Publications by authors named "John Waye"

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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

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

Hemoglobin· January 2024

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Adapting the ACMG/AMP variant classification framework: A perspective from the ClinGen Hemoglobinopathy Variant Curation Expert Panel.
Petros Kountouris, Coralea Stephanou, Carsten W Lederer, Joanne Traeger-Synodinos, Celeste Bento, John S Waye

Hum Mutat· August 2022

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Consensus statement for the perinatal management of patients with α thalassemia major.
Tippi C MacKenzie, Ali Amid, Michael Angastiniotis, Craig Butler, Sandra Gilbert, John S Waye

Blood Adv· December 2021

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Outcomes of haemoglobin Bart's hydrops fetalis following intrauterine transfusion in Ontario, Canada.
Hui Jue Zhang, Ali Amid, Laura A Janzen, Catherine I Segbefia, Shiyi Chen, John S Waye

Arch Dis Child Fetal Neonatal Ed· January 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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An evaluation of genetic causes and environmental risks for bilateral optic atrophy.
Andrew T Chen, Lauren Brady, Dennis E Bulman, Arun N E Sundaram, Amadeo R Rodriguez, John S Waye

PLoS One· March 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, John S Waye

Hemoglobin· January 2020

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A Novel Human β-Globin Gene Variant [Hb London-Ontario, : c.332T>G] is Associated with Transfusion-Dependent Anemia in a Patient with a Hemoglobin Electrophoresis Pattern Consistent with β-Thalassemia Trait.
Marc N Bienz, Cyrus Hsia, John S Waye, Margo Bode, Ziad Solh

Hemoglobin· March 2019

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Hepatoblastoma in a Child With Early-onset Cirrhosis.
Julie Bennett, Melanie Kirby-Allen, Vicky Ng, John S Waye, Catherine T Chung

J Pediatr Hematol Oncol· January 2019

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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

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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Data sharing as a national quality improvement program: reporting on BRCA1 and BRCA2 variant-interpretation comparisons through the Canadian Open Genetics Repository (COGR).
Matthew S Lebo, Kathleen-Rose Zakoor, Kathy Chun, Marsha D Speevak, John S Waye

Genet Med· March 2018

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The duplication mutation of Quebec platelet disorder dysregulates PLAU, but not C10orf55, selectively increasing production of normal PLAU transcripts by megakaryocytes but not granulocytes.
Catherine P M Hayward, Minggao Liang, Subia Tasneem, Asim Soomro, John S Waye

PLoS One· September 2017

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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 evaluation of a hemochromatosis next-generation sequencing gene panel.
Matthew B Lanktree, Bekim Sadikovic, John S Waye, Alexander Levstik, Bruce B Lanktree

Eur J Haematol· March 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, John S Waye

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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Examining the clinical use of hemochromatosis genetic testing.
Matthew B Lanktree, Bruce B Lanktree, Guillaume Paré, John S Waye, Bekim Sadikovic

Can J Gastroenterol Hepatol· February 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, John S Waye

Haematologica· May 2015

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Targeted gene sequencing identifies variants in the protein C and endothelial protein C receptor genes in patients with unprovoked venous thromboembolism.
Cynthia Wu, Dhruva J Dwivedi, Laura Pepler, Zakhar Lysov, John Waye

Arterioscler Thromb Vasc Biol· November 2013

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