Bert Ba de Vries
29PUBLICATIONS
323CO-AUTHORS
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Publications (29)
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|Feb 12, 2026
Integrative transcriptomics and electrophysiological profiling of hiPSC-derived neurons identifies novel druggable pathways in Koolen-de Vries Syndrome.A H A Verboven, S Puvogel, B L Latour
|Jan 19, 2026
Autosomal Dominant FTH1 Variant Causing Pontocerebellar Hypoplasia and Late-Onset Neuroferritinopathy: A Case Report.Jasmijn Annemiek Hebbink, Jikke-Mien F Niermeijer, Elene Vroegindeweij
|Oct 10, 2025
SETBP1 variants outside the degron disrupt DNA-binding, transcription and neuronal differentiation capacity to cause a heterogeneous neurodevelopmental disorder.Maggie M K Wong, Rosalie A Kampen, Ruth O Braden
|Mar 31, 2025
DDX3X-related neurodevelopmental disorder in males - presenting a new cohort of 19 males and a literature review.Milou G P Kennis, Dmitrijs Rots, Arjan Bouman
|Mar 17, 2025
GA4GH Phenopacket-Driven Characterization of Genotype-Phenotype Correlations in Mendelian Disorders.Lauren Rekerle, Daniel Danis, Filip Rehburg
|Mar 10, 2025
Consistent Performance of GPT-4o in Rare Disease Diagnosis Across Nine Languages and 4967 Cases.Leonardo Chimirri, J Harry Caufield, Yasemin Bridges
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Frequent Collaborators
8 joint publications
David A Koolen
4 joint publications
Alexander Jm Dingemans
3 joint publications
Nicole de Leeuw
3 joint publications
R Frank Kooy
3 joint publications
Justin Reese
3 joint publications
Daniel Danis
3 joint publications
Jeroen van Reeuwijk
3 joint publications
Nael Nadif Kasri
3 joint publications
Markus S Ladewig
3 joint publications
Lisenka E L M Vissers
