Author

Elise van Hoof

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

Click to filter author papers

Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

Click to filter · or open tag

Organism:human· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Alexander HoischeniD· 1 shared Alice Janssen· 1 shared Annet SimonsiD· 1 shared Anthony Vandersteen· 1 shared Beáta DérfalviiD· 1 shared Caspar I. van der MadeiD· 1 shared Catharina M. Mulders‐MandersiD· 1 shared Christian GilisseniD· 1 shared

Activity by Year

2024-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 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

1 shared paperGenetic & Genomic Medicine

Alexander HoischenORCID

Mutual co-authors in cluster

Author profile →

1 paper

Recent·Most cited

Clinical exome sequencing data from patients with inborn errors of immunity: cohort level meta-analysis and the benefit of systematic reanalysis

Emil E. Vorsteveld, Caspar I. van der Made, Sanne P. Smeekens, Janneke H. M. Schuurs-Hoeijmakers, Galuh Astuti, Heleen Diepstra, Christian Gilissen, Evelien Hoenselaar, Alice Janssen, Kees E. P. van Roozendaal, Jettie Sikkema-van Engelen, Wouter Steyaert, Marjan M. Weiss, Helger G. Yntema, Tuomo Mantere, , Alexander Hoischen

This study reanalyzes exome sequencing data from 1,300 IEI patients, finding that systematic reanalysis increases the molecular diagnostic yield from 11.8% to 15.2%.

medRxiv · Jun 14, 2024 · PreprintGenetic & Genomic Medicine