John S. Waye

机构：Hamilton Regional Laboratory Medicine Program, Hamilton Health Sciences, McMaster University · ORCID：0000-0002-7521-3356

发表论文 225 篇 · 总被引 8521 次 · h-index 43

代表论文

• Systematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approach (2011 · Nature Genetics · 被引 162)
• Persons with Quebec platelet disorder have a tandem duplication of PLAU, the urokinase plasminogen activator gene (2009 · Blood · 被引 107)
• Clinical Next-Generation Sequencing Pipeline Outperforms a Combined Approach Using Sanger Sequencing and Multiplex Ligation-Dependent Probe Amplification in Targeted Gene Panel Analysis (2016 · Journal of Molecular Diagnostics · 被引 61)
• Krüppel‐like factor 1: hematologic phenotypes associated with KLF1 gene mutations (2015 · International Journal of Laboratory Hematology · 被引 47)
• Adapting the ACMG/AMP variant classification framework: A perspective from the ClinGen Hemoglobinopathy Variant Curation Expert Panel (2021 · Human Mutation · 被引 41)
• αIIbβ3 variants defined by next-generation sequencing: Predicting variants likely to cause Glanzmann thrombasthenia (2015 · Proceedings of the National Academy of Sciences · 被引 40)