Author

Nicole Si Yan Liang

Hospital for Sick ChildrenORCID 0000-0002-3765-0766Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Research Focus:benchmarking· 2 Approach:benchmark study· 1 Research Focus:database / resource· 1 Organism:human· 1 Approach:statistical model· 1

Frequent Co-Authors

Gregory CostainiD· 2 shared Aastha Gandhi· 1 shared Ahmed A. JamjoomiD· 1 shared Ali AlMailiD· 1 shared Alice E. DavidsoniD· 1 shared Alissa M. D’GamaiD· 1 shared Amy McTagueiD· 1 shared Amy Y. PaniD· 1 shared

Activity by Year

2023-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 25 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Gregory CostainORCID

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2 papers

Recent·Most cited

Consensus guidelines for eligibility assessment of pathogenic variants to antisense oligonucleotide treatments

David Cheerie, Margaret M. Meserve, Danique Beijer, Charu Kaiwar, Logan Newton, Ana Lisa Taylor Tavares, Aubrie Soucy, Emma Sherrill, Stefanie Leonard, Stephan Sanders, Emily J. Blake, Nour M. Elkhateeb, Aastha Gandhi, Nicole Si Yan Liang, J. Morgan, , Marlen C. Lauffer

The paper presents consensus guidelines for assessing pathogenic variants' eligibility for antisense oligonucleotide treatments, including classification criteria and considerations for different therapeutic approaches.

The American Journal of Human Genetics · Mar 26, 2025Peer-reviewedGenetic & Genomic Medicine

Gaps in the phenotype descriptions of ultra-rare genetic conditions: review and multi-center consensus reporting guidelines

Ali AlMail, Ahmed A. Jamjoom, Amy Y. Pan, Min Yi Feng, Vann Chau, Alissa M. D’Gama, Katherine B. Howell, Nicole Si Yan Liang, Amy McTague, Annapurna Poduri, Kimberly Wiltrout, Anne S. Bassett, John Christodoulou, Lucie Dupuis, Peter J. Gill, , Gregory Costain

The paper reviews phenotype reporting in genetic disorders and proposes guidelines to improve clinical relevance.

medRxiv · Sep 13, 2023 · PreprintGenetic & Genomic Medicine