John S. Waye

Hamilton, ON, Canada

Last Updated: 09/26/2026

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Found 41 publications

Hb F-SickKids (HBG2: C.308A > G): A Novel γ-Globin Variant Associated with Transient Neonatal Cyanosis.

Hb F-SickKids (HBG2: C.308A > G): A Novel γ-Globin Variant Associated with Transient Neonatal Cyanosis.

Journal: Hemoglobin
Published: June 10, 2026

Hemoglobinopathy diagnostics: the HELIOS Action survey.

Hemoglobinopathy diagnostics: the HELIOS Action survey.

Journal: Blood advances
Published: May 01, 2026

Novel δβ Fusion Gene in Individuals of Bhutanese and Nepalese Origin.

Novel δβ Fusion Gene in Individuals of Bhutanese and Nepalese Origin.

Journal: International journal of laboratory hematology
Published: March 04, 2026

Choosing wisely-directed HFE testing improves diagnostic yield and test utilization in hereditary hemochromatosis.

Choosing wisely-directed HFE testing improves diagnostic yield and test utilization in hereditary hemochromatosis.

Journal: Clinical biochemistry
Published: March 03, 2026

Newborn Screening for β-Thalassemia Identifies a Complex Genotype Involving a Novel β-Globin Gene Mutation (HBB:c.336dup).

Newborn Screening for β-Thalassemia Identifies a Complex Genotype Involving a Novel β-Globin Gene Mutation (HBB:c.336dup).

Journal: Hemoglobin
Published: April 02, 2024

β0-Thalassemia Caused by a Novel Nonsense Mutation [HBB:c.199A > T].

β0-Thalassemia Caused by a Novel Nonsense Mutation [HBB:c.199A > T].

Journal: Hemoglobin
Published: March 01, 2024

Splice Acceptor Mutation [HBB:c.93-2A > T] in a Patient with Hb S/β0-Thalassemia.

Splice Acceptor Mutation [HBB:c.93-2A > T] in a Patient with Hb S/β0-Thalassemia.

Journal: Hemoglobin
Published: February 15, 2024

Consensus statement for the perinatal management of patients with α thalassemia major.

Consensus statement for the perinatal management of patients with α thalassemia major.

Journal: Blood advances
Published: August 10, 2021

Adapting the ACMG/AMP variant classification framework: A perspective from the ClinGen Hemoglobinopathy Variant Curation Expert Panel.

Adapting the ACMG/AMP variant classification framework: A perspective from the ClinGen Hemoglobinopathy Variant Curation Expert Panel.

Journal: Human mutation
Published: May 31, 2021

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

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

Journal: British journal of haematology
Published: July 28, 2020

Novel High Oxygen Affinity Hemoglobin Variant in a Patient with Polycythemia: Hb Kennisis [β85(F1)Phe→Leu (TTT>TTG); HBB: c.258T>G].

Novel High Oxygen Affinity Hemoglobin Variant in a Patient with Polycythemia: Hb Kennisis [β85(F1)Phe→Leu (TTT>TTG); HBB: c.258T>G].

Journal: Hemoglobin
Published: March 11, 2020

An evaluation of genetic causes and environmental risks for bilateral optic atrophy.

An evaluation of genetic causes and environmental risks for bilateral optic atrophy.

Journal: PloS one
Published: September 19, 2019
Showing 1-12 of 41

Last Updated: 09/26/2026