H
Han G. Brunner
Researcher at Radboud University Nijmegen
Publications - 520
Citations - 55192
Han G. Brunner is an academic researcher from Radboud University Nijmegen. The author has contributed to research in topics: Gene & Missense mutation. The author has an hindex of 111, co-authored 486 publications receiving 49421 citations. Previous affiliations of Han G. Brunner include Radboud University Nijmegen Medical Centre & Maastricht University.
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Journal ArticleDOI
LDL Receptor-Related Protein 5 (LRP5) Affects Bone Accrual and Eye Development
Yaoqin Gong,R. B. Slee,Naomi Fukai,Georges Rawadi,Sergio Roman-Roman,Anthony M. Reginato,H. W. Wang,Tim Cundy,Francis H. Glorieux,Dorit Lev,M. Zacharin,Konrad Oexle,Jose Marcelino,Wafaa M. Suwairi,Shauna Heeger,G. Sabatakos,Suneel S. Apte,W. N. Adkins,J. Allgrove,M. Arslan-Kirchner,J. A. Batch,Peter Beighton,Graeme C.M. Black,R. G. Boles,L. M. Boon,C. Borrone,Han G. Brunner,G. F. Carle,Bruno Dallapiccola,A. De Paepe,B. Floege,M. L. Halfhide,Barbara Hall,Raoul C.M. Hennekam,Tatsuo Hirose,A. Jans,Harald Jüppner,Chong Ae Kim,K. Keppler-Noreuil,A. Kohlschuetter,Didier Lacombe,M. Lambert,E. Lemyre,T. Letteboer,Leena Peltonen,Rajkumar Ramesar,M. Romanengo,H. Somer,E. Steichen-Gersdorf,Beat Steinmann,Beth A. Sullivan,Andrea Superti-Furga,W. Swoboda,M. J. van den Boogaard,W. Van Hul,Miikka Vikkula,Marcela Votruba,Bernhard Zabel,Teresa Garcia,Roland Baron,Bjorn R. Olsen,Matthew L. Warman +61 more
TL;DR: It is reported that LRP5, encoding the low-density lipoprotein receptor-related protein 5, affects bone mass accrual during growth and is important for the establishment of peak bone mass.
Journal ArticleDOI
Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome.
Marco Tartaglia,Marco Tartaglia,Ernest L. Mehler,Rosalie Goldberg,Giuseppe Zampino,Han G. Brunner,Hannie Kremer,Ineke van der Burgt,Andrew H. Crosby,Andra Ion,Steve Jeffery,Kamini Kalidas,Michael A. Patton,Raju Kucherlapati,Bruce D. Gelb +14 more
TL;DR: It is shown that missense mutations in PTPN11—a gene encoding the nonreceptor protein tyrosine phosphatase SHP-2, which contains two Src homology 2 (SH2) domains—cause Noonan syndrome and account for more than 50% of the cases that were examined.
Journal ArticleDOI
Abnormal behavior associated with a point mutation in the structural gene for monoamine oxidase A
TL;DR: Analytical results indicate that isolated complete MAOA deficiency in this family is associated with a recognizable behavioral phenotype that includes disturbed regulation of impulsive aggression.
Journal ArticleDOI
Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability
Joep de Ligt,Marjolein H. Willemsen,Bregje W.M. van Bon,Tjitske Kleefstra,Helger G. Yntema,Thessa Kroes,Anneke T. Vulto-van Silfhout,David A. Koolen,Petra de Vries,Christian Gilissen,Marisol del Rosario,Alexander Hoischen,Hans Scheffer,Bert B.A. de Vries,Han G. Brunner,Joris A. Veltman,Lisenka E.L.M. Vissers +16 more
TL;DR: De novo mutations represent an important cause of intellectual disability; exome sequencing was used as an effective diagnostic strategy for their detection.
Journal ArticleDOI
Mutations in a new member of the chromodomain gene family cause CHARGE syndrome.
Lisenka E.L.M. Vissers,Conny M.A. van Ravenswaaij,Ronald J.C. Admiraal,Jane A. Hurst,Bert B.A. de Vries,Irene M. Janssen,Walter van der Vliet,Erik Huys,Pieter J. de Jong,Ben C.J. Hamel,Eric F.P.M. Schoenmakers,Han G. Brunner,Joris A. Veltman,Ad Geurts van Kessel +13 more
TL;DR: The authors reported a 2.3-Mb de novo overlapping microdeletion on chromosome 8q12 identified by array comparative genomic hybridization in two individuals with CHARGE syndrome.