iron metabolism and sideroblastic anemias. Nathan and Oski's Hematology of Infancy and Childhood (Orkin SH, Fisher D, Look AT, Lux SE, Ginsberg D, Nathan DG, editors). 2008.

Identification of a Steap3 endosomal targeting motif essential for normal iron metabolism. Blood. 2009 Feb 19; 113(8):1805-8. View Identification of a Steap3 endosomal targeting motif essential for normal iron metabolism. Abstract

hem6: an ENU-induced recessive hypochromic microcytic anemia mutation in the mouse. Blood. 2008 Nov 15; 112(10):4308-13. View hem6: an ENU-induced recessive hypochromic microcytic anemia mutation in the mouse. Abstract

Structure of the membrane proximal oxidoreductase domain of human Steap3, the dominant ferrireductase of the erythroid transferrin cycle. Proc Natl Acad Sci U S A. 2008 May 27; 105(21):7410-5. View Structure of the membrane proximal oxidoreductase domain of human Steap3, the dominant ferrireductase of the erythroid transferrin cycle. Abstract

Haem homeostasis is regulated by the conserved and concerted functions of HRG-1 proteins. Nature. 2008 Jun 19; 453(7198):1127-31. View Haem homeostasis is regulated by the conserved and concerted functions of HRG-1 proteins. Abstract

Mutations in TMPRSS6 cause iron-refractory iron deficiency anemia (IRIDA). Nat Genet. 2008 May; 40(5):569-71. View Mutations in TMPRSS6 cause iron-refractory iron deficiency anemia (IRIDA). Abstract

The M2 splice isoform of pyruvate kinase is important for cancer metabolism and tumour growth. Nature. 2008 Mar 13; 452(7184):230-3. View The M2 splice isoform of pyruvate kinase is important for cancer metabolism and tumour growth. Abstract

Regulation of progenitor cell proliferation and granulocyte function by microRNA-223. Nature. 2008 Feb 28; 451(7182):1125-9. View Regulation of progenitor cell proliferation and granulocyte function by microRNA-223. Abstract

Aggressive Langerhans cell histiocytosis following T-ALL: clonally related neoplasms with persistent expression of constitutively active NOTCH1. Am J Hematol. 2008 Feb; 83(2):116-21. View Aggressive Langerhans cell histiocytosis following T-ALL: clonally related neoplasms with persistent expression of constitutively active NOTCH1. Abstract

The regulation of hepcidin and its effects on systemic and cellular iron metabolism. Hematology Am Soc Hematol Educ Program. 2008; 151-8. View The regulation of hepcidin and its effects on systemic and cellular iron metabolism. Abstract

Primary ciliary dyskinesia in mice lacking the novel ciliary protein Pcdp1. Mol Cell Biol. 2008 Feb; 28(3):949-57. View Primary ciliary dyskinesia in mice lacking the novel ciliary protein Pcdp1. Abstract

Mutations in the serum/glucocorticoid regulated kinase 3 (Sgk3) are responsible for the mouse fuzzy (fz) hair phenotype. J Invest Dermatol. 2008 Mar; 128(3):730-2. View Mutations in the serum/glucocorticoid regulated kinase 3 (Sgk3) are responsible for the mouse fuzzy (fz) hair phenotype. Abstract

Response: What's in a name?. Blood. 2007; 110(7):2771.

CD4+/CD56+ hematodermic neoplasm ("blastic natural killer cell lymphoma"): neoplastic cells express the immature dendritic cell marker BDCA-2 and produce interferon. Am J Clin Pathol. 2007 Sep; 128(3):445-53. View CD4+/CD56+ hematodermic neoplasm ("blastic natural killer cell lymphoma"): neoplastic cells express the immature dendritic cell marker BDCA-2 and produce interferon. Abstract

Genetic variation in Mon1a affects protein trafficking and modifies macrophage iron loading in mice. Nat Genet. 2007 Aug; 39(8):1025-32. View Genetic variation in Mon1a affects protein trafficking and modifies macrophage iron loading in mice. Abstract

X-linked gray platelet syndrome due to a GATA1 Arg216Gln mutation. Blood. 2007 Apr 15; 109(8):3297-9. View X-linked gray platelet syndrome due to a GATA1 Arg216Gln mutation. Abstract

Abcb7, the gene responsible for X-linked sideroblastic anemia with ataxia, is essential for hematopoiesis. Blood. 2007 Apr 15; 109(8):3567-9. View Abcb7, the gene responsible for X-linked sideroblastic anemia with ataxia, is essential for hematopoiesis. Abstract

Immunosurveillance and survivin-specific T-cell immunity in children with high-risk neuroblastoma. J Clin Oncol. 2006 Dec 20; 24(36):5725-34. View Immunosurveillance and survivin-specific T-cell immunity in children with high-risk neuroblastoma. Abstract

Retinal projections to the subcortical visual system in congenic albino and pigmented rats. Neuroscience. 2006 Dec; 143(3):895-904. View Retinal projections to the subcortical visual system in congenic albino and pigmented rats. Abstract

Loss of the acyl-CoA binding protein (Acbp) results in fatty acid metabolism abnormalities in mouse hair and skin. J Invest Dermatol. 2007 Jan; 127(1):16-23. View Loss of the acyl-CoA binding protein (Acbp) results in fatty acid metabolism abnormalities in mouse hair and skin. Abstract

The Steap proteins are metalloreductases. Blood. 2006 Aug 15; 108(4):1388-94. View The Steap proteins are metalloreductases. Abstract

The mitochondrial ATP-binding cassette transporter Abcb7 is essential in mice and participates in cytosolic iron-sulfur cluster biogenesis. Hum Mol Genet. 2006 Mar 15; 15(6):953-64. View The mitochondrial ATP-binding cassette transporter Abcb7 is essential in mice and participates in cytosolic iron-sulfur cluster biogenesis. Abstract

Iron-responsive degradation of iron-regulatory protein 1 does not require the Fe-S cluster. EMBO J. 2006 Feb 08; 25(3):544-53. View Iron-responsive degradation of iron-regulatory protein 1 does not require the Fe-S cluster. Abstract

AKT induces erythroid-cell maturation of JAK2-deficient fetal liver progenitor cells and is required for Epo regulation of erythroid-cell differentiation. Blood. 2006 Mar 01; 107(5):1888-91. View AKT induces erythroid-cell maturation of JAK2-deficient fetal liver progenitor cells and is required for Epo regulation of erythroid-cell differentiation. Abstract

A mutation in Sec15l1 causes anemia in hemoglobin deficit (hbd) mice. Nat Genet. 2005 Nov; 37(11):1270-3. View A mutation in Sec15l1 causes anemia in hemoglobin deficit (hbd) mice. Abstract

Identification of a ferrireductase required for efficient transferrin-dependent iron uptake in erythroid cells. Nat Genet. 2005 Nov; 37(11):1264-9. View Identification of a ferrireductase required for efficient transferrin-dependent iron uptake in erythroid cells. Abstract

Erythropoietin stimulates phosphorylation and activation of GATA-1 via the PI3-kinase/AKT signaling pathway. Blood. 2006 Feb 01; 107(3):907-15. View Erythropoietin stimulates phosphorylation and activation of GATA-1 via the PI3-kinase/AKT signaling pathway. Abstract

A mouse model of juvenile hemochromatosis. J Clin Invest. 2005 Aug; 115(8):2187-91. View A mouse model of juvenile hemochromatosis. Abstract

nm1054: a spontaneous, recessive, hypochromic, microcytic anemia mutation in the mouse. Blood. 2005 Nov 15; 106(10):3625-31. View nm1054: a spontaneous, recessive, hypochromic, microcytic anemia mutation in the mouse. Abstract

Cybrd1 (duodenal cytochrome b) is not necessary for dietary iron absorption in mice. Blood. 2005 Oct 15; 106(8):2879-83. View Cybrd1 (duodenal cytochrome b) is not necessary for dietary iron absorption in mice. Abstract

Heme-regulated eIF2alpha kinase modifies the phenotypic severity of murine models of erythropoietic protoporphyria and beta-thalassemia. J Clin Invest. 2005 Jun; 115(6):1562-70. View Heme-regulated eIF2alpha kinase modifies the phenotypic severity of murine models of erythropoietic protoporphyria and beta-thalassemia. Abstract

Evidence for a protective role of the Gardos channel against hemolysis in murine spherocytosis. Blood. 2005 Aug 15; 106(4):1454-9. View Evidence for a protective role of the Gardos channel against hemolysis in murine spherocytosis. Abstract

Failure to define window of time for autologous tumor vaccination in patients with newly diagnosed or relapsed acute lymphoblastic leukemia. Exp Hematol. 2005 Mar; 33(3):286-94. View Failure to define window of time for autologous tumor vaccination in patients with newly diagnosed or relapsed acute lymphoblastic leukemia. Abstract

Patient safety culture measurement and improvement: a "how to" guide. Healthc Q. 2005; 8 Spec No:14-9. View Patient safety culture measurement and improvement: a "how to" guide. Abstract

In vivo reduction of erythrocyte oxidant stress in a murine model of beta-thalassemia. Haematologica. 2004 Nov; 89(11):1287-98. View In vivo reduction of erythrocyte oxidant stress in a murine model of beta-thalassemia. Abstract

Defective apoptosis and B-cell lymphomas in mice with p53 point mutation at Ser 23. EMBO J. 2004 Sep 15; 23(18):3689-99. View Defective apoptosis and B-cell lymphomas in mice with p53 point mutation at Ser 23. Abstract

SOD2-deficiency anemia: protein oxidation and altered protein expression reveal targets of damage, stress response, and antioxidant responsiveness. Blood. 2004 Oct 15; 104(8):2565-73. View SOD2-deficiency anemia: protein oxidation and altered protein expression reveal targets of damage, stress response, and antioxidant responsiveness. Abstract

Identification of a novel mutation (C321X) in HJV. Blood. 2004 Oct 01; 104(7):2176-7. View Identification of a novel mutation (C321X) in HJV. Abstract

Male infertility and thiamine-dependent erythroid hypoplasia in mice lacking thiamine transporter Slc19a2. Mol Genet Metab. 2003 Sep-Oct; 80(1-2):234-41. View Male infertility and thiamine-dependent erythroid hypoplasia in mice lacking thiamine transporter Slc19a2. Abstract

Coincident expression of the chemokine receptors CCR6 and CCR7 by pathologic Langerhans cells in Langerhans cell histiocytosis. Blood. 2003 Apr 01; 101(7):2473-5. View Coincident expression of the chemokine receptors CCR6 and CCR7 by pathologic Langerhans cells in Langerhans cell histiocytosis. Abstract

Examination of the Bone marrow. Blood: Principles and Practice of Hematology. 2003; 59-79.

Highly penetrant, rapid tumorigenesis through conditional inversion of the tumor suppressor gene Snf5. Cancer Cell. 2002 Nov; 2(5):415-25. View Highly penetrant, rapid tumorigenesis through conditional inversion of the tumor suppressor gene Snf5. Abstract

The genetics of inherited sideroblastic anemias. Semin Hematol. 2002 Oct; 39(4):270-81. View The genetics of inherited sideroblastic anemias. Abstract

Telomerase contributes to tumorigenesis by a telomere length-independent mechanism. . Proc Natl Acad Sci USA. 2002; 99(20):12606-12611.

Telomerase contributes to tumorigenesis by a telomere length-independent mechanism. Proc Natl Acad Sci U S A. 2002 Oct 01; 99(20):12606-11. View Telomerase contributes to tumorigenesis by a telomere length-independent mechanism. Abstract

Immortalization and transformation of primary human airway epithelial cells by gene transfer. Oncogene. 2002 Jul 04; 21(29):4577-86. View Immortalization and transformation of primary human airway epithelial cells by gene transfer. Abstract

Inappropriate expression of hepcidin is associated with iron refractory anemia: implications for the anemia of chronic disease. Blood. 2002 Nov 15; 100(10):3776-81. View Inappropriate expression of hepcidin is associated with iron refractory anemia: implications for the anemia of chronic disease. Abstract

Lymphomas of the breast: primary and secondary involvement. Cancer. 2002 Jan 01; 94(1):6-13. View Lymphomas of the breast: primary and secondary involvement. Abstract

Heme-regulated eIF2alpha kinase (HRI) is required for translational regulation and survival of erythroid precursors in iron deficiency. EMBO J. 2001 Dec 03; 20(23):6909-18. View Heme-regulated eIF2alpha kinase (HRI) is required for translational regulation and survival of erythroid precursors in iron deficiency. Abstract

Ineffective erythropoiesis in Stat5a(-/-)5b(-/-) mice due to decreased survival of early erythroblasts. Blood. 2001 Dec 01; 98(12):3261-73. View Ineffective erythropoiesis in Stat5a(-/-)5b(-/-) mice due to decreased survival of early erythroblasts. Abstract

Erythropoiesis in the absence of janus-kinase 2: BCR-ABL induces red cell formation in JAK2(-/-) hematopoietic progenitors. Blood. 2001 Nov 15; 98(10):2948-57. View Erythropoiesis in the absence of janus-kinase 2: BCR-ABL induces red cell formation in JAK2(-/-) hematopoietic progenitors. Abstract

Characterization of a murine high-affinity thiamine transporter, Slc19a2. Mol Genet Metab. 2001 Sep-Oct; 74(1-2):273-80. View Characterization of a murine high-affinity thiamine transporter, Slc19a2. Abstract

Myelopoiesis in the zebrafish, Danio rerio. Blood. 2001 Aug 01; 98(3):643-51. View Myelopoiesis in the zebrafish, Danio rerio. Abstract

Organized sports for children and preadolescents. Pediatrics. 2001 Jun; 107(6):1459-62. View Organized sports for children and preadolescents. Abstract

The spleen as a diagnostic specimen: a review of 10 years' experience at two tertiary care institutions. Cancer. 2001 Jun 01; 91(11):2001-9. View The spleen as a diagnostic specimen: a review of 10 years' experience at two tertiary care institutions. Abstract

A mutation in a mitochondrial transmembrane protein is responsible for the pleiotropic hematological and skeletal phenotype of flexed-tail (f/f) mice. Genes Dev. 2001 Mar 15; 15(6):652-7. View A mutation in a mitochondrial transmembrane protein is responsible for the pleiotropic hematological and skeletal phenotype of flexed-tail (f/f) mice. Abstract

Expression of the DMT1 (NRAMP2/DCT1) iron transporter in mice with genetic iron overload disorders. Blood. 2001 Feb 15; 97(4):1138-40. View Expression of the DMT1 (NRAMP2/DCT1) iron transporter in mice with genetic iron overload disorders. Abstract

Human breast cancer cells generated by oncogenic transformation of primary mammary epithelial cells. Genes Dev. 2001 Jan 01; 15(1):50-65. View Human breast cancer cells generated by oncogenic transformation of primary mammary epithelial cells. Abstract

The liver and iron. The Liver Biology and Pathobiology (Arias I, Boyer JL, Fausto N, Jakoby WB, Schachter D, and Shafritz DA, editors). 2001; 345-359.

The Nramp2/DMT1 iron transporter is induced in the duodenum of microcytic anemia mk mice but is not properly targeted to the intestinal brush border. Blood. 2000 Dec 01; 96(12):3964-70. View The Nramp2/DMT1 iron transporter is induced in the duodenum of microcytic anemia mk mice but is not properly targeted to the intestinal brush border. Abstract

The molecular defect in hypotransferrinemic mice. Blood. 2000 Aug 01; 96(3):1113-8. View The molecular defect in hypotransferrinemic mice. Abstract

Positional cloning of zebrafish ferroportin1 identifies a conserved vertebrate iron exporter. Nature. 2000 Feb 17; 403(6771):776-81. View Positional cloning of zebrafish ferroportin1 identifies a conserved vertebrate iron exporter. Abstract

Commentary on: ferrokinetics in the syndrome of familial hypoferremic microcytic anemia with iron malabsorption. J Pediatr Hematol Oncol. 1999 Sep-Oct; 21(5):353-5. View Commentary on: ferrokinetics in the syndrome of familial hypoferremic microcytic anemia with iron malabsorption. Abstract

The C282Y mutation causing hereditary hemochromatosis does not produce a null allele. Blood. 1999 Jul 01; 94(1):9-11. View The C282Y mutation causing hereditary hemochromatosis does not produce a null allele. Abstract

Iron transport across biologic membranes. Nutr Rev. 1999 Apr; 57(4):114-23. View Iron transport across biologic membranes. Abstract

Molecular insights into mechanisms of iron transport. Curr Opin Hematol. 1999 Mar; 6(2):61-4. View Molecular insights into mechanisms of iron transport. Abstract

Iron and erythropoiesis: Lessons from anemic mice. Molecular Biology of Hematopoiesis. 1999; 6:363-370.

Ferrokinetics in the syndrome of familial hypoferremic microcytic anemia with iron malabsorption [commentary]. J. Ped. Hem. /Onc. 1999; 21(5):354-356.

Mammalian iron transport: an unexpected link between metal homeostasis and host defense. J Lab Clin Med. 1998 Dec; 132(6):464-8. View Mammalian iron transport: an unexpected link between metal homeostasis and host defense. Abstract

Splenic pathology in myelodysplasia: a report of 13 cases with clinical correlation. Am J Surg Pathol. 1998 Oct; 22(10):1255-66. View Splenic pathology in myelodysplasia: a report of 13 cases with clinical correlation. Abstract

The G185R mutation disrupts function of the iron transporter Nramp2. Blood. 1998 Sep 15; 92(6):2157-63. View The G185R mutation disrupts function of the iron transporter Nramp2. Abstract

p63, a p53 homolog at 3q27-29, encodes multiple products with transactivating, death-inducing, and dominant-negative activities. Mol Cell. 1998 Sep; 2(3):305-16. View p63, a p53 homolog at 3q27-29, encodes multiple products with transactivating, death-inducing, and dominant-negative activities. Abstract

Hepatic iron overload in the age of hereditary hemochromatosis mutation analysis. Am J Clin Pathol. 1998 May; 109(5):505-7. View Hepatic iron overload in the age of hereditary hemochromatosis mutation analysis. Abstract

Nramp2 is mutated in the anemic Belgrade (b) rat: evidence of a role for Nramp2 in endosomal iron transport. Proc Natl Acad Sci U S A. 1998 Feb 03; 95(3):1148-53. View Nramp2 is mutated in the anemic Belgrade (b) rat: evidence of a role for Nramp2 in endosomal iron transport. Abstract

Nramp2 is mutated in the anemic Belgrade (b) rat: evidence of a role for Nramp2 in endosomal iron transport. . Proc Natl Acad Sci USA. 1998; 95(3):1148-1153.

Absence of dendritic reticulum cell staining is helpful for distinguishing T-cell rish B-cell lymphoma from lymphocyte predominance Hodgkin's Disease. Applied Immunochemistry. 1998; 6:16-22.

Microcytic anaemia mice have a mutation in Nramp2, a candidate iron transporter gene. Nat Genet. 1997 Aug; 16(4):383-6. View Microcytic anaemia mice have a mutation in Nramp2, a candidate iron transporter gene. Abstract

Angiosarcoma. J Clin Oncol. 1997 Apr; 15(4):1708-9. View Angiosarcoma. Abstract

Iron deficiency anemia associated with an error of iron metabolism in two siblings: A thirty year follow up. Hematology. 1996; 1:65-73.

Iron Deficiency Anemia Associated with an Error of Iron Metabolism in Two Siblings: A Thirty Year Follow Up. Hematology. 1996; 1(1):65-73. View Iron Deficiency Anemia Associated with an Error of Iron Metabolism in Two Siblings: A Thirty Year Follow Up. Abstract

Principles of management of basal and squamous cell carcinoma of the skin. Cancer. 1995 Jan 15; 75(2 Suppl):699-704. View Principles of management of basal and squamous cell carcinoma of the skin. Abstract

Breast cancer in elderly women. Cancer. 1994 Oct 01; 74(7 Suppl):2160-4. View Breast cancer in elderly women. Abstract

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Dominant negative mutants of transcription factor mXBP (CRE-BP1, ATF-2). New Biol. 1992 Apr; 4(4):360-8. View Dominant negative mutants of transcription factor mXBP (CRE-BP1, ATF-2). Abstract

Different epitope structures select distinct mutant forms of an antibody variable region for expression during the immune response. J Exp Med. 1991 Mar 01; 173(3):665-72. View Different epitope structures select distinct mutant forms of an antibody variable region for expression during the immune response. Abstract

Studies on the 6-Aminopenicillanic acid, acyl-coenzyme A acyltransferase from P. chrysogenum and A. nidulans. 1991.

Molecular characterization of the acyl-coenzyme A:isopenicillin N acyltransferase gene (penDE) from Penicillium chrysogenum and Aspergillus nidulans and activity of recombinant enzyme in Escherichia coli. J Bacteriol. 1990 Oct; 172(10):5908-14. View Molecular characterization of the acyl-coenzyme A:isopenicillin N acyltransferase gene (penDE) from Penicillium chrysogenum and Aspergillus nidulans and activity of recombinant enzyme in Escherichia coli. Abstract

Internal sequence analysis of proteins separated on polyacrylamide gels at the submicrogram level: improved methods, applications and gene cloning strategies. Electrophoresis. 1990 Jul; 11(7):537-53. View Internal sequence analysis of proteins separated on polyacrylamide gels at the submicrogram level: improved methods, applications and gene cloning strategies. Abstract

Acyl coenzyme A: 6-aminopenicillanic acid acyltransferase from Penicillium chrysogenum and Aspergillus nidulans. FEBS Lett. 1990 Mar 26; 262(2):342-4. View Acyl coenzyme A: 6-aminopenicillanic acid acyltransferase from Penicillium chrysogenum and Aspergillus nidulans. Abstract

Molecular analysis of original antigenic sin. I. Clonal selection, somatic mutation, and isotype switching during a memory B cell response. J Exp Med. 1989 Oct 01; 170(4):1191-209. View Molecular analysis of original antigenic sin. I. Clonal selection, somatic mutation, and isotype switching during a memory B cell response. Abstract