Apa Stegmann
11PUBLICATIONS
119CO-AUTHORS
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Publications (11)
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|Mar 11, 2026
Clinical, in vitro, and in vivo evidence of WAPL as a novel cohesinopathy gene and phenotypic driver of 10q22.3q23.2 genomic disorder.Philip M Boone, Serkan Erdin, Abucar Mohamed
|Sep 10, 2024
Variants in LRRC7 lead to intellectual disability, autism, aggression and abnormal eating behaviors.Jana Willim, Daniel Woike, Daniel Greene
|Jan 05, 2024
USP27X variants underlying X-linked intellectual disability disrupt protein function via distinct mechanisms.Intisar Koch, Maya Slovik, Yuling Zhang
|Oct 27, 2023
Systematic analysis of paralogous regions in 41,755 exomes uncovers clinically relevant variation.Wouter Steyaert, Lonneke Haer-Wigman, Rolph Pfundt
|Dec 13, 2022
Monoallelic CRMP1 gene variants cause neurodevelopmental disorder.Ethiraj Ravindran, Nobuto Arashiki, Lena-Luise Becker
|Nov 05, 2022
Pathogenic variants in SLF2 and SMC5 cause segmented chromosomes and mosaic variegated hyperploidy.Laura J Grange, John J Reynolds, Farid Ullah
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Frequent Collaborators
2 joint publications
Helger Yntema
2 joint publications
Christian Gilissen
2 joint publications
Antonio Vitobello
2 joint publications
Erica E Davis
2 joint publications
Hans-Jürgen Kreienkamp
1 joint publications
Margot R F Reijnders
1 joint publications
Andriy Kazantsev
1 joint publications
Alexander Bartholomäus
1 joint publications
Evelien Zonneveld-Huijssoon
1 joint publications
Tanja Kovacevic
