Author

Jan Philipp Reising

Karolinska University HospitalORCID 0000-0002-7803-7466Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Assay:bulk RNA-seq· 1 Research Focus:cell type annotation· 1 Approach:experimental assay· 1 Organism:human· 1

Frequent Co-Authors

Anna FalkiD· 1 shared Britt‐Marie AnderlidiD· 1 shared Charlotte WillforsiD· 1 shared Danyang LiiD· 1 shared Eric HerleniusiD· 1 shared Francesca MastropasquaiD· 1 shared Ielyzaveta RabkinaiD· 1 shared Janina NeufeldiD· 1 shared

Activity by Year

2020-2020 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetics

Anna FalkORCID

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1 paper

Recent·Most cited

Presynaptic dysfunction in CASK-related neurodevelopmental disorders

Martin Becker, Francesca Mastropasqua, Jan Philipp Reising, Simon J. Maier, Mai‐Lan Ho, Ielyzaveta Rabkina, Danyang Li, Janina Neufeld, Lea Ballenberger, Lynnea Myers, Viveka Moritz, Malin Kele, Josephine Wincent, Charlotte Willfors, Rouslan Sitnikov, , Kristiina Tammimies

This study investigates the effects of CASK mutations in human neurons derived from iPSCs, showing reduced CASK protein and altered presynaptic development, with implications for excitatory-inhibitory balance.

Translational Psychiatry · Sep 14, 2020Peer-reviewedGenetics