Author

Vincent Timmerman

University of AntwerpORCID 0000-0002-2162-0933Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Neuroscience· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Research Focus:cell type annotation· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Aaron HeldiD· 1 shared Alice Monticelli· 1 shared Alicia Alonso‐JiméneziD· 1 shared Ana‐Caroline RauliniD· 1 shared Andrian YangiD· 1 shared Biljana ErmanoskaiD· 1 shared Birgitt SchüleiD· 1 shared Brian J. WaingeriD· 1 shared

Activity by Year

2022-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 24 mutual co-author links

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1 shared paperNeuroscience

Aaron HeldORCID

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2 papers

Recent·Most cited

A Heterozygous 9q34 deletion encompassing SPTAN1 as a cause of distal myopathy

Liedewei Van de Vondel, Jonathan De Winter, Alice Monticelli, Natacha Camacho, Tine Deconinck, Katrien Janssens, Goedele Malfroid, Alicia Alonso‐Jiménez, German M. Demidov, Steven Laurie, Willem De Ridder, Biljana Ermanoska, Vincent Timmerman, Jonathan Baets

This study identifies a heterozygous 9q34 deletion involving SPTAN1 as a cause of distal myopathy, showing age-dependent effects and highlighting CNV detection in exome sequencing for diagnosis.

European Journal of Human Genetics · Sep 25, 2025Peer-reviewedGenetic & Genomic Medicine

A reference induced pluripotent stem cell line for large-scale collaborative studies

Caroline B. Pantazis, Andrian Yang, Erika Lara, Justin A. McDonough, Cornelis Blauwendraat, Lirong Peng, Hideyuki Oguro, Jitendra Kumar Kanaujiya, Jizhong Zou, David P. Sebesta, Gretchen Pratt, Erin Cross, Jeffrey Blockwick, Philip Buxton, Lauren Kinner-Bibeau, , Florian T. Merkle

The paper identifies and characterizes a reference iPSC line, KOLF2.1J, for standardized use in collaborative studies across multiple differentiation protocols and assays.

Cell stem cell · Dec 1, 2022Peer-reviewedNeuroscience