Author

Pasquelena De Nittis

Swiss Cancer Center LémanORCID 0000-0001-7144-8425Unclaimed 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· 2 Approach:statistical model· 2 Assay:bulk RNA-seq· 1 Research Focus:differential expression· 1 Research Focus:gene regulatory network inference· 1 Organism:mouse· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Alexandre ReymondiD· 1 shared András HatosiD· 1 shared Caroline C. PhilpottiD· 1 shared Davide S. RissoiD· 1 shared Debora Sesia· 1 shared Eleonora PorcuiD· 1 shared Ethan BaratziD· 1 shared Evan E. EichleriD· 1 shared

Activity by Year

2019-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 24 mutual co-author links

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1 shared paperGenetics

Alexandre ReymondORCID

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2 papers

Recent·Most cited

Cancer BiologybioRxivPreprintJan 22, 2026

ButterflyVI: enabling high-throughput variant interpretation and biomarker discovery with functional genomics

Debora Sesia, András Hatos, Pasquelena De Nittis, Giovanni Ciriello

ButterflyVI integrates statistical learning and experimental data to annotate cancer variants and discover biomarkers, finding 60% of annotated variants were previously unknown.

DOI 10.64898/2026.01.20.700339

humanwhole-exome sequencing

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GeneticsThe American Journal of Human GeneticsPeer-reviewedOct 24, 2019

The human-specific BOLA2 duplication modifies iron homeostasis and anemia predisposition in chromosome 16p11.2 autism patients

Giuliana Giannuzzi, Paul Joseph Schmidt, Eleonora Porcu…·Alexandre Reymond

The paper investigates how BOLA2 duplication in chromosome 16p11.2 affects iron homeostasis and anemia risk in autism patients, finding associations with anemia and iron deficiency.

50 citations

humanmouse

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