Author

Bart de Koning

Maastricht University Medical CentreORCID 0000-0002-6979-1731Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

Click to filter author papers

Genetic & Genomic Medicine· 2

Signature Assays, Organisms & Methods

Click to filter · or open tag

Approach:experimental assay· 2 Organism:human· 2 Research Focus:variant calling· 2 Research Focus:differential expression· 1 Research Focus:drug response / drug discovery· 1 Research Focus:gene regulatory network inference· 1 Assay:whole-exome sequencing· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Maartje van de VorstiD· 2 shared A JansseniD· 1 shared Aimee D. C. PaulusseniD· 1 shared Alberta A. H. J. ThiadensiD· 1 shared Alexander HoischeniD· 1 shared Anna Maria TracewskaiD· 1 shared Arthur van den Wijngaard· 1 shared Bart Peter LeroyiD· 1 shared

Activity by Year

2023-2024 · 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

Maartje van de VorstORCID

Mutual co-authors in cluster

Author profile →

2 papers

Recent·Most cited

Clinical-grade whole genome sequencing-based haplarithmisis enables all forms of preimplantation genetic testing

A Janssen, Rebekka M. Koeck, Rick Essers, Ping Cao, Wanwisa van Dijk, Marion Drüsedau, Jeroen Meekels, Burcu Yaldiz, Maartje van de Vorst, Bart de Koning, Debby M.E.I. Hellebrekers, Servi J.C. Stevens, Su Ming Sun, Malou Heijligers, Sonja A. de Munnik, , Masoud Zamani Esteki

This paper introduces a whole genome sequencing-based haplarithmisis method for preimplantation genetic testing, improving coverage, reducing artifacts, and enabling new applications like trio-based aneuploidy detection.

Nature Communications · Sep 2, 2024Peer-reviewedGenetic & Genomic Medicine

Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis

Daan M. Panneman, Rebekkah J. Hitti‐Malin, Lara K. Holtes, Suzanne E. de Bruijn, Janine Reurink, Erica G. M. Boonen, Muhammad Imran Khan, Manir Ali, Sten Andréasson, Elfride De Baere, Sandro Banfi, Miriam Bauwens, Tamar Ben‐Yosef, Béatrice Bocquet, Marieke De Bruyne, , Susanne Roosing

The paper introduces a cost-effective smMIPs panel for genetic analysis of RP and LCA, achieving a 56% diagnostic yield comparable to WES.

Frontiers in Cell and Developmental Biology · Feb 3, 2023Peer-reviewedGenetic & Genomic Medicine