selected scholarly activity
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chapters
- The Thalassemia Syndromes. 48-58. 2018
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conferences
- Editing Aberrant Splice Sites with Cas9 and Cas12a Efficiently Restores beta-Globin Expression in beta-Thalassemia. Molecular Therapy. 447-448. 2019
- LSD1 Inhibitors Induce Fetal Hemoglobin in Primary Human Erythroid Cells. Blood. 1066-1066. 2018
- Regulating Transcriptional Co-Activator PGC-1α for the Treatment of Sickle Cell Disease. Blood. 2358-2358. 2018
- An Unusual Cause Of Hypoxia. American Journal of Respiratory and Critical Care Medicine. 2016
- A Candidate Trans-Acting Modulator of Fetal Hemoglobin Gene Expression in the Arab-Indian Haplotype of Sickle Cell Anemia. Blood. 2015
- A Library of Sickle Cell Anemia Induced Pluripotent Stem Cells of Diverse Haplotypes and Ethnicities. Blood. 2015
- Polymorphisms Associated with the Arab-Indian Haplotype of Sickle Cell Anemia Are Candidate Fetal Hemoglobin Gene Modulators. Blood. 2015
- DIAGNOSIS OF UNSTABLE ALPHA CHAIN HEMOGLOBINOPATHIES IN THALASSEMIA INTERMEDIA. Pediatric Blood and Cancer. 57-57. 2015
- Analysis of (δβ)0 Thalassemia and HPFH Deletions Suggest a Hierarchy of Cis-Acting Elements Regulating Fetal Hemoglobin Gene Expression.. Blood. 54-54. 2014
- Assessment of HbF QTLs Affecting Disease Severity and Genetic Analysis in Patients Homozygous for Codon 8 (-AA) beta(0)-Thalassemia Mutation. Blood. 2014
- BCL11A enhancer Haplotypes Are Associated with the Distribution of HbF in Arab-Indian and African Haplotype Sickle Cell Anemia but Not the Different Population Levels of HbF. Blood. 2014
- Characterization of a Transcript Found within the HBS1L-MYB Intergenic Region. Blood. 2014
- Multisystem, Induced Pluripotent Stem Cell (iPSC) Modeling Reveals a Role for Growth Differentiation Factors (GDFs) in the Etiology of beta Thalassemia and Ineffective Erythropoiesis. Blood. 2014
- Severe Impairment of γ-Globin Gene Silencing in an Asymptomatic Adult Patient Homozygous for the Codon 8 (–AA) Frame-Shift β0-Thalassemia Mutation. Blood. 1022-1022. 2012
- The Aryl Hydrocarbon Receptor (AhR) Regulates the Production of Bipotential Hematopoietic Progenitor Cells. Blood. 766-766. 2012
- An Approach for Tailoring Diverse Therapeutic Inducers of Fetal Globin to Genetic Modifier Profiles. Blood. 1377-1377. 2011
- Co-Inheritance of Delta Thalassemia Might Contribute to the High Fetal Hemoglobin in Sickle Cell Anemia Patients with the Saudi-Indian Haplotype. Blood. 486-487. 2011
- Characterization of HbF Decline In Compound Heterozygotes for HbS and Deletional Hereditary Persistence of Fetal Hemoglobin.. Blood. 683-683. 2010
- Fetal Hemoglobin In Sickle Cell Anemia: Molecular Characterization of Saudi Patients From the Eastern Province.. Blood. 684-684. 2010
- Fetal Hemoglobin In Sickle Cell Anemia: Molecular Characterization of Saudi Patients From the Southwestern Province.. Blood. 681-681. 2010
- Fetal Hemoglobin In Sickle Cell Anemia: Molecular Characterization of the High Fetal Hemoglobin Phenotype In African American Patients.. Blood. 858-858. 2010
- Variability In Hb A2 levels among Individuals with Beta-Thalassemia Trait: Is Iron Deficiency Associated with Abnormally Low Hb A2?. Blood. 1737-1738. 2010
- Genome-Wide Studies in Sickle Cell Anemia Show Associations Between SNPs in the Olfactory Receptor Gene Cluster and Fetal Hemoglobin Concentration. Blood. 339-339. 2009
- Hemoglobinopathy Work-Up at Hematology Laboratory of Tufts Medical Center: 3-years Experience. Laboratory Investigation. 272A-272A. 2009
- Hemoglobinopathy Work-Up at Hematology Laboratory of Tufts Medical Center: 3-years Experience. Modern Pathology. 272A-272A. 2009
- Fetal Hemoglobin in Sickle Cell Anemia: A Novel Method for High-Resolution Discovery of Associated Genomic Copy Number Variations. Blood. 865-866. 2008
- HbVar database for human hemoglobin variants and thalassemia mutations. Blood Cells, Molecules, and Diseases. 167-168. 2007
- 179: Unrelated donor umbilical cord blood transplant following intrauterine transfusions for treatment of alpha thalassemia major. Transplantation and Cellular Therapy. 66-67. 2007
- Unrelated Donor Umbilical Cord Blood Transplant Following Intrauterine Transfusions for Treatment of Alpha Thalassemia Major.. Blood. 5403-5403. 2006
- alpha 4-integrin(+) endothelium derived from primate embryonic stem cells generates both primitive and definitive hematopoietic cells.. Blood. 205A-205A. 2006
- Sequential analysis of the alpha- and beta-globin gene expressions during erythropoietic differentiation from primate ES cells.. Blood. 496A-496A. 2005
- A mutation in a GATA-1 binding site 5 ' to the (G)gamma-globin gene (nt-567, T > G) may be associated with increased levels of fetal hemoglobin.. Blood. 145A-146A. 2004
- Identification and Characterization of Hemoangiogenic Progenitors during Cynomolgus Monkey ES Cell Differentiation.. Blood. 3222-3222. 2004
- Prenatal detection of hb Bart's disease in maternal blood. RECENT ADVANCES IN PRENATAL GENETIC DIAGNOSIS. 47-50. 2004
- Development of primitive and definitive hematopoiesis from nonhuman primate embryonic stem cells in vitro.. Blood. 329A-330A. 2003
- Non-invasive prenatal diagnosis of beta-thalassemia by mass spectrometric analysis of fetal DNA in maternal plasma.. American Journal of Human Genetics. 189-189. 2003
- Analysis of fetal DNA present in maternal plasma, for the prenatal diagnostic work-up of fetuses at risk of inheriting beta-thalassemia major.. Blood. 236A-236A. 2002
- Laboratory screening for hemoglobinopathies in the province of Ontario: Proficiency and patterns of practice.. Blood. 25B-25B. 2000
- Population screening, molecular confirmation, and prevalence of hemoglobin H disease among newborns in California.. Blood. 25B-25B. 2000
- Sickle cell disease in a four year old child with apparent HbS trait.. Blood. 20B-20B. 2000
- Psychosocial issues of burden for genetic conditions in the Chinese population.. American Journal of Human Genetics. 208-208. 2000
- Alpha-thalassemia mutations detected by multiplex-PCR.. Blood. 196A-196A. 1999
- Assessment of a xi-globin enzyme-linked immuno-sorbent assay (ELISA) for the detection of alpha-thalassemia trait.. Blood. 424A-424A. 1999
- Ermap, A gene coding for a novel erythroid specific adhesion/receptor membrane protein.. Blood. 592A-592A. 1999
- Genetic modifiers of hemoglobinopathies. Blood. 68-69. 1999
- Screening for silent globin gene mutations in areas with high prevalence of thalassaemia.. Blood. 23B-23B. 1999
- Electronic access to sequence alignments, experimental results, and human mutations as an aid to studying globin gene regulation. The FASEB Journal. A1313-A1313. 1998
- Electronic and printed syllabi describing 1) human hemoglobin variants and 2) determinants of thalassemia and HPFH.. Blood. 2810-2810. 1997
- Multiprobe fluorescence in situ hybridisation (FISH) telomere assay detects cryptic chromosome rearrangements in the alpha thalassaemia mental retardation (ATR-16) syndrome.. American Journal of Human Genetics. A128-A128. 1997
- Roles for enzymes controlling asparagine-linked oligosaccharide diversification in dyserythropoietic anemia and immunodeficiency. The FASEB Journal. A1443-A1443. 1997
- Broad spectrum of beta-thalassemia mutations in Alexandria, Egypt.. Blood. 2818-2818. 1996
- Comparative study of laboratory diagnosis of alpha-thalassemia.. Blood. 2838-2838. 1996
- Expressed sequence tag (EST) analysis of murine yolk sac derived embryonic erythroid cells.. Blood. 3154-3154. 1996
- Novel mutation of the alpha 2-globin gene initiation codon (ATG->A-G) in a Vietnamese girl with Hb H disease.. Blood. 2839-2839. 1996
- De Novo deletion of the entire zeta-alpha globin gene cluster in a girl with HB H disease. Blood. 21-21. 1995
- Identification of genes during murine embryonic erythropoiesis. Blood. 22-22. 1995
- PARTIAL RESCUE OF RB1-/- MICE BY AN RB1 MINIGENE. Journal of Cellular Biochemistry. 84-84. 1995
- IDENTIFICATION OF A NOVEL TERMINATION CODON MUTATION (TAA-]TAT) IN THE ALPHA-2 GLOBIN GENE OF A GIRL WITH HEMOGLOBIN-H DISEASE. Blood. A223-A223. 1993
- PRENATAL-DIAGNOSIS OF HEMOGLOBINOPATHIES IN ONTARIO - A REVIEW OF 100 CASES. Blood. A476-A476. 1993
- SPECTRUM OF BETA-THALASSEMIA MUTATIONS IN ONTARIO - 3 NOVEL FRAMESHIFT MUTATIONS IDENTIFIED BY NUCLEOTIDE SEQUENCING. Blood. A476-A476. 1993
- RAPID IMMUNOCYTOLOGICAL SCREENING FOR ADULT CARRIERS OF THE SOUTHEAST-ASIAN ALPHA-THALASSEMIA-1 DELETION (SEA). American Journal of Human Genetics. 1508-1508. 1993
- SONOGRAPHIC FINDINGS IN HOMOZYGOUS ALPHA-DEGREES THALASSEMIA PRIOR TO THE ONSET OF HYDROPS. American Journal of Human Genetics. 1813-1813. 1993
- SPECTRUM OF BETA-THALASSEMIA MUTATIONS IN GREEK-CANADIANS - IDENTIFICATION OF A NOVEL CIRCLE-THALASSEMIA MUTATION, FRAMESHIFT CODONS 9/10(+T). American Journal of Human Genetics. 1510-1510. 1993
- A SIMPLE IMMUNOCYTOLOGICAL TEST FOR DETECTING ADULT CARRIERS OF THE (-SEA/) DELETIONAL ALPHA-THALASSEMIA. Clinical Research. A295-A295. 1993
- ANTI-ZETA WILL RELIABLY DETECT (SEA) DOUBLE ALPHA-DELETIONS. American Journal of Human Genetics. 329-329. 1991
- ANTI-ZETA SCREENING FOR ALPHA-1 THALASSEMIAS. Clinical Research. A429-A429. 1991
- ANTI-ZETA TESTING FOR ALPHA-1 THALASSEMIA IN NEWBORNS. Pediatric Research. A143-A143. 1991
- ANTI-ZETA-SCREENING FOR DOUBLE-DELETION ALPHA-THALASSEMIAS. Clinical Research. A33-A33. 1991
- HEMOGLOBIN S-BETA-DEGREES-THALASSEMIA - THE 1.4 KB DELETION IS ASSOCIATED WITH A RELATIVELY MILD PHENOTYPE. Clinical Research. A973-A973. 1990
- A NOVEL AND SIMPLE SCREENING-TEST FOR ALPHA-THALASSEMIA-1 CARRIERS. Clinical Research. A418-A418. 1987
- A NOVEL AND SIMPLE SCREENING-TEST FOR ALPHA-THALASSEMIA-1. Hemoglobin. 586-586. 1987
- IDENTIFICATION OF FACTOR-IX (FIX) VARIANTS AND HEMOPHILIA-B CARRIERS USING CLONED DNA PROBES. Clinical Research. A662-A662. 1986
- DNA PROBING ASSAY FOR THE IDENTIFICATION OF FACTOR-IX (FIX) VARIANTS AND HEMOPHILIA-B CARRIERS. Ricerca in Clinica e in Laboratorio. 163-163. 1986
- HEMOPHILIA-B CARRIER AND FACTOR-IX (FIX) VARIANT DETECTION USING DNA PROBES. Clinical and Investigative Medicine. A78-A78. 1986
- PRESENCE OF EMBRYONIC ZETA-GLOBIN CHAINS IN NEWBORN CORD BLOOD AND ADULT ALPHA-THALASSEMIA PATIENTS. Clinical Research. A481-A481. 1983
- ADULT MURINE MARROW STEM-CELLS CAN SEED FETAL HEMATOPOIETIC TISSUES AND PERSIST INTO ADULTHOOD. Clinical Research. A501-A501. 1982
- ANTI-HB PORTLAND ANTIBODIES - A SENSITIVE PROBE FOR HUMAN-EMBRYONIC HEMOGLOBIN. Clinical Research. A313-A313. 1982
- EVIDENCE FOR THE SPLEEN BEING THE SITE OF PRODUCTION OF HUMORAL INHIBITORS OF HEMATOPOIESIS. Clinical Research. A516-A516. 1981
- ABSENT OR DEFECTIVE ERYTHROID STEM-CELLS (BFU-E) IN REFRACTORY ANEMIAS. Clinical Research. A306-A306. 1980
- YOLK-SAC DERIVED ERYTHROID PROGENITOR CELLS (BFU-E). Clinical Research. A290-A290. 1979
- IMMUNOCYTOCHEMICAL IDENTIFICATION OF ADULT AND EMBRYONIC HEMOGLOBINS IN YOLK-SAC DERIVED ERYTHROCYTES DURING NORMAL MOUSE FETAL DEVELOPMENT. Clinical Research. A342-A342. 1978
- ADULT HEMOGLOBIN IN PRIMITIVE NUCLEATED ERYTHROCYTES DURING NORMAL MOUSE FETAL DEVELOPMENT. Clinical Research. A334-A334. 1977
- ADULT HEMOGLOBIN IN YOLK-SAC DERIVED PRIMITIVE NUCLEATED ERYTHROCYTES IN NORMAL AND MUTANT TS-+ FETAL MICE. Blood. 102-102. 1977
- DEFECT IN DIFFERENTIATION FROM BFU-E TO CFU-E DURING EARLY FETAL HEPATIC ERYTHROPOIESIS IN STEEL MUTANT MICE. Blood. 124-124. 1977
- UNEQUAL ALPHA-GLOBIN AND BETA-GLOBIN MESSENGER-RNA IN RETICULOCYTES OF NORMAL AND MUTANT F-F FETAL MICE. Blood. 104-104. 1977
- FETAL ERYTHROPOIESIS IN FLEXED TAILED MUTANT (F/F) MICE. The FASEB Journal. 365-365. 1976
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journal articles
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Clinical phenotypes of three children with sickle cell disease caused by
HbS /Sicilian (δβ)0‐thalassemia deletion. American Journal of Hematology. 97:E156-E158. 2022 -
Pharmacologic induction of
PGC ‐1α stimulates fetal haemoglobin gene expression. British Journal of Haematology. 197:97-109. 2022 - Alpha‐thalassemia. Case report alpha‐thalassemia in a Costa Rican family, A case report. Clinical Case Reports. 9:291-293. 2021
- BCL2L1 is associated with γ-globin gene expression. Blood Advances. 3:2995-3001. 2019
- Inhibition of LSD1 by small molecule inhibitors stimulates fetal hemoglobin synthesis. Blood. 133:2455-2459. 2019
- Editing aberrant splice sites efficiently restores β-globin expression in β-thalassemia. Blood. 133:2255-2262. 2019
- The association of HBG2, BCL11A, and HMIP polymorphisms with fetal hemoglobin and clinical phenotype in Iraqi Kurds with sickle cell disease. International Journal of Laboratory Hematology. 41:87-93. 2019
- Hb Adana (HBA2 or HBA1: c.179G > A) and alpha thalassemia: Genotype–phenotype correlation. Pediatric Blood and Cancer. 65:e27220. 2018
- Induced pluripotent stem cell–based mapping of β-globin expression throughout human erythropoietic development. Blood Advances. 2:1998-2011. 2018
- Notch and Aryl Hydrocarbon Receptor Signaling Impact Definitive Hematopoiesis from Human Pluripotent Stem Cells. Stem Cells. 36:1004-1019. 2018
- A Mild Phenotype of Severe β+ Thalassemia in a 16-Month-Old Boy. Journal of Pediatric Hematology/Oncology. 40:e145-e147. 2018
- A long noncoding RNA from the HBS1L-MYB intergenic region on chr6q23 regulates human fetal hemoglobin expression. Blood Cells, Molecules, and Diseases. 69:1-9. 2018
- A variant Sp1 (R218Q) transcription factor might enhance HbF expression in β0‐thalassaemia homozygotes. British Journal of Haematology. 180:755-757. 2018
- A phased SNP-based classification of sickle cell anemia HBB haplotypes. BMC Genomics. 18:608. 2017
- The clinical severity of hemoglobin S/Black (Aγδβ)0‐thalassemia. Pediatric Blood and Cancer. 64. 2017
- A Comprehensive, Ethnically Diverse Library of Sickle Cell Disease-Specific Induced Pluripotent Stem Cells. Stem Cell Reports. 8:1076-1085. 2017
- Hb Presbyterian (HBB: c.327C>G) in a Nicaraguan Family. Hemoglobin. 41:50-52. 2017
- A candidate transacting modulator of fetal hemoglobin gene expression in the Arab—Indian haplotype of sickle cell anemia. American Journal of Hematology. 91:1118-1122. 2016
- Variants of ZBTB7A (LRF) and its β-globin gene cluster binding motifs in sickle cell anemia. Blood Cells, Molecules, and Diseases. 59:49-51. 2016
- Homozygosity for a haplotype in the HBG2‐OR51B4 region is exclusive to Arab‐Indian haplotype sickle cell anemia. American Journal of Hematology. 91:E308-E311. 2016
- Mild Microcytic Anemia in an Infant with a Compound Heterozygosity for Hb C (HBB: c.19G > A) and Hb Osu Christiansborg (HBB: c.157G > A). Hemoglobin. 40:208-209. 2016
- Diverse hematological phenotypes of β‐thalassemia carriers. Annals of the New York Academy of Sciences. 1368:49-55. 2016
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The genetic basis of asymptomatic codon 8 frame‐shift (
HBB :c25_26delAA ) β0‐thalassaemia homozygotes. British Journal of Haematology. 172:958-965. 2016 - Hereditary Persistence of Fetal Hemoglobin Caused by Single Nucleotide Promoter Mutations in Sickle Cell Trait and Hb SC Disease. Hemoglobin. 40:64-65. 2016
- Therapeutic fetal-globin inducers reduce transcriptional repression in hemoglobinopathy erythroid progenitors through distinct mechanisms. Blood Cells, Molecules, and Diseases. 56:62-69. 2016
- MALDI-ISD Mass Spectrometry Analysis of Hemoglobin Variants: a Top-Down Approach to the Characterization of Hemoglobinopathies. Journal of the American Society for Mass Spectrometry. 26:1299-1310. 2015
- Fanconi’s Anemia Effect or Sickle Cell Anemia Effect: That is the Question. Hemoglobin. 39:287-289. 2015
- BCL11A enhancer haplotypes and fetal hemoglobin in sickle cell anemia. Blood Cells, Molecules, and Diseases. 54:224-230. 2015
- The First Report of a Homozygous Codons 9/10 (+T) β-Thalassemia Mutation in a Turkish Patient. Hemoglobin. 39:66-68. 2015
- Hb Youngstown [β101(G3)Glu → Ala;HBB: c.305A > C]: An Unstable Hemoglobin Variant Causing Severe Hemolytic Anemia. Hemoglobin. 38:381-384. 2014
- The genetics of hemoglobin A2 regulation in sickle cell anemia. American Journal of Hematology. 89:1019-1023. 2014
- A phase 2 trial of HQK-1001 in HbE-β thalassemia demonstrates HbF induction and reduced anemia. Blood. 123:1956-1957. 2014
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A phase 2 study of
HQK ‐1001, an oral fetal haemoglobin inducer, in β‐thalassaemia intermedia. British Journal of Haematology. 164:456-458. 2014 -
Sickle cell disease in
S audiA rabia: the phenotype in adults with theA rab‐I ndian haplotype is not benign. British Journal of Haematology. 164:597-604. 2014 - Fetal hemoglobin in sickle cell anemia: a glass half full?. Blood. 123:481-485. 2014
- HbC disorders. Blood. 122:3698-3698. 2013
- Novel dominant β‐thalassemia: Hb Boston‐Kuwait [Codon 139/140(+T)]. Pediatric Blood and Cancer. 60:E131-E134. 2013
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Gigantic splenomegaly in a 27‐year‐old male of
S outh‐E astA sian descent with concurrent diagnosis of myeloproliferative neoplasm and hemoglobinH disease. European Journal of Haematology. 91:284-285. 2013 - Hemoglobin shady grove: A novel fetal methemoglobin variant. Pediatric Blood and Cancer. 60:E55-E56. 2013
- The aryl hydrocarbon receptor directs hematopoietic progenitor cell expansion and differentiation. Blood. 122:376-385. 2013
- Massive splenic infarction in an adolescent with hemoglobin S‐HPFH. Pediatric Blood and Cancer. 60:E49-E51. 2013
- Fetal hemoglobin in sickle cell anemia: Genetic studies of the Arab-Indian haplotype. Blood Cells, Molecules, and Diseases. 51:22-26. 2013
- Genetic studies of fetal hemoglobin in the Arab‐Indian haplotype sickle cell‐β0 thalassemia. American Journal of Hematology. 88:531-532. 2013
- Identification of the first mutation in a BRE motif of the β-globin gene and its inheritance with two other α-globin gene mutations in a Lebanese family.. Hemoglobin. 37:171-175. 2013
- Severe fetal and neonatal hemolytic anemia due to a 198 kb deletion removing the complete β‐globin gene cluster. Pediatric Blood and Cancer. 59:941-944. 2012
- Pulse oximetry screening for critical congenital heart defects. The Lancet. 380:1305-1306. 2012
- A functional promoter polymorphism of the δ‐globin gene is a specific marker of the Arab‐Indian haplotype. American Journal of Hematology. 87:824-826. 2012
- Compound Heterozygosity for Hb S [β6(A3)Glu→Val] and Hb Kenya (Aγ81Leu-β86Ala) in a Ugandan Woman. Hemoglobin. 36:270-275. 2012
- Fetal hemoglobin in sickle cell anemia: Molecular characterization of the unusually high fetal hemoglobin phenotype in African Americans. American Journal of Hematology. 87:217-219. 2012
- Trinucleotide Repeat Containing 6a (Tnrc6a)-mediated MicroRNA Function Is Required for Development of Yolk Sac Endoderm. Journal of Biological Chemistry. 287:5979-5987. 2012
- Fetal haemoglobin levels and haematological characteristics of compound heterozygotes for haemoglobin S and deletional hereditary persistence of fetal haemoglobin. British Journal of Haematology. 156:259-264. 2012
- Is HbA2 level a reliable diagnostic measurement for β‐thalassemia trait in people with iron deficiency?. American Journal of Hematology. 87:114-116. 2012
- Erratum to: Unexpectedly low pulse oximetry measurements associated with variant hemoglobins: A systematic review. American Journal of Hematology. 86:722-725. 2011
- Fetal hemoglobin in sickle cell anemia. Blood. 118:19-27. 2011
- Fetal hemoglobin in sickle cell anemia: Saudi patients from the Southwestern province have similar HBB haplotypes but higher HbF levels than African Americans. American Journal of Hematology. 86:612-614. 2011
- A 3-bp deletion in the HBS1L-MYB intergenic region on chromosome 6q23 is associated with HbF expression. Blood. 117:4935-4945. 2011
- Hb A2Hong Kong – A Novel δ-Globin Variant in a Chinese Family Masks the Diagnosis of β-Thalassemia Trait. Hemoglobin. 35:162-165. 2011
- Systematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approach. Nature Genetics. 43:295-301. 2011
- The effects of hydroxycarbamide and magnesium on haemoglobin SC disease: results of the multi‐centre CHAMPS trial. British Journal of Haematology. 152:771-776. 2011
- Unexpectedly low pulse oximetry measurements associated with variant hemoglobins: A systematic review. American Journal of Hematology. 85:882-885. 2010
- New and Known β-Thalassemia Determinants Masked by Known and New δ Gene Defects [Hb A2-Ramallah or δ6(A3)Glu→Gln,GAG>>CAG]. Hemoglobin. 34:445-450. 2010
- Fetal globin gene inducers: novel agents and new potential. Annals of the New York Academy of Sciences. 1202:158-164. 2010
- Fetal hemoglobin in sickle cell anemia: genome-wide association studies suggest a regulatory region in the 5′ olfactory receptor gene cluster. Blood. 115:1815-1822. 2010
- Sickle cell disease caused by heterozygosity for Hb S and novel LCR deletion: Report of two patients. American Journal of Hematology. 84:603-606. 2009
- Mutations in the paralogous human α-globin genes yielding identical hemoglobin variants. Annals of Hematology. 88:535-543. 2009
- Hemoglobin SE Disease in Maine, and Severe Thalassemia in New Hampshire. Journal of Pediatric Hematology/Oncology. 31:307-307. 2009
- BCL11A represses HBG transcription in K562 cells. Blood Cells, Molecules, and Diseases. 42:144-149. 2009
- Hemoglobin Kenya composed of α‐ and (Aγβ)‐fusion‐globin chains, associated with hereditary persistence of fetal hemoglobin. American Journal of Hematology. 84:55-58. 2009
- Imputation of missing genotypes: an empirical evaluation of IMPUTE. BMC Genetics. 9:85. 2008
- BCL11A is a major HbF quantitative trait locus in three different populations with β-hemoglobinopathies. Blood Cells, Molecules, and Diseases. 41:255-258. 2008
- A T-to-G Transversion at Nucleotide −567 Upstream of HBG2 in a GATA-1 Binding Motif Is Associated with Elevated Hemoglobin F. Molecular and Cellular Biology. 28:4386-4393. 2008
- Variation and heritability of Hb F and F‐cells among β‐thalassemia heterozygotes in Hong Kong. American Journal of Hematology. 83:458-464. 2008
- β‐thalassemia intermedia due to compound heterozygosity for two β‐globin gene promoter mutations, including a novel TATA box deletion. Pediatric Blood and Cancer. 50:363-366. 2008
- THAL for THAL?. Blood. 110:2788-2789. 2007
- Sickle cell disease caused by Hb S/Québec‐CHORI: Treatment with hydroxyurea and response. Pediatric Blood and Cancer. 49:207-210. 2007
- Hemoglobin SE disease—A concise review. American Journal of Hematology. 82:643-649. 2007
- PhenCode: connecting ENCODE data with mutations and phenotype. Human Mutation. 28:554-562. 2007
- Hb Evora [ 2 35, Ser->Pro], a novel hemoglobin variant associated with an -thalassemia phenotype. Haematologica. 92:e68-e68. 2007
- α4-Integrin+ endothelium derived from primate embryonic stem cells generates primitive and definitive hematopoietic cells. Blood. 109:2406-2415. 2007
- HbVar database of human hemoglobin variants and thalassemia mutations: 2007 update. Human Mutation. 28:206-206. 2007
- Sickle cell disease due to compound heterozygosity for Hb S and a novel 7.7‐kb β‐globin gene deletion. European Journal of Haematology. 78:82-85. 2007
- Two New α-Thalassemia Frameshift Mutations. Hemoglobin. 31:135-139. 2007
- Sequential Analysis of α‐ and β‐Globin Gene Expression During Erythropoietic Differentiation from Primate Embryonic Stem Cells. Stem Cells. 24:2627-2636. 2006
- Hemoglobinopathies mimicking Hb S/β‐thalassemia: Hb S/S with α‐thalassemia and Hb S/Volga. American Journal of Hematology. 81:361-365. 2006
- Identification and Characterization of Hemoangiogenic Progenitors During Cynomolgus Monkey Embryonic Stem Cell Differentiation. Stem Cells. 24:1348-1358. 2006
- Determining the cause of patchwork HBA1 and HBA2 genes: recurrent gene conversion or crossing over fixation events. Haematologica. 91:297-302. 2006
- Determining the cause of patchwork HBA1 and HBA2 genes: recurrent gene conversion or crossing over fixation events.. Haematologica. 91:297-302. 2006
- Diagnostic Pitfall in PCR-Based α-Thalassemia Genotyping Resulting from a (G→C) Polymorphism at Nucleotide 71 3′ to the α2-Globin Gene Termination Codon. Clinical Chemistry. 52:536-537. 2006
- Screening and counseling for thalassemia. Blood. 107:1735-1737. 2006
- In Memoriam. Hemoglobin. 30:1-2. 2006
- Prenatal Diagnosis of Hemoglobinopathies in Ontario, Canada. Annals of the New York Academy of Sciences. 1054:507-510. 2005
- α‐Thalassemia: Hb H Disease and Hb Barts Hydrops Fetalis. Annals of the New York Academy of Sciences. 1054:25-32. 2005
- Dominantly inherited β thalassaemia intermedia caused by a new single nucleotide deletion in exon 2 of the β globin gene: Hb morgantown (β91 CTG>CG). Journal of Clinical Pathology - Clinical Molecular Pathology. 58:1110-1112. 2005
- Patients with thalassemia in the United States. Blood. 105:4896-4897. 2005
- Alpha-thalassaemia and population health in Southeast Asia. Annals of Human Biology. 32:123-130. 2005
- Simple non-invasive prenatal detection of Hb Bart's disease by analysis of fetal erythrocytes in maternal blood. Prenatal Diagnosis. 25:123-128. 2005
- Hemoglobin Titusville, a low oxygen affinity variant hemoglobin, in a family of Northern European background. American Journal of Hematology. 77:384-386. 2004
- A Novel Sickle Hemoglobin: Hemoglobin S-South End. Journal of Pediatric Hematology/Oncology. 26:773-776. 2004
- Atorvastatin Restores Endothelial Function in Normocholesterolemic Smokers Independent of Changes in Low-Density Lipoprotein. Circulation Research. 95:217-223. 2004
- MS analysis of single-nucleotide differences in circulating nucleic acids: Application to noninvasive prenatal diagnosis. Proceedings of the National Academy of Sciences of the United States of America. 101:10762-10767. 2004
- Erratum. American Journal of Hematology. 76:99-99. 2004
- Development of primitive and definitive hematopoiesis from nonhuman primate embryonic stem cells in vitro. Development. 131:1869-1879. 2004
- Hb Hope [β136(H14)Gly→Asp (GGT→GAT)]: Interactions with Hb S [β6(A3)Glu→Val (GAG→GTG)], Other Variant Hemoglobins and Thalassemia. Hemoglobin. 28:277-285. 2004
- Improvements in the HbVar database of human hemoglobin variants and thalassemia mutations for population and sequence variation studies. Nucleic Acids Research (NAR). 32:537D-541. 2004
- β‐thalassemia in association with a new δ‐chain hemoglobin variant [δ116(g18)Arg→Leu]: Implications for carrier screening and prenatal diagnosis. American Journal of Hematology. 74:179-181. 2003
- Single-Tube Multiplex-PCR Screen for Anti-3.7 and Anti-4.2 α-Globin Gene Triplications. Clinical Chemistry. 49:1679-1682. 2003
- Multiple Minisequencing Screen for Seven Southeast Asian Nondeletional α-Thalassemia Mutations. Clinical Chemistry. 49:800-803. 2003
- Hemoglobin H disease: not necessarily a benign disorder. Blood. 101:791-800. 2003
- Good practice guidelines for laboratory investigation of hemoglobinopathies.. Laboratory Hematology. 9:237-245. 2003
- Identification of a New β-Thalassemia Nonsense Mutation [Codon 59 (AAG→TAG)]. Hemoglobin. 27:201-203. 2003
- Identification of a new hemoglobin variant: Hb St. Joseph's [β77(EF1)His→Leu]. Hemoglobin. 27:181-183. 2003
- Evaluation of a Dual Hemoglobin A2/A1c Quantitation Kit on the Bio-Rad Variant II Automated Hemoglobin Analyzer. Archives of Pathology and Laboratory Medicine. 126:1494-1500. 2002
- Prenatal exclusion of β thalassaemia major by examination of maternal plasma. The Lancet. 360:998-1000. 2002
- HbVar: A relational database of human hemoglobin variants and thalassemia mutations at the globin gene server. Human Mutation. 19:225-233. 2002
- DOMINANT β-THALASSEMIA DUE TO A NEWLY IDENTIFIED FRAMESHIFT MUTATION IN EXON 3 (CODON 113, GTG → TG). Hemoglobin. 26:83-86. 2002
- IDENTIFICATION OF TWO NEW β-THALASSEMIA SPLICE MUTATIONS: IVS-I-1 (G → C) AND IVS-I (−2) (A → C). Hemoglobin. 26:87-89. 2002
- Routine Screening of (--<sup>SEA</sup>) α-Thalassemia Deletion by an Enzyme-Linked Immunosorbent Assay for Embryonic ζ-Globin Chains. Acta Haematologica. 108:8-12. 2002
- Detection of Severe Nondeletionalα-Thalassemia Mutations Using a Single-Tube Multiplex ARMS Assay. Genetic Testing and Molecular Biomarkers. 5:327-329. 2001
- Hb H hydrops foetalis syndrome: a case report and review of literature. British Journal of Haematology. 115:72-78. 2001
- Hemoglobin H (Hb H) disease in Canada: Molecular diagnosis and review of 116 cases. American Journal of Hematology. 68:11-15. 2001
- Human ERMAP: An Erythroid Adhesion/Receptor Transmembrane Protein. Blood Cells, Molecules, and Diseases. 27:938-949. 2001
- Embryonic and fetal globins are expressed in adult erythroid progenitor cells and in erythroid cell cultures. Prenatal Diagnosis. 21:529-539. 2001
- Universal Newborn Screening for Hb H Disease in California. Genetic Testing and Molecular Biomarkers. 5:93-100. 2001
- Should we screen for globin gene mutations in blood samples with mean corpuscular volume (MCV) greater than 80 fL in areas with a high prevalence of thalassaemia?. Journal of Clinical Pathology - Clinical Molecular Pathology. 54:317-320. 2001
- The alpha-globin gene cluster: genetics and disorders.. Clinical and Investigative Medicine. 24:103-109. 2001
- Monosomy for the most telomeric, gene-rich region of the short arm of human chromosome 16 causes minimal phenotypic effects. European Journal of Human Genetics. 9:217-225. 2001
- Haemoglobin Q-Thailand and hereditary spherocytosis in a Chinese family. International Journal of Laboratory Hematology. 23:53-55. 2001
- Sickle cell disease: no longer a single gene disorder. Current Opinion in Pediatrics. 13:22-27. 2001
- DATABASES OF HUMAN HEMOGLOBIN VARIANTS AND OTHER RESOURCES AT THE GLOBIN GENE SERVER. Hemoglobin. 25:183-193. 2001
- IDENTIFICATION OF TWO NEW α-THALASSEMIA MUTATIONS IN EXON 2 OF THE α1-GLOBIN GENE. Hemoglobin. 25:391-396. 2001
- NOVEL β-THALASSEMIA MUTATION IN A β-THALASSEMIA INTERMEDIA PATIENT [POLY A (AATAAA →GATAAA)]. Hemoglobin. 25:103-105. 2001
- A Reliable Screening Test to Identify Adult Carriers of the (--SEA) alpha0-Thalassemia Deletion. American Journal of Clinical Pathology. 114:927-931. 2000
- Laboratory screening for hemoglobinopathies in the province of ontario: Proficiency and patterns of practice. Blood. 96. 2000
- Population screening, molecular confirmation, and prevalence of hemoglobin H disease among newborns in California. Blood. 96. 2000
- Sickle cell disease in a four year old child with apparent HBS trait. Blood. 96. 2000
- Compound Heterozygosity For Triplicated α‐Globin Gene and (– –SEA) α‐Globin Gene Deletion: Implication For Thalassaemia Screening. British Journal of Haematology. 110:493-499. 2000
- β‐thalassemia intermedia caused by compound heterozygosity for Hb Malay (β codon 19 AAC→AGC; Asn→Ser) and codons 41/42 (‐CTTT) β 0 ‐thalassemia mutation. American Journal of Hematology. 64:206-209. 2000
- Ermap, a gene coding for a novel erythroid specific adhesion/receptor membrane protein. Gene. 242:337-345. 2000
- Homozygous HB Sallanches [α104(G11)CYS→TYR] in a Pakistani Child with HB H Disease. Hemoglobin. 24:355-357. 2000
- PCR-based diagnosis of the Filipino (??FIL) and Thai (??THAI) ?-thalassemia-1 deletions. American Journal of Hematology. 63:54-56. 2000
- Second Report of Hb Toulon [α77(EF6)Pro→His] in a Canadian Family of Italian Descent. Hemoglobin. 24:359-360. 2000
- Embryonic Hemoglobins Are Expressed in Definitive Cells. Blood. 94:359-361. 1999
- Compound Heterozygosity for Hb S and Hb G-Copenhagen. Hemoglobin. 23:379-381. 1999
- Spectrum of β-Thalassemia Mutations in Egypt. Hemoglobin. 23:255-261. 1999
- Coinheritance of α-thalassemia-1 and hemoglobin E/β0-thalassemia: Practical implications for neonatal screening and genetic counseling. Journal of Pediatrics. 132:863-865. 1998
- An electronic database of human hemoglobin variants on the World Wide Web.. Blood. 91:2643-2644. 1998
- Hydrops Fetalis Caused by α-Thalassemia: An Emerging Health Care Problem. Blood. 91:2213-2222. 1998
- PROGRAM DESCRIPTION. Genomics. 47:429-437. 1998
- Access to a Syllabus of Human Hemoglobin Variants (1996) Via the World Wide Web. Hemoglobin. 22:113-127. 1998
- Novel β-Thalassemia Mutation In Patients of Jewish Descent: [β30(B12)ARGGLY OR IVS-I (-2) (AG)]. Hemoglobin. 22:83-85. 1998
- De novo mutation of the β-globin gene initiation codon (ATG→AAG) in a Northern European. American Journal of Hematology. 56:179-182. 1997
- Murine Hn1 on Chromosome 11 is expressed in hemopoietic and brain tissues. Mammalian Genome. 8:695-696. 1997
- Correspondence. British Journal of Haematology. 97:504-510. 1997
- Prevalence and Genotypes of α- and β-Thalassemia Carriers in Hong Kong — Implications for Population Screening. New England Journal of Medicine. 336:1298-1301. 1997
- Novel Mutation of the α2-Globin Gene Initiation Codon (Atg→A-G) in a Vietnamese Girl with Hb H Disease. Hemoglobin. 21:469-472. 1997
- Novel β°-Thalassemia Mutation in a Canadian Woman of British Descent (Codons 72/73, -Agtga, +T). Hemoglobin. 21:385-387. 1997
- Comparison of haemoglobin H inclusion bodies with embryonic zeta globin in screening for alpha thalassaemia.. Journal of Clinical Pathology - Clinical Molecular Pathology. 48:861-864. 1995
- Severity of β‐thalassemia due to genotypes involving the IVS‐I‐6 (T→C) mutation. American Journal of Hematology. 50:15-19. 1995
- Human embryonic zeta-globin gene expression in mouse-human hybrid erythroid cell lines. Blood. 86:1212-1217. 1995
- cDNA Cloning of Murine Nrf 2 Gene, Coding for a p45 NF-E2-Related Transcription Factor. Biochemical and Biophysical Research Communications. 209:40-46. 1995
- Novel seventeen basepair deletion in exon 3 of the β-globin gene. Human Mutation. 6:252-253. 1995
- Hb E/Hb LeporeHollandia in a family from Bangladesh. American Journal of Hematology. 47:262-265. 1994
- Filipino ?-thalassemia due to a large deletion: identification of the deletion end points and polymerase chain reaction (PCR)-based diagnosis. Human Genetics. 94:530-532. 1994
- Identification of a novel β0 ‐ thalassaemia mutation in a greek family and subsequent prenatal diagnosis. Prenatal Diagnosis. 14:929-932. 1994
- DNA diagnosis of Hb S and Hb Caribbean (α2β291 Leu→Arg) in a Jamaican family. American Journal of Hematology. 47:33-35. 1994
- Identification of a novel termination codon mutation (TAA-->TAT, Term-- >Tyr) in the alpha 2 globin gene of a Laotian girl with hemoglobin H disease [letter]. Blood. 83:3418-3420. 1994
- Thymic CD45 tyrosine phosphatase regulates apoptosis and MHC-restricted negative selection.. Journal of Immunology. 152:3793-3805. 1994
- Anti-ζ Antibody Screening for α-Thalassemia Using Dried Filter Paper Blood. Molecular Genetics and Metabolism. 51:80-84. 1994
- Specific CD45 isoforms differentially regulate T cell receptor signaling.. EMBO Journal. 13:798-807. 1994
- Hb FM-Fort Ripley: Confirmation of autosormal dominant inheritance and diagnosis by PCR and direct nucleotide sequencing. Human Mutation. 3:239-242. 1994
- Specific CD45 Isoforms Regulate T Cell Ontogeny and Are Functionally Distinct in Modifying Immune Activation. Advances in Experimental Medicine and Biology. 365:149-166. 1994
- Immunocytological test to detect adult carriers of (--SEA/) deletional α-thalassaemia. The Lancet. 342:1145-1147. 1993
- Carrier detection and prenatal diagnosis of hemoglobinopathies in Ontario.. Clinical and Investigative Medicine. 16:358-371. 1993
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Detection of the (–
SEA ) double α‐globin gene deletion by a simple immunologic assay for embryonic ζ‐globin chains. American Journal of Hematology. 44:22-28. 1993 - Expression of embryonic zeta-globin and epsilon-globin chains in a 10- year-old girl with congenital anemia. Blood. 81:1636-1640. 1993
- Identification of two novel β°-thalassemia mutations in a filipino family: Frameshift codon 67 (− TG) and a β-globin gene deletion. Human Mutation. 2:375-379. 1993
- Clinical course and molecular characterization of a compound heterozygote for sickle hemoglobin and hemoglobin kenya. American Journal of Hematology. 41:289-291. 1992
- The T----C substitution at nucleotide + 1570 of the beta-globin gene is a polymorphism [letter; comment]. Blood. 80:1365-1365. 1992
- Tissue- and site-specific DNA recombination in transgenic mice.. Proceedings of the National Academy of Sciences of the United States of America. 89:6861-6865. 1992
- Human embryonic zeta-globin chain expression in deletional alpha- thalassemias. Blood. 80:517-522. 1992
- 2 NOVEL BETA-THALASSEMIA MUTATIONS IN THE 5' AND 3' NONCODING REGIONS OF THE BETA-GLOBIN GENE. Blood. 79:1342-1346. 1992
- Identification of an extensive ζ‐α globin gene deletion in a Chinese individual. British Journal of Haematology. 80:378-380. 1992
- Two novel beta-thalassemia mutations in the 5' and 3' noncoding regions of the beta-globin gene [see comments]. Blood. 79:1342-1346. 1992
- A rapid and simple electrophoretic method for the detection of mutations involving small insertion or deletion: application to ?-thalassemia. Human Genetics. 87:728-730. 1991
- Hb S/β°‐Thalassemia due to the ˜1.4‐kb deletion is associated with a relatively mild phenotype. American Journal of Hematology. 38:108-112. 1991
- High hemoglobin A2 beta-thalassemia.. Translational Research. 118:382. 1991
- Expression of embryonic globins by erythroid cells in juvenile chronic myelocytic leukemia. Blood. 77:2569-2576. 1991
- A new frameshift β°‐thalassemia mutation (codons 27–28 +C) found in a Chinese family. American Journal of Hematology. 37:6-8. 1991
- High hemoglobin A2 beta 0-thalassemia due to a 532-basepair deletion of the 5' beta-globin gene region.. Blood. 77:1100-1103. 1991
- The thalassemias and health care in Canada: a place for genetics in medicine.. CANADIAN MEDICAL ASSOCIATION JOURNAL. 144:21-23. 1991
- Hemoglobin Bart's Disease in an Italian Boy. New England Journal of Medicine. 323:179-182. 1990
- Clinical features and molecular analysis of the alpha thalassemia/mental retardation syndromes. II. Cases without detectable abnormality of the alpha globin complex.. American Journal of Human Genetics. 46:1127-1140. 1990
- Hemopoietic stem cells in murine embryonic yolk sac and peripheral blood.. Proceedings of the National Academy of Sciences of the United States of America. 86:7456-7459. 1989
- Human embryonic zeta-globin chains in fetal and newborn blood. Blood. 74:1409-1414. 1989
- A novel monoclonal antibody based diagnostic test for alpha-thalassemia- 1 carriers due to the (-SEA/) deletion. Blood. 72:1589-1594. 1988
- Antithrombin-III-Hamilton: a gene with a point mutation (guanine to adenine) in codon 382 causing impaired serine protease reactivity. Blood. 72:1518-1523. 1988
- An immunoassay to detect human embryonic epsilon globin chains by a murine monoclonal antibody. Blood. 71:883-887. 1988
- Potential Application of a New Screening Test for α-Thalassemia-1 Carriers. Hemoglobin. 12:459-463. 1988
- Hemophilia B (Christmas disease) variants and carrier detection analyzed by DNA probes.. Journal of Clinical Investigation. 79:1204-1209. 1987
- Hemoglobin barts hydrops fetalis syndrome.. Haematologia. 20:125-130. 1987
- Properties of the earliest clonogenic hemopoietic precursors to appear in the developing murine yolk sac.. Proceedings of the National Academy of Sciences of the United States of America. 83:3851-3854. 1986
- Hemoglobin switching during murine embryonic development: evidence for two populations of embryonic erythropoietic progenitor cells. Blood. 67:716-721. 1986
- Embryonic ζ-Globin Chains in Adults: a Marker for α-Thalassemia-1 Haplotype Due to a >17.5-kb Deletion. New England Journal of Medicine. 314:76-79. 1986
- Human embryonic zeta-globin chains in adult patients with alpha-thalassemias.. Proceedings of the National Academy of Sciences of the United States of America. 81:6188-6191. 1984
- Adult hemoglobins are synthesized in murine fetal hepatic erythropoietic cells. Blood. 62:1280-1288. 1983
- Anemia associated with rheumatoid disease. Arthritis and Rheumatism. 26:28-34. 1983
- Abnormal erythroid progenitor cells in human preleukemia. Blood. 60:362-367. 1982
- Effect of modulators of erythropoiesis on the hemoglobinization of human erythroid cell cultures. Blood. 60:346-351. 1982
- Adult hemoglobins are synthesized in erythroid colonies in vitro derived from murine circulating hemopoietic progenitor cells during embryonic development.. Proceedings of the National Academy of Sciences of the United States of America. 79:2952-2956. 1982
- A molecular defect in two families with hemolytic poikilocytic anemia: reduction of high affinity membrane binding sites for ankyrin.. Journal of Clinical Investigation. 68:1566-1576. 1981
- Proportion of fetal hemoglobin synthesis decreases during erythroid cell maturation.. Proceedings of the National Academy of Sciences of the United States of America. 77:2757-2761. 1980
- Unequal α and β Globin mRNA in Reticulocytes of Normal and Mutant f/f Fetal Mice. British Journal of Haematology. 44:431-439. 1980
- Fetal erythropoiesis and hemoglobin ontogeny in tail-short (Ts/+) mutant mice. Blood. 54:673-683. 1979
- Hemoglobin ontogeny during normal mouse fetal development.. Proceedings of the National Academy of Sciences of the United States of America. 76:2853-2857. 1979
- Fetal erythropoiesis in steel mutant mice. III. Defect in differentiation from BFU-E to CFU-E during early development. Blood. 51:539-547. 1978
- Alterations in erythrocyte membrane material properties: a marker of the membrane abnormality in human and chicken muscular dystrophy.. Progress in Clinical and Biological Research. 20:189-203. 1978
- Hemoglobin synthesis in siderocytes of flexed-tailed mutant (f/f) fetal mice. Blood. 50:165-177. 1977
- Steel (Sl) mutation in mice: Identification of mutant embryos early in development. Developmental Biology. 49:300-303. 1976
- Foetal Erythropoiesis in Steel Mutant Mice. British Journal of Haematology. 29:553-565. 1975
- Fetal erythropoiesis in steel mutant mice. Developmental Biology. 40:256-269. 1974
- ERYTHROPOIETIN EFFECTS ON FETAL MOUSE ERYTHROID CELLS. Journal of Cell Biology. 51:585-595. 1971
- AN ULTRASTRUCTURAL STUDY OF EARLY MORPHOGENETIC EVENTS DURING THE ESTABLISHMENT OF FETAL HEPATIC ERYTHROPOIESIS. Journal of Cell Biology. 40:343-365. 1969
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Clinical phenotypes of three children with sickle cell disease caused by