Author

Cyril P. Pottier

Mayo ClinicORCID 0000-0002-3049-9346Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Neuroscience· 2 Genetic & Genomic Medicine· 1 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 4 Approach:statistical model· 4 Research Focus:differential expression· 2 Research Focus:gene regulatory network inference· 2 Assay:whole-genome sequencing· 2 Research Focus:cell type annotation· 1 Research Focus:drug response / drug discovery· 1 Approach:experimental assay· 1

Frequent Co-Authors

David S. KnopmaniD· 2 shared Gregory D. JenkinsiD· 2 shared Keith A. JosephsiD· 2 shared Marka van BlitterswijkiD· 2 shared Melissa Erin MurrayiD· 2 shared Nilüfer Ertekin‐TaneriD· 2 shared Owen A. RossiD· 2 shared Ronald Carl PeterseniD· 2 shared

Activity by Year

2020-2025 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

David S. KnopmanORCID

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Author profile →

4 papers

Recent·Most cited

Deciphering Distinct Genetic Risk Factors for FTLD-TDP Pathological Subtypes via Whole-Genome Sequencing

Cyril P. Pottier, Fahri Küçükali, Matt C. Baker, Anthony J. Batzler, Gregory D. Jenkins, Marka van Blitterswijk, Cristina T. Vicente, Wouter De Coster, Sarah Wynants, Pieter Van de Walle, Owen A. Ross, Melissa Erin Murray, Júlia Faura, Stephen J. Haggarty, Jeroen van Rooij, , Edward B. Lee

This study identifies genetic risk factors for FTLD-TDP subtypes using whole-genome sequencing and meta-analysis across multiple cohorts.

Nature Communications · Apr 25, 2025Peer-reviewedGenetic & Genomic Medicine

Haploinsufficiency of lysosomal enzyme genes in Alzheimers disease

Bruno A. Benítez, Clare E. Wallace, Maulikkumar Patel, Niko-Petteri Nykänen, Carla M. Yuede, Samantha L. Eaton, Cyril P. Pottier, Arda Cetin, Matthew Johnson, Mia T. Bevan, Woodrow D. Gardiner, Hannah M. Edwards, Brookelyn M. Doherty, Ryan T. Harrigan, Dominic Kurian, , Mark S. Sands

This study identifies heterozygous lysosomal enzyme gene mutations as risk factors for Alzheimer's disease and validates their impact on amyloid-beta processing using mouse models.

bioRxiv · Nov 16, 2024 · PreprintNeuroscience

Single-cell profiling of the human primary motor cortex in ALS and FTLD

Sergio Sebastian Pineda, Hyeseung Lee, Brent E. Fitzwalter, Shahin Mohammadi, Luc Pregent, Mahammad Gardashli, Julio C. Mantero, Erica Engelberg-Cook, Mariely DeJesus‐Hernandez, Marka van Blitterswijk, Cyril P. Pottier, Rosa Rademakers, Björn Oskarsson, Jaimin S. Shah, Ronald Carl Petersen, , Manolis Kellis

The paper creates a single-cell atlas of the human primary motor cortex in ALS and FTLD, identifying transcriptional changes and molecular similarities between Betz cells and VENs.

Cell · Mar 22, 2024Peer-reviewedNeuroscience

Identification of novel Alzheimer's disease genes co-expressed with TREM2

Joseph S. Reddy, Mariet Allen, Xue Wang, Joanna M. Biernacka, Brandon J. Coombes, Gregory D. Jenkins, Jason P. Sinnwell, Minerva M. Carrasquillo, Cyril P. Pottier, Yingxue Ren, Vivekananda Sarangi, Curtis S. Younkin, Yan W. Asmann, Owen A. Ross, Rosa Rademakers, , Steven G. Younkin

The paper identifies four genes, including two novel ones, co-expressed with TREM2 in Alzheimer's disease using whole-exome data from ADSP.

bioRxiv · Nov 13, 2020 · PreprintGenetics