Han G. Brunner - Publications

Affiliations: 
Human genetics Radboud University Nijmegen, Nijmegen, Gelderland, Netherlands 
Area:
medical genetics
Website:
http://www.nbic.nl/about-nbic/nbic-faculty/details/prof-dr-han-g-brunner/

238 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2017 Ghofrani M, Yahyaei M, Brunner HG, Cremers FP, Movasat M, Imran Khan M, Keramatipour M. Homozygosity Mapping and Targeted Sanger Sequencing Identifies Three Novel CRB1 (Cumbs homologue 1) Mutations in Iranian Retinal Degeneration Families Iranian Biomedical Journal. PMID 28460491  0.44
2016 Paulussen AD, Steyls A, Vanoevelen J, van Tienen FH, Krapels IP, Claes GR, Chocron S, Velter C, Tan-Sindhunata GM, Lundin C, Valenzuela I, Nagy B, Bache I, Maroun LL, Avela K, ... Brunner HG, et al. Rare novel variants in the ZIC3 gene cause X-linked heterotaxy. European Journal of Human Genetics : Ejhg. PMID 27406248 DOI: 10.1038/ejhg.2016.91  0.6
2016 White JJ, Mazzeu JF, Hoischen A, Bayram Y, Withers M, Gezdirici A, Kimonis V, Steehouwer M, Jhangiani SN, Muzny DM, Gibbs RA, van Bon BW, Sutton VR, Lupski JR, ... Brunner HG, et al. DVL3 Alleles Resulting in a -1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow Syndrome. American Journal of Human Genetics. PMID 26924530 DOI: 10.1016/j.ajhg.2016.01.005  0.6
2015 Sollis E, Graham SA, Vino A, Froehlich H, Vreeburg M, Dimitropoulou D, Gilissen C, Pfundt R, Rappold GA, Brunner HG, Deriziotis P, Fisher SE. Identification and functional characterization of de novo FOXP1 variants provides novel insights into the etiology of neurodevelopmental disorder. Human Molecular Genetics. PMID 26647308 DOI: 10.1093/hmg/ddv495  0.6
2015 Burrage LC, Charng WL, Eldomery MK, Willer JR, Davis EE, Lugtenberg D, Zhu W, Leduc MS, Akdemir ZC, Azamian M, Zapata G, Hernandez PP, Schoots J, de Munnik SA, Roepman R, ... ... Brunner HG, et al. De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome. American Journal of Human Genetics. 97: 904-13. PMID 26637980 DOI: 10.1016/j.ajhg.2015.11.006  0.6
2015 Sie AS, Spruijt L, van Zelst-Stams WA, Mensenkamp AR, Ligtenberg MJ, Brunner HG, Prins JB, Hoogerbrugge N. High Satisfaction and Low Distress in Breast Cancer Patients One Year after BRCA-Mutation Testing without Prior Face-to-Face Genetic Counseling. Journal of Genetic Counseling. PMID 26531312 DOI: 10.1007/s10897-015-9899-4  0.6
2015 Claes GR, van Tienen FH, Lindsey P, Krapels IP, Helderman-van den Enden AT, Hoos MB, Barrois YE, Janssen JW, Paulussen AD, Sels JE, Kuijpers SH, van Tintelen JP, van den Berg MP, Heesen WF, Garcia-Pavia P, ... ... Brunner HG, et al. Hypertrophic remodelling in cardiac regulatory myosin light chain (MYL2) founder mutation carriers. European Heart Journal. PMID 26497160 DOI: 10.1093/eurheartj/ehv522  0.6
2015 de Munnik SA, Hoefsloot EH, Roukema J, Schoots J, Knoers NV, Brunner HG, Jackson AP, Bongers EM. Meier-Gorlin syndrome. Orphanet Journal of Rare Diseases. 10: 114. PMID 26381604 DOI: 10.1186/s13023-015-0322-x  0.6
2015 Koolen DA, Pfundt R, Linda K, Beunders G, Veenstra-Knol HE, Conta JH, Fortuna AM, Gillessen-Kaesbach G, Dugan S, Halbach S, Abdul-Rahman OA, Winesett HM, Chung WK, Dalton M, Dimova PS, ... ... Brunner HG, et al. The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant. European Journal of Human Genetics : Ejhg. PMID 26306646 DOI: 10.1038/ejhg.2015.178  0.6
2015 Snijders Blok L, Madsen E, Juusola J, Gilissen C, Baralle D, Reijnders MR, Venselaar H, Helsmoortel C, Cho MT, Hoischen A, Vissers LE, Koemans TS, Wissink-Lindhout W, Eichler EE, Romano C, ... ... Brunner H, et al. Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling. American Journal of Human Genetics. PMID 26235985 DOI: 10.1016/j.ajhg.2015.07.004  0.6
2015 Marchegiani S, Davis T, Tessadori F, van Haaften G, Brancati F, Hoischen A, Huang H, Valkanas E, Pusey B, Schanze D, Venselaar H, Vulto-van Silfhout AT, Wolfe LA, Tifft CJ, Zerfas PM, ... ... Brunner HG, et al. Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes. American Journal of Human Genetics. PMID 26119818 DOI: 10.1016/j.ajhg.2015.05.017  0.6
2015 Tomas-Roca L, Tsaalbi-Shtylik A, Jansen JG, Singh MK, Epstein JA, Altunoglu U, Verzijl H, Soria L, van Beusekom E, Roscioli T, Iqbal Z, Gilissen C, Hoischen A, de Brouwer AP, Erasmus C, ... ... Brunner H, et al. De novo mutations in PLXND1 and REV3L cause Möbius syndrome. Nature Communications. 6: 7199. PMID 26068067 DOI: 10.1038/ncomms8199  0.6
2015 White J, Mazzeu JF, Hoischen A, Jhangiani SN, Gambin T, Alcino MC, Penney S, Saraiva JM, Hove H, Skovby F, Kayserili H, Estrella E, Vulto-van Silfhout AT, Steehouwer M, Muzny DM, ... ... Brunner HG, et al. DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome. American Journal of Human Genetics. 96: 612-22. PMID 25817016 DOI: 10.1016/j.ajhg.2015.02.015  0.6
2015 Bunn KJ, Daniel P, Rösken HS, O'Neill AC, Cameron-Christie SR, Morgan T, Brunner HG, Lai A, Kunst HP, Markie DM, Robertson SP. Mutations in DVL1 cause an osteosclerotic form of Robinow syndrome. American Journal of Human Genetics. 96: 623-30. PMID 25817014 DOI: 10.1016/j.ajhg.2015.02.010  0.6
2015 Carvalho CM, Pfundt R, King DA, Lindsay SJ, Zuccherato LW, Macville MV, Liu P, Johnson D, Stankiewicz P, Brown CW, Shaw CA, Hurles ME, Ira G, Hastings PJ, ... Brunner HG, et al. Absence of heterozygosity due to template switching during replicative rearrangements. American Journal of Human Genetics. 96: 555-64. PMID 25799105 DOI: 10.1016/j.ajhg.2015.01.021  0.6
2015 Tylki-Szyma?ska A, Acuna-Hidalgo R, Krajewska-Walasek M, Lecka-Ambroziak A, Steehouwer M, Gilissen C, Brunner HG, Jurecka A, Ró?d?y?ska-?wi?tkowska A, Hoischen A, Chrzanowska KH. Thyroid hormone resistance syndrome due to mutations in the thyroid hormone receptor α gene (THRA). Journal of Medical Genetics. 52: 312-6. PMID 25670821 DOI: 10.1136/jmedgenet-2014-102936  0.6
2015 Vulto-van Silfhout AT, Nakagawa T, Bahi-Buisson N, Haas SA, Hu H, Bienek M, Vissers LE, Gilissen C, Tzschach A, Busche A, Müsebeck J, Rump P, Mathijssen IB, Avela K, Somer M, ... ... Brunner HG, et al. Variants in CUL4B are associated with cerebral malformations. Human Mutation. 36: 106-17. PMID 25385192 DOI: 10.1002/humu.22718  0.72
2015 van de Putte R, Wijers CH, de Blaauw I, Feitz WF, Marcelis CL, Hakobjan M, Sloots CE, van Bever Y, Brunner HG, Roeleveld N, van Rooij IA, van der Zanden LF. Sequencing of the DKK1 gene in patients with anorectal malformations and hypospadias. European Journal of Pediatrics. 174: 583-7. PMID 25319845 DOI: 10.1007/s00431-014-2436-x  0.6
2015 Verloes A, Di Donato N, Masliah-Planchon J, Jongmans M, Abdul-Raman OA, Albrecht B, Allanson J, Brunner H, Bertola D, Chassaing N, David A, Devriendt K, Eftekhari P, Drouin-Garraud V, Faravelli F, et al. Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases. European Journal of Human Genetics : Ejhg. 23: 292-301. PMID 25052316 DOI: 10.1038/ejhg.2014.95  0.6
2015 Vissers LE, Bonetti M, Paardekooper Overman J, Nillesen WM, Frints SG, de Ligt J, Zampino G, Justino A, Machado JC, Schepens M, Brunner HG, Veltman JA, Scheffer H, Gros P, Costa JL, et al. Heterozygous germline mutations in A2ML1 are associated with a disorder clinically related to Noonan syndrome. European Journal of Human Genetics : Ejhg. 23: 317-24. PMID 24939586 DOI: 10.1038/ejhg.2014.115  0.6
2015 Roifman M, Marcelis CL, Paton T, Marshall C, Silver R, Lohr JL, Yntema HG, Venselaar H, Kayserili H, van Bon B, Seaward G, Brunner HG, Chitayat D. De novo WNT5A-associated autosomal dominant Robinow syndrome suggests specificity of genotype and phenotype. Clinical Genetics. 87: 34-41. PMID 24716670 DOI: 10.1111/cge.12401  0.64
2014 Wijers CH, van Rooij IA, Marcelis CL, Brunner HG, de Blaauw I, Roeleveld N. Genetic and nongenetic etiology of nonsyndromic anorectal malformations: a systematic review. Birth Defects Research. Part C, Embryo Today : Reviews. 102: 382-400. PMID 25546370 DOI: 10.1002/bdrc.21068  0.6
2014 Ockeloen CW, Willemsen MH, de Munnik S, van Bon BW, de Leeuw N, Verrips A, Kant SG, Jones EA, Brunner HG, van Loon RL, Smeets EE, van Haelst MM, van Haaften G, Nordgren A, Malmgren H, et al. Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations. European Journal of Human Genetics : Ejhg. PMID 25424714 DOI: 10.1038/ejhg.2014.253  0.6
2014 Sie AS, Brunner HG, Hoogerbrugge N. Easy-to-use decision aids for improved cancer family history collection and use among oncology practices. Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology. 32: 3343. PMID 25185092 DOI: 10.1200/JCO.2014.56.2942  0.6
2014 Umi?evi? Mirkov M, Janss L, Vermeulen SH, van de Laar MA, van Riel PL, Guchelaar HJ, Brunner HG, Albers CA, Coenen MJ. Estimation of heritability of different outcomes for genetic studies of TNFi response in patients with rheumatoid arthritis. Annals of the Rheumatic Diseases. PMID 25114059 DOI: 10.1136/annrheumdis-2014-205541  0.6
2014 Gilissen C, Hehir-Kwa JY, Thung DT, van de Vorst M, van Bon BW, Willemsen MH, Kwint M, Janssen IM, Hoischen A, Schenck A, Leach R, Klein R, Tearle R, Bo T, Pfundt R, ... ... Brunner HG, et al. Genome sequencing identifies major causes of severe intellectual disability. Nature. 511: 344-7. PMID 24896178 DOI: 10.1038/nature13394  0.6
2014 Wijers CH, de Blaauw I, Zwink N, Draaken M, van der Zanden LF, Brunner HG, Brooks AS, Hofstra RM, Sloots CE, Broens PM, Wijnen MH, Ludwig M, Jenetzky E, Reutter H, Marcelis CL, et al. No major role for periconceptional folic acid use and its interaction with the MTHFR C677T polymorphism in the etiology of congenital anorectal malformations. Birth Defects Research. Part a, Clinical and Molecular Teratology. 100: 483-92. PMID 24841934 DOI: 10.1002/bdra.23256  0.6
2014 Vulto-van Silfhout AT, Rajamanickam S, Jensik PJ, Vergult S, de Rocker N, Newhall KJ, Raghavan R, Reardon SN, Jarrett K, McIntyre T, Bulinski J, Ownby SL, Huggenvik JI, McKnight GS, Rose GM, ... ... Brunner HG, et al. Mutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problems. American Journal of Human Genetics. 94: 649-61. PMID 24726472 DOI: 10.1016/j.ajhg.2014.03.013  0.6
2014 Oud MM, van Bon BW, Bongers EM, Hoischen A, Marcelis CL, de Leeuw N, Mol SJ, Mortier G, Knoers NV, Brunner HG, Roepman R, Arts HH. Early presentation of cystic kidneys in a family with a homozygous INVS mutation. American Journal of Medical Genetics. Part A. 164: 1627-34. PMID 24677454 DOI: 10.1002/ajmg.a.36501  0.6
2014 Kaiser FJ, Ansari M, Braunholz D, Concepción Gil-Rodríguez M, Decroos C, Wilde JJ, Fincher CT, Kaur M, Bando M, Amor DJ, Atwal PS, Bahlo M, Bowman CM, Bradley JJ, Brunner HG, et al. Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance. Human Molecular Genetics. 23: 2888-900. PMID 24403048 DOI: 10.1093/hmg/ddu002  0.6
2014 Thompson PM, Stein JL, Medland SE, Hibar DP, Vasquez AA, Renteria ME, Toro R, Jahanshad N, Schumann G, Franke B, Wright MJ, Martin NG, Agartz I, Alda M, Alhusaini S, ... ... Brunner HG, et al. The ENIGMA Consortium: large-scale collaborative analyses of neuroimaging and genetic data. Brain Imaging and Behavior. 8: 153-82. PMID 24399358 DOI: 10.1007/s11682-013-9269-5  0.6
2014 Smigiel R, Marcelis C, Patkowski D, de Leeuw N, Bednarczyk D, Barg E, Mascianica K, Maria Sasiadek M, Brunner H. Oesophageal atresia with tracheoesophageal fistula and anal atresia in a patient with a de novo microduplication in 17q12. European Journal of Medical Genetics. 57: 40-3. PMID 24239950 DOI: 10.1016/j.ejmg.2013.10.007  0.6
2014 de Munnik SA, García-Miñaúr S, Hoischen A, van Bon BW, Boycott KM, Schoots J, Hoefsloot LH, Knoers NV, Bongers EM, Brunner HG. A de novo non-sense mutation in ZBTB18 in a patient with features of the 1q43q44 microdeletion syndrome. European Journal of Human Genetics : Ejhg. 22: 844-6. PMID 24193349 DOI: 10.1038/ejhg.2013.249  0.6
2014 Sie AS, van Zelst-Stams WA, Spruijt L, Mensenkamp AR, Ligtenberg MJ, Brunner HG, Prins JB, Hoogerbrugge N. More breast cancer patients prefer BRCA-mutation testing without prior face-to-face genetic counseling. Familial Cancer. 13: 143-51. PMID 24068317 DOI: 10.1007/s10689-013-9686-z  0.6
2014 Gardeitchik T, Mohamed M, Fischer B, Lammens M, Lefeber D, Lace B, Parker M, Kim KJ, Lim BC, Häberle J, Garavelli L, Jagadeesh S, Kariminejad A, Guerra D, Leão M, ... ... Brunner H, et al. Clinical and biochemical features guiding the diagnostics in neurometabolic cutis laxa. European Journal of Human Genetics : Ejhg. 22: 888-95. PMID 23963297 DOI: 10.1038/ejhg.2013.154  0.6
2014 de Ligt J, Boone PM, Pfundt R, Vissers LELM, de Leeuw N, Shaw C, Brunner HG, Lupski JR, Veltman JA, Hehir-Kwa JY. Platform comparison of detecting copy number variants with microarrays and whole-exome sequencing Genomics Data. 2: 144-146. DOI: 10.1016/j.gdata.2014.06.009  0.6
2013 Venselaar H, Camilli F, Gholizadeh S, Snelleman M, Brunner HG, Vriend G. Status quo of annotation of human disease variants. Bmc Bioinformatics. 14: 352. PMID 24305467 DOI: 10.1186/1471-2105-14-352  0.6
2013 Oortveld MA, Keerthikumar S, Oti M, Nijhof B, Fernandes AC, Kochinke K, Castells-Nobau A, van Engelen E, Ellenkamp T, Eshuis L, Galy A, van Bokhoven H, Habermann B, Brunner HG, Zweier C, et al. Human intellectual disability genes form conserved functional modules in Drosophila. Plos Genetics. 9: e1003911. PMID 24204314 DOI: 10.1371/journal.pgen.1003911  0.6
2013 Schuurs-Hoeijmakers JH, Vulto-van Silfhout AT, Vissers LE, van de Vondervoort II, van Bon BW, de Ligt J, Gilissen C, Hehir-Kwa JY, Neveling K, del Rosario M, Hira G, Reitano S, Vitello A, Failla P, Greco D, ... ... Brunner HG, et al. Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing. Journal of Medical Genetics. 50: 802-11. PMID 24123876 DOI: 10.1136/jmedgenet-2013-101644  0.6
2013 Neveling K, Feenstra I, Gilissen C, Hoefsloot LH, Kamsteeg EJ, Mensenkamp AR, Rodenburg RJ, Yntema HG, Spruijt L, Vermeer S, Rinne T, van Gassen KL, Bodmer D, Lugtenberg D, de Reuver R, ... ... Brunner HG, et al. A post-hoc comparison of the utility of sanger sequencing and exome sequencing for the diagnosis of heterogeneous diseases. Human Mutation. 34: 1721-6. PMID 24123792 DOI: 10.1002/humu.22450  0.6
2013 Vulto-van Silfhout AT, Hehir-Kwa JY, van Bon BW, Schuurs-Hoeijmakers JH, Meader S, Hellebrekers CJ, Thoonen IJ, de Brouwer AP, Brunner HG, Webber C, Pfundt R, de Leeuw N, de Vries BB. Clinical significance of de novo and inherited copy-number variation. Human Mutation. 34: 1679-87. PMID 24038936 DOI: 10.1002/humu.22442  0.6
2013 de Ligt J, Boone PM, Pfundt R, Vissers LE, Richmond T, Geoghegan J, O'Moore K, de Leeuw N, Shaw C, Brunner HG, Lupski JR, Veltman JA, Hehir-Kwa JY. Detection of clinically relevant copy number variants with whole-exome sequencing. Human Mutation. 34: 1439-48. PMID 23893877 DOI: 10.1002/humu.22387  0.6
2013 Voigt C, Mégarbané A, Neveling K, Czeschik JC, Albrecht B, Callewaert B, von Deimling F, Hehr A, Falkenberg Smeland M, König R, Kuechler A, Marcelis C, Puiu M, Reardon W, Riise Stensland HM, ... ... Brunner HG, et al. Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - expanding the phenotypes associated with EFTUD2 mutations. Orphanet Journal of Rare Diseases. 8: 110. PMID 23879989 DOI: 10.1186/1750-1172-8-110  0.6
2013 Willemsen MH, Nijhof B, Fenckova M, Nillesen WM, Bongers EM, Castells-Nobau A, Asztalos L, Viragh E, van Bon BW, Tezel E, Veltman JA, Brunner HG, de Vries BB, de Ligt J, Yntema HG, et al. GATAD2B loss-of-function mutations cause a recognisable syndrome with intellectual disability and are associated with learning deficits and synaptic undergrowth in Drosophila. Journal of Medical Genetics. 50: 507-14. PMID 23644463 DOI: 10.1136/jmedgenet-2012-101490  0.6
2013 Nikkel SM, Dauber A, de Munnik S, Connolly M, Hood RL, Caluseriu O, Hurst J, Kini U, Nowaczyk MJ, Afenjar A, Albrecht B, Allanson JE, Balestri P, Ben-Omran T, Brancati F, ... ... Brunner H, et al. The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP. Orphanet Journal of Rare Diseases. 8: 63. PMID 23621943 DOI: 10.1186/1750-1172-8-63  0.6
2013 Stránecký V, Hoischen A, Hartmannová H, Zaki MS, Chaudhary A, Zudaire E, Nosková L, Barešová V, P?istoupilová A, Hoda?ová K, Sovová J, H?lková H, Piherová L, Hehir-Kwa JY, de Silva D, ... ... Brunner HG, et al. Mutations in ANTXR1 cause GAPO syndrome. American Journal of Human Genetics. 92: 792-9. PMID 23602711 DOI: 10.1016/j.ajhg.2013.03.023  0.6
2013 Stiff T, Alagoz M, Alcantara D, Outwin E, Brunner HG, Bongers EM, O'Driscoll M, Jeggo PA. Deficiency in origin licensing proteins impairs cilia formation: implications for the aetiology of Meier-Gorlin syndrome. Plos Genetics. 9: e1003360. PMID 23516378 DOI: 10.1371/journal.pgen.1003360  0.6
2013 Vulto-van Silfhout AT, de Vries BB, van Bon BW, Hoischen A, Ruiterkamp-Versteeg M, Gilissen C, Gao F, van Zwam M, Harteveld CL, van Essen AJ, Hamel BC, Kleefstra T, Willemsen MA, Yntema HG, van Bokhoven H, ... Brunner HG, et al. Mutations in MED12 cause X-linked Ohdo syndrome. American Journal of Human Genetics. 92: 401-6. PMID 23395478 DOI: 10.1016/j.ajhg.2013.01.007  0.6
2013 Twigg SR, Babbs C, van den Elzen ME, Goriely A, Taylor S, McGowan SJ, Giannoulatou E, Lonie L, Ragoussis J, Sadighi Akha E, Knight SJ, Zechi-Ceide RM, Hoogeboom JA, Pober BR, Toriello HV, ... ... Brunner HG, et al. Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes. Human Molecular Genetics. 22: 1654-62. PMID 23335590 DOI: 10.1093/hmg/ddt015  0.6
2013 Makrythanasis P, van Bon BW, Steehouwer M, Rodríguez-Santiago B, Simpson M, Dias P, Anderlid BM, Arts P, Bhat M, Augello B, Biamino E, Bongers EM, Del Campo M, Cordeiro I, Cueto-González AM, ... ... Brunner HG, et al. MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study. Clinical Genetics. 84: 539-45. PMID 23320472 DOI: 10.1111/cge.12081  0.64
2013 UmiÄ‹eviÄ‹ Mirkov M, Cui J, Vermeulen SH, Stahl EA, Toonen EJ, Makkinje RR, Lee AT, Huizinga TW, Allaart R, Barton A, Mariette X, Miceli CR, Criswell LA, Tak PP, de Vries N, ... ... Brunner HG, et al. Genome-wide association analysis of anti-TNF drug response in patients with rheumatoid arthritis. Annals of the Rheumatic Diseases. 72: 1375-81. PMID 23233654 DOI: 10.1136/annrheumdis-2012-202405  0.6
2012 Schuurs-Hoeijmakers JH, Geraghty MT, Kamsteeg EJ, Ben-Salem S, de Bot ST, Nijhof B, van de Vondervoort II, van der Graaf M, Nobau AC, Otte-Höller I, Vermeer S, Smith AC, Humphreys P, Schwartzentruber J, ... ... Brunner HG, et al. Mutations in DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegia. American Journal of Human Genetics. 91: 1073-81. PMID 23176823 DOI: 10.1016/j.ajhg.2012.10.017  0.6
2012 Schuurs-Hoeijmakers JH, Oh EC, Vissers LE, Swinkels ME, Gilissen C, Willemsen MA, Holvoet M, Steehouwer M, Veltman JA, de Vries BB, van Bokhoven H, de Brouwer AP, Katsanis N, Devriendt K, Brunner HG. Recurrent de novo mutations in PACS1 cause defective cranial-neural-crest migration and define a recognizable intellectual-disability syndrome. American Journal of Human Genetics. 91: 1122-7. PMID 23159249 DOI: 10.1016/j.ajhg.2012.10.013  0.6
2012 de Ligt J, Willemsen MH, van Bon BW, Kleefstra T, Yntema HG, Kroes T, Vulto-van Silfhout AT, Koolen DA, de Vries P, Gilissen C, del Rosario M, Hoischen A, Scheffer H, de Vries BB, Brunner HG, et al. Diagnostic exome sequencing in persons with severe intellectual disability. The New England Journal of Medicine. 367: 1921-9. PMID 23033978 DOI: 10.1056/NEJMoa1206524  0.6
2012 de Munnik SA, Otten BJ, Schoots J, Bicknell LS, Aftimos S, Al-Aama JY, van Bever Y, Bober MB, Borm GF, Clayton-Smith J, Deal CL, Edrees AY, Feingold M, Fryer A, van Hagen JM, ... ... Brunner HG, et al. Meier-Gorlin syndrome: growth and secondary sexual development of a microcephalic primordial dwarfism disorder. American Journal of Medical Genetics. Part A. 158: 2733-42. PMID 23023959 DOI: 10.1002/ajmg.a.35681  0.6
2012 Brunner HG. The variability of genetic disease. The New England Journal of Medicine. 367: 1350-2. PMID 22970918 DOI: 10.1056/NEJMe1209699  0.6
2012 Vulto-van Silfhout AT, de Brouwer AF, de Leeuw N, Obihara CC, Brunner HG, de Vries BB. A 380-kb Duplication in 7p22.3 Encompassing the LFNG Gene in a Boy with Asperger Syndrome. Molecular Syndromology. 2: 245-250. PMID 22822384 DOI: 10.1159/000336191  0.64
2012 Veltman JA, Brunner HG. De novo mutations in human genetic disease. Nature Reviews. Genetics. 13: 565-75. PMID 22805709 DOI: 10.1038/nrg3241  0.6
2012 Lindsay ME, Schepers D, Bolar NA, Doyle JJ, Gallo E, Fert-Bober J, Kempers MJ, Fishman EK, Chen Y, Myers L, Bjeda D, Oswald G, Elias AF, Levy HP, Anderlid BM, ... ... Brunner HG, et al. Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm. Nature Genetics. 44: 922-7. PMID 22772368 DOI: 10.1038/ng.2349  0.6
2012 Kleefstra T, Kramer JM, Neveling K, Willemsen MH, Koemans TS, Vissers LE, Wissink-Lindhout W, Fenckova M, van den Akker WM, Kasri NN, Nillesen WM, Prescott T, Clark RD, Devriendt K, van Reeuwijk J, ... ... Brunner HG, et al. Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability. American Journal of Human Genetics. 91: 73-82. PMID 22726846 DOI: 10.1016/j.ajhg.2012.05.003  0.6
2012 van Bon BW, Gilissen C, Grange DK, Hennekam RC, Kayserili H, Engels H, Reutter H, Ostergaard JR, Morava E, Tsiakas K, Isidor B, Le Merrer M, Eser M, Wieskamp N, de Vries P, ... ... Brunner HG, et al. Cantú syndrome is caused by mutations in ABCC9. American Journal of Human Genetics. 90: 1094-101. PMID 22608503 DOI: 10.1016/j.ajhg.2012.04.014  0.6
2012 Sie AS, Spruijt L, van Zelst-Stams WA, Mensenkamp AR, Ligtenberg MJ, Brunner HG, Prins JB, Hoogerbrugge N. DNA-testing for BRCA1/2 prior to genetic counselling in patients with breast cancer: design of an intervention study, DNA-direct. Bmc Women's Health. 12: 12. PMID 22569005 DOI: 10.1186/1472-6874-12-12  0.6
2012 Koolen DA, Kramer JM, Neveling K, Nillesen WM, Moore-Barton HL, Elmslie FV, Toutain A, Amiel J, Malan V, Tsai AC, Cheung SW, Gilissen C, Verwiel ET, Martens S, Feuth T, ... ... Brunner HG, et al. Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome. Nature Genetics. 44: 639-41. PMID 22544363 DOI: 10.1038/ng.2262  0.6
2012 Roscioli T, Kamsteeg EJ, Buysse K, Maystadt I, van Reeuwijk J, van den Elzen C, van Beusekom E, Riemersma M, Pfundt R, Vissers LE, Schraders M, Altunoglu U, Buckley MF, Brunner HG, Grisart B, et al. Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan. Nature Genetics. 44: 581-5. PMID 22522421 DOI: 10.1038/ng.2253  0.6
2012 Willemsen MH, Vissers LE, Willemsen MA, van Bon BW, Kroes T, de Ligt J, de Vries BB, Schoots J, Lugtenberg D, Hamel BC, van Bokhoven H, Brunner HG, Veltman JA, Kleefstra T. Mutations in DYNC1H1 cause severe intellectual disability with neuronal migration defects. Journal of Medical Genetics. 49: 179-83. PMID 22368300 DOI: 10.1136/jmedgenet-2011-100542  0.6
2012 Rivière JB, van Bon BW, Hoischen A, Kholmanskikh SS, O'Roak BJ, Gilissen C, Gijsen S, Sullivan CT, Christian SL, Abdul-Rahman OA, Atkin JF, Chassaing N, Drouin-Garraud V, Fry AE, Fryns JP, ... ... Brunner HG, et al. De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome. Nature Genetics. 44: 440-4, S1-2. PMID 22366783 DOI: 10.1038/ng.1091  0.6
2012 Hoogman M, Rijpkema M, Janss L, Brunner H, Fernandez G, Buitelaar J, Franke B, Arias-Vásquez A. Current self-reported symptoms of attention deficit/hyperactivity disorder are associated with total brain volume in healthy adults. Plos One. 7: e31273. PMID 22348063 DOI: 10.1371/journal.pone.0031273  0.6
2012 de Munnik SA, Bicknell LS, Aftimos S, Al-Aama JY, van Bever Y, Bober MB, Clayton-Smith J, Edrees AY, Feingold M, Fryer A, van Hagen JM, Hennekam RC, Jansweijer MC, Johnson D, Kant SG, ... ... Brunner HG, et al. Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis. European Journal of Human Genetics : Ejhg. 20: 598-606. PMID 22333897 DOI: 10.1038/ejhg.2011.269  0.6
2012 Thompson MD, Roscioli T, Marcelis C, Nezarati MM, Stolte-Dijkstra I, Sharom FJ, Lu P, Phillips JA, Sweeney E, Robinson PN, Krawitz P, Yntema HG, Andrade DM, Brunner HG, Cole DE. Phenotypic variability in hyperphosphatasia with seizures and neurologic deficit (Mabry syndrome). American Journal of Medical Genetics. Part A. 158: 553-8. PMID 22315194 DOI: 10.1002/ajmg.a.35202  0.6
2012 Landsbergen KM, Prins JB, Brunner HG, van Duijvendijk P, Nagengast FM, van Krieken JH, Ligtenberg M, Hoogerbrugge N. Psychological distress in newly diagnosed colorectal cancer patients following microsatellite instability testing for Lynch syndrome on the pathologist's initiative. Familial Cancer. 11: 259-67. PMID 22311584 DOI: 10.1007/s10689-012-9510-1  0.6
2012 Simpson MA, Deshpande C, Dafou D, Vissers LE, Woollard WJ, Holder SE, Gillessen-Kaesbach G, Derks R, White SM, Cohen-Snuijf R, Kant SG, Hoefsloot LH, Reardon W, Brunner HG, Bongers EM, et al. De novo mutations of the gene encoding the histone acetyltransferase KAT6B cause Genitopatellar syndrome. American Journal of Human Genetics. 90: 290-4. PMID 22265017 DOI: 10.1016/j.ajhg.2011.11.024  0.6
2012 Gilissen C, Hoischen A, Brunner HG, Veltman JA. Disease gene identification strategies for exome sequencing. European Journal of Human Genetics : Ejhg. 20: 490-7. PMID 22258526 DOI: 10.1038/ejhg.2011.258  0.6
2012 Conceição Pereira M, Loureiro JL, Pinto-Basto J, Brandão E, Margarida Lopes A, Neves G, Dias P, Geraldes R, Martins IP, Cruz VT, Kamsteeg EJ, Brunner HG, Coutinho P, Sequeiros J, Alonso I. Alu elements mediate large SPG11 gene rearrangements: further spatacsin mutations. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 14: 143-51. PMID 22237444 DOI: 10.1038/gim.2011.7  0.6
2011 Feenstra I, Vissers LE, Pennings RJ, Nillessen W, Pfundt R, Kunst HP, Admiraal RJ, Veltman JA, van Ravenswaaij-Arts CM, Brunner HG, Cremers CW. Disruption of teashirt zinc finger homeobox 1 is associated with congenital aural atresia in humans. American Journal of Human Genetics. 89: 813-9. PMID 22152683 DOI: 10.1016/j.ajhg.2011.11.008  0.6
2011 Vissers LE, Fano V, Martinelli D, Campos-Xavier B, Barbuti D, Cho TJ, Dursun A, Kim OH, Lee SH, Timpani G, Nishimura G, Unger S, Sass JO, Veltman JA, Brunner HG, et al. Whole-exome sequencing detects somatic mutations of IDH1 in metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria (MC-HGA). American Journal of Medical Genetics. Part A. 155: 2609-16. PMID 22025298 DOI: 10.1002/ajmg.a.34325  0.6
2011 Marcelis C, de Blaauw I, Brunner H. Chromosomal anomalies in the etiology of anorectal malformations: A review American Journal of Medical Genetics, Part A. 155: 2692-2704. PMID 21990113 DOI: 10.1002/ajmg.a.34253  0.6
2011 Hwang CS, Sukalo M, Batygin O, Addor MC, Brunner H, Aytes AP, Mayerle J, Song HK, Varshavsky A, Zenker M. Ubiquitin ligases of the N-end rule pathway: assessment of mutations in UBR1 that cause the Johanson-Blizzard syndrome. Plos One. 6: e24925. PMID 21931868 DOI: 10.1371/journal.pone.0024925  0.6
2011 Gilissen C, Hoischen A, Brunner HG, Veltman JA. Unlocking Mendelian disease using exome sequencing. Genome Biology. 12: 228. PMID 21920049 DOI: 10.1186/gb-2011-12-9-228  0.6
2011 Jacquemont S, Reymond A, Zufferey F, Harewood L, Walters RG, Kutalik Z, Martinet D, Shen Y, Valsesia A, Beckmann ND, Thorleifsson G, Belfiore M, Bouquillon S, Campion D, de Leeuw N, ... ... Brunner HG, et al. Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus. Nature. 478: 97-102. PMID 21881559 DOI: 10.1038/nature10406  0.6
2011 Wright EM, Suri M, White SM, de Leeuw N, Vulto-van Silfhout AT, Stewart F, McKee S, Mansour S, Connell FC, Chopra M, Kirk EP, Devriendt K, Reardon W, Brunner H, Donnai D. Pierpont syndrome: a collaborative study. American Journal of Medical Genetics. Part A. 155: 2203-11. PMID 21834056 DOI: 10.1002/ajmg.a.34147  0.6
2011 Rainger J, van Beusekom E, Ramsay JK, McKie L, Al-Gazali L, Pallotta R, Saponari A, Branney P, Fisher M, Morrison H, Bicknell L, Gautier P, Perry P, Sokhi K, Sexton D, ... ... Brunner HG, et al. Loss of the BMP antagonist, SMOC-1, causes Ophthalmo-acromelic (Waardenburg Anophthalmia) syndrome in humans and mice. Plos Genetics. 7: e1002114. PMID 21750680 DOI: 10.1371/journal.pgen.1002114  0.6
2011 Bralten J, Arias-Vásquez A, Makkinje R, Veltman JA, Brunner HG, Fernández G, Rijpkema M, Franke B. Association of the Alzheimer's gene SORL1 with hippocampal volume in young, healthy adults. The American Journal of Psychiatry. 168: 1083-9. PMID 21730226 DOI: 10.1176/appi.ajp.2011.10101509  0.6
2011 Bralten J, Franke B, Arias-Vásquez A, Heister A, Brunner HG, Fernández G, Rijpkema M. CR1 genotype is associated with entorhinal cortex volume in young healthy adults. Neurobiology of Aging. 32: 2106.e7-11. PMID 21726919 DOI: 10.1016/j.neurobiolaging.2011.05.017  0.6
2011 Feenstra I, Hanemaaijer N, Sikkema-Raddatz B, Yntema H, Dijkhuizen T, Lugtenberg D, Verheij J, Green A, Hordijk R, Reardon W, Vries Bd, Brunner H, Bongers E, Leeuw Nd, van Ravenswaaij-Arts C. Balanced into array: genome-wide array analysis in 54 patients with an apparently balanced de novo chromosome rearrangement and a meta-analysis. European Journal of Human Genetics : Ejhg. 19: 1152-60. PMID 21712853 DOI: 10.1038/ejhg.2011.120  0.6
2011 Hoischen A, van Bon BW, Rodríguez-Santiago B, Gilissen C, Vissers LE, de Vries P, Janssen I, van Lier B, Hastings R, Smithson SF, Newbury-Ecob R, Kjaergaard S, Goodship J, McGowan R, Bartholdi D, ... ... Brunner HG, et al. De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome. Nature Genetics. 43: 729-31. PMID 21706002 DOI: 10.1038/ng.868  0.6
2011 Vissers LE, Lausch E, Unger S, Campos-Xavier AB, Gilissen C, Rossi A, Del Rosario M, Venselaar H, Knoll U, Nampoothiri S, Nair M, Spranger J, Brunner HG, Bonafé L, Veltman JA, et al. Chondrodysplasia and abnormal joint development associated with mutations in IMPAD1, encoding the Golgi-resident nucleotide phosphatase, gPAPP. American Journal of Human Genetics. 88: 608-15. PMID 21549340 DOI: 10.1016/j.ajhg.2011.04.002  0.6
2011 Arts HH, Bongers EM, Mans DA, van Beersum SE, Oud MM, Bolat E, Spruijt L, Cornelissen EA, Schuurs-Hoeijmakers JH, de Leeuw N, Cormier-Daire V, Brunner HG, Knoers NV, Roepman R. C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome. Journal of Medical Genetics. 48: 390-5. PMID 21378380 DOI: 10.1136/jmg.2011.088864  0.6
2011 van Bon BW, Hoischen A, Hehir-Kwa J, de Brouwer AP, Ruivenkamp C, Gijsbers AC, Marcelis CL, de Leeuw N, Veltman JA, Brunner HG, de Vries BB. Intragenic deletion in DYRK1A leads to mental retardation and primary microcephaly. Clinical Genetics. 79: 296-9. PMID 21294719 DOI: 10.1111/j.1399-0004.2010.01544.x  0.6
2011 Verhoeven W, Egger J, Brunner H, de Leeuw N. A patient with a de novo distal 22q11.2 microdeletion and anxiety disorder. American Journal of Medical Genetics. Part A. 155: 392-7. PMID 21271660 DOI: 10.1002/ajmg.a.33802  0.6
2011 van Bon BW, Balciuniene J, Fruhman G, Nagamani SC, Broome DL, Cameron E, Martinet D, Roulet E, Jacquemont S, Beckmann JS, Irons M, Potocki L, Lee B, Cheung SW, Patel A, ... ... Brunner HG, et al. The phenotype of recurrent 10q22q23 deletions and duplications. European Journal of Human Genetics : Ejhg. 19: 400-8. PMID 21248748 DOI: 10.1038/ejhg.2010.211  0.6
2011 Schuurs-Hoeijmakers JH, Hehir-Kwa JY, Pfundt R, van Bon BW, de Leeuw N, Kleefstra T, Willemsen MA, van Kessel AG, Brunner HG, Veltman JA, van Bokhoven H, de Brouwer AP, de Vries BB. Homozygosity mapping in outbred families with mental retardation. European Journal of Human Genetics : Ejhg. 19: 597-601. PMID 21248743 DOI: 10.1038/ejhg.2010.167  0.6
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, ... ... Brunner HG, et al. CEP152 is a genome maintenance protein disrupted in Seckel syndrome. Nature Genetics. 43: 23-6. PMID 21131973 DOI: 10.1038/ng.725  0.6
2011 Landsbergen KM, Prins JB, Brunner HG, Hoogerbrugge N. Shortened time interval between colorectal cancer diagnosis and risk testing for hereditary colorectal cancer is not related to higher psychological distress. Familial Cancer. 10: 51-7. PMID 20853153 DOI: 10.1007/s10689-010-9387-9  0.6
2010 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. Nature Genetics. 42: 1109-12. PMID 21076407 DOI: 10.1038/ng.712  0.6
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. American Journal of Human Genetics. 87: 418-23. PMID 20817137 DOI: 10.1016/j.ajhg.2010.08.004  0.6
2010 Kouwenhoven EN, van Heeringen SJ, Tena JJ, Oti M, Dutilh BE, Alonso ME, de la Calle-Mustienes E, Smeenk L, Rinne T, Parsaulian L, Bolat E, Jurgelenaite R, Huynen MA, Hoischen A, Veltman JA, ... Brunner HG, et al. Genome-wide profiling of p63 DNA-binding sites identifies an element that regulates gene expression during limb development in the 7q21 SHFM1 locus. Plos Genetics. 6: e1001065. PMID 20808887 DOI: 10.1371/journal.pgen.1001065  0.6
2010 Krawitz PM, Schweiger MR, Rödelsperger C, Marcelis C, Kölsch U, Meisel C, Stephani F, Kinoshita T, Murakami Y, Bauer S, Isau M, Fischer A, Dahl A, Kerick M, Hecht J, ... ... Brunner HG, et al. Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome. Nature Genetics. 42: 827-9. PMID 20802478 DOI: 10.1038/ng.653  0.6
2010 Wijers CH, de Blaauw I, Marcelis CL, Wijnen RM, Brunner H, Midrio P, Gamba P, Clementi M, Jenetzky E, Zwink N, Reutter H, Bartels E, Grasshoff-Derr S, Holland-Cunz S, Hosie S, et al. Research perspectives in the etiology of congenital anorectal malformations using data of the International Consortium on Anorectal Malformations: evidence for risk factors across different populations. Pediatric Surgery International. 26: 1093-9. PMID 20730541 DOI: 10.1007/s00383-010-2688-0  0.6
2010 Smit DJ, Luciano M, Bartels M, van Beijsterveldt CE, Wright MJ, Hansell NK, Brunner HG, Estourgie-van Burk GF, de Geus EJ, Martin NG, Boomsma DI. Heritability of head size in Dutch and Australian twin families at ages 0-50 years. Twin Research and Human Genetics : the Official Journal of the International Society For Twin Studies. 13: 370-80. PMID 20707707 DOI: 10.1375/twin.13.4.370  0.6
2010 Ott CE, Leschik G, Trotier F, Brueton L, Brunner HG, Brussel W, Guillen-Navarro E, Haase C, Kohlhase J, Kotzot D, Lane A, Lee-Kirsch MA, Morlot S, Simon ME, Steichen-Gersdorf E, et al. Deletions of the RUNX2 gene are present in about 10% of individuals with cleidocranial dysplasia. Human Mutation. 31: E1587-93. PMID 20648631 DOI: 10.1002/humu.21298  0.6
2010 de Bruijn DR, van Dijk AH, Pfundt R, Hoischen A, Merkx GF, Gradek GA, Lybæk H, Stray-Pedersen A, Brunner HG, Houge G. Severe Progressive Autism Associated with Two de novo Changes: A 2.6-Mb 2q31.1 Deletion and a Balanced t(14;21)(q21.1;p11.2) Translocation with Long-Range Epigenetic Silencing of LRFN5 Expression. Molecular Syndromology. 1: 46-57. PMID 20648246 DOI: 10.1159/000280290  0.64
2010 Franke B, Vasquez AA, Veltman JA, Brunner HG, Rijpkema M, Fernández G. Genetic variation in CACNA1C, a gene associated with bipolar disorder, influences brainstem rather than gray matter volume in healthy individuals. Biological Psychiatry. 68: 586-8. PMID 20638048 DOI: 10.1016/j.biopsych.2010.05.037  0.6
2010 Sharp AJ, Migliavacca E, Dupre Y, Stathaki E, Sailani MR, Baumer A, Schinzel A, Mackay DJ, Robinson DO, Cobellis G, Cobellis L, Brunner HG, Steiner B, Antonarakis SE. Methylation profiling in individuals with uniparental disomy identifies novel differentially methylated regions on chromosome 15. Genome Research. 20: 1271-8. PMID 20631049 DOI: 10.1101/gr.108597.110  0.6
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, ... ... Brunner HG, et al. De novo mutations of SETBP1 cause Schinzel-Giedion syndrome. Nature Genetics. 42: 483-5. PMID 20436468 DOI: 10.1038/ng.581  0.6
2010 Hehir-Kwa JY, Wieskamp N, Webber C, Pfundt R, Brunner HG, Gilissen C, de Vries BB, Ponting CP, Veltman JA. Accurate distinction of pathogenic from benign CNVs in mental retardation. Plos Computational Biology. 6: e1000752. PMID 20421931 DOI: 10.1371/journal.pcbi.1000752  0.6
2010 Van Reeuwijk J, Olderode-Berends MJ, Van den Elzen C, Brouwer OF, Roscioli T, Van Pampus MG, Scheffer H, Brunner HG, Van Bokhoven H, Hol FA. A homozygous FKRP start codon mutation is associated with Walker-Warburg syndrome, the severe end of the clinical spectrum. Clinical Genetics. 78: 275-81. PMID 20236121 DOI: 10.1111/j.1399-0004.2010.01384.x  0.64
2010 Veltman JA, Brunner HG. Understanding variable expressivity in microdeletion syndromes. Nature Genetics. 42: 192-3. PMID 20179732 DOI: 10.1038/ng0310-192  0.6
2010 Mazzeu JF, Vianna-Morgante AM, Krepischi AC, Oudakker A, Rosenberg C, Szuhai K, McGill J, Maccraughan J, van Bokhoven H, Brunner HG. Deletions encompassing 1q41q42.1 and clinical features of autosomal dominant Robinow syndrome. Clinical Genetics. 77: 404-7. PMID 20095987 DOI: 10.1111/j.1399-0004.2009.01355.x  0.64
2010 Landsbergen KM, Prins JB, Kamm YJ, Brunner HG, Hoogerbrugge N. Female BRCA mutation carriers with a preference for prophylactic mastectomy are more likely to participate an educational-support group and to proceed with the preferred intervention within 2 years. Familial Cancer. 9: 213-20. PMID 19967456 DOI: 10.1007/s10689-009-9311-3  0.6
2010 Verhoeven WM, Tuinier S, Kuijpers HJ, Egger JI, Brunner HG. Psychiatric profile in rubinstein-taybi syndrome. A review and case report. Psychopathology. 43: 63-8. PMID 19940543 DOI: 10.1159/000260045  0.64
2010 Person AD, Beiraghi S, Sieben CM, Hermanson S, Neumann AN, Robu ME, Schleiffarth JR, Billington CJ, van Bokhoven H, Hoogeboom JM, Mazzeu JF, Petryk A, Schimmenti LA, Brunner HG, Ekker SC, et al. WNT5A mutations in patients with autosomal dominant Robinow syndrome. Developmental Dynamics : An Official Publication of the American Association of Anatomists. 239: 327-37. PMID 19918918 DOI: 10.1002/dvdy.22156  0.6
2010 van Bon BW, Koolen DA, Brueton L, McMullan D, Lichtenbelt KD, Adès LC, Peters G, Gibson K, Moloney S, Novara F, Pramparo T, Dalla Bernardina B, Zoccante L, Balottin U, Piazza F, ... ... Brunner HG, et al. The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype. European Journal of Human Genetics : Ejhg. 18: 163-70. PMID 19809484 DOI: 10.1038/ejhg.2009.152  0.6
2010 Jongmans MC, Pfundt R, Hehir-Kwa JY, Brunner HG, Kerstjens-Frederikse WS. Choanal atresia, syngnathia, brachydactyly, mental retardation and short stature: an X-linked syndrome? Clinical Dysmorphology. 19: 30-2. PMID 19730370 DOI: 10.1097/MCD.0b013e32832d0650  0.6
2010 Friedman JI, Vrijenhoek T, Markx S, Janssen IM, Van Der Vliet WA, Faas BHW, Knoers NV, Cahn W, Kahn RS, Edelmann L, Davis KL, Silverman JM, Brunner HG, Geurts Van Kessel A, Wijmenga C, et al. CNTNAP2 gene dosage variation is associated with schizophrenia and epilepsy (Molecular Psychiatry (2008) 13 (261-266) DOI: 10.1038/sj.mp.4002049) Molecular Psychiatry. 15: 1121. DOI: 10.1038/mp.2010.20  0.64
2009 Landsbergen KM, Prins JB, Brunner HG, Hoogerbrugge N. Genetic testing offered directly after the diagnosis of colorectal cancer: a pilot study on the reactions of patients. Genetic Counseling (Geneva, Switzerland). 20: 317-25. PMID 20162866  0.6
2009 Oti M, Huynen MA, Brunner HG. The biological coherence of human phenome databases. American Journal of Human Genetics. 85: 801-8. PMID 20004759 DOI: 10.1016/j.ajhg.2009.10.026  0.6
2009 Vissers LE, Bhatt SS, Janssen IM, Xia Z, Lalani SR, Pfundt R, Derwinska K, de Vries BB, Gilissen C, Hoischen A, Nesteruk M, Wisniowiecka-Kowalnik B, Smyk M, Brunner HG, Cheung SW, et al. Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture. Human Molecular Genetics. 18: 3579-93. PMID 19578123 DOI: 10.1093/hmg/ddp306  0.6
2009 van Bon BW, Mefford HC, Menten B, Koolen DA, Sharp AJ, Nillesen WM, Innis JW, de Ravel TJ, Mercer CL, Fichera M, Stewart H, Connell LE, Ounap K, Lachlan K, Castle B, ... ... Brunner HG, et al. Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome. Journal of Medical Genetics. 46: 511-23. PMID 19372089 DOI: 10.1136/jmg.2008.063412  0.64
2009 Lacbawan F, Solomon BD, Roessler E, El-Jaick K, Domené S, Vélez JI, Zhou N, Hadley D, Balog JZ, Long R, Fryer A, Smith W, Omar S, McLean SD, Clarkson K, ... ... Brunner HG, et al. Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function. Journal of Medical Genetics. 46: 389-98. PMID 19346217 DOI: 10.1136/jmg.2008.063818  0.64
2009 Landsbergen KM, Prins JB, Brunner HG, Kraaimaat FW, Hoogerbrugge N. Genetic testing for Lynch syndrome in the first year of colorectal cancer: a review of the psychological impact. Familial Cancer. 8: 325-37. PMID 19330464 DOI: 10.1007/s10689-009-9239-7  0.6
2009 Kleefstra T, van Zelst-Stams WA, Nillesen WM, Cormier-Daire V, Houge G, Foulds N, van Dooren M, Willemsen MH, Pfundt R, Turner A, Wilson M, McGaughran J, Rauch A, Zenker M, Adam MP, ... ... Brunner HG, et al. Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype. Journal of Medical Genetics. 46: 598-606. PMID 19264732 DOI: 10.1136/jmg.2008.062950  0.64
2009 Ben-Shachar S, Khajavi M, Withers MA, Shaw CA, Van Bokhoven H, Brunner HG, Lupski JR. Dominant versus recessive traits conveyed by allelic mutations - To what extent is nonsense-mediated decay involved? Clinical Genetics. 75: 394-400. PMID 19236432 DOI: 10.1111/j.1399-0004.2008.01114.x  0.64
2009 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, et al. Heritable somatic methylation and inactivation of MSH2 in families with Lynch syndrome due to deletion of the 3' exons of TACSTD1. Nature Genetics. 41: 112-7. PMID 19098912 DOI: 10.1038/ng.283  0.6
2009 Koolen DA, Pfundt R, de Leeuw N, Hehir-Kwa JY, Nillesen WM, Neefs I, Scheltinga I, Sistermans E, Smeets D, Brunner HG, van Kessel AG, Veltman JA, de Vries BB. Genomic microarrays in mental retardation: a practical workflow for diagnostic applications. Human Mutation. 30: 283-92. PMID 19085936 DOI: 10.1002/humu.20883  0.6
2009 Jongmans MC, van Ravenswaaij-Arts CM, Pitteloud N, Ogata T, Sato N, Claahsen-van der Grinten HL, van der Donk K, Seminara S, Bergman JE, Brunner HG, Crowley WF, Hoefsloot LH. CHD7 mutations in patients initially diagnosed with Kallmann syndrome--the clinical overlap with CHARGE syndrome. Clinical Genetics. 75: 65-71. PMID 19021638 DOI: 10.1111/j.1399-0004.2008.01107.x  0.6
2009 Kets CM, Hoogerbrugge N, van Krieken JH, Goossens M, Brunner HG, Ligtenberg MJ. Compound heterozygosity for two MSH2 mutations suggests mild consequences of the initiation codon variant c.1A>G of MSH2. European Journal of Human Genetics : Ejhg. 17: 159-64. PMID 18781192 DOI: 10.1038/ejhg.2008.153  0.6
2008 Vrijenhoek T, Buizer-Voskamp JE, van der Stelt I, Strengman E, Sabatti C, Geurts van Kessel A, Brunner HG, Ophoff RA, Veltman JA. Recurrent CNVs disrupt three candidate genes in schizophrenia patients. American Journal of Human Genetics. 83: 504-10. PMID 18940311 DOI: 10.1016/j.ajhg.2008.09.011  0.6
2008 Koolen DA, Sharp AJ, Hurst JA, Firth HV, Knight SJ, Goldenberg A, Saugier-Veber P, Pfundt R, Vissers LE, Destrée A, Grisart B, Rooms L, Van der Aa N, Field M, Hackett A, ... ... Brunner HG, et al. Clinical and molecular delineation of the 17q21.31 microdeletion syndrome. Journal of Medical Genetics. 45: 710-20. PMID 18628315 DOI: 10.1136/jmg.2008.058701  0.64
2008 Prattichizzo C, Macca M, Novelli V, Giorgio G, Barra A, Franco B, Abdulla F, Abramowicz M, Amy S, Schafer I, Bankier A, White S, Barcina MG, Bartoshesky LE, Jenny K, ... ... Brunner HG, et al. Mutational spectrum of the oral-facial-digital type I syndrome: A study on a large collection of patients Human Mutation. 29: 1237-1246. PMID 18546297 DOI: 10.1002/humu.20792  0.64
2008 Marcelis CL, Hol FA, Graham GE, Rieu PN, Kellermayer R, Meijer RP, Lugtenberg D, Scheffer H, van Bokhoven H, Brunner HG, de Brouwer AP. Genotype-phenotype correlations in MYCN-related Feingold syndrome. Human Mutation. 29: 1125-32. PMID 18470948 DOI: 10.1002/humu.20750  0.6
2008 Oti M, van Reeuwijk J, Huynen MA, Brunner HG. Conserved co-expression for candidate disease gene prioritization. Bmc Bioinformatics. 9: 208. PMID 18433471 DOI: 10.1186/1471-2105-9-208  0.6
2008 Rinne T, Clements SE, Lamme E, Duijf PHG, Bolat E, Meijer R, Scheffer H, Rosser E, Tan TY, Mcgrath JA, Schalkwijk J, Brunner HG, Zhou H, Van Bokhoven H. A novel translation re-initiation mechanism for the p63 gene revealed by amino-terminal truncating mutations in Rapp-Hodgkin/Hay-Wells-like syndromes Human Molecular Genetics. 17: 1968-1977. PMID 18364388 DOI: 10.1093/hmg/ddn094  0.6
2008 Oti M, Huynen MA, Brunner HG. Phenome connections. Trends in Genetics : Tig. 24: 103-6. PMID 18243400 DOI: 10.1016/j.tig.2007.12.005  0.6
2008 van der Hout AH, Oudesluijs GG, Venema A, Verheij JBGM, Mol BGJ, Rump P, Brunner HG, Vos YJ, van Essen AJ. Mutation screening of the Ectodysplasin-A receptor gene EDAR in hypohidrotic ectodermal dysplasia European Journal of Human Genetics. 16: 673-679. PMID 18231121 DOI: 10.1038/sj.ejhg.5202012  0.6
2008 Collin RW, Kalay E, Tariq M, Peters T, van der Zwaag B, Venselaar H, Oostrik J, Lee K, Ahmed ZM, Caylan R, Li Y, Spierenburg HA, Eyupoglu E, Heister A, Riazuddin S, ... ... Brunner HG, et al. Mutations of ESRRB encoding estrogen-related receptor beta cause autosomal-recessive nonsyndromic hearing impairment DFNB35. American Journal of Human Genetics. 82: 125-38. PMID 18179891 DOI: 10.1016/j.ajhg.2007.09.008  0.6
2008 Van Bon BWM, Koolen DA, Borgatti R, Magee A, Garcia-Minaur S, Rooms L, Reardon W, Zollino M, Bonaglia MC, De Gregori M, Novara F, Grasso R, Ciccone R, Van Duyvenvoorde HA, Aalbers AM, ... ... Brunner HG, et al. Clinical and molecular characteristics of 1qter microdeletion syndrome: Delineating a critical region for corpus callosum agenesis/hypogenesis Journal of Medical Genetics. 45: 346-354. PMID 18178631 DOI: 10.1136/jmg.2007.055830  0.64
2008 Rauch A, Thiel CT, Schindler D, Wick U, Crow YJ, Ekici AB, van Essen AJ, Goecke TO, Al-Gazali L, Chrzanowska KH, Zweier C, Brunner HG, Becker K, Curry CJ, Dallapiccola B, et al. Mutations in the pericentrin (PCNT) gene cause primordial dwarfism. Science (New York, N.Y.). 319: 816-9. PMID 18174396 DOI: 10.1126/science.1151174  0.6
2008 Kornak U, Reynders E, Dimopoulou A, Van Reeuwijk J, Fischer B, Rajab A, Budde B, Nürnberg P, Foulquier F, Dobyns WB, Quelhas D, Vilarinho L, Leao-Teles E, Greally M, Seemanova E, ... ... Brunner HG, et al. Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2 Nature Genetics. 40: 32-34. PMID 18157129 DOI: 10.1038/ng.2007.45  0.6
2008 Hoogerbrugge N, Kamm YJL, Bult P, Landsbergen KM, Bongers EMHF, Brunner HG, Bonenkamp HJ, de Hullu JA, Ligtenberg MJL, Boetes C. The impact of a false-positive MRI on the choice for mastectomy in BRCA mutation carriers is limited Annals of Oncology. 19: 655-659. PMID 18096566 DOI: 10.1093/annonc/mdm537  0.64
2008 Jongmans MCJ, Hoefsloot LH, Van Der Donk KP, Admiraal RJ, Magee A, Van De Laar I, Hendriks Y, Verheij JBGM, Walpole I, Brunner HG, Van Ravenswaaij CMA. Familial CHARGE syndrome and the CHD7 gene: A recurrent missense mutation, intrafamilial recurrence and variability American Journal of Medical Genetics, Part A. 146: 43-50. PMID 18074359 DOI: 10.1002/ajmg.a.31921  0.6
2008 Morava E, Lefeber DJ, Urban Z, de Meirleir L, Meinecke P, Gillessen Kaesbach G, Sykut-Cegielska J, Adamowicz M, Salafsky I, Ranells J, Lemyre E, van Reeuwijk J, Brunner HG, Wevers RA. Defining the phenotype in an autosomal recessive cutis laxa syndrome with a combined congenital defect of glycosylation European Journal of Human Genetics. 16: 28-35. PMID 17971833 DOI: 10.1038/sj.ejhg.5201947  0.64
2008 Kets CM, Van Krieken JHJM, Van Erp PEJ, Feuth T, Jacobs YHA, Brunner HG, Ligtenberg MJL, Hoogerbrugge N. Is early-onset microsatellite and chromosomally stable colorectal cancer a hallmark of a genetic susceptibility syndrome? International Journal of Cancer. 122: 796-801. PMID 17957798 DOI: 10.1002/ijc.23121  0.64
2008 Friedman JI, Vrijenhoek T, Markx S, Janssen IM, van der Vliet WA, Faas BH, Knoers NV, Cahn W, Kahn RS, Edelmann L, Davis KL, Silverman JM, Brunner HG, van Kessel AG, Wijmenga C, et al. CNTNAP2 gene dosage variation is associated with schizophrenia and epilepsy. Molecular Psychiatry. 13: 261-6. PMID 17646849 DOI: 10.1038/sj.mp.4002049  0.64
2007 Ferwerda B, McCall MBB, Alonso S, Giamarellos-Bourboulis EJ, Mouktaroudi M, Izagirre N, Syafruddin D, Kibiki G, Cristea T, Hijmans A, Hamann L, Israel S, Elghazali G, Troye-Blomberg M, Kumpf O, ... ... Brunner HG, et al. TLR4 polymorphisms, infectious diseases, and evolutionary pressure during migration of modern humans Proceedings of the National Academy of Sciences of the United States of America. 104: 16645-16650. PMID 17925445 DOI: 10.1073/pnas.0704828104  0.6
2007 White SJ, Vissers LE, Geurts van Kessel A, de Menezes RX, Kalay E, Lehesjoki AE, Giordano PC, van de Vosse E, Breuning MH, Brunner HG, den Dunnen JT, Veltman JA. Variation of CNV distribution in five different ethnic populations. Cytogenetic and Genome Research. 118: 19-30. PMID 17901696 DOI: 10.1159/000106437  0.64
2007 Kalay E, Uzumcu A, Krieger E, Caylan R, Uyguner O, Ulubil-Emiroglu M, Erdol H, Kayserili H, Hafiz G, BaÅŸerer N, Heister AJ, Hennies HC, Nürnberg P, BaÅŸaran S, Brunner HG, et al. MYO15A (DFNB3) mutations in Turkish hearing loss families and functional modeling of a novel motor domain mutation. American Journal of Medical Genetics. Part A. 143: 2382-9. PMID 17853461 DOI: 10.1002/ajmg.a.31937  0.6
2007 Ruiter EM, Koolen DA, Nillesen WM, Pfundt R, de Leeuw N, Hamel BCJ, Brunner HG, Siistermans EA, de Vries BBA. Pure subtelomeric microduplications as a cause of mental retardation Clinical Genetics. 72: 362-368. PMID 17850634 DOI: 10.1111/j.1399-0004.2007.00874.x  0.64
2007 Rice G, Patrick T, Parmar R, Taylor CF, Aeby A, Aicardi J, Artuch R, Montalto SA, Bacino CA, Barroso B, Baxter P, Benko WS, Bergmann C, Bertini E, Biancheri R, ... ... Brunner HG, et al. Clinical and molecular phenotype of Aicardi-Goutieres syndrome. American Journal of Human Genetics. 81: 713-25. PMID 17846997 DOI: 10.1086/521373  0.6
2007 Feenstra I, Vissers LELM, Orsel M, Van Kessel AG, Brunner HG, Veltman JA, Van Ravenswaaij-Arts CMA. Genotype-phenotype mapping of chromosome 18q deletions by high-resolution array CGH: An update of the phenotypic map American Journal of Medical Genetics, Part A. 143: 1858-1867. PMID 17632778 DOI: 10.1002/ajmg.a.31850  0.6
2007 Arts HH, Doherty D, van Beersum SE, Parisi MA, Letteboer SJ, Gorden NT, Peters TA, Märker T, Voesenek K, Kartono A, Ozyurek H, Farin FM, Kroes HY, Wolfrum U, Brunner HG, et al. Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome. Nature Genetics. 39: 882-8. PMID 17558407 DOI: 10.1038/ng2069  0.6
2007 Overbeek LI, Kets CM, Hebeda KM, Bodmer D, van der Looij E, Willems R, Goossens M, Arts N, Brunner HG, van Krieken JH, Hoogerbrugge N, Ligtenberg MJ. Patients with an unexplained microsatellite instable tumour have a low risk of familial cancer. British Journal of Cancer. 96: 1605-12. PMID 17453009 DOI: 10.1038/sj.bjc.6603754  0.64
2007 van Reeuwijk J, Grewal PK, Salih MAM, Beltrán-Valero de Bernabé D, McLaughlan JM, Michielse CB, Herrmann R, Hewitt JE, Steinbrecher A, Seidahmed MZ, Shaheed MM, Abomelha A, Brunner HG, van Bokhoven H, Voit T. Intragenic deletion in the LARGE gene causes Walker-Warburg syndrome Human Genetics. 121: 685-690. PMID 17436019 DOI: 10.1007/s00439-007-0362-y  0.6
2007 Collin RWJ, Kalay E, Oostrik J, Çaylan R, Wollnik B, Arslan S, Den Hollander AI, Birinci Y, Lichtner P, Strom TM, Toraman B, Hoefsloot LH, Cremers CWRJ, Brunner HG, Cremers FPM, et al. Involvement of DFNB59 mutations in autosomal recessive nonsyndromic hearing impairment Human Mutation. 28: 718-723. PMID 17373699 DOI: 10.1002/humu.20510  0.6
2007 Sharp AJ, Selzer RR, Veltman JA, Gimelli S, Gimelli G, Striano P, Coppola A, Regan R, Price SM, Knoers NV, Eis PS, Brunner HG, Hennekam RC, Knight SJ, de Vries BB, et al. Characterization of a recurrent 15q24 microdeletion syndrome. Human Molecular Genetics. 16: 567-72. PMID 17360722 DOI: 10.1093/hmg/ddm016  0.6
2007 Morava E, Bongers EMHF, Kress W, Sie L, Rodenburg R, Heuvel LVD, Brunner HG. Encephalomyopathy and optic atrophy with tall stature and mitochondrial dysfunction: A new syndrome Clinical Dysmorphology. 16: 131-134. PMID 17351361 DOI: 10.1097/MCD.0b013e328014715e  0.6
2007 Marcelis CL, Rieu P, Beemer F, Brunner HG. Severe mental retardation, epilepsy, anal anomalies, and distal phalangeal hypoplasia in siblings Clinical Dysmorphology. 16: 73-76. PMID 17351347 DOI: 10.1097/MCD.0b013e3280147130  0.6
2007 Kalay E, Caylan R, Kiroglu AF, Yasar T, Collin RWJ, Heister JGAM, Oostrik J, Cremers CWRJ, Brunner HG, Karaguzel A, Kremer H. A novel locus for autosomal recessive nonsyndromic hearing impairment, DFNB63, maps to chromosome 11q13.2-q13.4 Journal of Molecular Medicine. 85: 397-404. PMID 17211611 DOI: 10.1007/s00109-006-0136-3  0.6
2007 Oti M, Brunner HG. The modular nature of genetic diseases Clinical Genetics. 71: 1-11. PMID 17204041 DOI: 10.1111/j.1399-0004.2006.00708.x  0.6
2006 Feenstra I, Brunner HG, Van Ravenswaaij CMA. Cytogenetic genotype-phenotype studies: Improving genotyping, phenotyping and data storage Cytogenetic and Genome Research. 115: 231-239. PMID 17124405 DOI: 10.1159/000095919  0.64
2006 Kets CM, Van Krieken JHJM, Hebeda KM, Wezenberg SJ, Goossens M, Brunner HG, Ligtenberg MJL, Hoogerbrugge N. Very low prevalence of germline MSH6 mutations in hereditary non-polyposis colorectal cancer suspected patients with colorectal cancer without microsatellite instability British Journal of Cancer. 95: 1678-1682. PMID 17117178 DOI: 10.1038/sj.bjc.6603478  0.64
2006 Faas BHW, Van Der Deure J, Wunderink M, Merkx G, Brunner HG. Multiple congenital abnormalities in a newborn with two supernumerary marker chromosomes derived from chromosome 14 Genetic Counseling. 17: 349-357. PMID 17100204  0.64
2006 Kets CM, Hoogerbrugge N, Bodmer D, Willems R, Brunner HG, van Krieken JH, Ligtenberg MJ. Unfavorable pathological characteristics in familial colorectal cancer with low-level microsatellite instability. Modern Pathology : An Official Journal of the United States and Canadian Academy of Pathology, Inc. 19: 1624-30. PMID 16980941 DOI: 10.1038/modpathol.3800701  0.6
2006 Michielse CB, Bhat M, Brady A, Jafrid H, van den Hurk JAJM, Raashid Y, Brunner HG, van Bokhoven H, Padberg GW. Refinement of the locus for hereditary congenital facial palsy on chromosome 3q21 in two unrelated families and screening of positional candidate genes European Journal of Human Genetics. 14: 1306-1312. PMID 16912702 DOI: 10.1038/sj.ejhg.5201706  0.6
2006 den Hollander AI, Koenekoop RK, Yzer S, Lopez I, Arends ML, Voesenek KE, Zonneveld MN, Strom TM, Meitinger T, Brunner HG, Hoyng CB, van den Born LI, Rohrschneider K, Cremers FP. Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis. American Journal of Human Genetics. 79: 556-61. PMID 16909394 DOI: 10.1086/507318  0.6
2006 Hoogerbrugge N, Bult P, Bonenkamp JJ, Ligtenberg MJL, Kiemeney LA, de Hullu JA, Boetes C, Niermeijer MF, Brunner HG. Numerous high-risk epithelial lesions in familial breast cancer European Journal of Cancer. 42: 2492-2498. PMID 16908132 DOI: 10.1016/j.ejca.2006.05.027  0.64
2006 Koolen DA, Vissers LELM, Pfundt R, De Leeuw N, Knight SJL, Regan R, Kooy RF, Reyniers E, Romano C, Fichera M, Schinzel A, Baumer A, Anderlid BM, Schoumans J, Knoers NV, ... ... Brunner HG, et al. A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism Nature Genetics. 38: 999-1001. PMID 16906164 DOI: 10.1038/ng1853  0.6
2006 Gutierrez-Roelens I, De Roy L, Ovaert C, Sluysmans T, Devriendt K, Brunner HG, Vikkula M. A novel CSX/NKX2-5 mutation causes autosomal-dominant AV block: Are atrial fibrillation and syncopes part of the phenotype? European Journal of Human Genetics. 14: 1313-1316. PMID 16896344 DOI: 10.1038/sj.ejhg.5201702  0.6
2006 Mukhopadhyay A, Nikopoulos K, Maugeri A, De Brouwer APM, Van Nouhuys CE, Boon CJF, Perveen R, Zegers HAA, Wittebol-Post D, Van Den Biesen PR, Van Der Velde-Visser SD, Brunner HG, Black GCM, Hoyng CB, Cremers FPM. Erosive vitreoretinopathy and wagner disease are caused by intronic mutations in CSPG2/Versican that result in an imbalance of splice variants Investigative Ophthalmology and Visual Science. 47: 3565-3572. PMID 16877430 DOI: 10.1167/iovs.06-0141  0.6
2006 Crow YJ, Hayward BE, Parmar R, Robins P, Leitch A, Ali M, Black DN, van Bokhoven H, Brunner HG, Hamel BC, Corry PC, Cowan FM, Frints SG, Klepper J, Livingston JH, et al. Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus. Nature Genetics. 38: 917-20. PMID 16845398 DOI: 10.1038/ng1845  0.6
2006 Morgan NV, Brueton LA, Cox P, Greally MT, Tolmie J, Pasha S, Aligianis IA, van Bokhoven H, Marton T, Al-Gazali L, Morton JE, Oley C, Johnson CA, Trembath RC, Brunner HG, et al. Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome. American Journal of Human Genetics. 79: 390-5. PMID 16826531 DOI: 10.1086/506256  0.6
2006 Kleefstra T, Brunner HG, Amiel J, Oudakker AR, Nillesen WM, Magee A, Geneviève D, Cormier-Daire V, Van Esch H, Fryns JP, Hamel BCJ, Sistermans EA, De Vries BBA, Van Bokhoven H. Loss-of-function mutations in Euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome American Journal of Human Genetics. 79: 370-377. PMID 16826528 DOI: 10.1086/505693  0.6
2006 Tiffin N, Adie E, Turner F, Brunner HG, van Driel MA, Oti M, Lopez-Bigas N, Ouzounis C, Perez-Iratxeta C, Andrade-Navarro MA, Adeyemo A, Patti ME, Semple CA, Hide W. Computational disease gene identification: a concert of methods prioritizes type 2 diabetes and obesity candidate genes. Nucleic Acids Research. 34: 3067-81. PMID 16757574 DOI: 10.1093/nar/gkl381  0.6
2006 Kalay E, Li Y, Uzumcu A, Uyguner O, Collin RW, Caylan R, Ulubil-Emiroglu M, Kersten FF, Hafiz G, van Wijk E, Kayserili H, Rohmann E, Wagenstaller J, Hoefsloot LH, Strom TM, ... ... Brunner HG, et al. Mutations in the lipoma HMGIC fusion partner-like 5 (LHFPL5) gene cause autosomal recessive nonsyndromic hearing loss. Human Mutation. 27: 633-9. PMID 16752389 DOI: 10.1002/humu.20368  0.6
2006 Rinne T, Spadoni E, Kjaer KW, Danesino C, Larizza D, Kock M, Huoponen K, Savontaus ML, Aaltonen M, Duijf P, Brunner HG, Penttinen M, van Bokhoven H. Delineation of the ADULT syndrome phenotype due to arginine 298 mutations of the p63 gene European Journal of Human Genetics. 14: 904-910. PMID 16724007 DOI: 10.1038/sj.ejhg.5201640  0.6
2006 Rinne T, Hamel B, Van Bokhoven H, Brunner HG. Pattern of p63 mutations and their phenotypes - Update American Journal of Medical Genetics, Part A. 140: 1396-1406. PMID 16691622 DOI: 10.1002/ajmg.a.31271  0.6
2006 Twigg SRF, Matsumoto K, Kidd AMJ, Goriely A, Taylor IB, Fisher RB, Hoogeboom AJM, Mathijssen IMJ, Lourenço MT, Morton JEV, Sweeney E, Wilson LC, Brunner HG, Mulliken JB, Wall SA, et al. The origin of EFNB1 mutations in craniofrontonasal syndrome: Frequent somatic mosaicism and explanation of the paucity of carrier males American Journal of Human Genetics. 78: 999-1010. PMID 16685650 DOI: 10.1086/504440  0.6
2006 Oti M, Snel B, Huynen MA, Brunner HG. Predicting disease genes using protein-protein interactions. Journal of Medical Genetics. 43: 691-8. PMID 16611749 DOI: 10.1136/jmg.2006.041376  0.6
2006 Van Reeuwijk J, Maugenre S, Van Den Elzen C, Verrips A, Bertini E, Muntoni F, Merlini L, Scheffer H, Brunner HG, Guicheney P, Van Bokhoven H. The expanding phenotype of POMT1 mutations: From Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation Human Mutation. 27: 453-459. PMID 16575835 DOI: 10.1002/humu.20313  0.6
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 CW, et al. Mutations in different components of FGF signaling in LADD syndrome. Nature Genetics. 38: 414-7. PMID 16501574 DOI: 10.1038/ng1757  0.6
2006 van Driel MA, Bruggeman J, Vriend G, Brunner HG, Leunissen JA. A text-mining analysis of the human phenome. European Journal of Human Genetics : Ejhg. 14: 535-42. PMID 16493445 DOI: 10.1038/sj.ejhg.5201585  0.6
2006 Jongmans MCJ, Admiraal RJ, Van Der Donk KP, Vissers LELM, Baas AF, Kapusta L, Van Hagen JM, Donnai D, De Ravel TJ, Veltman JA, Geurts Van Kessel A, De Vries BBA, Brunner HG, Hoefsloot LH, Van Ravenswaaij CMA. CHARGE syndrome: The phenotypic spectrum of mutations in the CHD7 gene Journal of Medical Genetics. 43: 306-314. PMID 16155193 DOI: 10.1136/jmg.2005.036061  0.64
2006 Ali M, Highet LJ, Lacombe D, Goizet C, King MD, Tacke U, van der Knaap MS, Lagae L, Rittey C, Brunner HG, van Bokhoven H, Hamel B, Oade YA, Sanchis A, Desguerre I, et al. A second locus for Aicardi-Goutieres syndrome at chromosome 13q14-21. Journal of Medical Genetics. 43: 444-50. PMID 15908569 DOI: 10.1136/jmg.2005.031880  0.64
2006 van Driel MA, Brunner HG. Bioinformatics methods for identifying candidate disease genes Human Genomics. DOI: 10.1186/1479-7364-2-6-429  0.6
2006 Koolen DA, Herbergs J, Veltman JA, Pfundt R, Van Bokhoven H, Stroink H, Sistermans EA, Brunner HG, Geurts Van Kessel A, De Vries BBA. Holoprosencephaly and preaxial polydactyly associated with a 1.24 Mb duplication encompassing FBXW11 at 5q35.1 Journal of Human Genetics. 51: 721-726. DOI: 10.1007/s10038-006-0010-8  0.6
2005 Kalay E, Karaguzel A, Caylan R, Heister A, Cremers FP, Cremers CW, Brunner HG, de Brouwer AP, Kremer H. Four novel TMC1 (DFNB7/DFNB11) mutations in Turkish patients with congenital autosomal recessive nonsyndromic hearing loss Human Mutation.. 26: 591. PMID 16287143 DOI: 10.1002/HUMU.9384  0.6
2005 Kalay E, De Brouwer APM, Caylan R, Nabuurs SB, Wollnik B, Karaguzel A, Heister JGAM, Erdol H, Cremers FPM, Cremers CWRJ, Brunner HG, Kremer H. A novel D458V mutation in the SANS PDZ binding motif causes atypical Usher syndrome Journal of Molecular Medicine. 83: 1025-1032. PMID 16283141 DOI: 10.1007/s00109-005-0719-4  0.6
2005 Vissers LELM, Veltman JA, van Kessel AG, Brunner HG. Identification of disease genes by whole genome CGH arrays Human Molecular Genetics. 14: R215-R223. PMID 16244320 DOI: 10.1093/hmg/ddi268  0.6
2005 De Vries BBA, Pfundt R, Leisink M, Koolen DA, Vissers LELM, Janssen IM, Van Reijmersdal S, Nillesen WM, Huys EHLPG, De Leeuw N, Smeets D, Sistermans EA, Feuth T, Van Ravenswaaij-Arts CMA, Van Kessel AG, ... ... Brunner HG, et al. Diagnostic genome profiling in mental retardation American Journal of Human Genetics. 77: 606-616. PMID 16175506 DOI: 10.1086/491719  0.6
2005 Van Der Zwaag B, Burbach JPH, Brunner HG, Van Bokhoven H, Padberg GW. Nucleotide variation analysis does not support a causal role for plexin-A1 in hereditary congenital facial paresis Developmental Brain Research. 158: 66-71. PMID 15996756 DOI: 10.1016/j.devbrainres.2005.06.004  0.6
2005 van Driel MA, Cuelenaere K, Kemmeren PP, Leunissen JA, Brunner HG, Vriend G. GeneSeeker: extraction and integration of human disease-related information from web-based genetic databases. Nucleic Acids Research. 33: W758-61. PMID 15980578 DOI: 10.1093/nar/gki435  0.6
2005 Van Der Zwaag B, Burbach JPH, Scharfe C, Oefner PJ, Brunner HG, Padberg GW, Van Bokhoven H. Identifying new candidate genes for hereditary facial paresis on chromosome 3q21-q22 by RNA in situ hybridization in mouse Genomics. 86: 55-67. PMID 15953540 DOI: 10.1016/j.ygeno.2005.03.007  0.6
2005 Brunner HG, Van Bokhoven H. Genetic players in esophageal atresia and tracheoesophageal fistula Current Opinion in Genetics and Development. 15: 341-347. PMID 15917211 DOI: 10.1016/j.gde.2005.04.010  0.6
2005 van Reeuwijk J, Janssen M, van den Elzen C, Beltran-Valero de Bernabé D, Sabatelli P, Merlini L, Boon M, Scheffer H, Brockington M, Muntoni F, Huynen MA, Verrips A, Walsh CA, Barth PG, Brunner HG, et al. POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome. Journal of Medical Genetics. 42: 907-12. PMID 15894594 DOI: 10.1136/jmg.2005.031963  0.64
2005 Van Bokhoven H, Celli J, Van Reeuwijk J, Rinne T, Glaudemans B, Van Beusekom E, 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. PMID 15821734 DOI: 10.1038/ng1546  0.6
2005 Kleefstra T, Smidt M, Banning MJG, Oudakker AR, Van Esch H, De Brouwer APM, Nillesen W, Sistermans EA, Hamel BCJ, De Bruijn D, Fryns JP, Yntema HG, Brunner HG, De Vries BBA, Van Bokhoven H. Disruption of the gene Euchromatin Histone Methyl Transferase1 (Eu-HMTase1) is associated with the 9q34 subtelomeric deletion syndrome Journal of Medical Genetics. 42: 299-306. PMID 15805155 DOI: 10.1136/jmg.2004.028464  0.64
2005 Kerstjens-Frederikse WS, Brunner HG, Van Dael CML, Van Essen AJ. Malpuech syndrome: Three patients and a review American Journal of Medical Genetics. 134: 450-453. PMID 15793834 DOI: 10.1002/ajmg.a.30662  0.64
2005 van Reeuwijk J, Brunner HG, van Bokhoven H. Glyc-O-genetics of Walker-Warburg syndrome Clinical Genetics. 67: 281-289. PMID 15733261 DOI: 10.1111/j.1399-0004.2004.00368.x  0.64
2005 Giunta C, Randolph A, Al-Gazali LI, Brunner HG, Kraenzlin ME, Steinmann B. Nevo syndrome is allelic to the kyphoscoliotic type of the Ehlers-Danlos syndrome (EDS VIA) American Journal of Medical Genetics. 133: 158-164. PMID 15666309 DOI: 10.1002/ajmg.a.30529  0.6
2004 Koolen DA, Nillesen WM, Versteeg MHA, Merkx GFM, Knoers NVAM, Kets M, Vermeer S, Van Ravenswaaij CMA, De Kovel CG, Brunner HG, Smeets D, De Vries BBA, Sistermans EA. Screening for subtelomeric rearrangements in 210 patients with unexplained mental retardation using multiplex ligation dependent probe amplification (MLPA) Journal of Medical Genetics. 41: 892-899. PMID 15591274 DOI: 10.1136/jmg.2004.023671  0.64
2004 Van Der Zwaag B, Verzijl HTFM, Wichers KH, Beltran-Valero De Bernabe D, Brunner HG, Van Bokhoven H, Padberg GW. Sequence analysis of the PLEXIN-D1 gene in Möbius syndrome patients Pediatric Neurology. 31: 114-118. PMID 15301830 DOI: 10.1016/j.pediatrneurol.2004.02.004  0.6
2004 Vissers LELM, Van Ravenswaaij CMA, Admiraal R, Hurst JA, De Vries BBA, Janssen IM, Van Der Vliet WA, Huys EHLPG, De Jong PJ, Hamel BCJ, Schoenmakers EFPM, Brunner HG, Veltman JA, Van Kessel AG. Mutations in a new member of the chromodomain gene family cause CHARGE syndrome Nature Genetics. 36: 955-957. PMID 15300250 DOI: 10.1038/ng1407  0.6
2004 Luijendijk MW, Van Wijk E, Bischoff AM, Krieger E, Huygen PL, Pennings RJ, Brunner HG, Cremers CW, Cremers FP, Kremer H. Identification and molecular modelling of a mutation in the motor head domain of myosin VIIA in a family with autosomal dominant hearing impairment (DFNA11). Human Genetics. 115: 149-56. PMID 15221449 DOI: 10.1007/s00439-004-1137-3  0.44
2004 Beltran-Valero de Bernabé D, Voit T, Longman C, Steinbrecher A, Straub V, Yuva Y, Herrmann R, Sperner J, Korenke C, Diesen C, Dobyns WB, Brunner HG, van Bokhoven H, Brockington M, Muntoni F. Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome. Journal of Medical Genetics. 41: e61. PMID 15121789 DOI: 10.1136/jmg.2003.013870  0.64
2003 Luijendijk MW, van de Pol TJ, van Duijnhoven G, den Hollander AI, ten Caat J, van Limpt V, Brunner HG, Kremer H, Cremers FP. Cloning, characterization, and mRNA expression analysis of novel human fetal cochlear cDNAs. Genomics. 82: 480-90. PMID 13679028  0.44
2003 Yzer S, van den Born LI, Schuil J, Kroes HY, van Genderen MM, Boonstra FN, van den Helm B, Brunner HG, Koenekoop RK, Cremers FP. A Tyr368His RPE65 founder mutation is associated with variable expression and progression of early onset retinal dystrophy in 10 families of a genetically isolated population. Journal of Medical Genetics. 40: 709-13. PMID 12960219  0.44
2003 van den Hurk JA, van de Pol DJ, Wissinger B, van Driel MA, Hoefsloot LH, de Wijs IJ, van den Born LI, Heckenlively JR, Brunner HG, Zrenner E, Ropers HH, Cremers FP. Novel types of mutation in the choroideremia ( CHM) gene: a full-length L1 insertion and an intronic mutation activating a cryptic exon. Human Genetics. 113: 268-75. PMID 12827496 DOI: 10.1007/s00439-003-0970-0  0.6
2002 Maugeri A, Flothmann K, Hemmrich N, Ingvast S, Jorge P, Paloma E, Patel R, Rozet JM, Tammur J, Testa F, Balcells S, Bird AC, Brunner HG, Hoyng CB, Metspalu A, et al. The ABCA4 2588G>C Stargardt mutation: single origin and increasing frequency from South-West to North-East Europe. European Journal of Human Genetics : Ejhg. 10: 197-203. PMID 11973624 DOI: 10.1038/sj.ejhg.5200784  0.6
2001 den Hollander AI, Johnson K, de Kok YJ, Klebes A, Brunner HG, Knust E, Cremers FP. CRB1 has a cytoplasmic domain that is functionally conserved between human and Drosophila. Human Molecular Genetics. 10: 2767-73. PMID 11734541  0.44
2001 den Hollander AI, Heckenlively JR, van den Born LI, de Kok YJ, van der Velde-Visser SD, Kellner U, Jurklies B, van Schooneveld MJ, Blankenagel A, Rohrschneider K, Wissinger B, Cruysberg JR, Deutman AF, Brunner HG, Apfelstedt-Sylla E, et al. Leber congenital amaurosis and retinitis pigmentosa with Coats-like exudative vasculopathy are associated with mutations in the crumbs homologue 1 (CRB1) gene. American Journal of Human Genetics. 69: 198-203. PMID 11389483  0.44
2000 Maugeri A, Klevering BJ, Rohrschneider K, Blankenagel A, Brunner HG, Deutman AF, Hoyng CB, Cremers FP. Mutations in the ABCA4 (ABCR) gene are the major cause of autosomal recessive cone-rod dystrophy. American Journal of Human Genetics. 67: 960-6. PMID 10958761 DOI: 10.1086/303079  0.44
1999 Yntema HG, van den Helm B, Kissing J, van Duijnhoven G, Poppelaars F, Chelly J, Moraine C, Fryns JP, Hamel BC, Heilbronner H, Pander HJ, Brunner HG, Ropers HH, Cremers FP, van Bokhoven H. A novel ribosomal S6-kinase (RSK4; RPS6KA6) is commonly deleted in patients with complex X-linked mental retardation. Genomics. 62: 332-43. PMID 10644430 DOI: 10.1006/geno.1999.6004  0.72
1999 den Hollander AI, ten Brink JB, de Kok YJ, van Soest S, van den Born LI, van Driel MA, van de Pol DJ, Payne AM, Bhattacharya SS, Kellner U, Hoyng CB, Westerveld A, Brunner HG, Bleeker-Wagemakers EM, Deutman AF, et al. Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12). Nature Genetics. 23: 217-21. PMID 10508521 DOI: 10.1038/13848  0.6
1999 den Hollander AI, van Driel MA, de Kok YJ, van de Pol DJ, Hoyng CB, Brunner HG, Deutman AF, Cremers FP. Isolation and mapping of novel candidate genes for retinal disorders using suppression subtractive hybridization. Genomics. 58: 240-9. PMID 10373321 DOI: 10.1006/geno.1999.5823  0.44
1999 Maugeri A, van Driel MA, van de Pol DJ, Klevering BJ, van Haren FJ, Tijmes N, Bergen AA, Rohrschneider K, Blankenagel A, Pinckers AJ, Dahl N, Brunner HG, Deutman AF, Hoyng CB, Cremers FP. The 2588G-->C mutation in the ABCR gene is a mild frequent founder mutation in the Western European population and allows the classification of ABCR mutations in patients with Stargardt disease. American Journal of Human Genetics. 64: 1024-35. PMID 10090887 DOI: 10.1086/302323  0.44
1999 Gong Y, Krakow D, Marcelino J, Wilkin D, Chitayat D, Babul-Hirji R, Hudgins L, Cremers CW, Cremers FP, Brunner HG, Reinker K, Rimoin DL, Cohn DH, Goodman FR, Reardon W, et al. Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis. Nature Genetics. 21: 302-4. PMID 10080184 DOI: 10.1038/6821  0.44
1999 den Hollander AI, van der Velde-Visser SD, Pinckers AJ, Hoyng CB, Brunner HG, Cremers FP. Refined mapping of the gene for autosomal dominant retinitis pigmentosa (RP17) on chromosome 17q22. Human Genetics. 104: 73-6. PMID 10071195  0.44
1999 van Bokhoven H, Jung M, Smits AP, van Beersum S, Rüschendorf F, van Steensel M, Veenstra M, Tuerlings JH, Mariman EC, Brunner HG, Wienker TF, Reis A, Ropers HH, Hamel BC. Limb mammary syndrome: a new genetic disorder with mammary hypoplasia, ectrodactyly, and other Hand/Foot anomalies maps to human chromosome 3q27. American Journal of Human Genetics. 64: 538-46. PMID 9973291 DOI: 10.1086/302246  0.72
1999 de Kok YJ, Bom SJ, Brunt TM, Kemperman MH, van Beusekom E, van der Velde-Visser SD, Robertson NG, Morton CC, Huygen PL, Verhagen WI, Brunner HG, Cremers CW, Cremers FP. A Pro51Ser mutation in the COCH gene is associated with late onset autosomal dominant progressive sensorineural hearing loss with vestibular defects. Human Molecular Genetics. 8: 361-6. PMID 9931344 DOI: 10.1093/hmg/8.2.361  0.6
1996 de Kok YJ, Vossenaar ER, Cremers CW, Dahl N, Laporte J, Hu LJ, Lacombe D, Fischel-Ghodsian N, Friedman RA, Parnes LS, Thorpe P, Bitner-Glindzicz M, Pander HJ, Heilbronner H, Graveline J, ... ... Brunner HG, et al. Identification of a hot spot for microdeletions in patients with X-linked deafness type 3 (DFN3) 900 kb proximal to the DFN3 gene POU3F4. Human Molecular Genetics. 5: 1229-35. PMID 8872461  0.72
1995 Hamel BC, Draaisma JM, Pinckers AJ, Boetes C, Hoppe RL, Ropers HH, Brunner HG. Autosomal recessive Melnick-Needles syndrome or ter Haar syndrome? Report of a patient and reappraisal of an earlier report. American Journal of Medical Genetics. 56: 312-6. PMID 7778598 DOI: 10.1002/ajmg.1320560320  0.72
1994 Brunner HG, van Beersum SE, Warman ML, Olsen BR, Ropers HH, Mariman EC. A Stickler syndrome gene is linked to chromosome 6 near the COL11A2 gene. Human Molecular Genetics. 3: 1561-4. PMID 7833911 DOI: 10.1093/hmg/3.9.1561  0.72
1993 Brunner HG, Nelen MR, van Zandvoort P, Abeling NG, van Gennip AH, Wolters EC, Kuiper MA, Ropers HH, van Oost BA. X-linked borderline mental retardation with prominent behavioral disturbance: phenotype, genetic localization, and evidence for disturbed monoamine metabolism. American Journal of Human Genetics. 52: 1032-9. PMID 8503438  0.72
1993 Brunner HG, Jansen G, Nillesen W, Nelen MR, de Die CE, Höweler CJ, van Oost BA, Wieringa B, Ropers HH, Smeets HJ. Brief report: reverse mutation in myotonic dystrophy. The New England Journal of Medicine. 328: 476-80. PMID 8421477 DOI: 10.1056/NEJM199302183280705  0.6
1993 Brunner HG, Höweler CJ, Smeets HJ, Wieringa B. [An unstable mutation as cause of myotonic dystrophy]. Nederlands Tijdschrift Voor Geneeskunde. 137: 2468-72. PMID 8272119  0.64
1993 Brunner HG, Brüggenwirth HT, Nillesen W, Jansen G, Hamel BC, Hoppe RL, de Die CE, Höweler CJ, van Oost BA, Wieringa B. Influence of sex of the transmitting parent as well as of parental allele size on the CTG expansion in myotonic dystrophy (DM). American Journal of Human Genetics. 53: 1016-23. PMID 8213829  0.6
1993 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 (New York, N.Y.). 262: 578-80. PMID 8211186  0.72
1992 Bach I, Brunner HG, Beighton P, Ruvalcaba RH, Reardon W, Pembrey ME, van der Velde-Visser SD, Bruns GA, Cremers CW, Cremers FP. Microdeletions in patients with gusher-associated, X-linked mixed deafness (DFN3). American Journal of Human Genetics. 51: 38-44. PMID 1609803  0.44
1992 Brunner HG, Nillesen W, van Oost BA, Jansen G, Wieringa B, Ropers HH, Smeets HJ. Presymptomatic diagnosis of myotonic dystrophy. Journal of Medical Genetics. 29: 780-4. PMID 1453426  0.6
1992 Smeets HJ, Nillesen WM, Los F, Busch HF, Korneluk RG, Wieringa B, Brunner HG. Prenatal diagnosis of myotonic dystrophy by direct mutation analysis. Lancet (London, England). 340: 237-8. PMID 1353153 DOI: 10.1016/0140-6736(92)90500-3  0.72
1991 Brunner HG, Spaans F, Smeets HJ, Coerwinkel-Driessen M, Hulsebos T, Wieringa B, Ropers HH. Genetic linkage with chromosome 19 but not chromosome 17 in a family with myotonic dystrophy associated with hereditary motor and sensory neuropathy. Neurology. 41: 80-4. PMID 1985299  0.72
1991 Brunner HG, Smeets HJ, Nillesen W, van Oost BA, van den Biezenbos JB, Joosten EM, Pinckers AJ, Hamel BC, Theeuwes AG, Wieringa B. Myotonic dystrophy. Predictive value of normal results on clinical examination. Brain : a Journal of Neurology. 114: 2303-11. PMID 1933246  0.72
1991 Smeets HJ, Hermens R, Brunner HG, Ropers HH, Wieringa B. Identification of variable simple sequence motifs in 19q13.2-qter: markers for the myotonic dystrophy locus. Genomics. 9: 257-63. PMID 1840564  0.72
1991 Brunner HG, Smeets B, Smeets D, Nelen M, Cremers CW, Ropers HH. Molecular genetics of X-linked hearing impairment. Annals of the New York Academy of Sciences. 630: 176-90. PMID 1683204  0.72
1991 van Oost BA, van Zandvoort PM, Tünte W, Brunner HG, Hoogeboom AJ, Maaswinkel-Mooy PD, Bakkeren J, Hamel B, Ropers HH. Linkage analysis in X-linked adrenoleukodystrophy and application in post- and prenatal diagnosis. Human Genetics. 86: 404-7. PMID 1671851  0.72
1989 Brunner HG, Korneluk RG, Coerwinkel-Driessen M, MacKenzie A, Smeets H, Lambermon HM, van Oost BA, Wieringa B, Ropers HH. Myotonic dystrophy is closely linked to the gene for muscle-type creatine kinase (CKMM). Human Genetics. 81: 308-10. PMID 2703233 DOI: 10.1007/BF00283680  0.6
1989 Brunner HG, Smeets H, Lambermon HM, Coerwinkel-Driessen M, van Oost BA, Wieringa B, Ropers HH. A multipoint linkage map around the locus for myotonic dystrophy on chromosome 19. Genomics. 5: 589-95. PMID 2575588  0.72
1989 Smeets HJ, Brunner HG, Ropers HH, Wieringa B. Use of variable simple sequence motifs as genetic markers: application to study of myotonic dystrophy. Human Genetics. 83: 245-51. PMID 2571562  0.72
1988 Brunner HG, van Bennekom A, Lambermon EM, Oei TL, Cremers WR, Wieringa B, Ropers HH. The gene for X-linked progressive mixed deafness with perilymphatic gusher during stapes surgery (DFN3) is linked to PGK. Human Genetics. 80: 337-40. PMID 2904400  0.72
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