John Waye

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Teaching Activities
Medical Genetics - HTHSCI 3U03, Instructor 2022
Medical Genetics - HTHSCI 3U03, Instructor 2022
Medical Genetics - HTHSCI 3U03, Instructor 2021

Research Interests

Papers共 115 篇Author StatisticsCo-AuthorSimilar Experts

By YearBy Citation主题筛选期刊级别筛选合作者筛选合作机构筛选

⁰-Thalassemia Caused by a Novel Nonsense Mutation [HBB:c.199A > T]

John S. Waye,Meredith Hanna,Betty-Ann Hohenadel,Lisa Nakamura,Lynda Walker,Barry Eng,Landry E. Nfonsam

HEMOGLOBIN（2024）

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

John S. Waye,Meredith Hanna,Betty-Ann Hohenadel,Lisa Nakamura,Lynda Walker,Barry Eng,Landry E. Nfonsam

Hemoglobin（2024）

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

John S. Waye,Meredith Hanna,Lisa Nakamura,Lynda Walker,Barry Eng,Landry E. Nfonsam

HEMOGLOBIN（2024）

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

John S Waye,Meredith Hanna,Betty-Ann Hohenadel,Lisa Nakamura,Lynda Walker,Barry Eng,Landry E Nfonsam

Hemoglobinno. 1 (2024): 69-70

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Splice Acceptor Mutation [ HBB :C.93-2A > T] in a Patient with Hb S/β 0 -Thalassemia

John S. Waye,Meredith Hanna,Lisa Nakamura,Lynda Walker,Barry Eng,Landry E. Nfonsam

Hemoglobinno. 2 (2024): 116-117

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

John S Waye,Meredith Hanna,Lisa Nakamura,Lynda Walker,Barry Eng,Landry E Nfonsam

Hemoglobinno. 2 (2024): 116-117

Cited0Views0WOSBibtex

Β 0 -Thalassemia Caused by a Novel Nonsense Mutation [ HBB: C.199a > T]

John S. Waye,Meredith Hanna,Betty-Ann Hohenadel,Lisa Nakamura,Lynda Walker,Barry Eng,Landry E. Nfonsam

Hemoglobinno. 1 (2024): 69-70

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P135: THE CLINGEN HEMOGLOBINOPATHY VARIANT CURATION EXPERT PANEL

C Coralea Stephanou,P Petros Kountouris,C Carsten W Lederer,C Celeste Bento, C Cornelis L Hartveld,J Jan Traeger-Synodinos,J John S Waye,Z Zhiyu Peng,I Irene Fylaktou,H Hashim Halim-Fikri,T Tamara T. Koopmann, L Landry Nfonsam,J Jun Sun, F Franck Nzengu-Lukusa,M Michael Angastiniotis,C Catherine Badens, B Bertha Ibarra Cortes, J Johan T. den Dunnen,J Jacques Elion,S Suthat Fucharoen,K Kyriaki Michailidou,T Thessalia Papasavva,A Antonio Piga,R Raj Ramesar,S Swee Lay Thein,L Léon Tshilolo,Z Zilfalil Bin Alwi,M Marina Kleanthous

HemaSphere (2022): 34-35

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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,Cornelis L. Harteveld,Eirini Fylaktou,Tamara T. Koopmann,Hashim Halim-Fikri,Kyriaki Michailidou,Landry E. Nfonsam,John S. Waye,Bin A. Zilfalil,Marina Kleanthous

Human Mutation（2021）

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Papers共 115 篇Author StatisticsCo-AuthorSimilar Experts