Han G. Brunner
Affiliations: | Human genetics | Radboud University Nijmegen, Nijmegen, Gelderland, Netherlands |
Area:
medical geneticsWebsite:
http://www.nbic.nl/about-nbic/nbic-faculty/details/prof-dr-han-g-brunner/Google:
"Han Brunner"Bio:
http://knaw.nl/nl/leden/leden/13789
https://www.radboudumc.nl/OverhetRadboudumc/Hoogleraren/Pages/HanBrunner.aspx
Cross-listing: GenetiTree
Parents
Sign in to add mentor| H.-Hilger Ropers | grad student | 1993 | Radboud University Nijmegen | |
| (Genetic studies in myotonic dystrophy) | ||||
| Bé Wieringa | grad student | 1993 | Radboud University Nijmegen | |
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Publications
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| Rots D, Rooney K, Relator R, et al. (2024) Refining the 9q34.3 microduplication syndrome reveals mild neurodevelopmental features associated with a distinct global DNA methylation profile. Clinical Genetics |
| Szakszon K, Lourenco CM, Callewaert BL, et al. (2023) Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients with mutations. Journal of Medical Genetics |
| Wiel L, Hampstead JE, Venselaar H, et al. (2022) De novo mutation hotspots in homologous protein domains identify function-altering mutations in neurodevelopmental disorders. American Journal of Human Genetics. 110: 92-104 |
| Antony D, Gulec Yilmaz E, Gezdirici A, et al. (2022) Spectrum of Genetic Variants in a Cohort of 37 Laterality Defect Cases. Frontiers in Genetics. 13: 861236 |
| Lima AR, Ferreira BM, Zhang C, et al. (2022) Phenotypic and mutational spectrum of ROR2-related Robinow syndrome. Human Mutation |
| Stevens SJC, Stumpel CTRM, Diderich KEM, et al. (2021) The broader phenotypic spectrum of congenital caudal abnormalities associated with mutations in the caudal type homeobox 2 gene. Clinical Genetics |
| den Hoed J, de Boer E, Voisin N, et al. (2021) Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction. American Journal of Human Genetics |
| van der Made CI, Simons A, Schuurs-Hoeijmakers J, et al. (2020) Presence of Genetic Variants Among Young Men With Severe COVID-19. Jama |
| van de Putte R, Dworschak GC, Brosens E, et al. (2020) A Genetics-First Approach Revealed Monogenic Disorders in Patients With ARM and VACTERL Anomalies. Frontiers in Pediatrics. 8: 310 |
| Klein M, Singgih EL, van Rens A, et al. (2020) Contribution of Intellectual Disability-Related Genes to ADHD Risk and to Locomotor Activity in . The American Journal of Psychiatry. appiajp201918050599 |