selected scholarly activity
-
conferences
- Rewiring of Enhancer-Gene Interactions Drives PLAU Overexpression in the Pathogenesis of Quebec Platelet Disorder. Genetic Epidemiology. 649-650. 2016
- DUPLICATION OF THE PLAU LOCUS IN QUEBEC PLATELET DISORDER RESULTS IN A MEGAKARYOCYTE-SPECIFIC UP-REGULATION OF CANONICAL PLAU TRANSCRIPTS, WITH DYSREGULATION OF ADDITIONAL GENES IN MEGAKARYOCYTES. International Journal of Laboratory Hematology. 45-46. 2016
- Novel RUNX1 Mutation in a Family with an Uncharacterized Secretion Defect. Blood. 3458-3458. 2015
- Effect of Quebec platelet disorder on leukocyte urokinase plasminogen activator (uPA) levels. Journal of Thrombosis and Haemostasis. 239-240. 2015
- Compound Heterozygosity for Hb S and a Novel Deletion of Dnase I Hypersensitivity Sites HS3 and HS4 of beta-Globin Locus Control Region Results in Hb S/beta(+)-Thalassemia Phenotype. Blood. 2014
- Retrospective Evaluation of Patients Referred for Hemochromatosis Genetic Testing. Blood. 4035-4035. 2014
- Quebec Platelet Disorder Is Associated With Greater Than Expected Increases In Urokinase Plasminogen Activator In Granulocytes and Monocytes. Blood. 3573-3573. 2013
- DIAGNOSTIC TESTING FOR A-GLOBIN GENE DISORDERS IN A HETEROGENEOUS NORTH AMERICAN POPULATION. International Journal of Laboratory Hematology. 8-8. 2013
- Dysregulation of C10orf55 Expression in Megakaryocytic Cell Lineage From Quebec Platelet Disorder Individuals. Blood. 987-987. 2011
- Targeted gene sequencing of the protein C and EPCR genes in a large population of patients with unprovoked venous thromboembolism. Journal of Thrombosis and Haemostasis. 733-734. 2011
- Targeted Gene Sequencing to Identify Polymorphisms in the Protein C and EPCR Genes in Patients with Unprovoked Venous Thromboembolism.. Blood. 454-454. 2009
- Quebec Platelet Disorder Is Caused by a Cis-Acting Mutation near the Plasminogen Activator Gene (PLAU) That Increases PLAU Transcription by Megakaryocytes. Blood. 1164-1164. 2008
- A modified method for the assessment of the hemoglobin oxygen equilibrium curve on hemolysate using the Hemox-Analyzer. International Journal of Laboratory Hematology. 134-134. 2008
- Isolation and characterization of hemoglobins Portland I, Portland II and Gower I in infants with homozygous alpha(o)-thalassemia. International Journal of Laboratory Hematology. 44-44. 2008
- Population and genetic heterogeneity of beta-thalassaemia in Ontario, Canada. British Journal of Haematology. 112-112. 2008
- Evaluation of the CapillaryS 2 capillary electrophoresis system for hemoglobinopathy screening. International Journal of Laboratory Hematology. 9-9. 2007
- Evaluation of the CapillaryS 2 CE System for Hemoglobinopathy Investigations.. Blood. 3781-3781. 2006
- Incidence of Smith-Lemli-Opitz syndrome in Canada: results of a 36 month surveillance program.. Genetics in Medicine. 306-306. 2004
- Carrier frequency of the Smith-Lemli-Opitz IVS8-1GC mutation of the DHCR7 gene in African Americans.. American Journal of Human Genetics. 286-286. 2002
- Identification of twelve new arylsulfatase A gene mutations in metachromatic leukodystrophy (MILD) patients.. American Journal of Human Genetics. 428-428. 2002
- Molecular, biochemical and clinical aspects of Smith-Lemli-Opitz syndrome in Cuban patients.. American Journal of Human Genetics. 428-428. 2002
- Thiamine responsive megaloblastic anemia presenting as microcytic anaemia: an unusual case with novel mutations.. American Journal of Human Genetics. 427-427. 2002
- Molecular diagnosis of Smith-Lemli-Opitz syndrome (SLOS) in a fetus with renal agenesis.. American Journal of Human Genetics. 304-304. 2001
- Late onset metachromatic leukodystrophy clinically presenting as isolated peripheral neuropathy: Compound heterozygosity for the IVS2+1G -> A mutation and a newly identified missense mutation (Thr408Ile) in a Spanish family. Neurology. A323-A324. 2001
- 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
- Response to sodium phenylbutuyrate and hydroxyurea in thalassemia: Possible effect of marrow expansion on augmentation of fetal hemoglobin (HbF).. Blood. 561A-+. 2000
- Sickle cell disease in a four year old child with apparent HbS trait.. Blood. 20B-20B. 2000
- AmpliTaq Gold (TM) and ancient DNA samples.. American Journal of Physical Anthropology. 328-329. 2000
- Ancient DNA analysis of a 2,000 year old Italian cemetery population.. American Journal of Physical Anthropology. 270-270. 2000
- Alpha-thalassemia mutations detected by multiplex-PCR.. Blood. 196A-196A. 1999
- Screening for silent globin gene mutations in areas with high prevalence of thalassaemia.. Blood. 23B-23B. 1999
- DNA diagnosis of thalassemia from ancient Italian skeletons.. American Journal of Physical Anthropology. 283-283. 1999
- Normal development of an infant with homozygous a thalassemia.. Blood. 576-576. 1997
- Unusually severe presentation of sickle cell disease in patients with triplicated and quadruplicated alpha gene loci. Blood. 2821-2821. 1997
- Hematopoietic stem cell transplantation for metachromatic leukodystrophy prior to onset of clinical signs and symptoms. CORRECTION OF GENETIC DISEASES BY TRANSPLANTATION IV. 34-48. 1997
- A novel and de novo spontaneous point mutation (GLU270STOP) of the antithrombin (AT) gene results in a type I deficiency and congenital thrombophilia.. Blood. 680-680. 1996
- 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
- First report of long-term elimination of red cell transfusions in thalassemia major through augmentation of fetal hemoglobin with sodium phenylbutyrate (SPB) and hydroxyurea (HU).. Blood. 1227-1227. 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
- Population screening for the thalassemias and hemoglobinopathies in Hong Kong.. Blood. 2821-2821. 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 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
- TRINUCLEOTIDE REPEAT POLYMORPHISM IN THE ANTITHROMBIN-III GENE - ALLELE FREQUENCY DATA FOR 3 POPULATION GROUPS. American Journal of Human Genetics. 1647-1647. 1993
- A SIMPLE IMMUNOCYTOLOGICAL TEST FOR DETECTING ADULT CARRIERS OF THE (-SEA/) DELETIONAL ALPHA-THALASSEMIA. Clinical Research. A295-A295. 1993
- DOES TANDEMLY REPEATED DNA HAVE A BEGINNING AND AN END - MOLECULAR EVOLUTION OF ALPHA SATELLITE DNA. American Journal of Human Genetics. 464-464. 1991
- HEMOGLOBIN S-BETA-DEGREES-THALASSEMIA - THE 1.4 KB DELETION IS ASSOCIATED WITH A RELATIVELY MILD PHENOTYPE. Clinical Research. A973-A973. 1990
- CLONING AND RECOMBINANT-DNA TECHNOLOGIES FOR THE DEVELOPMENT OF HYBRIDIZATION PROBES. PROCEEDINGS OF THE INTERNATIONAL SYMPOSIUM ON THE FORENSIC ASPECTS OF DNA ANALYSIS. 47-56. 1989
- DNA TYPING IN THE ROYAL CANADIAN MOUNTED POLICE. PROCEEDINGS OF THE INTERNATIONAL SYMPOSIUM ON THE FORENSIC ASPECTS OF DNA ANALYSIS. 137-146. 1989
- A LOW-COPY, CHROMOSOME-SPECIFIC ALPHA SATELLITE DOMAIN LOCATED IN THE PERICENTROMERIC REGION OF HUMAN CHROMOSOME-14. Cytogenetic and Genome Research. 713-713. 1987
- ALPHA-SATELLITE ON CHROMOSOME-7 - MOLECULAR-ORGANIZATION, DNA POLYMORPHISMS, AND CENTROMERIC LOCALIZATION. Cytogenetic and Genome Research. 712-713. 1987
- MOLECULAR AND GENETIC-CHARACTERIZATION OF CHROMOSOME-SPECIFIC SUBSETS OF HUMAN ALPHA-SATELLITE DNA. Cytogenetic and Genome Research. 712-712. 1987
- THE GENE FOR NF1 (VON RECKLINGHAUSEN NEUROFIBROMATOSIS) IS ON CHROMOSOME-17 NEAR THE CENTROMERE. Cytogenetic and Genome Research. 576-576. 1987
- CHROMOSOME-SPECIFIC HUMAN ALPHA SATELLITE DNA - ISOLATION AND CHARACTERIZATION OF POLYMORPHIC REPEATED DNA FAMILY FROM CHROMOSOME-17 (D17Z1). Cytogenetic and Genome Research. 778-779. 1985
-
journal articles
- Newborn Screening for β-Thalassemia Identifies a Complex Genotype Involving a Novel β-Globin Gene Mutation ( HBB :c.336dup). Hemoglobin. 48:113-115. 2024
- Splice Acceptor Mutation [ HBB :c.93-2A > T] in a Patient with Hb S/β 0 -Thalassemia. Hemoglobin. 48:116-117. 2024
- β 0 -Thalassemia Caused by a Novel Nonsense Mutation [ HBB: c.199A > T]. Hemoglobin. 48:69-70. 2024
- Adapting the ACMG/AMP variant classification framework: A perspective from the ClinGen Hemoglobinopathy Variant Curation Expert Panel. Human Mutation. 43:1089-1096. 2022
- Consensus statement for the perinatal management of patients with α thalassemia major. Blood Advances. 5:5636-5639. 2021
- Outcomes of haemoglobin Bart’s hydrops fetalis following intrauterine transfusion in Ontario, Canada. Archives of Disease in Childhood: Fetal and Neonatal Edition. 106:51-56. 2021
- Microcytosis in patients with haemoglobin C trait: is α‐thalassaemia trait to blame?. British Journal of Haematology. 191:e129-e131. 2020
- Novel High Oxygen Affinity Hemoglobin Variant in a Patient with Polycythemia: Hb Kennisis [β85(F1)Phe→Leu (TTT>TTG); HBB: c.258T>G]. Hemoglobin. 44:10-12. 2020
- A Novel Human β-Globin Gene Variant [Hb London-Ontario,HBB: c.332T>G] is Associated with Transfusion-Dependent Anemia in a Patient with a Hemoglobin Electrophoresis Pattern Consistent with β-Thalassemia Trait. Hemoglobin. 43:129-131. 2019
- An evaluation of genetic causes and environmental risks for bilateral optic atrophy. PLoS ONE. 14:e0225656-e0225656. 2019
- Hepatoblastoma in a Child With Early-onset Cirrhosis. Journal of Pediatric Hematology/Oncology. 41:e30-e33. 2019
- Multiplex Allele-Specific PCR for Simultaneous Detection of H63D and C282Y HFE Mutations in Hereditary Hemochromatosis. The journal of applied laboratory medicine. 3:10-17. 2018
- Data sharing as a national quality improvement program: reporting on BRCA1 and BRCA2 variant-interpretation comparisons through the Canadian Open Genetics Repository (COGR). Genetics in Medicine. 20:294-302. 2018
- Characterization of Two Novel Deletions Involving the 5′ Region of the β-Globin Gene. Hemoglobin. 41:239-242. 2017
- α0-Thalassemia Due to a 90.7 kb Deletion (– –NFLD). Hemoglobin. 41:218-219. 2017
-
Molecular phenotype and bleeding risks of an inherited platelet disorder in a family with a
RUNX 1 frameshift mutation. Haemophilia. 23:e204-e213. 2017 - Clinical evaluation of a hemochromatosis next‐generation sequencing gene panel. European Journal of Haematology. 98:228-234. 2017
- The duplication mutation of Quebec platelet disorder dysregulates PLAU, but not C10orf55, selectively increasing production of normal PLAU transcripts by megakaryocytes but not granulocytes. PLoS ONE. 12:e0173991-e0173991. 2017
- Novel Mutation of the Translation Initiation Codon of the α1-Globin Gene (ATG>AAG orHBA1:c.2T>A). Hemoglobin. 40:369-370. 2016
- Clinical Next-Generation Sequencing Pipeline Outperforms a Combined Approach Using Sanger Sequencing and Multiplex Ligation-Dependent Probe Amplification in Targeted Gene Panel Analysis. Journal of Molecular Diagnostics. 18:657-667. 2016
- Sudanese (δβ)0-Thalassemia: Identification and Characterization of a Novel 9.6 kb Deletion. Hemoglobin. 39:368-370. 2015
- Canadian Open Genetics Repository (COGR): a unified clinical genomics database as a community resource for standardising and sharing genetic interpretations. Journal of Medical Genetics. 52:438-445. 2015
- α+-Thalassemia Due to a Frameshift Mutation of theα2-Globin Gene [codons 55/56 (+T) orHBA2: c.168dup]. Hemoglobin. 39:209-210. 2015
- Hb S/ +-thalassemia due to Hb sickle and a novel deletion of DNase I hypersensitive sites HS3 and HS4 of the locus control region. Haematologica. 100:e166-e168. 2015
- Krüppel‐like factor 1: hematologic phenotypes associated with KLF1 gene mutations. International Journal of Laboratory Hematology. 37:78-84. 2015
- Examining the Clinical Use of Hemochromatosis Genetic Testing. Canadian Journal of Gastroenterology and Hepatology. 29:41-45. 2015
- Non-Thalassemic Phenotype Associated With the -83 (G > A) Mutation of theβ-Globin Gene Promoter (HBB: c.-133G > A). Hemoglobin. 38:447-448. 2014
- Targeted Gene Sequencing Identifies Variants in the Protein C and Endothelial Protein C Receptor Genes in Patients With Unprovoked Venous Thromboembolism. Arteriosclerosis, Thrombosis and Vascular Biology. 33:2674-2681. 2013
- Mild β+-Thalassemia Associated With Two Linked Sequence Variants: IVS-II-839 (T>C) and IVS-II-844 (C>A). Hemoglobin. 37:378-386. 2013
- Diagnostic testing for α‐globin gene disorders in a heterogeneous North American population. International Journal of Laboratory Hematology. 35:306-313. 2013
- Normal Hb A2β-Thalassemia Trait: Frameshift Mutation (HBB: c.187_251dup) inCiswith the Hb A2’δ-Globin Gene Missense Mutation (HBD: c.49G>C). Hemoglobin. 37:201-204. 2013
- α+-Thalassemia Trait Caused by a Frameshift Mutation in Exon 2 of the α2-Globin Gene [HBA2 c.244delT]. Hemoglobin. 36:205-207. 2012
- Pregnancy outcomes in women with elevated levels of fetal hemoglobin. Journal of Maternal-Fetal and Neonatal Medicine. 25:125-129. 2012
- Systematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approach. Nature Genetics. 43:295-301. 2011
- β+-Thalassemia Trait Due to a Novel Mutation in the β-Globin Gene Promoter: −26 (A>C) [HBB c.−76A>C]. Hemoglobin. 35:84-86. 2011
- Characterization of Three Novel δ Chain Hemoglobin Variants and Two δ-Thalassemia Alleles. Hemoglobin. 34:374-382. 2010
- Codon 24 (TAT>TAG) and Codon 32 (ATG>AGG) (Hb Rotterdam): Two Novel α2 Gene Mutations Associated with Mild α-Thalassemia Found in the Same Family After Newborn Screening. Hemoglobin. 34:354-365. 2010
- Persons with Quebec platelet disorder have a tandem duplication of PLAU, the urokinase plasminogen activator gene. Blood. 115:1264-1266. 2010
- Molecular Characterization of a Novel 55.1 kbGγ(Aγδβ)0-thalassemia Deletion in Two Canadian Families. Hemoglobin. 33:422-427. 2009
- α-Thalassemia Caused by Two Novel Splice Mutations of the α2-Globin Gene: IVS-I-1 (G>A and G>T). Hemoglobin. 33:519-522. 2009
- Characterisation of the British α0‐thalassaemia deletion: evidence of a founder effect in Newfoundland, Canada. British Journal of Haematology. 147:150-152. 2009
- Novel 27.9 kb α0‐thalassemia deletion in a Filipino woman. American Journal of Hematology. 84:197-198. 2009
- Quebec platelet disorder is linked to the urokinase plasminogen activator gene (PLAU) and increases expression of the linked allele in megakaryocytes. Blood. 113:1543-1546. 2009
- Hb North York [β117(G19)His→Asp]: A New β Chain Hemoglobin Variant. Hemoglobin. 33:51-53. 2009
- Three New β-Thalassemia Mutations with Varying Degrees of Severity. Hemoglobin. 33:220-225. 2009
- α+-Thalassemia Trait Caused by a Nonsense Mutation in the α2-Globin Gene: Codon 54 (CAG>TAG). Hemoglobin. 33:72-74. 2009
- Frameshift Mutation in the α2-Globin Gene Causing α+-Thalassemia: Codon 49 (−GC). Hemoglobin. 32:315-317. 2008
- THE Hb S/β+-Thalassemia Phenotype Demonstrates that the IVS-I (−2) (A>C) Mutation is a Mild β-Thalassemia Allele. Hemoglobin. 32:303-307. 2008
- Digging deeper into the limits of ancient DNA research on syphilis. Journal of Archaeological Science. 34:2091-2100. 2007
- De novo mutation of the DHCR7 gene in a fetus with severe Smith–Lemli–Opitz (or RSH) syndrome. American Journal of Medical Genetics, Part A. 143A:1799-1801. 2007
- Characterisation of a novel 49·3 kb Gγ(Aγδβ)0‐thalassaemia deletion in seven families of Asian descent. British Journal of Haematology. 138:125-126. 2007
- Prenatal diagnosis of Smith‐Lemli‐Opitz syndrome (SLOS) by DHCR7 mutation analysis. Prenatal Diagnosis. 27:638-640. 2007
- Hb Evora [ 2 35, Ser->Pro], a novel hemoglobin variant associated with an -thalassemia phenotype. Haematologica. 92:e68-e68. 2007
- Gene symbol: ARSA.. Human Genetics. 120:913. 2007
- Gene symbol: ARSA.. Human Genetics. 120:909. 2007
- High Oxygen Affinity Hemoglobin Variant in a Canadian Family: Hb Bunbury [β94(FG1)Asp→Asn,GAC→AAC]. Hemoglobin. 31:101-103. 2007
- Three New β-Globin Gene Promoter Mutations Identified Through Newborn Screening. Hemoglobin. 31:129-134. 2007
- DHCR7 mutation carrier rates and prevalence of the RSH/Smith‐Lemli‐Opitz syndrome: Where are the patients?. American Journal of Medical Genetics, Part A. 140A:2057-2062. 2006
- Atypical clinical course in juvenile metachromatic leukodystrophy involving novel arylsulfatase A gene mutations. Developmental Medicine and Child Neurology. 48:383-387. 2006
- In Memoriam. Hemoglobin. 30:1-2. 2006
- Three New α-Thalassemia Point Mutations Ascertained Through Newborn Screening. Hemoglobin. 30:149-153. 2006
- Changes in the Epidemiology of Thalassemia in North America: A New Minority Disease. Pediatrics. 116:e818-e825. 2005
- Prenatal Diagnosis of Hemoglobinopathies in Ontario, Canada. Annals of the New York Academy of Sciences. 1054:507-510. 2005
- Identification of nine novelDHCR7 missense mutations in patients with Smith-Lemli-Opitz syndrome (SLOS). Human Mutation. 26:59-59. 2005
- DHCR7 nonsense mutations and characterisation of mRNA nonsense mediated decay in Smith-Lemli-Opitz syndrome. Journal of Medical Genetics. 42:350-357. 2005
- Characterization of a Rare Single α-Globin Gene Deletion in a Chinese Woman with Hb H Disease. Hemoglobin. 29:297-299. 2005
- High Hb A2β-Thalassemia Due to a 468 bp Deletion in a Patient with Hb S/β-Thalassemia. Hemoglobin. 29:293-295. 2005
- Identification of a New δ Chain Hemoglobin Variant in a β-Thalassemia Carrier: Hb A2-MUMC [δ13(A10)Ala → Asp]. Hemoglobin. 29:285-287. 2005
- DHCR7 mutations and genotype–phenotype correlation in 37 Polish patients with Smith–Lemli–Opitz syndrome. Clinical Genetics. 66:517-524. 2004
- Incidence of Smith-Lemli-Opitz syndrome in Canada: Results of three-year population surveillance. Journal of Pediatrics. 145:530-535. 2004
- Infantile metachromatic leukodystrophy (MLD) in a compound heterozygote for the c.459 + 1G > A mutation and a complete deletion of the ARSA gene. American Journal of Medical Genetics, Part A. 128A:95-97. 2004
- Erratum. American Journal of Hematology. 76:99-99. 2004
- Founder effect for the T93MDHCR7mutation in Smith‐Lemli‐Opitz syndrome. American Journal of Medical Genetics, Part A. 125A:173-176. 2004
- Identification of nine novel arylsulfatase a (ARSA) gene mutations in patients with metachromatic leukodystrophy (MLD). Human Mutation. 22:418-419. 2003
- 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
- Fetus with renal agenesis and smith‐Lemli‐Opitz syndrome. American Journal of Medical Genetics, Part A. 120A:305-307. 2003
- Carrier frequency of the RSH/Smith‐Lemli‐Opitz IVS8‐1G>C mutation in African Americans. American Journal of Medical Genetics, Part A. 120A:139-141. 2003
- Determination of a kinship system using ancient DNA, mortuary practice, and historic records in an upper Canadian pioneer cemetery. International Journal of Osteoarchaeology. 13:232-246. 2003
- Good practice guidelines for laboratory investigation of hemoglobinopathies.. Laboratory Hematology. 9:237-245. 2003
- Hb Castilla [β32(B14)Leu → Arg] Caused by a De Novo Mutation. Hemoglobin. 27:253-256. 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
- Smith-Lemli-Opitz syndrome: carrier frequency and spectrum of DHCR7 mutations in Canada. Journal of Medical Genetics. 39:31e-31. 2002
- Smith‐Lemli‐Opitz syndrome: New mutation with a mild phenotype. American Journal of Medical Genetics, Part A. 108:64-68. 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
- DHCR7 and Smith-Lemli-Opitz syndrome.. Clinical and Investigative Medicine. 24:311-317. 2001
- 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
- Smith-Lemli-Opitz (RHS) syndrome: holoprosencephaly and homozygous IVS8-1G?C genotype. American Journal of Medical Genetics, Part A. 103:75-80. 2001
- Frequency and ethnic distribution of the commonDHCR7 mutation in Smith-Lemli-Opitz syndrome. American Journal of Medical Genetics, Part A. 102:383-386. 2001
- Hemoglobin H (Hb H) disease in Canada: Molecular diagnosis and review of 116 cases. American Journal of Hematology. 68:11-15. 2001
- Rapid molecular prenatal diagnosis of Smith-Lemli-Opitz syndrome. American Journal of Medical Genetics, Part A. 102:387-388. 2001
- Late‐onset metachromatic leukodystrophy clinically presenting as isolated peripheral neuropathy: Compound heterozygosity for the IVS2+1G→a mutation and a newly identified missense mutation (Thr408Ile) in a Spanish family. Annals of Neurology. 50:108-112. 2001
- Late‐onset metachromatic leukodystrophy clinically presenting as isolated peripheral neuropathy: Compound heterozygosity for the IVS2+1G→a mutation and a newly identified missense mutation (Thr408Ile) in a Spanish family. Annals of Neurology. 50:108-112. 2001
- The Smith–Lemli–Opitz syndrome: a novel metabolic way of understanding developmental biology, embryogenesis, and dysmorphology. Clinical Genetics. 59:375-386. 2001
- Universal Newborn Screening for Hb H Disease in California. Genetic Testing and Molecular Biomarkers. 5:93-100. 2001
- Cranial and hand skeleton in fragile X syndrome. American Journal of Medical Genetics, Part A. 100:156-161. 2001
- DHCR7 genotypes of cousins with Smith-Lemli-Opitz syndrome. American Journal of Medical Genetics, Part A. 100:162-163. 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
- 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
- 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
- A novel and de novo spontaneous point mutation (Glu271STOP) of the antithrombin gene results in a type I deficiency and thrombophilia. American Journal of Hematology. 60:126-129. 1999
- Compound Heterozygosity for Hb S and Hb G-Copenhagen. Hemoglobin. 23:379-381. 1999
- Parentage testing implications of male fertility after allogeneic bone marrow transplantation. Bone Marrow Transplantation. 23:187-189. 1999
- Spectrum of β-Thalassemia Mutations in Egypt. Hemoglobin. 23:255-261. 1999
- Elimination of Transfusions Through Induction of Fetal Hemoglobin Synthesis in Cooley's Anemiaa. Annals of the New York Academy of Sciences. 850:100-109. 1998
- Hemoglobin E/β Thalassemia: The Canadian Experience. Annals of the New York Academy of Sciences. 850:410-411. 1998
- Increase in Hemoglobin Concentration during Therapy with Hydroxyurea in Cooley's Anemia. Annals of the New York Academy of Sciences. 850:459-460. 1998
- Treatment of Two Infants with Cooley's Anemia with Sodium Phenylbutyrate. Annals of the New York Academy of Sciences. 850:452-454. 1998
- 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
- Hydrops Fetalis Caused by α-Thalassemia: An Emerging Health Care Problem. Blood. 91:2213-2222. 1998
- Improved DNA extraction from ancient bones using silica-based spin columns. American Journal of Physical Anthropology. 105:539-543. 1998
- De NovoDeletion of Yqin a Male who is Negative for DYZ1 Sequences. Journal of the Canadian Society of Forensic Science. 31:63-67. 1998
- DNA Evidence in the Christine Jessop Homicide Case. Journal of the Canadian Society of Forensic Science. 31:55-62. 1998
- Novel β-Thalassemia Mutation In Patients of Jewish Descent: [β30(B12)ARGGLY OR IVS-I (-2) (AG)]. Hemoglobin. 22:83-85. 1998
- Evolutionary origins of two tightly linked mutations in arylsulfatase-A pseudodeficiency. Human Genetics. 101:135-140. 1997
- De novo mutation of the β-globin gene initiation codon (ATG→AAG) in a Northern European. American Journal of Hematology. 56:179-182. 1997
- Treatment of thalassaemia major with phenylbutyrate and hydroxyurea. The Lancet. 350:491-492. 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
- Limb defects in homozygous α-thalassemia: Report of three cases. American Journal of Medical Genetics, Part A. 68:162-167. 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
- Removal of PCR Inhibitors using Silica-Based Spin Columns: Application to Ancient Bones. Journal of the Canadian Society of Forensic Science. 30:1-5. 1997
- Maternal Uniparental Isodisomy of Human Chromosome 14 Associated with a Paternal t(13q14q) and Precocious Puberty. European Journal of Human Genetics. 4:153-159. 1996
- The prenatal identification of fetal compatibility in neonatal alloimmune thrombocytopenia using amniotic fluid and variable number of tandem repeat (VNTR) analysis. British Journal of Haematology. 91:742-746. 1995
- Severity of β‐thalassemia due to genotypes involving the IVS‐I‐6 (T→C) mutation. American Journal of Hematology. 50:15-19. 1995
- Identifican of A New High Oxygen Affinity Hemoglobin Variant: Hb Aurora [β139(H17)Asn→Tyr]. Hemoglobin. 19:335-341. 1995
- Novel seventeen basepair deletion in exon 3 of the β-globin gene. Human Mutation. 6:252-253. 1995
- Dopamine D4 receptor variant, D4GLYCINE194, in Africans, but not in Caucasians: No association with Schizophrenia. American Journal of Medical Genetics, Part A. 54:384-390. 1994
- Hb E/Hb LeporeHollandia in a family from Bangladesh. American Journal of Hematology. 47:262-265. 1994
- Anomalous Migration of PCR Products Using Nondenaturing Polyacrylamide Gel Electrophoresis: The Amelogenin Sex-Typing System. Journal of Forensic Sciences. 39:1356-1359. 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
- Attitudes of high school students toward carrier screening and prenatal diagnosis of cystic fibrosis. Journal of Genetic Counseling. 3:141-155. 1994
- Genetic linkage studies in antithrombin‐deficient kindreds using a highly polymorphic trinucleotide short tandem repeat (str) within the human antithrombin gene. American Journal of Hematology. 46:107-111. 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
- Characterization of a highly polymorphic trinucleotide short tandem repeat within the human antithrombin gene. Thrombosis Research. 74:303-307. 1994
- Trinucleotide repeat polymorphism within the human antithrombin gene (AT3): allele frequency data for three population groups. Molecular and Cellular Probes. 8:149-154. 1994
- De novoβ-globin gene mutation [β63(E7)HIS→TYR] giving rise to Hb M disease in a newfoundlander. Hemoglobin. 18:441-443. 1994
- Allele frequency data for VNTR locus D17S79: Identification of an internalHaeIII polymorphism in the black population. Human Mutation. 3:248-253. 1994
- Allelic Stability of VNTR Locus 3’αHVR: Linkage Disequilibrium with the Common α-Thalassaemia-1-Deletion of South-East Asia (--SEA/). Human Heredity. 44:61-67. 1994
- Hb FM-Fort Ripley: Confirmation of autosormal dominant inheritance and diagnosis by PCR and direct nucleotide sequencing. Human Mutation. 3:239-242. 1994
- β-Thalassemia intermedia in a lebanese child due to homozygosity for the -88 (C→T) Mutation. Hemoglobin. 18:383-388. 1994
- δβ-Thalassemia in an African-American: Identification of the deletion endpoints and PCR-Based diagnosis. Hemoglobin. 18:389-399. 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
- Nonrandom localization of recombination events in human alpha satellite repeat unit variants: implications for higher-order structural characteristics within centromeric heterochromatin.. Molecular and Cellular Biology. 13:6520-6529. 1993
- B‐cell lymphoma of recipient origin 9 years after allogeneic bone marrow transplantation for T‐cell acute lymphoblastic leukaemia. British Journal of Haematology. 85:99-102. 1993
- Forensic Identity Testing Using Highly Polymorphic DNA Markers: Current Status and Emerging Technologies. Transfusion Medicine Reviews. 7:193-205. 1993
- Expression of embryonic zeta-globin and epsilon-globin chains in a 10- year-old girl with congenital anemia. Blood. 81:1636-1640. 1993
- Complications in the genotypic molecular diagnosis of pseudo arylsulfatase A deficiency. American Journal of Medical Genetics, Part A. 45:631-637. 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
- Prenatal Paternity Testing Following Sexual Assault: A Novel Application of Forensic DNA Typing. Journal of the Canadian Society of Forensic Science. 26:81-85. 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
- Diagnosis of arylsulfatase A deficiency. American Journal of Medical Genetics, Part A. 43:976-982. 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
- 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
- Sensitive and Specific Quantification of Human Genomic Deoxyribonucleic Acid (DNA) in Forensic Science Specimens: Casework Examples. Journal of Forensic Sciences. 36:1198-1203. 1991
- Fixed-bin analysis for statistical evaluation of continuous distributions of allelic data from VNTR loci, for use in forensic comparisons.. American Journal of Human Genetics. 48:841-855. 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
- Hae III—A Suitable Restriction Endonuclease for Restriction Fragment Length Polymorphism Analysis of Biological Evidence Samples. Journal of Forensic Sciences. 35:530-536. 1990
- A case of 46,XX,r(X) (p1q1) diagnosed by in situ hybridization. Clinical Genetics. 37:216-220. 1990
- Identification of complex DNA polymorphisms based on variable number of tandem repeats (VNTR) and restriction site polymorphism. Human Genetics. 84:223-227. 1990
- Agarose gel electrophoresis of linear genomic DNA in the presence of ethidium bromide: band shifting and implications for forensic identity testing.. Applied and theoretical electrophoresis : the official journal of the International Electrophoresis Society. 1:193-196. 1990
- Letters to the Editor. Journal of Forensic Sciences. 35:5-13. 1990
- Discussion of "Repetitive Deoxyribonucleic Acid (DNA) and Human Genome Variation--A Concise Review Relevant to Forensic Biology".. Journal of Forensic Sciences. 34:1296-1301. 1989
- REPETITIVE DEOXYRIBONUCLEIC-ACID (DNA) AND HUMAN GENOME VARIATION - A CONCISE REVIEW RELEVANT TO FORENSIC BIOLOGY - DISCUSSION. Journal of Forensic Sciences. 34:1296-1299. 1989
- Concerted evolution of alpha satellite DNA: Evidence for species specificity and a general lack of sequence conservation among alphoid sequences of higher primates. Chromosoma. 98:273-279. 1989
- A simple and sensitive method for quantifying human genomic DNA in forensic specimen extracts.. BioTechniques. 7:852-855. 1989
- Human beta satellite DNA: genomic organization and sequence definition of a class of highly repetitive tandem DNA.. Proceedings of the National Academy of Sciences of the United States of America. 86:6250-6254. 1989
- Chromosome specificity of satellite DNAs: short- and long-range organization of a diverged dimeric subset of human alpha satellite from chromosome 3. Chromosoma. 97:475-480. 1989
- Chromosome-specific alpha satellite DNA: Isolation and mapping of a polymorphic alphoid repeat from human chromosome 10. Genomics. 3:1-7. 1988
- Organization and genomic distribution of ?82H? alpha satellite DNA. Human Genetics. 78:27-32. 1988
- Two PstI RFLPs in the PCCB gene on the long arm of chromosome 3. Nucleic Acids Research (NAR). 16:2362-2362. 1988
- Molecular organization and haplotype analysis of centromeric DNA from human chromosome 17: Implications for linkage in neurofibromatosis. Genomics. 1:368-373. 1987
- Detection of novel centromeric polymorphisms associated with alpha satellite DNA from human chromosome 11. Human Genetics. 77:151-156. 1987
- Chromosome-specific alpha satellite DNA from human chromosome 1: Hierarchical structure and genomic organization of a polymorphic domain spanning several hundred kilobase pairs of centromeric DNA. Genomics. 1:43-51. 1987
- Chromosome-specific subsets of human alpha satellite DNA: Analysis of sequence divergence within and between chromosomal subsets and evidence for an ancestral pentameric repeat. Journal of Molecular Evolution. 25:207-214. 1987
- Organization and evolution of alpha satellite DNA from human chromosome 11. Chromosoma. 95:182-188. 1987
- Gene for von Recklinghausen Neurofibromatosis Is in the Pericentromeric Region of Chromosome 17. Science. 236:1100-1102. 1987
- Genomic organization of alpha satellite DNA on human chromosome 7: evidence for two distinct alphoid domains on a single chromosome.. Molecular and Cellular Biology. 7:349-356. 1987
- Hierarchical order in chromosome-specific human alpha satellite DNA. Trends in Genetics. 3:192-198. 1987
- Nucleotide sequence heterogeneity of alpha satellite repetitive DNA: a survey of alphoid sequences from different human chromosomes. Nucleic Acids Research (NAR). 15:7549-7569. 1987
- Structure, organization, and sequence of alpha satellite DNA from human chromosome 17: evidence for evolution by unequal crossing-over and an ancestral pentamer repeat shared with the human X chromosome.. Molecular and Cellular Biology. 6:3156-3165. 1986
- Detection of restriction fragment length polymorphisms at the centromeres of human chromosomes by using chromosome-specific alpha satellite DNA probes: implications for development of centromere-based genetic linkage maps.. Proceedings of the National Academy of Sciences of the United States of America. 83:5611-5615. 1986
- Molecular analysis of a deletion polymorphism in alpha satellite of human chromosome 17: evidence for homologous unequal crossing-over and subsequent fixation. Nucleic Acids Research (NAR). 14:6915-6927. 1986
- Chromosome-specific alpha satellite DNA: nucleotide sequence analysis of the 2.0 kilobasepair repeat from the human X chromosome. Nucleic Acids Research (NAR). 13:2731-2743. 1985
- Isolation and expression in Escherichia coli of a cDNA clone encoding human β-glucuronidase. Gene. 34:105-110. 1985
- Nonrandom insertion of Tn5 into cloned human adeno virus DNA. Gene. 40:31-38. 1985