Author

Perrine F. Kretz

Centre National de la Recherche Scientifique

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Genetics· 2

Signature Assays, Organisms & Methods

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Research Focus:cell type annotation· 2 Research Focus:differential expression· 2 Approach:experimental assay· 2 Organism:mouse· 2 Assay:bulk RNA-seq· 1 Research Focus:cell-cell communication· 1 Research Focus:gene regulatory network inference· 1 Organism:human· 1

Frequent Co-Authors

Binnaz YalciniD· 2 shared Stephan C. CollinsiD· 2 shared Adam Hunter· 1 shared Alexandra S. NeaversoniD· 1 shared Alexandre ReymondiD· 1 shared Andrew Day· 1 shared Andrew H. CrosbyiD· 1 shared Andrew Y. ShueniD· 1 shared

Activity by Year

2022-2022 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 33 mutual co-author links

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2 shared papersGenetics

Binnaz YalcinORCID

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2 papers

Recent·Most cited

Mouse and cellular models of KPTN-related disorder implicate mTOR signalling in cognitive and progressive overgrowth phenotypes

Maria O. Levitin, Lettie E. Rawlins, Gabriela Sánchez-Andrade, Osama A. Arshad, Stephan C. Collins, Stephen J. Sawiak, Philip H. Iffland, Malin H. L. Andersson, Caleb P. Bupp, Emma L. Cambridge, Eve L. Coomber, Ian Ellis, Johanna C. Herkert, Holly Ironfield, Logan Jory, , Sebastian S. Gerety

The paper investigates KPTN-related disorder using mouse and human stem cell models, identifying mTOR pathway dysregulation as a key mechanism underlying cognitive and overgrowth phenotypes.

bioRxiv · Jul 15, 2022 · PreprintGenetics

Dissecting the autism-associated 16p11.2 locus identifies multiple drivers in brain phenotypes and unveils a new role for the major vault protein

Perrine F. Kretz, Christel Wagner, Charlotte Montillot, Sylvain Hugel, Ilaria Morella, Meghna Kannan, Anna Mikhaleva, Marie‐Christine Fischer, Maxence Milhau, Riccardo Brambilla, Yann Hérault, Alexandre Reymond, Mohammed Selloum, Stephan C. Collins, Binnaz Yalcin

The paper identifies multiple genes at the 16p11.2 locus contributing to brain size and neuroanatomical phenotypes in mice, with MVP as a key driver, and shows its interaction with ERK in regulating brain morphology and behavior.

bioRxiv · Jan 23, 2022 · PreprintGenetics