Dr Andrew Y Shuen, MD, PhD, FRCP is an expert in Genetics at Hospital for Sick Children (Canada). Andrew Y Shuen has authored 26 publications, the most recent in 2026. SLR score: 50 (community average: 125). How the SLR is computed.

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Dr Andrew Y Shuen, MD, PhD, FRCP Hospital for Sick Children Canada
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Genetics

Subspecialties:

Full career – Last 3 years

Main Topics

Publications and Clinical Studies

Publications – Clinical Studies

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Organizations

Career arc: 2009 - 2026

Source: PubMed

Hospital for Sick Children

Publications Synthesis

Sources: PubMed, OpenAlex

Number : 26

Citations

Citations: 1 046 1st author: 5 Last author: 2 Unique author: 0


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Latest Publications

5 most recent indexed articles

Source: Pubmed

Title Journal Year Citations
Correction: Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization.
PMID 41927804 — neurodevelopmental disorders, neurodevelopment
Eur J Hum Genet20260
The Clinical Spectrum and Neurodevelopmental Pathogenesis of KPTN-Related Disorder in a Mouse Model.
PMID 41696790 — white matter, cells, megalencephaly, epilepsy, neurons, sirolimus, neurodevelopment
Ann Neurol20260
Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization.
PMID 40562808 — phenotype, neurodevelopmental disorders, genotype, genetics, medical, neurodevelopment
Eur J Hum Genet20253
Evaluation of the diagnostic accuracy of exome sequencing and its impact on diagnostic thinking for patients with rare disease in a publicly funded health care system: A prospective cohort study.
PMID 37924259 — diagnosis, laboratories, cohort studies, rare diseases, genetics, medical, exome
Genet Med20230
Models of KPTN-related disorder implicate mTOR signalling in cognitive and overgrowth phenotypes.
PMID 37437211 — brain, stem cells, therapeutics, microscopy, electron, scanning transmission, neurology, phenotype, mechanistic target of rapamycin complex 1
Brain20233

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