Author

MD Study Group

Radboud University Nijmegen

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· 1

Signature Assays, Organisms & Methods

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Approach:experimental assay· 1 Organism:human· 1 Research Focus:variant calling· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Alexander HoischeniD· 1 shared Anneke I. den HollanderiD· 1 shared Christian GilisseniD· 1 shared Claire‐Marie DhaenensiD· 1 shared Daan M. PannemaniD· 1 shared Erica G. M. BooneniD· 1 shared Femke Bults· 1 shared Frans P.M. CremersiD· 1 shared

Activity by Year

2022-2022 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Alexander HoischenORCID

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1 paper

Recent·Most cited

Using single molecule Molecular Inversion Probes as a cost-effective, high-throughput sequencing approach to target all genes and loci associated with macular diseases.

Rebekkah J. Hitti‐Malin, Claire‐Marie Dhaenens, Daan M. Panneman, Zelia Corradi, Mubeen Khan, Anneke I. den Hollander, Gwyneth Jane Farrar, Christian Gilissen, Alexander Hoischen, Maartje van de Vorst, Femke Bults, Erica G. M. Boonen, Patrick Saunders, MD Study Group, Susanne Roosing, Frans P.M. Cremers

The paper uses smMIPs to sequence MD-associated genes and loci in patients, achieving high coverage and a 38% diagnostic yield.

Human Mutation · Oct 19, 2022Peer-reviewedGenetic & Genomic Medicine