Author

Charlotte Willfors

Region StockholmORCID 0000-0001-8775-6537Unclaimed 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· 2 Assay:bulk RNA-seq· 1 Research Focus:cell type annotation· 1 Research Focus:differential expression· 1 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Approach:statistical model· 1 Research Focus:variant calling· 1

Frequent Co-Authors

Britt‐Marie AnderlidiD· 2 shared Kristiina TammimiesiD· 2 shared Sven BölteiD· 2 shared Ann NordgreniD· 1 shared Anna FalkiD· 1 shared Bhooma ThiruvahindrapuramiD· 1 shared Danyang LiiD· 1 shared Eric HerleniusiD· 1 shared

Activity by Year

2018-2020 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 35 mutual co-author links

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2 shared papersGenetics

Britt‐Marie AnderlidORCID

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2 papers

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

Copy Number Variation Analysis of 100 Twin Pairs Enriched for Neurodevelopmental Disorders

Sofia Stamouli, Britt‐Marie Anderlid, Charlotte Willfors, Bhooma Thiruvahindrapuram, John Wei, Steve Berggren, Ann Nordgren, Stephen W. Scherer, Paul Lichtenstein, Kristiina Tammimies, Sven Bölte

The paper analyzes copy number variations in 100 twin pairs enriched for neurodevelopmental disorders, finding no postzygotic de novo CNVs but higher rates of CNVs overlapping nervous system genes in discordant pairs.

Twin Research and Human Genetics · Jan 8, 2018Peer-reviewedGenetics