Author

Alice Y. K. Chan

University of California, San FranciscoORCID 0000-0003-1466-7044Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Assay:CRISPR screen· 1 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Organism:mouse· 1 Approach:statistical model· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Abduarahman Almutairi· 1 shared Agustin Bernacchia· 1 shared Alejandro Nieto-PatlániD· 1 shared Alexander MarsoniD· 1 shared Anita Chacko· 1 shared Benjamin G. GoweniD· 1 shared Benjamin McLeaniD· 1 shared Bo YuaniD· 1 shared

Activity by Year

2016-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 29 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Abduarahman Almutairi

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2 papers

Recent·Most cited

Genetic & Genomic MedicineGenetics in MedicinePeer-reviewedOct 15, 2025

The ClinGen Severe Combined Immunodeficiency Disease Variant Curation Expert Panel: Specifications for classification of variants in ADA, DCLRE1C, IL2RG, IL7R, JAK3, RAG1, and RAG2

Vanessa Cristina Jacovas, Michelle Zelnick, Shannon M. McNulty…·Xinrui Shi

The paper develops SCID-specific variant classification guidelines by adapting ACMG/AMP criteria for seven SCID-related genes using expert review and a pilot variant set.

9 citationstop 3%

humanstatistical model

𝕏 PostBluesky

GeneticsbioRxivPreprintDec 5, 2016

Discovery of an autoimmunity-associated IL2RA enhancer by unbiased targeting of transcriptional activation

Dimitre R. Simeonov, Benjamin G. Gowen, Mandy Y. Boontanrart…·Alexander Marson

The paper identifies an IL2RA enhancer associated with autoimmunity using CRISPRa and shows it affects gene activation timing without blocking expression.

4 citations

humanmouse

𝕏 PostBluesky