Author

Sanne P. Smeekens

Radboud University Medical CenterORCID 0000-0002-7835-914XUnclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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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

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1 shared paperGenetic & Genomic Medicine

Alexander HoischenORCID

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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