Author

Michel van Geel

Maastricht University Medical CentreORCID 0000-0002-0273-8020Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

Click to filter author papers

Genetic & Genomic Medicine· 2 Genetics· 1

Signature Assays, Organisms & Methods

Click to filter · or open tag

Organism:human· 3 Approach:statistical model· 2 Assay:bulk RNA-seq· 1 Research Focus:differential expression· 1 Approach:experimental assay· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Maurice A. M. Van SteenseliD· 2 shared Aimee D. C. PaulusseniD· 1 shared Albert RübbeniD· 1 shared Alexander P.A. StegmanniD· 1 shared Anette BygumiD· 1 shared Antonio TorreloiD· 1 shared Arnette Shi Wei WongiD· 1 shared Arthur van den Wijngaard· 1 shared

Activity by Year

2018-2022 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 15 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

Maurice A. M. Van SteenselORCID

Mutual co-authors in cluster

Author profile →

3 papers

Recent·Most cited

Genetic & Genomic MedicineBritish Journal of DermatologyPeer-reviewedAug 20, 2022

Germline intergenic duplications at Xq26.1 underlie Bazex-Dupre-Christol syndrome, an inherited basal cell carcinoma susceptibility condition

Yanshan Liu, Siddharth Banka, Yingzhi Huang…·Xue Zhang

The paper identifies intergenic duplications at Xq26.1 as the genetic cause of Bazex-Dupre-Christol syndrome, linking them to ARHGAP36 dysregulation and BCC susceptibility.

19 citations

humanwhole-exome sequencing

Genetic & Genomic Medicinenpj Genomic MedicinePeer-reviewedNov 15, 2021

Pathogenic Neurofibromatosis type 1 (NF1) RNA-splicing resolved by targeted RNAseq

Roelof Koster, Rita D. Brandão, Demis Tserpelis…·Marinus J. Blok

This paper develops a targeted RNAseq approach to detect pathogenic RNA splicing variants in NF1, identifying novel splicing events and confirming splice variants in patients with NF1 symptoms.

27 citations

humanbulk RNA-seq

GeneticsHuman Molecular GeneticsPeer-reviewedMay 3, 2018

Functional analysis of a hypomorphic allele shows that MMP14 catalytic activity is the prime determinant of the Winchester syndrome phenotype

Ivo J. H. M. de Vos, Evelyn Yaqiong Tao, Sheena L. M. Ong…·Maurice A. M. Van Steensel

The paper identifies a hypomorphic MMP14 mutation in Winchester syndrome and shows its catalytic activity determines disease severity using in vitro and zebrafish models.

30 citations

humanzebrafish