Author

Iris Lekkerkerker

University Medical Center UtrechtORCID 0000-0003-2017-6436Unclaimed 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 Approach:statistical model· 2 Research Focus:variant effect prediction· 2 Research Focus:gene regulatory network inference· 1 Assay:whole-exome sequencing· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Adele MitrottiiD· 1 shared Agnieszka SzmigielskaiD· 1 shared Albert C.M. OngiD· 1 shared Albertien M. van EerdeiD· 1 shared Aleksandra GliwińskaiD· 1 shared Alice E. DavidsoniD· 1 shared Alistair T. PagnamentaiD· 1 shared Amy R. HicksiD· 1 shared

Activity by Year

2023-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 20 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Adele MitrottiORCID

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2 papers

Recent·Most cited

Exome-wide analysis of congenital kidney anomalies reveals new genes and shared architecture with developmental disorders

Hila Milo Rasouly, Sarath Babu Krishna Murthy, Natalie Vena, Gundula Povysil, Andrew Beenken, Miguel Verbitsky, Shirlee Shril, Iris Lekkerkerker, Sandy Yu-Rung Yang, Atlas Khan, David A. Fasel, Janewit Wongboonsin, Jeremiah Martino, Juntao Ke, Naama Elefant, , Yaşar Çalışkan

This study identifies new genes and shared genetic architecture between kidney anomalies and other developmental disorders using exome-wide analysis of clinical cohorts.

Nature Communications · Aug 7, 2025Peer-reviewedGenetic & Genomic Medicine

Rare disease gene association discovery from burden analysis of the 100,000 Genomes Project data

Valentina Cipriani, Letizia Vestito, Emma Forton Magavern, Julius O.B. Jacobsen, Gavin Arno, Elijah Raphael Behr, Katherine Angela Benson, Marta Bértoli, Detlef Böckenhauer, Michael R. Bowl, Kate Burley, Li F. Chan, Patrick Francis Chinnery, Peter J. Conlon, Marcos Abreu Costa, , Damian P. Smedley

The paper identifies 88 novel rare disease-gene associations using a burden analysis framework on whole genome sequencing data from the 100,000 Genomes Project, with potential clinical impact for undiagnosed cases.

medRxiv · Dec 20, 2023 · PreprintGenetic & Genomic Medicine