Author

Els Karla Vanhoutte

Maastricht University Medical CentreORCID 0000-0002-5410-4636Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2

Signature Assays, Organisms & Methods

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Organism:human· 2 Research Focus:differential expression· 1 Approach:machine learning (classical)· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Agnès Rastetter· 1 shared Alexander HoischeniD· 1 shared Alexander P.A. StegmanniD· 1 shared Alice Janssen· 1 shared Alma Kuechler· 1 shared Amélie PitoniD· 1 shared Annet SimonsiD· 1 shared Anthony Vandersteen· 1 shared

Activity by Year

2022-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 20 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Agnès Rastetter

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2 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintJun 14, 2024

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…·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%.

2 citations

humanwhole-exome sequencing

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Genetic & Genomic MedicineNature CommunicationsPeer-reviewedNov 2, 2022

Systematic analysis and prediction of genes associated with disorders on chromosome X

Elsa Leitão, Christopher Schröder, Ilaria Parenti…·Christel Depienne

The paper systematically analyzes chrX genes to predict disease associations, identifying 235 genes likely involved in disorders and reporting damaging variants in CDK16 and TRPC5 in patients with intellectual disability or autism.

48 citationstop 2%

humanmachine learning (classical)

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