Author

Gerarda Cappuccio

Baylor College of MedicineORCID 0000-0003-3934-2342Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genetics· 1 Neuroscience· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Research Focus:differential expression· 2 Assay:DNA methylation· 2 Organism:mouse· 2 Approach:statistical model· 2 Research Focus:cell-cell communication· 1 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1

Frequent Co-Authors

Nicolas ChatroniD· 2 shared Akemi J. Tanaka· 1 shared Alexandre ReymondiD· 1 shared Alfredo BruscoiD· 1 shared Amy SchneideriD· 1 shared Anna HurstiD· 1 shared Anna Mikhaleva· 1 shared Armand SorianoiD· 1 shared

Activity by Year

2019-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 19 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Nicolas ChatronORCID

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3 papers

Recent·Most cited

NeurosciencebioRxivPreprintDec 26, 2025

MECP2 Duplication Uncouples Mitochondrial and Purine Metabolism During neuronal maturation

Gerarda Cappuccio, Guantong Qi, Xuan Qin…·Mirjana Maletić‐Savatić

The paper identifies a disrupted mitochondrial-purine metabolism link in MECP2 Duplication Syndrome across multiple models, linking it to neurodevelopmental issues.

2 citations

humanmouse

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Genetic & Genomic MedicineNature CommunicationsPeer-reviewedAug 6, 2024

Diagnostic Utility of Genome-wide DNA Methylation Analysis in Genetically Unsolved Developmental and Epileptic Encephalopathies and Refinement of a CHD2 Episignature

Christy W. LaFlamme, Cassandra Rastin, Soham Sengupta…·Heather C. Mefford

This study evaluates genome-wide DNA methylation analysis in genetically unsolved DEEs, identifying 10 causative or candidate genetic causes and refining a CHD2 episignature.

31 citationstop 1%

humanDNA methylation

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GeneticsbioRxivPreprintJul 17, 2019

Variants in the degron of AFF3 cause a multi-system disorder with mesomelic dysplasia, horseshoe kidney and developmental and epileptic encephalopathy

Norine Voisin, Rhonda E. Schnur, Sofia Douzgou…·Alexandre Reymond

The paper identifies degron variants in AFF3 causing a multi-system disorder with specific clinical features and demonstrates phenotypic overlap with AFF4-related syndromes.

DOI 10.1101/693937

humanzebrafish

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