Publications by authors named "Barry Eng"

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Splice Acceptor Mutation [:c.93-2A > T] in a Patient with Hb S/β-Thalassemia.
John S Waye, Meredith Hanna, Lisa Nakamura, Lynda Walker, Barry Eng

Hemoglobin· March 2024

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Newborn Screening for β-Thalassemia Identifies a Complex Genotype Involving a Novel β-Globin Gene Mutation (:c.336dup).
John S Waye, Meredith Hanna, Betty-Ann Hohenadel, Lisa Nakamura, Lynda Walker, Barry Eng

Hemoglobin· March 2024

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β-Thalassemia Caused by a Novel Nonsense Mutation [c.199A > T].
John S Waye, Meredith Hanna, Betty-Ann Hohenadel, Lisa Nakamura, Lynda Walker, Barry Eng

Hemoglobin· January 2024

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Multisite verification of the accuracy of a multi-gene next generation sequencing panel for detection of mutations and copy number alterations in solid tumours.
John Bartlett, Yutaka Amemiya, Heleen Arts, Jane Bayani, Barry Eng

PLoS One· November 2021

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Microcytosis in patients with haemoglobin C trait: is α-thalassaemia trait to blame?
Stéphanie Forté, Barry Eng, Madeleine Verhovsek, Denis Soulières, John S Waye

Br J Haematol· December 2020

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ATM whole gene deletion in an Italian family with hereditary pancreatic cancer: Challenges to cancer risk prediction associated with an 11q22.3 microdeletion.
Heleen H Arts, Lorrie Lynch, Daria Grafodatskaya, Barry Eng, Lesley Malloy

Cancer Genet· January 2020

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Novel High Oxygen Affinity Hemoglobin Variant in a Patient with Polycythemia: Hb Kennisis [β85(F1)Phe→Leu (TT>TT); : c.258T>G].
Ibrahim Al Nabhani, John C Aneke, Madeleine Verhovsek, Barry Eng, Kevin H M Kuo

Hemoglobin· January 2020

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Characterization of Two Novel Deletions Involving the 5' Region of the β-Globin Gene.
John S Waye, Meredith Hanna, Betty-Ann Hohenadel, Lisa Nakamura, Lynda Walker, Barry Eng

Hemoglobin· August 2018

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Multiplex Allele-Specific PCR for Simultaneous Detection of H63D and C282Y HFE Mutations in Hereditary Hemochromatosis.
Heleen H Arts, Barry Eng, John S Waye

J Appl Lab Med· July 2018

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α-Thalassemia Due to a 90.7 kb Deletion (- -).
John S Waye, Barry Eng, Meredith Hanna, Betty-Ann Hohenadel, Lisa Nakamura

Hemoglobin· May 2017

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Clinical Next-Generation Sequencing Pipeline Outperforms a Combined Approach Using Sanger Sequencing and Multiplex Ligation-Dependent Probe Amplification in Targeted Gene Panel Analysis.
Laila C Schenkel, Jennifer Kerkhof, Alan Stuart, Jack Reilly, Barry Eng

J Mol Diagn· September 2016

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Novel Mutation of the Translation Initiation Codon of the α1-Globin Gene (ATG>AAG or HBA1:c.2T>A).
John S Waye, Barry Eng, Meredith Hanna, Betty-Ann Hohenadel, Lisa Nakamura

Hemoglobin· September 2016

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Sudanese (δβ)0-Thalassemia: Identification and Characterization of a Novel 9.6 kb Deletion.
John S Waye, Barry Eng, Tiffany Got, Meredith Hanna, Betty-Ann Hohenadel

Hemoglobin· June 2016

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α(+)-Thalassemia Due to a Frameshift Mutation of the α2-Globin Gene [codons 55/56 (+T) or HBA2: c.168dup].
John S Waye, Barry Eng, Meredith Hanna, Betty-Ann Hohenadel, Lisa M Nakamura

Hemoglobin· March 2016

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Non-thalassemic phenotype associated with the -83 (G > A) mutation of the β-globin gene promoter (HBB: c.-133G > A).
John S Waye, Barry Eng, Meredith Hanna, Betty-Ann Hohenadel, Lisa N Nakamura

Hemoglobin· July 2015

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Hb S/β+-thalassemia due to Hb sickle and a novel deletion of DNase I hypersensitive sites HS3 and HS4 of the β locus control region.
Ali Amid, Melina Cheong, Barry Eng, Meredith Hanna, Betty-Ann Hohenadel

Haematologica· May 2015

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Mild β(+)-thalassemia associated with two linked sequence variants: IVS-II-839 (T>C) and IVS-II-844 (C>A).
John S Waye, Barry Eng, Laurie Hellens, Betty-Ann Hohenadel, Lisa M Nakamura

Hemoglobin· January 2014

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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, Barry Eng, Laurie Hellens, Betty-Ann Hohenadel, Lisa M Nakamura

Hemoglobin· September 2013

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α(+)-Thalassemia trait caused by a frameshift mutation in exon 2 of the α2-globin gene [HBA2 c.244delT].
John S Waye, Lynda Walker, Barry Eng

Hemoglobin· December 2012

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β+-Thalassemia trait due to a novel mutation in the β-globin gene promoter: -26 (A>C) [HBB c.-76A>C].
John S Waye, Lisa M Nakamura-Garrett, Barry Eng, Emmanuel Kanavakis, Joanne Traeger-Synodinos

Hemoglobin· June 2011

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Characterization of three novel delta chain hemoglobin variants and two delta-thalassemia alleles.
Hannes Frischknecht, Heinz Troxler, Fabrizio Dutly, Lynda Walker, Betty-Ann Hohenadel, Barry Eng

Hemoglobin· October 2010

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Molecular characterization of a novel 55.1 kb (G)gamma((A)gammadeltabeta)(0)-thalassemia deletion in two Canadian families.
Indu Voruganti, Barry Eng, John S Waye

Hemoglobin· March 2010

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alpha-Thalassemia caused by two novel splice mutations of the alpha2-globin gene: IVS-I-1 (G>A and G>T).
John S Waye, Barry Eng, Fabrizio Dutly, Hannes Frischknecht

Hemoglobin· March 2010

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Three new beta-thalassemia mutations with varying degrees of severity.
Hannes Frischknecht, Fabrizio Dutly, Lynda Walker, Lisa M Nakamura-Garrett, Barry Eng

Hemoglobin· February 2010

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Characterisation of the British alpha 0-thalassaemia deletion: evidence of a founder effect in Newfoundland, Canada.
Barry Eng, Benjamin Greenlay, John S Waye

Br J Haematol· October 2009

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