Henri G. Brunner - Publications#

Publications: 275 + 13 Reviews
Citations: 14.884
H-index: 70

Key papers:

One of the first examples of spontaneous mutation correction in humans (83 citations)
Brunner HG, Jansen G, Nillesen W, Nelen MR, de Die CEM, Höweler CJ, van Oost BA, Wieringa B, Ropers HH, Smeets HJM. Brief report: Reverse mutation in myotonic dystrophy. New Engl J Med 328:476-480, 1993

The first truly behavioral mutation in humans (cited 670 times)
Brunner HG, Nelen M, Breakefield XO, Ropers HH, van Oost BA. Abnormal behavior associated with a point mutation in the structural gene for monoamine oxidase A. Science 262:578-580, 1993 included in all text books on the genetic basis of (human) behavior. Television documentaries on BBC, National Geographic (2012), Japanese Television, Austrian National television, Dutch national Television and others.

COGNOMICS, an interdisciplinary collaboration between cognitive neuroscientists, brain imaging specialists, and human geneticists from Nijmegen aims to uncover the molecular and neurobioogical underpinnings of cognition. This was started in 2008, and recently spawned its first major paper in the context of a large multinational consortium:
Stein JL, et al. Identification of common variants associated with human hippocampal and intracranial volumes. Nat Genet. 2012

The Brunner group has been leading in the application of genomic arrays to the understanding of intellectual disability and to ttranslate this research into effective medical diagnosis:
De Vries BBA, et al. Diagnostic genome profiling in mental retardation. Am J Hum Genet. 77:606-616, 2005 Cited 298 times
Koolen DA, et al. A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism. Nat Genet. 38: 999-1001, 2006. Cited 188 times.
Koolen DA, et al. Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome. Nat Genet. 2012

Breakthrough paper that established de novo mutations as a common cause of intellectual disability and possibly of other neurodevelopmental disorders such as schizophrenia and autism. Cited 46 times in 2011:
Vissers LE, de Ligt J, Gilissen C, Janssen I, Steehouwer M, de Vries P, van Lier B, Arts P, Wieskamp N, del Rosario M, van Bon BW, Hoischen A, de Vries BB, Brunner HG, Veltman JA. A de novo paradigm for mental retardation. Nat Genet. 42:1109-1112, 2010
and several other similar findings from the Brunner group:
Hoischen A, et al. De novo mutations of SETBP1 cause Schinzel-Giedion syndrome. Nat Genet. 42:483-485, 2010
Hoischen A, et al. De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome. Nat Genet. 43:729-31, 2011
Rivière JB, et al. . De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome. Nat Genet. 2012

SELECTED PUBLICATIONS:

• Brunner HG, Nelen M, Breakefield XO, Ropers HH, van Oost BA. Abnormal behavior associated with a point mutation in the structural gene for monoamine oxidase A. Science 262:578-580, 1993
  
• Brunner HG, Jansen G, Nillesen W, Nelen MR, de Die CEM, Höweler CJ, Wieringa B, Ropers HH, Smeets HJM. Reverse mutation in myotonic dystrophy. New Engl J Med 328:476-480, 1993
  
• Kremer H, Kraaij R, Toledo SPA, Post M, Fridman JB, Hayashi¬da CB, van Reen M, Milgrom E, Ropers HH, Mariman E, Themmen APN, Brunner HG (1995) Male pseudo¬hermaphroditism due to a homozygous missense mutation of the luteinizing hormone receptor gene. Nature Genet 9:160-164
  
• Vikkula M, Mariman ECM, Lui VCH, Zhidkova NI, Tiller GE, Goldring MB, van Beersum SEC, de Waal Malefijt MC, van den Hoogen FHJ, Ropers HH, Mayne R, Cheah KSE, Olsen BR, Warman ML, Brunner HG. Autosomal dominant and recessi¬ve osteochondrodysplasias associated with the Col11A2 locus. Cell 80:431-437, 1995
  
• Lenders JWM, Eisenhofer G, Abeling NGGM, Berger W, Murphy DL, Konings CH, Bleeker Wagemakers LM, Kopin IJ, Karoum F, van Gennip AH, Brunner HG. Specific genetic deficiencies of the A and B isoenzymes of monoamine oxidase are characterized by distinct neurochemical and clinical phenoty¬pes. J Clin Invest 97:1010-1019, 1996
  
• Celli J, Duijf P, Hamel BCJ, Bamshad M, Kramer B, Smits APT, Newbury-Ecob R, Hennekam RC, van Buggenhout G, van Haeringen A, Woods CG, van Essen AJ, de Waal R, Vriend G, Haber DA, Yang A, McKeon F, Brunner HG, van Bokhoven H. Heterozygous germline mutations in the P53 homolog P63 are the cause of EEC syndrome. Cell 99:143-153, 1999
  
• van Bokhoven H, Celli J, Kayserili H, van Beusekom E, Balci S, Brussel W, Skovby F, Kerr B, Percin EF, Akarsu N, Brunner HG. Mutation of the gene encoding the ROR2 receptor tyrosine kinase causes autosomal recessive Robinow syndrome. Nature Genetics 25:423-426, 2000
  
• Van Bokhoven H, Hamel BCJ, Bamshad M, Sangiorgi E, Gurrieri F, Duijf PHG, Vanmolkot KRJ, van Beusekom E, van Beersum SEC, Celli J, Merkx GFM, Tenconi R, Fryns JP, Verloes A, Newbury-Ecob RA, Raas-Rotschild A, Majewski F, Beemer FA, Janecke A, Chitayat D, Crisponi G, Kayserili H, Yates JRW, Neri G, Brunner HG. p63 Gene Mutations in EEC Syndrome, Limb-Mammary Syndrome, and Isolated Split Hand Split Foot Malformation Suggest a Genotype-Phenotype Correlation. Am J Hum Genet 69: 481-92, 2001
  
• Tartaglia M, Mehler EL, Goldberg R, Zampino G, Brunner HG, Kremer H, van der Burgt I, Crosby AH, Ion A, Jeffery S, Kalidas K, Patton MA, Kucherlapati RS, Gelb BD. Mutations in the protein tyrosine phosphatase gene, PTPN11, cause Noonan syndrome. Nat Genet. 29: 465-468, 2001.
  
• Beltrán-Valero de Bernabé B, Currier S, Steinbrecher S, Celli J, van Beusekom E, Kayserili H, Merlini L, Chitayat D, Dobyns DW, Cormand B, Lehesjoki AE, Voit T, Walsh CA, van Bokhoven H, Brunner HG. Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome Am J Hum Genet 71:1033-1043, 2002
  
• Brunner HG, van Driel M. From syndrome families to functional genomics. Nature Reviews Genetics 5:547-553, 2004
  
• Vissers LE, Van Ravenswaaij CM, Admiraal R, Hurst JA, De Vries BB, Janssen IM, Van Der Vliet WA, Huys EH, De Jong PJ, Hamel BC, Schoenmakers EF, Brunner HG, Veltman JA, Van Kessel AG. Mutations in a new member of the chromodomain gene family cause CHARGE syndrome. Nat Genet 36:955-957, 2004.
  
• van Bokhoven H, Celli J, van Reeuwijk J, Rinne T, Glaudemans B, van Beusekom B, Rieu P, Newbury-Ecob RA, Chiang C, Brunner HG. MYCN haploinsufficiency is associated with reduced brain size and intestinal atresias in Feingold syndrome. Nature Genetics 37:465-467, 2005
  
• Kleefstra T, Brunner HG, Amiel J, Oudakker AR, Nillesen WM, Magee A, Genevieve D, Cormier-Daire V, van Esch H, Fryns JP, Hamel BC, Sistermans EA, de Vries BB, van Bokhoven H. Loss-of-Function Mutations in Euchromatin Histone Methyl Transferase 1 (EHMT1) Cause the 9q34 Subtelomeric Deletion Syndrome. Am J Hum Genet. 79:370-377, 2006
  
• Rohmann E, Brunner HG, Kayserili H, Uyguner O, Nürnberg G, Lew ED, Dobbie A, Eswarakumar VP, Uzumcu A, Ulubil-Emeroglu M, Leroy JG, Li Y, Becker C, Lehnerdt K, Cremers CWRJ, Yuksel-Apak M, Nürnberg P, Kubisch C, Schlessinger J, van Bokhoven H, Wollnik B. Mutations in different components of FGF-signalling in LADD syndrome. Nature Genetics. 38:414 – 417, 2006
  
• Koolen DA, Vissers LELM, Pfundt R, de Leeuw N, Knight SJL, Regan R, Kooy FR, Reyniers E, Romano C, Fichera M, Schinzel A, Baumer A, Anderlid BM, Schoumans J, Knoers NV, Geurts van Kessel A, Sistermans EA, Veltman JA, Brunner HG, de Vries BBA. A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism. Nat Genet. 38: 999-1001, 2006.
  
• Oti M, Huynen MA, Brunner HG. Phenome connections. Trends Genet. 24, 103-106, 2008
  
• Ligtenberg MJ, Kuiper RP, Chan TL, Goossens M, Hebeda KM, Voorendt M, Lee TY, Bodmer D, Hoenselaar E, Hendriks-Cornelissen SJ, Tsui WY, Kong CK, Brunner HG, van Kessel AG, Yuen ST, van Krieken JH, Leung SY, Hoogerbrugge N. Heritable somatic methylation and inactivation of MSH2 in families with Lynch syndrome due to deletion of the 3' exons of TACSTD1. Nat Genet. 2009 Jan;41(1):112-7.
  
• Oti M, Huynen MA, Han G. Brunner HG. The Biological Coherence of Human Phenome Databases. Am J Hum Genet 85:801-808, 2009
  
• Hoischen A, W M van Bon BWM, 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 BBA, *Veltman JA. De novo mutations of SETBP1 cause Schinzel-Giedion syndrome. Nat Genet. 42:483-485, 2010
  
• Veltman JA, Brunner HG. Understanding variable expressivity in microdeletion syndromes.Nat Genet 42:192-193, 2010
  
• Gilissen C, Arts HH, Hoischen A, Spruijt L, Mans DA, Arts P, van Lier B, Steehouwer M, van Reeuwijk J, Kant SG, Roepman R, Knoers NV, Veltman JA, Brunner HG. Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome. Am J Hum Genet. 2010 Sep 10;87(3):418-23.
  
• Vissers LE, de Ligt J, Gilissen C, Janssen I, Steehouwer M, de Vries P, van Lier B, Arts P, Wieskamp N, del Rosario M, van Bon BW, Hoischen A, de Vries BB, Brunner HG, Veltman JA. A de novo paradigm for mental retardation. Nat Genet. 42:1109-1112, 2010
  
• Hoischen A, et al. De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome. Nat Genet. 43:729-31, 2011. Kalay E, et al. CEP152 is a genome maintenance protein disrupted in Seckel syndrome. Nat Genet. 43:23-26, 2011
  
• Jacquemont S, et al. Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus. Nature. 478:97-102, 2011
  
• Rivière JB, et al. De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome. Nat Genet. 2012
  
• Stein JL, et al. Identification of common variants associated with human hippocampal and intracranial volumes. Nat Genet. 2012
  
• Koolen DA, et al. Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome. Nat Genet. 2012