Author

Marleen Simon

University Medical Center Utrecht

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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Genetic & Genomic Medicine· 2 Developmental Biology· 1 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 4 Approach:statistical model· 3 Research Focus:differential expression· 2 Approach:experimental assay· 2 Assay:bulk RNA-seq· 1 Research Focus:cell type annotation· 1 Assay:DNA methylation· 1 Organism:Drosophila· 1

Frequent Co-Authors

Anita M. RauchiD· 2 shared Bert B A De VriesiD· 2 shared Casie A. GenettiiD· 2 shared Christian GilisseniD· 2 shared Eva Maria Christina SchwaiboldiD· 2 shared Koen L.I. van GasseniD· 2 shared Marjolein H. WillemseniD· 2 shared Pankaj B. AgrawaliD· 2 shared

Activity by Year

2020-2022 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Anita M. RauchORCID

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Author profile →

4 papers

Recent·Most cited

A tissue-specific ubiquitin switch coordinates brain, craniofacial, and skin development

Anthony J. Asmar, Rita M. Yazejian, Youmei Wu, Jason C. Collins, Jenny Hsin, Jean Cho, Andrew D. Doyle, Samhitha Cinthala, Marleen Simon, Richard H. van Jaarsveld, David B. Beck, Laura Kerosuo, Achim A Werner

The paper identifies a ubiquitin switch mechanism that regulates CDC42 signaling to coordinate ectodermal patterning in vertebrate development.

bioRxiv · Sep 26, 2022 · PreprintDevelopmental Biology

Inherited variants in CHD3 demonstrate variable expressivity in Snijders Blok-Campeau syndrome

Jet van der Spek, Joery den Hoed, Lot Snijders Blok, Alexander J.M. Dingemans, Dick Schijven, Christoffer Nellåker, Hanka Venselaar, Galuh Astuti, Tahsin Stefan Barakat, Elizabeth Martina Bebin, Stefanie Beck‐Wödl, Gea Beunders, Natasha J. Brown, Theresa Brunet, Han G. Brunner, , Tjitske Kleefstra

The paper shows inherited CHD3 variants cause Snijders Blok-Campeau syndrome with variable expressivity, overlapping with de novo variants' phenotypes, and suggests reduced penetrance is not due to expression compensation.

Genetics in Medicine · Mar 25, 2022Peer-reviewedGenetic & Genomic Medicine

Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior

Holly K. Harris, Tojo Nakayama, Jenny F. Lai, Boxun Zhao, Nikoleta Argyrou, Cynthia Sophia Gubbels, Aubrie Soucy, Casie A. Genetti, Victoria Suslovitch, Lance H. Rodan, George E. Tiller, Gaëtan Lesca, Karen Webster Gripp, Reza Asadollahi, Ada Hamosh, , Timothy W. Yu

The paper identifies RFX3, RFX4, and RFX7 mutations as causes of neurodevelopmental disorders including autism, ADHD, and intellectual disability, and links these genes to ASD risk genes through bioinformatic analysis.

Genetics in Medicine · Mar 3, 2021Peer-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