selected scholarly activity
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conferences
- COMPARISON OF NEXT GENERATION SEQUENCING VERSUS SINGLE ANALYTE TESTS FOR SOMATIC MUTATION DETECTION IN ACUTE MYELOID LEUKEMIA, MYELOPROLIFERATIVE NEOPLASM AND SOLID TUMORS. International Journal of Laboratory Hematology. 72-72. 2017
- 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
- 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
- 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
- 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
- DNA diagnosis of thalassemia from ancient Italian skeletons.. American Journal of Physical Anthropology. 283-283. 1999
- Broad spectrum of beta-thalassemia mutations in Alexandria, Egypt.. Blood. 2818-2818. 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
- 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
- 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
- HEMOGLOBIN S-BETA-DEGREES-THALASSEMIA - THE 1.4 KB DELETION IS ASSOCIATED WITH A RELATIVELY MILD PHENOTYPE. Clinical Research. A973-A973. 1990
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journal articles
- Multisite verification of the accuracy of a multi-gene next generation sequencing panel for detection of mutations and copy number alterations in solid tumours. PLoS ONE. 16:e0258188-e0258188. 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
- ATM whole gene deletion in an Italian family with hereditary pancreatic cancer: Challenges to cancer risk prediction associated with an 11q22.3 microdeletion. Cancer genetics. 240:1-4. 2020
- 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
- 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
- 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
- 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. Hematology Journal. 100:e166-e168. 2015
- Krüppel‐like factor 1: hematologic phenotypes associated with KLF1 gene mutations. International Journal of Laboratory Hematology. 37:78-84. 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
- 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
- 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
- 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
- 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
- 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
- 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
- Atypical clinical course in juvenile metachromatic leukodystrophy involving novel arylsulfatase A gene mutations. Developmental Medicine and Child Neurology. 48:383-387. 2006
- Three New α-Thalassemia Point Mutations Ascertained Through Newborn Screening. Hemoglobin. 30:149-153. 2006
- 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
- 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
- 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
- Hb Castilla [β32(B14)Leu → Arg] Caused by a De Novo Mutation. Hemoglobin. 27:253-256. 2003
- Hypersensitive PCR, Ancient Human mtDNA, and Contamination. Human Biology. 75:355-364. 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
- 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
- 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
- DHCR7 genotypes of cousins with Smith-Lemli-Opitz syndrome. American Journal of Medical Genetics, Part A. 100:162-163. 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
- 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
- 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
- Improved DNA extraction from ancient bones using silica-based spin columns. American Journal of Physical Anthropology. 105:539-543. 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
- 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
- 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
- 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
- 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
- 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
- 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 0-thalassemia due to a 532-basepair deletion of the 5' beta-globin gene region.. Blood. 77:1100-1103. 1991
- Antithrombin III‐Amiens: A new family with an Arg47 → cys inherited variant of antithrombin iii with impaired heparin cofactor activity. American Journal of Hematology. 36:25-29. 1991
- Erratum. Mitochondrial DNA Part A: DNA Mapping, Sequencing, and Analysis. 1:427-427. 1991
- Incorporation of 7-deaza dGTP during the amplification step in the polymerase chain reaction procedure improves subsequent DNA sequencing. Mitochondrial DNA Part A: DNA Mapping, Sequencing, and Analysis. 1:137-140. 1990
- Camptothecin-resistant mutants of Chinese hamster ovary cells containing a resistant form of topoisomerase I.. Cancer Research. 48:6404-6410. 1988