Publications by authors named "John S Waye"

66Publications

Microcytosis in patients with haemoglobin C trait: is α-thalassaemia trait to blame?

Br J Haematol 2020 Sep 18. Epub 2020 Sep 18.

Hamilton Regional Laboratory Medicine Program, Hamilton Health Sciences, Hamilton, Ontario, Canada.

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September 2020

Outcomes of haemoglobin Bart's hydrops fetalis following intrauterine transfusion in Ontario, Canada.

Arch Dis Child Fetal Neonatal Ed 2021 Jan 2;106(1):51-56. Epub 2020 Jul 2.

Department of Paediatric Haematology/Oncology, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.

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January 2021

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.

Hemoglobin 2019 Mar 27;43(2):129-131. Epub 2019 Jun 27.

d Department of Pathology & Laboratory Medicine (PaLM), Schulich School of Medicine & Dentistry , Western University , London , Ontario , Canada.

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March 2019

Characterization of Two Novel Deletions Involving the 5' Region of the β-Globin Gene.

Hemoglobin 2017 Jul - Nov;41(4-6):239-242. Epub 2017 Nov 28.

a Hamilton Regional Laboratory Medicine Program , Hamilton Health Sciences , Hamilton , ON , Canada.

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August 2018

α-Thalassemia Due to a 90.7 kb Deletion (- -).

Hemoglobin 2017 May 13;41(3):218-219. Epub 2017 Sep 13.

a Hamilton Regional Laboratory Medicine Program , Hamilton Health Sciences , Hamilton , Ontario , Canada.

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May 2017

Novel Mutation of the Translation Initiation Codon of the α1-Globin Gene (ATG>AAG or HBA1:c.2T>A).

Hemoglobin 2016 Sep;40(5):369-370

a Hamilton Regional Laboratory Medicine Program , Hamilton Health Sciences , Hamilton , Ontario , Canada.

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September 2016

Clinical Next-Generation Sequencing Pipeline Outperforms a Combined Approach Using Sanger Sequencing and Multiplex Ligation-Dependent Probe Amplification in Targeted Gene Panel Analysis.

J Mol Diagn 2016 09 2;18(5):657-667. Epub 2016 Jul 2.

Department of Pathology and Laboratory Medicine, Western University, London, Ontario, Canada; Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, Children's Health Research Institute, London, Ontario, Canada. Electronic address:

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September 2016

Sudanese (δβ)0-Thalassemia: Identification and Characterization of a Novel 9.6 kb Deletion.

Hemoglobin 2015 8;39(5):368-70. Epub 2015 Jul 8.

a Hamilton Regional Laboratory Medicine Program, Hamilton Health Sciences , Hamilton , Ontario , Canada.

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June 2016

α(+)-Thalassemia Due to a Frameshift Mutation of the α2-Globin Gene [codons 55/56 (+T) or HBA2: c.168dup].

Hemoglobin 2015 21;39(3):209-10. Epub 2015 Apr 21.

Hamilton Regional Laboratory Medicine Program, Hamilton Health Sciences , Hamilton, Ontario , Canada .

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March 2016

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.

Haematologica 2015 May 14;100(5):e166-8. Epub 2015 Feb 14.

Hamilton Regional Laboratory Medicine Program, Hamilton Health Sciences, Hamilton, Ontario, Canada Department of Pathology and Molecular Medicine, McMaster University, Hamilton, Ontario, Canada

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May 2015

Non-thalassemic phenotype associated with the -83 (G > A) mutation of the β-globin gene promoter (HBB: c.-133G > A).

Hemoglobin 2014 ;38(6):447-8

Hamilton Regional Laboratory Medicine Program, Hamilton Health Sciences , Hamilton, Ontario , Canada .

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July 2015

Mild β(+)-thalassemia associated with two linked sequence variants: IVS-II-839 (T>C) and IVS-II-844 (C>A).

Hemoglobin 2013 8;37(4):378-86. Epub 2013 May 8.

Hamilton Regional Laboratory Medicine Program, Hamilton Health Sciences, Hamilton, Ontario, Canada.

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January 2014

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 11;37(2):201-4. Epub 2013 Feb 11.

Hamilton Regional Laboratory Medicine Program, Hamilton Health Sciences, Hamilton, Ontario, Canada.

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September 2013