Author

Katherine N. Anderson

Boston Children's HospitalORCID 0009-0001-1542-0492Unclaimed 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· 1 Assay:bulk RNA-seq· 1 Research Focus:database / resource· 1 Research Focus:differential expression· 1 Approach:experimental assay· 1 Organism:human· 1 Research Focus:software / tool· 1 Approach:statistical model· 1

Frequent Co-Authors

Abbe LaiiD· 1 shared Alan H. BeggsiD· 1 shared Alicia B. ByrneiD· 1 shared Ana TöpfiD· 1 shared Angela You GwaltneyiD· 1 shared Anjali SadhwaniiD· 1 shared Anne O’Donnell‐LuriaiD· 1 shared Anne WheeleriD· 1 shared

Activity by Year

2026-2026 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 21 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Abbe LaiORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintOct 7, 2026

Systematic evaluation of incomplete penetrance in 4,325 rare disease families reveals divergent transcriptional networks in CHD8 pathology

Mugdha Singh, Sarah L. Stenton, Emily Groopman…·Sanna Gudmundsson

The paper evaluates incomplete penetrance in 4,325 rare disease families, finding 1.6% of diagnosed cases involve inherited variants from unaffected parents and showing divergent transcriptional effects in CHD8-related cases.

1 citation

humanbulk RNA-seq

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Genetic & Genomic MedicineValue in HealthPeer-reviewedJan 5, 2026

Developing Meaningful Score Differences for the Bayley-4 and Vineland-3 in Angelman Syndrome using a Delphi Panel

Sonya Powers, Katherine N. Anderson, Wen‐Hann Tan…·Katalin Buzási

This paper develops meaningful score differences (MSDs) for the Bayley-4 and Vineland-3 in Angelman syndrome using a Delphi panel, finding that MSD thresholds vary with baseline functioning severity.

3 citationstop 1%

experimental assaybenchmarking

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