Han Brunner

Brunner, Han
Name:
Prof. Han Brunner 

Function:
Full Professor

Theme:
Genetic & Epigenetic Pathways of Disease


Profile

Research interests include the molecular basis of congenital malformations and their implications in understanding developmental processes. Current projects focus on disease gene identification by linkage mapping and next generation sequencing. In collaboration with researchers at the CMBI, new bioinformatics approaches to the classification of phenotypes and their application to candidate gene identification for multifactorial diseases are developed.

Han Brunner is professor of medical genetics and head of the department of human genetics at the Radboud University Nijmegen Medical Centre.

Recent key publications

  • Hoischen A, van Bon BW, Rodríguez-Santiago B, Gilissen C, Vissers LE,deVries P, Janssen I, van Lier B, Hastings R, Smithson SF, Newbury-Ecob R, Kjaergaard S, Goodship J, McGowan R, Bartholdi D, Rauch A, Peippo M, Cobben JM, Wieczorek D, Gillessen-Kaesbach G, Veltman JA, Brunner HG,deVries BB. De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome. Nat Genet. 43:729-31, 2011.

  • Kalay E, Yigit G, Aslan Y, Brown KE, Pohl E, Bicknell LS, Kayserili H, Li Y, Tüysüz B, Nürnberg G, Kiess W, Koegl M, Baessmann I, Buruk K, Toraman B, Kayipmaz S, Kul S, Ikbal M, Turner DJ, Taylor MS, Aerts J, Scott C, Milstein K, Dollfus H, Wieczorek D, Brunner HG, Hurles M, Jackson AP, Rauch A, Nürnberg P, Karagüzel A, Wollnik B. CEP152 is a genome maintenance protein disrupted in Seckel syndrome. Nat Genet. 43:23-6, 2011.

  • Vissers LE, deLigt J, Gilissen C, Janssen I, Steehouwer M, deVries P, van Lier B, Arts P, Wieskamp N, del Rosario M, van Bon BW, Hoischen A,deVries BB, Brunner HG, Veltman JA. A de novo paradigm for mental retardation. Nat Genet. 42:1109-12, 2010.

  • Hoischen A, van Bon BW, Gilissen C, Arts P, van Lier B, Steehouwer M, de Vries P, de Reuver R, Wieskamp N, Mortier G, Devriendt K, Amorim MZ, Revencu N, Kidd A, Barbosa M, Turner A, Smith J, Oley C, Henderson A, Hayes IM, Thompson EM, Brunner HG, de Vries BB, Veltman JA. De novo mutations in SETBP1 cause Schinzel-Giedion syndrome. Nat Genet. 42:483-5, 2010.

  • Oti M, Huynen MA, Brunner HG. The biological coherence of human phenome databases. Am J Hum Genet. 85:801-8, 2009.

Keywords:  Congenital disorders / Intellectual disability / Rare disease /


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