Author

Qianyi Shen

Victor Chang Cardiac Research Institute

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Genetic & Genomic Medicine· 4

Signature Assays, Organisms & Methods

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Organism:human· 4 Approach:experimental assay· 3 Research Focus:variant effect prediction· 3 Assay:electrophysiology· 2 Research Focus:differential expression· 1 Assay:electronic health records· 1 Approach:statistical model· 1

Frequent Co-Authors

Chai-Ann NgiD· 4 shared Jamie I. VandenbergiD· 4 shared Andrew Michael GlazeriD· 2 shared Björn C. KnollmanniD· 2 shared Brett M. KronckeiD· 2 shared Chek-Ying Tan· 2 shared Dan M. RodeniD· 2 shared Frederick P. RothiD· 2 shared

Activity by Year

2024-2026 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 39 mutual co-author links

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4 shared papersGenetic & Genomic Medicine

Chai-Ann NgORCID

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4 papers

Recent·Most cited

Functional analysis enables reclassification of SCN1A missense variants of uncertain significance in epilepsy

Keerthi Pilli, Talia J Allan, Mark F Bennett, Rebekah V Harris, Amy L Schneider, QianYi Shen, Joanne G Ma, Michael S Hildebrand, Elizabeth E Palmer, Alfred L George, Samuel F Berkovic, Jamie I Vandenberg, Ingrid E Scheffer, Chai-Ann Ng

This paper uses automated patch-clamp assays to reclassify SCN1A missense variants, changing classifications for 50% of tested variants.

medRxiv · Nov 9, 2026 · PreprintGenetic & Genomic Medicine

A benign control-calibrated multiparametric functional assay supports CACNA1A variant assessment

Chek-Ying Tan, Neven Maksemous, Joanne G. Ma, Sangavi Sivagnanasundram, Qianyi Shen, Shrey Sharma, Himanshu Goel, Manny Jacobs, Zornitza Stark, Kavitha Kothur, Lyn Robyn Griffiths, Jamie I. Vandenberg, Chai‐Ann Ng

This paper develops a calibrated functional assay to assess CACNA1A variants, showing it can accurately classify pathogenic and benign variants with high specificity and sensitivity.

medRxiv · Oct 14, 2026 · PreprintGenetic & Genomic Medicine

Mapping the Functional Landscape of KCNQ1 to Define Ion Channel Mechanisms and Arrhythmia Risk

M. Lorena Harvey, Ellen M Osborn, Megan Cummins Lancaster, Joseh J. Smith, Qianyi Shen, Temidayo Abe, Ruoyi Cai, Ayesha Muhammad, Rose Kannankeril, Tao Yang, Maria E. Calandranis, Daniel J. Blackwell, Richard E Dolder, Jessa L. Aldridge, Matthew R. Fleming, , Andrew Michael Glazer

The paper maps the functional landscape of KCNQ1 variants to identify pathogenic and benign variants, revealing their impact on arrhythmia risk and ion channel mechanisms.

medRxiv · Dec 16, 2025 · PreprintGenetic & Genomic Medicine

Prognostic Value of Multiplexed Assays of Variant Effect and Automated Patch-clamping for KCNH2-LQTS Risk Stratification

Matthew J. O’Neill, Chai‐Ann Ng, Takanori Aizawa, Luca Sala, Sahej Bains, Annika Winbo, Rizwan Ullah, Qianyi Shen, Chek-Ying Tan, Krystian A. Kozek, Loren R. Vanags, Devyn Mitchell, Alex Shen, Yuko Wada, Asami Kashiwa, , Brett M. Kroncke

This paper evaluates how functional variant data and penetrance estimates improve risk stratification for LQTS in KCNH2 missense variant carriers.

Circulation · Sep 24, 2024Peer-reviewedGenetic & Genomic Medicine