Author

Jennifer Rakotomamonjy

Northwestern UniversityORCID 0000-0002-6375-0920Unclaimed 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· 4 Research Focus:differential expression· 3 Assay:bulk RNA-seq· 2 Research Focus:cell type annotation· 2 Approach:experimental assay· 2 Approach:statistical model· 2 Research Focus:benchmarking· 1 Research Focus:cell-cell communication· 1

Frequent Co-Authors

Alicia Guemez‐GamboaiD· 4 shared Lauren E. RylaarsdamiD· 3 shared Alison M. MuiriD· 1 shared Amy SchneideriD· 1 shared Angus Clark NairniD· 1 shared Annalisa VetroiD· 1 shared Annika L. SchroderiD· 1 shared Ashley Woo· 1 shared

Activity by Year

2021-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 25 mutual co-author links

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4 shared papersNeuroscience

Alicia Guemez‐GamboaORCID

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4 papers

Recent·Most cited

PACS1 syndrome variant alters proteomic landscape of developing cortical organoids

Ximena Gómez-Maqueo, Lauren E. Rylaarsdam, Ashley Woo, Annika L. Schroder, Jennifer Rakotomamonjy, Clare L Bossert, Tess A Smith, Shelby Ruiz, Jordan Gilardi, Lambertus Klei, Bernie Devlin, Matthew L. MacDonald, Alicia Guemez‐Gamboa

This study examines how the PACS1 p.R203W variant affects the proteomic landscape of brain organoids, identifying dysregulated proteins and processes linked to neurodevelopmental disorders.

bioRxiv · Apr 23, 2025 · PreprintNeuroscience

iPSC-derived models of PACS1 syndrome reveal transcriptional and functional deficits in neuron activity

Lauren E. Rylaarsdam, Jennifer Rakotomamonjy, Eleanor G. Pope, Alicia Guemez‐Gamboa

This study uses iPSC-derived neurons to show that the PACS1 p.R203W variant causes synaptic signaling deficits and prolonged neuronal network bursts in human neurons.

Nature Communications · Jan 27, 2024Peer-reviewedNeuroscience

Impaired migration and premature differentiation underlie the neurological phenotype associated with PCDH12 loss of function

Jennifer Rakotomamonjy, Lauren E. Rylaarsdam, Lucas Fares‐Taie, Sean McDermott, Devin Davies, George Yang, Fikayo Fagbemi, Maya Epstein, Alicia Guemez‐Gamboa

This study shows that PCDH12 loss impairs cerebral organoid development and neuronal migration, leading to neurodevelopmental disorders.

bioRxiv · Jan 5, 2023 · PreprintNeuroscience

Pathogenic MAST3 variants in the STK domain are associated with epilepsy

Egidio Spinelli, Kyle R. Christensen, Emily M. Bryant, Amy Schneider, Jennifer Rakotomamonjy, Alison M. Muir, Jessica Giannelli, Rebecca Okashah Littlejohn, Elizabeth R. Roeder, Berkley Schmidt, William G. Wilson, Elysa J. Marco, Kazuhiro Iwama, Satoko Kumada, Tiziana Pisano, , Gemma L. Carvill

The paper identifies de novo MAST3 variants in individuals with epilepsy, showing they may confer gain-of-function and are restricted to excitatory neurons in the cortex.

Annals of Neurology · Jun 29, 2021Peer-reviewedGenetics