Author

Julia Hoefele

Technical University of MunichORCID 0000-0002-7917-7129Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

Click to filter author papers

Genetic & Genomic Medicine· 1 Genetics· 1

Signature Assays, Organisms & Methods

Click to filter · or open tag

Approach:experimental assay· 2 Organism:human· 2 Research Focus:cell type annotation· 1 Research Focus:differential expression· 1 Assay:DNA methylation· 1 Organism:Drosophila· 1 Research Focus:gene regulatory network inference· 1 Organism:mouse· 1

Frequent Co-Authors

Isabelle ThiffaultiD· 2 shared Abigail O. SmithiD· 1 shared Alicia M. H. CaseyiD· 1 shared Angela BahriD· 1 shared Anita M. RauchiD· 1 shared Annick Raas‐RothschildiD· 1 shared Beyhan TüysüziD· 1 shared C Man· 1 shared

Activity by Year

2020-2023 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 27 mutual co-author links

Click any collaborator node to inspect or filter shared papers

Focal author (center)Selected co-authorORCID co-authorUnlinked name

Curved chords = mutual co-authorship

2 shared papersGenetic & Genomic Medicine

Isabelle ThiffaultORCID

Mutual co-authors in cluster

Author profile →

2 papers

Recent·Most cited

IFT74 variants cause skeletal ciliopathy and motile cilia defects in mice and humans

Zeineb Bakey, Oscar A. Cabrera, Julia Hoefele, Dinu Antony, Kaman Wu, Michael W. Stuck, Dimitra Micha, Thibaut Eguether, Abigail O. Smith, Nicole N. van der Wel, Matias Wagner, Lara I. Strittmatter, Philip L. Beales, Julie A. Jonassen, Isabelle Thiffault, , Gregory J. Pazour

This study identifies IFT74 variants causing skeletal ciliopathy and motile cilia defects in humans and mice, revealing functional differences between motile and primary cilia.

PLoS Genetics · Jun 14, 2023Peer-reviewedGenetic & Genomic Medicine

Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome.

Joost Kummeling, Diante E. Stremmelaar, Nicholas Raun, Margot R.F. Reijnders, Marjolein H. Willemsen, Martina Ruiterkamp‐Versteeg, Marga T. Schepens, C Man, Christian Gilissen, Megan T. Cho, Kirsty M. McWalter, Margje Sinnema, James W. Wheless, Marleen Simon, Casie A. Genetti, , Tjitske Kleefstra

This study characterizes SETD1A haploinsufficiency in humans and Drosophila, identifying a novel neurodevelopmental syndrome with cognitive and developmental symptoms.

Molecular Psychiatry · Apr 28, 2020Peer-reviewedGenetics