Author

Femke Bults

Radboud University Medical Center

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 Genetics· 1

Signature Assays, Organisms & Methods

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Approach:experimental assay· 2 Organism:human· 2 Research Focus:variant calling· 2 Assay:whole-genome sequencing· 2

Frequent Co-Authors

Alexander HoischeniD· 2 shared Christian GilisseniD· 2 shared Claire‐Marie DhaenensiD· 2 shared Frans P.M. CremersiD· 2 shared Gwyneth Jane FarrariD· 2 shared Mubeen KhaniD· 2 shared Adrian DockeryiD· 1 shared Alaa AlTalbishiiD· 1 shared

Activity by Year

2020-2022 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Alexander HoischenORCID

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2 papers

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

Resolving the dark matter of ABCA4 for 1,054 Stargardt disease probands through integrated genomics and transcriptomics

Mubeen Khan, Stéphanie S. Cornelis, Marta Del Pozo‐Valero, Laura Whelan, Esmee H. Runhart, Ketan Mishra, Femke Bults, Yahya AlSwaiti, Alaa AlTalbishi, Elfride De Baere, Sandro Banfi, Eyal Banin, Miriam Bauwens, Tamar Ben‐Yosef, Camiel J. F. Boon, , Frans P.M. Cremers

The paper identifies pathogenic deep-intronic and structural variants in 26% of unsolved Stargardt disease cases using integrated genomics and transcriptomics.

Genetics in Medicine · Apr 19, 2020Peer-reviewedGenetics