Elke de Boer

Jun 23, 2024 | nature.com | Kornelia Ellwanger |Julie Brill |Elke de Boer |Amanda G. Lobato |Michela Ori |Ashleigh E. Schaffer | +5 more

In biomedical research, particularly for rare diseases (RDs), there is a critical need for model organisms to unravel the mechanistic basis of diseases, perform biomarker studies and develop potential therapeutic interventions. Within Solve-RD, an EU-funded research project with the aim of solving large numbers of previously unsolved RDs, the European Rare Disease Models & Mechanisms Network (RDMM-Europe) has been established.

Apr 2, 2024 | nature.com | Alix Paulet |Andrew Green |Rosalyn Jewell |Minna Kraatari-Tiri |Juliette Piard |Wayne Lam | +11 more

Correction to: European Journal of Human Genetics https://doi.org/10.1038/s41431-024-01560-8, published online 15 February 2024In the original version of this article, the given and family names of Samuel Groeschel were incorrectly structured. The name was displayed correctly in all versions at the time of publication.

Feb 14, 2024 | nature.com | Andrew Green |Rosalyn Jewell |Minna Kraatari-Tiri |Juliette Piard |Wayne Lam |Francis Ramond | +11 more

AbstractTranslation elongation factor eEF1A2 constitutes the alpha subunit of the elongation factor-1 complex, responsible for the enzymatic binding of aminoacyl-tRNA to the ribosome. Since 2012, 21 pathogenic missense variants affecting EEF1A2 have been described in 42 individuals with a severe neurodevelopmental phenotype including epileptic encephalopathy and moderate to profound intellectual disability (ID), with neurological regression in some patients.

Aug 7, 2023 | nature.com | Jeroen van Reeuwijk |Nicole de Leeuw |Elke de Boer |Charlotte W. Ockeloen |David A. Koolen |Philippe M Campeau | +9 more

Author notesThese authors contributed equally: Lisenka E. L. M. Vissers, Bert B. A. de Vries. Authors and AffiliationsDepartment of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the NetherlandsAlexander J. M. Dingemans, Kim M. G. Truijen, Lia Goltstein, Jeroen van Reeuwijk, Nicole de Leeuw, Janneke Schuurs-Hoeijmakers, Rolph Pfundt, Illja J. Diets, Elke de Boer, Jet Coenen-van der Spek, Bregje W. van Bon, Noraly Jonis, Charlotte W.

Jun 29, 2023 | nature.com | Caroline D. Robson |Zhongyang Zhang |Brandon M. Pratt |Arushi Varshney |Monkol Lek |Narisu Narisu | +14 more

Additional methods information can be found in Supplementary Information. Data were excluded from the study only if rendered uninterpretable for technical reasons, including damage to cryosections that precluded quantification. In these instances, a replicate sample was processed and included in the study. For scRNA-seq, one E9.5 dataset was excluded from the study due to high free RNA content and the experiment was repeated to generate a usable dataset.