Han G. Brunner
Radboud University Nijmegen(NL)Maastricht University Medical Centre(NL)Radboud University Medical Center(NL)
Publications by Year
Research Areas
Genomics and Rare Diseases, Genomic variations and chromosomal abnormalities, Cancer Genomics and Diagnostics, RNA modifications and cancer, BRCA gene mutations in cancer
Most-Cited Works
- → Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus(2011)475 cited
- → Clinical and Molecular Phenotype of Aicardi-Goutières Syndrome(2007)445 cited
- → Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2(2007)374 cited
- → Baraitser–Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases(2014)172 cited
- → Cantú Syndrome Is Caused by Mutations in ABCC9(2012)166 cited
- → Recessive DNAH9 Loss-of-Function Mutations Cause Laterality Defects and Subtle Respiratory Ciliary-Beating Defects(2018)138 cited