Human Genetics

This research group studies all genetic aspects with a focus on patient observation, and the translation of clinical questions in short term research projects.

Han Brunner is regarded as one of the leading figures in the scientific understanding of the connections between clinical and molecular features of rare diseases, including applications to patient care. He has pioneered the discovery of a large number of disease genes, and the application of cutting-edge genomic technologies (genomic microarrays, exome sequencing, and whole genome sequencing) to discover the causes of genetic diseases. Much of this work focuses on neurodevelopmental conditions such as intellectual disability and abnormal behavior. Prof Brunner has published more than 300 articles in peer-reviewed journals, which have been cited > 20.000 times. Prof Brunner was elected member of the Royal Netherlands Academy of Arts and Sciences in 2013, and of the Academia Europea in 2012. He is a Knight in the Order of the Dutch Lion since 2013.

Key publications in 2018

• CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language. Nature Communications, 9, [4619]. DOI: 10.1038/s41467-018-06014-6
• Verdonschot, J. A. J., Hazebroek, M. R., Wang, P., Sanders-van Wijk, S., Merken, J. J., Adriaansen, Y. A., Heymans, S. R. B. (2018).Clinical Phenotype and Genotype Associations With Improvement in Left Ventricular Function in Dilated Cardiomyopathy.Circulation-Heart Failure, 11(11), [005220]. DOI:10.1161/CIRC HEART FAILURE.118.005220
• NBEA: Developmental disease gene with early generalized epilepsy phenotypes. Annals of Neurology, 84(5), 788-795. DOI: 10.1002/ana.25350
• De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation. Nature Genetics, 50(10), 1442-+. DOI: 10.1038/s41588-018-0220-y
• De novo mutations in the SET nuclear proto-oncogene, encoding a component of the inhibitor of histone acetyltransferases (INHAT) complex in patients with nonsyndromic intellectual disability. Human Mutation, 39(7), 1014-1023. DOI: 10.1002/humu.23541
• De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder. American Journal of Human Genetics, 102(6), 1195-1203. DOI: 10.1016/j.ajhg.2018.04.014
• Barbosa, M., Joshi, R. S., Garg, P., Martin-Trujillo, A., Patel, N., Jadhav, B., ... Sharp, A. J. (2018). Identification of rare de novo epigenetic variations in congenital disorders. Nature Communications, 9, [2064]. DOI: 10.1038/s41467-018-04540-x
• A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis. American Journal of Human Genetics, 102(5), 995-1007. DOI: 10.1016/j.ajhg.2018.03.005
• De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder. Human Genetics, 137(5), 375-388. DOI: 10.1007/s00439-018-1887-y

For a list of all publications see PubMed

Key prizes and grants

• German Society of Human Genetics: Medal of Honour in 2018 (Han Brunner)
• 17 m Euros for Netherlands X omics Initiative (National Roadmap for Large-Scale Research Facilities)