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Barry Eng

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John S Waye; Barry Eng
Diagnostic testing for α-globin gene disorders in a heterogeneous North American population.
John S Waye; Barry Eng; Laurie Hellens; Betty-Ann Hohenadel; Lisa M Nakamura; Lynda Walker
Normal Hb A2 β-thalassemia trait: frameshift mutation (HBB: c.187_251dup) in cis with the Hb A2' δ-globin gene missense mutation (HBD: c.49G>C).
John S Waye; Lynda Walker; Barry Eng
α(+)-Thalassemia trait caused by a frameshift mutation in exon 2 of the α2-globin gene [HBA2 c.244delT].

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All Publications

2013: John S Waye; Barry Eng
Diagnostic testing for α-globin gene disorders in a heterogeneous North American population.
International journal of laboratory hematology 2013;35(3):306-13.
2013: John S Waye; Barry Eng; Laurie Hellens; Betty-Ann Hohenadel; Lisa M Nakamura; Lynda Walker
Normal Hb A2 β-thalassemia trait: frameshift mutation (HBB: c.187_251dup) in cis with the Hb A2' δ-globin gene missense mutation (HBD: c.49G>C).
Hemoglobin 2013;37(2):201-4.
2012: John S Waye; Lynda Walker; Barry Eng
α(+)-Thalassemia trait caused by a frameshift mutation in exon 2 of the α2-globin gene [HBA2 c.244delT].
Hemoglobin 2012;36(2):205-7.
2011: John S Waye; Lisa M Nakamura-Garrett; Barry Eng; Emmanuel Kanavakis; Joanne Traeger-Synodinos
β+-Thalassemia trait due to a novel mutation in the β-globin gene promoter: -26 (A>C) [HBB c.-76A>C].
Hemoglobin 2011;35(1):84-6.
2009: Barry Eng; Benjamin Greenlay; John S Waye
Characterisation of the British alpha 0-thalassaemia deletion: evidence of a founder effect in Newfoundland, Canada.
British journal of haematology 2009;147(1):150-2.
2009: John S Waye; Benjamin Greenlay; Barry Eng
Novel 27.9 kb alpha(0)-thalassemia deletion in a Filipino woman.
American journal of hematology 2009;84(3):197-8.
2009: John S Waye; Barry Eng; Fabrizio Dutly; HANNES FRISCHKNECHT
alpha-Thalassemia caused by two novel splice mutations of the alpha2-globin gene: IVS-I-1 (G>A and G>T).
Hemoglobin 2009;33(6):519-22.
2009: Barry Eng; Lynda Walker; John S Waye
Alpha+-thalassemia trait caused by a nonsense mutation in the alpha2-globin gene: codon 54 (CAG>TAG).
Hemoglobin 2009;33(1):72-4.
2009: John S Waye; Lynda Walker; Lisa M Nakamura; Barry Eng; Andrew McFarlane
Hb North York [beta 117(G19)His-->Asp]: a new beta chain hemoglobin variant.
Hemoglobin 2009;33(1):51-3.
2008: Barry Eng; John S Waye
Frameshift mutation in the alpha2-globin gene causing alpha+ -thalassemia: codon 49 (-GC).
Hemoglobin 2008;32(3):315-7.
2007: John S Waye; Barry Eng; Murray A Potter; Malgorzata J M Nowaczyk; Deborah McFadden; Sylvie Langlois
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 2007;143A(15):1799-801.
2007: John S Waye; Lynda Walker; Lianna G Kyriakopoulou; Murray A Potter; Barry Eng
Characterisation of a novel 49.3 kb Ggamma(Agamma delta beta)(0) -thalassaemia deletion in seven families of Asian descent.
British journal of haematology 2007;138(1):125-6.
2007: John S Waye; Barry Eng; Malgorzata J M Nowaczyk
Prenatal diagnosis of Smith-Lemli-Opitz syndrome (SLOS) by DHCR7 mutation analysis.
Prenatal diagnosis 2007;27(7):638-40.
2007: John S Waye; Barry Eng
Gene symbol: ARSA.
Human genetics 2007;120(6):913.
2007: John S Waye; Barry Eng
Gene symbol: ARSA.
Human genetics 2007;120(6):909.
2007: Barry Eng; Lynda Walker; Lisa M Nakamura; Carolyn Hoppe; Mahin Azimi; Helen Lee; John S Waye
Three new beta-globin gene promoter mutations identified through newborn screening.
Hemoglobin 2007;31(2):129-34.
2007: Lynda Walker; Barry Eng; Andrew McFarlane; John S Waye
High oxygen affinity hemoglobin variant in a Canadian family: Hb Bunbury [beta94(FG1)Asp-->Asn, GAC-->AAC].
Hemoglobin 2007;31(1):101-3.
2006: Barry Eng; Margie Patterson; Lynda Walker; Carolyn Hoppe; Mahin Azimi; Helen Lee; Piero C Giordano; John S Waye
Three new alpha-thalassemia point mutations ascertained through newborn screening.
Hemoglobin 2006;30(2):149-53.
2005: John S Waye; Patrycja A Krakowiak; Christopher A Wassif; Allison L Sterner; Barry Eng; Lisa M Nakamura; Malgorzata J M Nowaczyk; Forbes D Porter
Identification of nine novel DHCR7 missense mutations in patients with Smith-Lemli-Opitz syndrome (SLOS).
Human mutation 2005;26(1):59.
2005: Barry Eng; Robert Walsh; Lynda Walker; Margie Patterson; John S Waye
Characterization of a rare single alpha-globin gene deletion in a Chinese woman with Hb H disease.
Hemoglobin 2005;29(4):297-9.
2005: Margie Patterson; Lynda Walker; Barry Eng; John S Waye
High Hb A2 beta-thalassemia due to a 468 bp deletion in a patient with Hb S/beta-thalassemia.
Hemoglobin 2005;29(4):293-5.
2005: Lynda Walker; Margie Patterson; Barry Eng; Andrew McFarlane; John S Waye
Identification of a new delta chain hemoglobin variant in a beta-thalassemia carrier: Hb A2-mumc [delta13(a10)Ala-->Asp].
Hemoglobin 2005;29(4):285-7.
2005: Raveen K Basran; Margie Patterson; Lynda Walker; Lisa M Nakamura; Barry Eng; David H K Chui; John S Waye
Prenatal diagnosis of hemoglobinopathies in Ontario, Canada.
Annals of the New York Academy of Sciences 2005;1054():507-10.
2004: Barry Eng; Tim Heshka; Mark A Tarnopolsky; Lisa M Nakamura; Malgorzata J M Nowaczyk; John S Waye
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 2004;128A(1):95-7.
2004: Malgorzata J M Nowaczyk; Diana Martin-Garcia; Angel Aquino-Perna; Miguel Rodriguez-Vazquez; Donna McCaughey; Barry Eng; Lisa M Nakamura; John S Waye
Founder effect for the T93M DHCR7 mutation in Smith-Lemli-Opitz syndrome.
American journal of medical genetics. Part A 2004;125A(2):173-6.
2003: Lynda Walker; Andrew McFarlane; Margie Patterson; Barry Eng; John S Waye
Hb Castilla [beta32(B14)Leu --> Arg] caused by a de novo mutation.
Hemoglobin 2003;27(4):253-6.
2003: John S Waye; Margie Patterson; Lynda Walker; Barry Eng; Lisa M Nakamura; John D Lafferty; Siu-Li Yong; John K Wu; David H K Chui; Sui-Li Yong
Beta-thalassemia in association with a new delta-chain hemoglobin variant [delta116(g18)Arg-->Leu]: implications for carrier screening and prenatal diagnosis.
American journal of hematology 2003;74(3):179-81.
2003: Malgorzata J M Nowaczyk; Barry Eng; John S Waye; Sandra A Farrell; Wilma L Sirkin
Fetus with renal agenesis and Smith-Lemli-Opitz syndrome.
American journal of medical genetics. Part A 2003;120A(2):305-7.
2003: Brooke S Wright; Ngozi A Nwokoro; Christopher A Wassif; Forbes D Porter; John S Waye; Barry Eng; Malgorzata J M Nowaczyk
Carrier frequency of the RSH/Smith-Lemli-Opitz IVS8-1G>C mutation in African Americans.
American journal of medical genetics. Part A 2003;120A(1):139-41.
2002: John S Waye; Lisa M Nakamura; Barry Eng; L Hunnisett; D Chitayat; T Costa; Malgorzata J M Nowaczyk
Smith-Lemli-Opitz syndrome: carrier frequency and spectrum of DHCR7 mutations in Canada.
Journal of medical genetics 2002;39(6):E31.
2002: Chitra Prasad; Sandra L Marles; Asuri N Prasad; Sarah Nikkel; Sally Longstaffe; Deborah Peabody; Barry Eng; Sarah Wright; John S Waye; Malgorzata J M Nowaczyk
Smith-Lemli-Opitz syndrome: new mutation with a mild phenotype.
American journal of medical genetics 2002;108(1):64-8.
2001: John S Waye; Barry Eng; M Patterson; Manuel Carcao; L Chang; Nancy F Olivieri; D H Chui
Identification of two new alpha-thalassemia mutations in exon 2 of the alpha1-globin gene.
Hemoglobin 2001;25(4):391-6.
2001: John S Waye; Barry Eng; Margie Patterson; Lynda Walker; Manuel Carcao; Nancy F Olivieri; David H K Chui
Hemoglobin H (Hb H) disease in Canada: molecular diagnosis and review of 116 cases.
American journal of hematology 2001;68(1):11-5.
2001: Malgorzata J M Nowaczyk; D M Garcia; Barry Eng; J S Waye
Rapid molecular prenatal diagnosis of Smith-Lemli-Opitz syndrome.
American journal of medical genetics 2001;102(4):387-8.
2001: Malgorzata J M Nowaczyk; Lisa M Nakamura; Barry Eng; Forbes D Porter; John S Waye
Frequency and ethnic distribution of the common DHCR7 mutation in Smith-Lemli-Opitz syndrome.
American journal of medical genetics 2001;102(4):383-6.
2001: Malgorzata J M Nowaczyk; Tim Heshka; Barry Eng; A J Feigenbaum; John S Waye
DHCR7 genotypes of cousins with Smith-Lemli-Opitz syndrome.
American journal of medical genetics 2001;100(2):162-3.
2001: John S Waye; Barry Eng; Margie Patterson; M D Reis; D Macdonald; David H K Chui
Novel beta-thalassemia mutation in a beta-thalassemia intermedia patient.
Hemoglobin 2001;25(1):103-5.
2001: Barry Eng; Margie Patterson; Lynda Walker; David H K Chui; John S Waye
Detection of severe nondeletional alpha-thalassemia mutations using a single-tube multiplex ARMS assay.
Genetic testing 2001;5(4):327-9.
2000: John S Waye; Barry Eng; David H K Chui; P J Powers; John D Lafferty
Second report of Hb Toulon [alpha77(EF6)Pro-->His] in a Canadian family of Italian descent.
Hemoglobin 2000;24(4):359-60.
2000: Barry Eng; Margie Patterson; S Borys; David H K Chui; John S Waye
PCR-based diagnosis of the Filipino (--(FIL)) and Thai (--(THAI)) alpha-thalassemia-1 deletions.
American journal of hematology 2000;63(1):54-6.
1999: Manuel Carcao; L Chang; A Poon; Nancy F Olivieri; John S Waye; Barry Eng; M Patterson; D H Chui
Compound heterozygosity for Hb S and Hb G-Copenhagen.
Hemoglobin 1999;23(4):379-81.
1999: John S Waye; S Borys; Barry Eng; Margie Patterson; David H K Chui; O M Badr El-Din; M K Aref; Z Afify
Spectrum of beta-thalassemia mutations in Egypt.
Hemoglobin 1999;23(3):255-61.
1998: John S Waye; Barry Eng; Margie Patterson; David H K Chui; B J Fernandes
Novel beta-thalassemia mutation in patients of Jewish descent: [beta 30(B12)Arg-->Gly or IVS-I(-2)(A-->G)].
Hemoglobin 1998;22(1):83-5.
1997: John S Waye; Barry Eng; Margie Patterson; Ronald D Barr; David H K Chui
De novo mutation of the beta-globin gene initiation codon (ATG-->AAG) in a Northern European boy.
American journal of hematology 1997;56(3):179-82.
1997: John S Waye; Barry Eng; Margie Patterson; David H K Chui; Eric Nisbet-Brown; Nancy F Olivieri
Novel mutation of the alpha 2-globin gene initiation codon (ATG-->A-G) in a Vietnamese girl with Hb H disease.
Hemoglobin 1997;21(5):469-72.
1997: John S Waye; Barry Eng; Margie Patterson; David H K Chui; B J Fernandes
Novel beta 0-thalassemia mutation in a Canadian woman of British descent (codons 72/73, -AGTGA, +T).
Hemoglobin 1997;21(4):385-7.
1995: John S Waye; Barry Eng; Margie Patterson; P Wasi; David H K Chui; W H Francombe; GD Sher; Nancy F Olivieri
Severity of beta-thalassemia due to genotypes involving the IVS-I-6 (T-->C) mutation.
American journal of hematology 1995;50(1):15-9.
1995: John S Waye; Barry Eng; W H Francombe; David H K Chui
Novel seventeen basepair deletion in exon 3 of the beta-globin gene.
Human mutation 1995;6(3):252-3.
1994: John S Waye; Barry Eng; Margie Patterson; David H K Chui; L S Chang; B Cogionis; A O Poon; Nancy F Olivieri
Hb E/Hb LeporeHollandia in a family from Bangladesh.
American journal of hematology 1994;47(4):262-5.
1994: John S Waye; Barry Eng; J A Hunt; David H K Chui
Filipino beta-thalassemia due to a large deletion: identification of the deletion endpoints and polymerase chain reaction (PCR)-based diagnosis.
Human genetics 1994;94(5):530-2.
1994: John S Waye; Margie Patterson; Barry Eng
De novo beta-globin gene mutation [beta 63(E7)His-->Tyr] giving rise to Hb M disease in a Newfoundlander.
Hemoglobin 1994;18(6):441-3.
1994: John S Waye; Barry Eng; M B Coleman; Martin H Steinberg; BLANCHE ALTER
Delta beta-thalassemia in an African-American: identification of the deletion endpoints and PCR-based diagnosis.
Hemoglobin 1994;18(6):389-99.
1994: John S Waye; Margie Patterson; Barry Eng; M F Scully
Beta-thalassemia intermedia in a Lebanese child due to homozygosity for the -88 (C-->T) mutation.
Hemoglobin 1994;18(6):383-8.
1994: John S Waye; Barry Eng; Nancy F Olivieri; David H K Chui
Identification of a novel beta O-thalassaemia mutation in a Greek family and subsequent prenatal diagnosis.
Prenatal diagnosis 1994;14(10):929-32.
1994: John S Waye; Margie Patterson; Barry Eng; David H K Chui; GD Sher; Nancy F Olivieri
DNA diagnosis of Hb S and Hb Caribbean (alpha 2 beta 2 91 Leu-->Arg) in a Jamaican family.
American journal of hematology 1994;47(1):33-5.
1994: H Ni; John S Waye; William P Sheffield; Barry Eng; Morris A Blajchman
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 1994;46(2):107-11.
1994: H Ni; John S Waye; Richard C Austin; D Calverley; Barry Eng; William P Sheffield; Morris A Blajchman
Characterization of a highly polymorphic trinucleotide short tandem repeat within the human antithrombin gene.
Thrombosis research 1994;74(3):303-7.
1994: John S Waye; Barry Eng; H Y Ni; Morris A Blajchman; G Carmody
Trinucleotide repeat polymorphism within the human antithrombin gene (AT3): allele frequency data for three population groups.
Molecular and cellular probes 1994;8(2):149-54.
1994: John S Waye; Barry Eng
Allelic stability of VNTR locus 3' alpha HVR: linkage disequilibrium with the common alpha-thalassaemia-1 deletion of South-East Asia (--SEA/).
Human heredity 1994;44(2):61-7.
1993: W Tang; H Y Luo; Barry Eng; John S Waye; David H K Chui
Immunocytological test to detect adult carriers of (--SEA/) deletional alpha-thalassaemia.
Lancet 1993;342(8880):1145-7.
1993: John S Waye; Barry Eng; S P Cai; Margie Patterson; J Smith; W Tang; David H K Chui
Carrier detection and prenatal diagnosis of hemoglobinopathies in Ontario.
Clinical and investigative medicine. Médecine clinique et experimentale 1993;16(5):358-71.
1993: W Tang; S P Cai; Barry Eng; M C Poon; John S Waye; N Illum; David H K Chui
Expression of embryonic zeta-globin and epsilon-globin chains in a 10-year-old girl with congenital anemia.
Blood 1993;81(6):1636-40.
1993: Barry Eng; David H K Chui; J Saunderson; Nancy F Olivieri; John S Waye
Identification of two novel beta zero-thalassemia mutations in a Filipino family: frameshift codon 67 (-TG) and a beta-globin gene deletion.
Human mutation 1993;2(5):375-9.
1992: John S Waye; S P Cai; Barry Eng; David H K Chui; W H Francombe
Clinical course and molecular characterization of a compound heterozygote for sickle hemoglobin and hemoglobin Kenya.
American journal of hematology 1992;41(4):289-91.
1992: W Tang; H Y Luo; M Albitar; Margie Patterson; Barry Eng; John S Waye; S A Liebhaber; D R Higgs; David H K Chui
Human embryonic zeta-globin chain expression in deletional alpha-thalassemias.
Blood 1992;80(2):517-22.
1992: John S Waye; Barry Eng; David H K Chui
Identification of an extensive zeta-alpha globin gene deletion in a Chinese individual.
British journal of haematology 1992;80(3):378-80.
1992: S P Cai; Barry Eng; W H Francombe; Nancy F Olivieri; A G Kendall; John S Waye; David H K Chui
Two novel beta-thalassemia mutations in the 5' and 3' noncoding regions of the beta-globin gene.
Blood 1992;79(5):1342-6.
1991: S P Cai; Barry Eng; Y W Kan; David H K Chui
A rapid and simple electrophoretic method for the detection of mutations involving small insertion or deletion: application to beta-thalassemia.
Human genetics 1991;87(6):728-30.
1991: John S Waye; David H K Chui; Barry Eng; S P Cai; M B Coleman; J G Adams; Martin H Steinberg
Hb S/beta zero-thalassemia due to the approximately 1.4-kb deletion is associated with a relatively mild phenotype.
American journal of hematology 1991;38(2):108-12.
1991: John S Waye; S P Cai; Barry Eng; C Clark; J G Adams; David H K Chui; Martin H Steinberg
High hemoglobin A2 beta 0-thalassemia due to a 532-basepair deletion of the 5' beta-globin gene region.
Blood 1991;77(5):1100-3.
1991: B Roussel; J Dieval; J Delobel; F Fernandez-Rachubinski; Barry Eng; Richard A Rachubinski; Morris A Blajchman
Antithrombin III-Amiens: a new family with an Arg47----Cys inherited variant of antithrombin III with impaired heparin cofactor activity.
American journal of hematology 1991;36(1):25-9.
1990: F Fernandez-Rachubinski; Barry Eng; W W Murray; Morris A Blajchman; Richard A Rachubinski
Incorporation of 7-deaza dGTP during the amplification step in the polymerase chain reaction procedure improves subsequent DNA sequencing.
DNA sequence : the journal of DNA sequencing and mapping 1990;1(2):137-40.