John S. Waye - Publications, H-index & Citations

John S. Waye

mcmaster university

42H指数

205论文数

8.3K被引数

收录论文 32

发表时间

Choosing wisely-directed HFE testing improves diagnostic yield and test utilization in hereditary hemochromatosis 明智地选择HFE基因检测可提高遗传性血色病的诊断收益和检测利用率

Clinical Biochemistry

IF2.1

2026-05-29

PREAI

Landry E. Nfonsam; Betty-Ann Hohenadel; Menaka Pai; John S. Waye

Hemoglobinopathy diagnostics: the HELIOS Action survey 血红蛋白病诊断：HELIOS行动调查

Blood Advances

IF7.1

2026-05-03

OAAI

John S. Waye; Landry E. Nfonsam

Novel δβ Fusion Gene in Individuals of Bhutanese and Nepalese Origin 源自不丹和尼泊尔个体的新型δβ融合基因

International Journal of Laboratory Hematology

IF2.3

2026-01-01

PREAI

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

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

BLOOD ADVANCES

IF7.1

2021-12-28

OAAI

MacKenzie, Tippi C.; Amid, Ali; Angastiniotis, Michael; Butler, Craig; Gilbert, Sandra; Keller, Roberta L.; Kharbanda, Sandhya; Gonzalez, Juan; Kirby-Allen, Melanie; Koenig, Barbara A.; Kyono, Wade; Lal, Ashutosh; Lianoglou, Billie R.; Norton, Mary E.; Ogasawara, Keith K.; Panchalee, Tachjaree; Rosner, Mara; Schwab, Marisa; Thompson, Alexis; Waye, John S.; Vichinsky, Elliott

Adapting the ACMG/AMP variant classification framework: A perspective from the ClinGen Hemoglobinopathy Variant Curation Expert Panel 适应ACMG/AMP变体分类框架: ClinGen血红蛋白病变体治疗专家小组的观点

HUMAN MUTATION

IF3.7

2021-09-24

OAAI

Kountouris, Petros; Stephanou, Coralea; Lederer, Carsten W.; Traeger-Synodinos, Joanne; Bento, Celeste; Harteveld, Cornelis L.; Fylaktou, Eirini; Koopmann, Tamara T.; Halim-Fikri, Hashim; Michailidou, Kyriaki; Nfonsam, Landry E.; Waye, John S.; Zilfalil, Bin A.; Kleanthous, Marina

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

ARCHIVES OF DISEASE IN CHILDHOOD-FETAL AND NEONATAL EDITION

IF3.6

2020-07-02

PREAI

Zhang, Hui Jue; Amid, Ali; Janzen, Laura A.; Segbefia, Catherine, I; Chen, Shiyi; Athale, Uma; Charpentier, Karen; Merelles-Pulcini, Manuela; Seaward, Gareth; Kelly, Edmond N.; Odame, Isaac; Waye, John S.; Ryan, Greg; Kirby-Allen, Melanie

Data sharing as a national quality improvement program: reporting on BRCA1 and BRCA2 variant-interpretation comparisons through the Canadian Open Genetics Repository (COGR)

GENETICS IN MEDICINE

IF6.2

2018-03-01

OAAI

Lebo, Matthew S.; Zakoor, Kathleen-Rose; Chun, Kathy; Speevak, Marsha D.; Waye, John S.; McCready, Elizabeth; Parboosingh, Jillian S.; Lamont, Ryan E.; Feilotter, Harriet; Bosdet, Ian; Tucker, Tracy; Young, Sean; Karsan, Aly; Charames, George S.; Agatep, Ronald; Spriggs, Elizabeth L.; Chisholm, Caitlin; Vasli, Nasim; Daoud, Hussein; Jarinova, Olga; Tomaszewski, Robert; Hume, Stacey; Taylor, Sherryl; Akbari, Mohammad R.; Lerner-Ellis, Jordan

Molecular phenotype and bleeding risks of an inherited platelet disorder in a family with a RUNX1 frameshift mutation

HAEMOPHILIA

IF3

2017-02-08

PREAI

Badin, M. S.; Iyer, J. K.; Chong, M.; Graf, L.; Rivard, G. E.; Waye, J. . S.; Paterson, A. D.; Pare, G.; Hayward, C. P. M.

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

JOURNAL OF MOLECULAR DIAGNOSTICS

IF3.4

2016-09-01

OAAI

Schenkel, Laila C.; Kerkhof, Jennifer; Stuart, Alan; Reilly, Jack; Eng, Barry; Woodside, Crystal; Levstik, Alexander; Howlett, Christopher J.; Rupar, Anthony C.; Knoll, Joan H. M.; Ainsworth, Peter; Waye, John S.; Sadikovic, Bekim

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

IF7.9

2015-02-14

OAAI

Amid, Ali; Cheong, Melina; Eng, Barry; Hanna, Meredith; Hohenadel, Betty-Ann; Nakamura, Lisa M.; Walker, Lynda; Odame, Isaac; Kirby-Allen, Melanie; Waye, John S.

Targeted Gene Sequencing Identifies Variants in the Protein C and Endothelial Protein C Receptor Genes in Patients With Unprovoked Venous Thromboembolism 靶向基因测序鉴定无缘无故静脉血栓栓塞患者蛋白C和内皮蛋白C受体基因的变异

ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY

IF7.4

2013-11-01

OAAI

Wu, Cynthia; Dwivedi, Dhruva J.; Pepler, Laura; Lysov, Zakhar; Waye, John; Julian, Jim; Desch, Karl; Ginsburg, David; Weitz, Jeffrey I.; Kearon, Clive; Liaw, Patricia C.

Systematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approach

NATURE GENETICS

IF31.8

2011-03-20

126

OAAI

Giardine, Belinda; Borg, Joseph; Higgs, Douglas R.; Peterson, Kenneth R.; Philipsen, Sjaak; Maglott, Donna; Singleton, Belinda K.; Anstee, David J.; Basak, A. Nazli; Clark, Barnaby; Costa, Flavia C.; Faustino, Paula; Fedosyuk, Halyna; Felice, Alex E.; Francina, Alain; Galanello, Renzo; Gallivan, Monica V. E.; Georgitsi, Marianthi; Gibbons, Richard J.; Giordano, Piero C.; Harteveld, Cornelis L.; Hoyer, James D.; Jarvis, Martin; Joly, Philippe; Kanavakis, Emmanuel; Kollia, Panagoula; Menzel, Stephan; Miller, Webb; Moradkhani, Kamran; Old, John; Papachatzopoulou, Adamantia; Papadakis, Manoussos N.; Papadopoulos, Petros; Pavlovic, Sonja; Perseu, Lucia; Radmilovic, Milena; Riemer, Cathy; Satta, Stefania; Schrijver, Iris; Stojiljkovic, Maja; Thein, Swee Lay; Traeger-Synodinos, Jan; Tully, Ray; Wada, Takahito; Waye, John S.; Wiemann, Claudia; Zukic, Branka; Chui, David H. K.; Wajcman, Henri; Hardison, Ross C.; Patrinos, George P.

Prenatal diagnosis of hemoglobinopathies in Ontario, Canada

COOLEY'S ANEMIA EIGHTH SYMPOSIUM

IF0

2009-07-08

OAAI

Basran, RK; Patterson, M; Walker, L; Nakamura, LM; Eng, B; Chui, DHK; Waye, JS

Novel 27.9 kb α0-thalassemia deletion in a Filipino woman

AMERICAN JOURNAL OF HEMATOLOGY

IF9.9

2009-02-04

OAAI

Waye, John S.; Greenlay, Benjamin; Eng, Barry