Author

Lilian Liou Cohen

Weill Cornell MedicineORCID 0000-0003-3485-8104Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:statistical model· 2 Research Focus:benchmarking· 1 Assay:bulk RNA-seq· 1 Research Focus:database / resource· 1 Research Focus:differential expression· 1 Assay:electronic health records· 1

Frequent Co-Authors

Alexandra CarliD· 2 shared Karli S. SwensoniD· 2 shared Samantha BothwelliD· 2 shared Shanlee DavisiD· 2 shared Ada HamoshiD· 1 shared Alan David RogoliD· 1 shared Alan H. BeggsiD· 1 shared Alice PoissoniD· 1 shared

Activity by Year

2021-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 22 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Alexandra CarlORCID

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3 papers

Recent·Most cited

Genetic & Genomic MedicineAmerican Journal of Medical Genetics Part APeer-reviewedNov 5, 2025

Demographic Composition of Participants in Sex Chromosome Aneuploidy Studies across the Globe: a 20-year Systematic Review

Karli S. Swenson, Samantha Bothwell, Anastasia Zhivotov…·Shanlee Davis

This paper reviews 20 years of sex chromosome aneuploidy studies, finding geographic concentration and underrepresentation of diverse racial, ethnic, and socioeconomic groups in participant demographics.

1 citation

humanelectronic health records

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Genetic & Genomic MedicinemedRxivPreprintAug 14, 2024

Generating Advancements in Longitudinal Analysis in X and Y Variations: Rationale, Design, and Methods for the GALAXY Registry

Alexandra Carl, Samantha Bothwell, Karli S. Swenson…·Shanlee Davis

The paper introduces the GALAXY Registry, a longitudinal study aimed at improving diagnosis and understanding of sex chromosome aneuploidies through increased demographic diversity.

DOI 10.1101/2024.08.14.24311888

humandatabase / resource

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Genetic & Genomic MedicineGenetics in MedicinePeer-reviewedMar 3, 2021

Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior

Holly K. Harris, Tojo Nakayama, Jenny F. Lai…·Timothy W. Yu

The paper identifies RFX3, RFX4, and RFX7 mutations as causes of neurodevelopmental disorders including autism, ADHD, and intellectual disability, and links these genes to ASD risk genes through bioinformatic analysis.

84 citationstop 3%

humanbulk RNA-seq

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