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/

453 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
2022 Vanoevelen JM, Bierau J, Grashorn JC, Lambrichs E, Kamsteeg EJ, Bok LA, Wevers RA, van der Knaap MS, Bugiani M, Frisk JH, Colnaghi R, O'Driscoll M, Hellebrekers DMEI, Rodenburg R, Ferreira CR, ... Brunner HG, et al. DTYMK is essential for genome integrity and neuronal survival. Acta Neuropathologica. 143: 245-262. PMID 34918187 DOI: 10.1007/s00401-021-02394-0  1
2021 van der Schoot V, Haer-Wigman L, Feenstra I, Tammer F, Oerlemans AJM, van Koolwijk MPA, van Agt F, Arens YHJM, Brunner HG, Vissers LELM, Yntema HG. Lessons learned from unsolicited findings in clinical exome sequencing of 16,482 individuals. European Journal of Human Genetics : Ejhg. PMID 34697415 DOI: 10.1038/s41431-021-00964-0  1
2021 Schobers G, Koeck R, Pellaers D, Stevens SJC, Macville MVE, Paulussen ADC, Coonen E, van den Wijngaard A, de Die-Smulders C, de Wert G, Brunner HG, Zamani Esteki M. Liquid biopsy: state of reproductive medicine and beyond. Human Reproduction (Oxford, England). 36: 2824-2839. PMID 34562078 DOI: 10.1093/humrep/deab206  1
2021 Antony D, Brunner HG, Schmidts M. Ciliary Dyneins and Dynein Related Ciliopathies. Cells. 10. PMID 34440654 DOI: 10.3390/cells10081885  0.01
2021 Zurek B, Ellwanger K, Vissers LELM, Schüle R, Synofzik M, Töpf A, de Voer RM, Laurie S, Matalonga L, Gilissen C, Ossowski S, 't Hoen PAC, Vitobello A, Schulze-Hentrich JM, Riess O, ... Brunner HG, et al. Correction to: Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases. European Journal of Human Genetics : Ejhg. PMID 34385672 DOI: 10.1038/s41431-021-00936-4  1
2021 Carvill GL, Jansen S, Lacroix A, Zemel M, Mehaffey M, De Vries P, Brunner HG, Scheffer IE, De Vries BBA, Vissers LELM, Mefford HC. Genetic convergence of developmental and epileptic encephalopathies and intellectual disability. Developmental Medicine and Child Neurology. PMID 34247411 DOI: 10.1111/dmcn.14989  1
2021 Stroeks SLVM, Hellebrekers DMEI, Claes GRF, Tayal U, Krapels IPC, Vanhoutte EK, van den Wijngaard A, Henkens MTHM, Ware JS, Heymans SRB, Brunner HG, Verdonschot JAJ. Clinical impact of re-evaluating genes and variants implicated in dilated cardiomyopathy. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 34194005 DOI: 10.1038/s41436-021-01255-1  1
2021 Zurek B, Ellwanger K, Vissers LELM, Schüle R, Synofzik M, Töpf A, de Voer RM, Laurie S, Matalonga L, Gilissen C, Ossowski S, 't Hoen PAC, Vitobello A, Schulze-Hentrich JM, Riess O, ... Brunner HG, et al. Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases. European Journal of Human Genetics : Ejhg. PMID 34075208 DOI: 10.1038/s41431-021-00859-0  1
2021 Raafs AG, Verdonschot JAJ, Henkens MTHM, Adriaans BP, Wang P, Derks K, Abdul Hamid MA, Knackstedt C, van Empel VPM, Díez J, Brunner-La Rocca HP, Brunner HG, González A, Bekkers SCAM, Heymans SRB, et al. The combination of PICP blood levels and LGE at CMR provides additional prognostic information in idiopathic Dilated Cardiomyopathy. European Journal of Heart Failure. PMID 33928704 DOI: 10.1002/ejhf.2201  1
2021 Rots D, Chater-Diehl E, Dingemans AJM, Goodman SJ, Siu MT, Cytrynbaum C, Choufani S, Hoang N, Walker S, Awamleh Z, Charkow J, Meyn S, Pfundt R, Rinne T, Gardeitchik T, ... ... Brunner HG, et al. Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature. American Journal of Human Genetics. PMID 33909990 DOI: 10.1016/j.ajhg.2021.04.008  1
2021 Pauper M, Kucuk E, Wenger AM, Chakraborty S, Baybayan P, Kwint M, van der Sanden B, Nelen MR, Derks R, Brunner HG, Hoischen A, Vissers LELM, Gilissen C. Correction: Long-read trio sequencing of individuals with unsolved intellectual disability. European Journal of Human Genetics : Ejhg. PMID 33772160 DOI: 10.1038/s41431-021-00868-z  1
2021 Sallevelt SCEH, Stegmann APA, de Koning B, Velter C, Steyls A, van Esch M, Lakeman P, Yntema H, Esteki MZ, de Die-Smulders CEM, Gilissen C, van den Wijngaard A, Brunner HG, Paulussen ADC. Diagnostic exome-based preconception carrier testing in consanguineous couples: results from the first 100 couples in clinical practice. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 33742171 DOI: 10.1038/s41436-021-01116-x  1
2021 Fridman H, Yntema HG, Mägi R, Andreson R, Metspalu A, Mezzavila M, Tyler-Smith C, Xue Y, Carmi S, Levy-Lahad E, Gilissen C, Brunner HG. The landscape of autosomal-recessive pathogenic variants in European populations reveals phenotype-specific effects. American Journal of Human Genetics. PMID 33740458 DOI: 10.1016/j.ajhg.2021.03.004  1
2021 Peters TMA, Lammerts van Bueren I, Geurtz BPBH, Coene KLM, de Leeuw N, Brunner HG, Jónsson JJ, Willemsen MAAP, Wevers RA, Verbeek MM. Monoamine oxidase A activity in fibroblasts as a functional confirmation of variants. Jimd Reports. 58: 114-121. PMID 33728254 DOI: 10.1002/jmd2.12194  1
2021 Schoot VV, Viellevoije SJ, Tammer F, Brunner HG, Arens Y, Yntema HG, Oerlemans AJM. The impact of unsolicited findings in clinical exome sequencing, a qualitative interview study. European Journal of Human Genetics : Ejhg. PMID 33637888 DOI: 10.1038/s41431-021-00834-9  1
2021 den Hoed J, de Boer E, Voisin N, Dingemans AJM, Guex N, Wiel L, Nellaker C, Amudhavalli SM, Banka S, Bena FS, Ben-Zeev B, Bonagura VR, Bruel AL, Brunet T, Brunner HG, et al. Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction. American Journal of Human Genetics. PMID 33513338 DOI: 10.1016/j.ajhg.2021.01.007  1
2021 Dingemans AJM, Stremmelaar DE, Vissers LELM, Jansen S, Nabais Sá MJ, van Remortele A, Jonis N, Truijen K, van de Ven S, Ewals J, Verbruggen M, Koolen DA, Brunner HG, Eichler EE, Gecz J, et al. Human disease genes website series: An international, open and dynamic library for up-to-date clinical information. American Journal of Medical Genetics. Part A. PMID 33439542 DOI: 10.1002/ajmg.a.62057  1
2020 Pauper M, Kucuk E, Wenger AM, Chakraborty S, Baybayan P, Kwint M, van der Sanden B, Nelen MR, Derks R, Brunner HG, Hoischen A, Vissers LELM, Gilissen C. Long-read trio sequencing of individuals with unsolved intellectual disability. European Journal of Human Genetics : Ejhg. PMID 33257779 DOI: 10.1038/s41431-020-00770-0  1
2020 Lessel D, Zeitler DM, Reijnders MRF, Kazantsev A, Hassani Nia F, Bartholomäus A, Martens V, Bruckmann A, Graus V, McConkie-Rosell A, McDonald M, Lozic B, Tan ES, Gerkes E, Johannsen J, ... ... Brunner HG, et al. Germline AGO2 mutations impair RNA interference and human neurological development. Nature Communications. 11: 5797. PMID 33199684 DOI: 10.1038/s41467-020-19572-5  1
2020 Verdonschot JAJ, Merlo M, Dominguez F, Wang P, Henkens MTHM, Adriaens ME, Hazebroek MR, Masè M, Escobar LE, Cobas-Paz R, Derks KWJ, van den Wijngaard A, Krapels IPC, Brunner HG, Sinagra G, et al. Phenotypic clustering of dilated cardiomyopathy patients highlights important pathophysiological differences. European Heart Journal. PMID 33156912 DOI: 10.1093/eurheartj/ehaa841  1
2020 Snijders Blok L, Vino A, den Hoed J, Underhill HR, Monteil D, Li H, Reynoso Santos FJ, Chung WK, Amaral MD, Schnur RE, Santiago-Sim T, Si Y, Brunner HG, Kleefstra T, Fisher SE. Heterozygous variants that disturb the transcriptional repressor activity of FOXP4 cause a developmental disorder with speech/language delays and multiple congenital abnormalities. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 33110267 DOI: 10.1038/s41436-020-01016-6  1
2020 Kaplanis J, Samocha KE, Wiel L, Zhang Z, Arvai KJ, Eberhardt RY, Gallone G, Lelieveld SH, Martin HC, McRae JF, Short PJ, Torene RI, de Boer E, Danecek P, Gardner EJ, ... ... Brunner HG, et al. Evidence for 28 genetic disorders discovered by combining healthcare and research data. Nature. PMID 33057194 DOI: 10.1038/s41586-020-2832-5  1
2020 Verdonschot JAJ, Merken JJ, van Stipdonk AMW, Pliger P, Derks KWJ, Wang P, Henkens MTHM, van Paassen P, Abdul Hamid MA, van Empel VPM, Knackstedt C, Luermans JGLM, Crijns HJGM, Brunner-La Rocca HP, Brunner HG, et al. Cardiac Inflammation Impedes Response to Cardiac Resynchronization Therapy in Patients with Idiopathic Dilated Cardiomyopathy. Circulation. Arrhythmia and Electrophysiology. PMID 32997547 DOI: 10.1161/CIRCEP.120.008727  1
2020 Verdonschot JAJ, Derks KWJ, Hazebroek MR, Wang P, Robinson EL, Adriaens ME, Krapels IPC, van den Wijngaard A, Brunner HG, Heymans SRB. Distinct Cardiac Transcriptomic Clustering in Titin and Lamin A/C-Associated Dilated Cardiomyopathy Patients. Circulation. 142: 1230-1232. PMID 32955937 DOI: 10.1161/CIRCULATIONAHA.119.045118  1
2020 Verdonschot JAJ, Hazebroek MR, Krapels IPC, Henkens MTHM, Raafs A, Wang P, Merken JJ, Claes GRF, Vanhoutte EK, van den Wijngaard A, Heymans SRB, Brunner HG. Implications of Genetic Testing in Dilated Cardiomyopathy. Circulation. Genomic and Precision Medicine. PMID 32880476 DOI: 10.1161/CIRCGEN.120.003031  1
2020 van der Made CI, Simons A, Schuurs-Hoeijmakers J, van den Heuvel G, Mantere T, Kersten S, van Deuren RC, Steehouwer M, van Reijmersdal SV, Jaeger M, Hofste T, Astuti G, Corominas Galbany J, van der Schoot V, van der Hoeven H, ... ... Brunner HG, et al. Presence of Genetic Variants Among Young Men With Severe COVID-19. Jama. PMID 32706371 DOI: 10.1001/Jama.2020.13719  1
2020 Mazzeu JF, Brunner HG. 50 years of Robinow syndrome. American Journal of Medical Genetics. Part A. PMID 32691531 DOI: 10.1002/Ajmg.A.61756  1
2020 van de Putte R, Dworschak GC, Brosens E, Reutter HM, Marcelis CLM, Acuna-Hidalgo R, Kurtas NE, Steehouwer M, Dunwoodie SL, Schmiedeke E, Märzheuser S, Schwarzer N, Brooks AS, de Klein A, Sloots CEJ, ... ... Brunner HG, et al. A Genetics-First Approach Revealed Monogenic Disorders in Patients With ARM and VACTERL Anomalies. Frontiers in Pediatrics. 8: 310. PMID 32656166 DOI: 10.3389/fped.2020.00310  1
2020 van de Putte R, van Rooij IALM, Haanappel CP, Marcelis CLM, Brunner HG, Addor MC, Cavero-Carbonell C, Dias CM, Draper ES, Etxebarriarteun L, Gatt M, Khoshnood B, Kinsner-Ovaskainen A, Klungsoyr K, Kurinczuk JJ, et al. Maternal risk factors for the VACTERL association: A EUROCAT case-control study. Birth Defects Research. PMID 32319733 DOI: 10.1002/bdr2.1686  1
2020 Grasby KL, Jahanshad N, Painter JN, Colodro-Conde L, Bralten J, Hibar DP, Lind PA, Pizzagalli F, Ching CRK, McMahon MAB, Shatokhina N, Zsembik LCP, Thomopoulos SI, Zhu AH, Strike LT, ... ... Brunner HG, et al. The genetic architecture of the human cerebral cortex. Science (New York, N.Y.). 367. PMID 32193296 DOI: 10.1126/Science.Aay6690  1
2020 Verdonschot JAJ, Vanhoutte EK, Claes GRF, Helderman-van den Enden ATJM, Hoeijmakers JGJ, Hellebrekers DMEI, de Haan A, Christiaans I, Lekanne Deprez RH, Boen HM, van Craenenbroeck EM, Loeys BL, Hoedemakers YM, Marcelis C, Kempers M, ... ... Brunner HG, et al. A Mutation Update for the FLNC gene in Myopathies and Cardiomyopathies. Human Mutation. PMID 32112656 DOI: 10.1002/humu.24004  1
2020 Klein M, Singgih EL, van Rens A, Demontis D, Børglum AD, Mota NR, Castells-Nobau A, Kiemeney LA, Brunner HG, Arias-Vasquez A, Schenck A, van der Voet M, Franke B. Contribution of Intellectual Disability-Related Genes to ADHD Risk and to Locomotor Activity in . The American Journal of Psychiatry. appiajp201918050599. PMID 32046534 DOI: 10.1176/Appi.Ajp.2019.18050599  1
2019 Ramsay M, Brunner HG, Djikeng A. Leveraging genomic diversity to promote human and animal health. Communications Biology. 2: 463. PMID 31925303 DOI: 10.1038/s42003-019-0708-8  1
2019 Verdonschot JAJ, Robinson EL, James KN, Mohamed MW, Claes GRF, Casas K, Vanhoutte EK, Hazebroek MR, Kringlen G, Pasierb MM, van den Wijngaard A, Glatz JFC, Heymans SRB, Krapels IPC, Nahas S, ... Brunner HG, et al. Mutations in PDLIM5 are rare in dilated cardiomyopathy but are emerging as potential disease modifiers. Molecular Genetics & Genomic Medicine. e1049. PMID 31880413 DOI: 10.1002/mgg3.1049  1
2019 Ramsay M, Brunner HG, Djikeng A. Leveraging genomic diversity to promote human and animal health. Communications Biology. 2: 463. PMID 31840108 DOI: 10.1038/s42003-019-0708-8  1
2019 Guo H, Bettella E, Marcogliese PC, Zhao R, Andrews JC, Nowakowski TJ, Gillentine MA, Hoekzema K, Wang T, Wu H, Jangam S, Liu C, Ni H, Willemsen MH, van Bon BW, ... ... Brunner HG, et al. Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders. Nature Communications. 10: 4679. PMID 31616000 DOI: 10.1038/S41467-019-12435-8  1
2019 Verdonschot JAJ, Wang P, van Bilsen M, Hazebroek MR, Merken JJ, Vanhoutte EK, Henkens MTHM, van den Wijngaard A, Glatz JFC, Krapels IPC, Brunner HG, Heymans SRB, Bierau J. Metabolic Profiling Associates with Disease Severity in Non-Ischemic Dilated Cardiomyopathy. Journal of Cardiac Failure. PMID 31541741 DOI: 10.1016/j.cardfail.2019.09.004  1
2019 van de Putte R, van Rooij IALM, Marcelis CLM, Guo M, Brunner HG, Addor MC, Cavero-Carbonell C, Dias CM, Draper ES, Etxebarriarteun L, Gatt M, Haeusler M, Khoshnood B, Klungsoyr K, Kurinczuk JJ, et al. Spectrum of congenital anomalies among VACTERL cases: a EUROCAT population-based study. Pediatric Research. PMID 31499513 DOI: 10.1038/s41390-019-0561-y  1
2019 Kerkhofs C, Stevens SJC, Faust SN, Rae W, Williams AP, Wurm P, Østern R, Fockens P, Würfel C, Laass M, Kokke F, Stegmann APA, Brunner HG. Mutations in RPSA and NKX2-3 link development of the spleen and intestinal vasculature. Human Mutation. PMID 31498527 DOI: 10.1002/humu.23909  1
2019 Nellåker C, Alkuraya FS, Baynam G, Bernier RA, Bernier FPJ, Boulanger V, Brudno M, Brunner HG, Clayton-Smith J, Cogné B, Dawkins HJS, deVries BBA, Douzgou S, Dudding-Byth T, Eichler EE, et al. Enabling Global Clinical Collaborations on Identifiable Patient Data: The Minerva Initiative. Frontiers in Genetics. 10: 611. PMID 31417602 DOI: 10.3389/Fgene.2019.00611  1
2019 Snijders Blok L, Kleefstra T, Venselaar H, Maas S, Kroes HY, Lachmeijer AMA, van Gassen KLI, Firth HV, Tomkins S, Bodek S, Õunap K, Wojcik MH, Cunniff C, Bergstrom K, ... ... Brunner HG, et al. De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental Disorder. American Journal of Human Genetics. PMID 31303265 DOI: 10.1016/J.Ajhg.2019.06.007  1
2019 Verdonschot JAJ, Merken JJ, Brunner-La Rocca HP, Hazebroek MR, Eurlings CGMJ, Thijssen E, Wang P, Weerts J, van Empel V, Schummers G, Schreckenberg M, van den Wijngaard A, Lumens J, Brunner HG, Heymans SRB, et al. Value of Speckle Tracking-Based Deformation Analysis in Screening Relatives of Patients Asymptomatic Dilated Cardiomyopathy. Jacc. Cardiovascular Imaging. PMID 31202754 DOI: 10.1016/j.jcmg.2019.02.032  1
2019 van de Putte R, Wijers CHW, Reutter H, Vermeulen SH, Marcelis CLM, Brosens E, Broens PMA, Homberg M, Ludwig M, Jenetzky E, Zwink N, Sloots CEJ, de Klein A, Brooks AS, Hofstra RMW, ... ... Brunner HG, et al. Exome chip association study excluded the involvement of rare coding variants with large effect sizes in the etiology of anorectal malformations. Plos One. 14: e0217477. PMID 31136621 DOI: 10.1371/journal.pone.0217477  1
2019 Snijders Blok L, Rousseau J, Twist J, Ehresmann S, Takaku M, Venselaar H, Rodan LH, Nowak CB, Douglas J, Swoboda KJ, Steeves MA, Sahai I, Stumpel CTRM, Stegmann APA, Wheeler P, ... ... Brunner HG, et al. Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language. Nature Communications. 10: 2079. PMID 31048695 DOI: 10.1038/s41467-019-10161-9  1
2019 Bell S, Rousseau J, Peng H, Aouabed Z, Priam P, Theroux JF, Jefri M, Tanti A, Wu H, Kolobova I, Silviera H, Manzano-Vargas K, Ehresmann S, Hamdan FF, Hettige N, ... ... Brunner HG, et al. Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons. American Journal of Human Genetics. PMID 31031012 DOI: 10.1016/J.Ajhg.2019.03.022  1
2019 Diets IJ, van der Donk R, Baltrunaite K, Waanders E, Reijnders MRF, Dingemans AJM, Pfundt R, Vulto-van Silfhout AT, Wiel L, Gilissen C, Thevenon J, Perrin L, Afenjar A, Nava C, Keren B, ... ... Brunner HG, et al. De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism. American Journal of Human Genetics. PMID 30929739 DOI: 10.1016/J.Ajhg.2019.02.023  1
2019 Gunz P, Tilot AK, Wittfeld K, Teumer A, Shapland CY, van Erp TGM, Dannemann M, Vernot B, Neubauer S, Guadalupe T, Fernández G, Brunner HG, Enard W, Fallon J, Hosten N, et al. Neandertal Introgression Sheds Light on Modern Human Endocranial Globularity. Current Biology : Cb. 29: 895. PMID 30836076 DOI: 10.1016/j.cub.2019.02.008  1
2019 Blok LS, Rousseau J, Twist J, Ehresmann S, Takaku M, Venselaar H, Rodan LH, Nowak CB, Douglas J, Swoboda KJ, Steeves MA, Sahai I, Stumpel CTRM, Stegmann APA, Wheeler P, ... ... Brunner HG, et al. Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language. Nature Communications. 10: 883. PMID 30770872 DOI: 10.1038/S41467-019-08800-2  1
2019 Klein M, Singgih E, Rens Av, Demontis D, Børglum A, Mota NR, Castells-Nobau A, Brunner H, Arias-Vásquez A, Schenck A, Voet Mvd, Franke B. P.1.12 Intellectual disability-related genes increase ADHD risk and locomotor activity in Drosophila melanogaster European Neuropsychopharmacology. 29. DOI: 10.1016/J.Euroneuro.2019.01.015  1
2019 Shi Y, Rhijn Jv, Bormann M, Mossink B, Frega M, Hakobjan M, Kittel-Schneider S, Keller J, Schubert D, Brunner H, Franke B, Kasri NN. F12Aggression In A Dish: A Human Model For Brunner Syndrome Reveals Increased Neuronal Network Activity Of Dopaminergic Neurons European Neuropsychopharmacology. 29. DOI: 10.1016/J.Euroneuro.2018.08.092  1
2018 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. Correction: Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) Syndrome in Humans and Mice. Plos Genetics. 14: e1007866. PMID 30586382 DOI: 10.1371/journal.pgen.1007866  1
2018 Verdonschot JAJ, Hazebroek MR, Wang P, Sanders-van Wijk S, Merken JJ, Adriaansen YA, van den Wijngaard A, Krapels IPC, Brunner-La Rocca HP, Brunner HG, Heymans SRB. Clinical Phenotype and Genotype Associations With Improvement in Left Ventricular Function in Dilated Cardiomyopathy. Circulation. Heart Failure. 11: e005220. PMID 30571196 DOI: 10.1161/CIRCHEARTFAILURE.118.005220  1
2018 van der Donk R, Jansen S, Schuurs-Hoeijmakers JHM, Koolen DA, Goltstein LCMJ, Hoischen A, Brunner HG, Kemmeren P, Nellåker C, Vissers LELM, de Vries BBA, Hehir-Kwa JY. Next-generation phenotyping using computer vision algorithms in rare genomic neurodevelopmental disorders. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 30568311 DOI: 10.1038/s41436-018-0404-y  1
2018 Gunz P, Tilot AK, Wittfeld K, Teumer A, Shapland CY, van Erp TGM, Dannemann M, Vernot B, Neubauer S, Guadalupe T, Fernández G, Brunner HG, Enard W, Fallon J, Hosten N, et al. Neandertal Introgression Sheds Light on Modern Human Endocranial Globularity. Current Biology : Cb. PMID 30554901 DOI: 10.1016/J.Cub.2018.10.065  1
2018 Snoeijen-Schouwenaars FM, van Ool JS, Verhoeven JS, van Mierlo P, Braakman HMH, Smeets EE, Nicolai J, Schoots J, Teunissen MWA, Rouhl RPW, Tan IY, Yntema HG, Brunner HG, Pfundt R, Stegmann AP, et al. Diagnostic exome sequencing in 100 consecutive patients with both epilepsy and intellectual disability. Epilepsia. PMID 30525188 DOI: 10.1111/epi.14618  1
2018 van Tienen FHJ, Lindsey PJ, Kamps MAF, Krapels IP, Ramaekers FCS, Brunner HG, van den Wijngaard A, Broers JLV. Assessment of fibroblast nuclear morphology aids interpretation of LMNA variants. European Journal of Human Genetics : Ejhg. PMID 30420677 DOI: 10.1038/s41431-018-0294-0  1
2018 Snijders Blok L, Rousseau J, Twist J, Ehresmann S, Takaku M, Venselaar H, Rodan LH, Nowak CB, Douglas J, Swoboda KJ, Steeves MA, Sahai I, Stumpel CTRM, Stegmann APA, Wheeler P, ... ... Brunner HG, et al. CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language. Nature Communications. 9: 4619. PMID 30397230 DOI: 10.1038/S41467-018-06014-6  1
2018 Haer-Wigman L, van der Schoot V, Feenstra I, Vulto-van Silfhout AT, Gilissen C, Brunner HG, Vissers LELM, Yntema HG. 1 in 38 individuals at risk of a dominant medically actionable disease. European Journal of Human Genetics : Ejhg. PMID 30291343 DOI: 10.1038/s41431-018-0284-2  1
2018 Olson HE, Jean-Marçais N, Yang E, Heron D, Tatton-Brown K, van der Zwaag PA, Bijlsma EK, Krock BL, Backer E, Kamsteeg EJ, Sinnema M, Reijnders MRF, Bearden D, Begtrup A, Telegrafi A, ... ... Brunner HG, et al. A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis. American Journal of Human Genetics. 103: 631. PMID 30290155 DOI: 10.1016/J.Ajhg.2018.09.002  1
2018 Mulhern MS, Stumpel C, Stong N, Brunner HG, Bier L, Lippa N, Riviello J, Rouhl RPW, Kempers M, Pfundt R, Stegmann APA, Kukolich MK, Telegrafi A, Lehman A, et al. NBEA: developmental disease gene with early generalized epilepsy phenotypes. Annals of Neurology. PMID 30269351 DOI: 10.1002/ana.25350  1
2018 Basilicata MF, Bruel AL, Semplicio G, Valsecchi CIK, Aktaş T, Duffourd Y, Rumpf T, Morton J, Bache I, Szymanski WG, Gilissen C, Vanakker O, Õunap K, Mittler G, van der Burgt I, ... ... Brunner HG, et al. De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation. Nature Genetics. PMID 30224647 DOI: 10.1038/s41588-018-0220-y  1
2018 Reijnders MRF, Miller KA, Alvi M, Goos JAC, Lees MM, de Burca A, Henderson A, Kraus A, Mikat B, de Vries BBA, Isidor B, Kerr B, Marcelis C, Schluth-Bolard C, Deshpande C, ... ... Brunner HG, et al. De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder. American Journal of Human Genetics. PMID 29861108 DOI: 10.1016/j.ajhg.2018.04.014  1
2018 Barbosa M, Joshi RS, Garg P, Martin-Trujillo A, Patel N, Jadhav B, Watson CT, Gibson W, Chetnik K, Tessereau C, Mei H, De Rubeis S, Reichert J, Lopes F, Vissers LELM, ... ... Brunner HG, et al. Identification of rare de novo epigenetic variations in congenital disorders. Nature Communications. 9: 2064. PMID 29802345 DOI: 10.1038/S41467-018-04540-X  1
2018 Snijders Blok L, Hiatt SM, Bowling KM, Prokop JW, Engel KL, Cochran JN, Bebin EM, Bijlsma EK, Ruivenkamp CAL, Terhal P, Simon MEH, Smith R, Hurst JA, McLaughlin H, ... ... Brunner HG, et al. De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder. Human Genetics. PMID 29740699 DOI: 10.1007/S00439-018-1887-Y  1
2018 Stevens SJ, van der Schoot V, Leduc MS, Rinne T, Lalani SR, Weiss MM, van Hagen JM, Lachmeijer AM, Stockler-Ipsiroglu SG, Lehman A, Brunner HG. De novo mutations in the SET nuclear proto-oncogene, encoding a component of the inhibitor of histone acetyltransferases (INHAT) complex in patients with non-syndromic intellectual disability. Human Mutation. PMID 29688601 DOI: 10.1002/humu.23541  1
2018 Olson HE, Jean-Marçais N, Yang E, Heron D, Tatton-Brown K, van der Zwaag PA, Bijlsma EK, Krock BL, Backer E, Kamsteeg EJ, Sinnema M, Reijnders MRF, Bearden D, Begtrup A, Telegrafi A, ... ... Brunner HG, et al. A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis. American Journal of Human Genetics. PMID 29656858 DOI: 10.1016/J.Ajhg.2018.03.005  1
2018 van der Schoot V, de Munnik S, Venselaar H, Elting M, Mancini GMS, Ravenswaaij-Arts CMA, Anderlid BM, Brunner HG, Stevens SJC. Toward clinical and molecular understanding of pathogenic variants in the ZBTB18 gene. Molecular Genetics & Genomic Medicine. PMID 29573576 DOI: 10.1002/mgg3.387  1
2018 Hazebroek MR, Krapels I, Verdonschot J, van den Wijngaard A, Vanhoutte E, Hoos M, Snijders L, van Montfort L, Witjens M, Dennert R, Crijns HJGM, Brunner-La Rocca HP, Brunner HG, Heymans S. Prevalence of Pathogenic Gene Mutations and Prognosis Do Not Differ in Isolated Left Ventricular Dysfunction Compared With Dilated Cardiomyopathy. Circulation. Heart Failure. 11: e004682. PMID 29540472 DOI: 10.1161/CIRCHEARTFAILURE.117.004682  1
2018 Brunner HG. 2017 Curt Stern Award Introduction: Nico Katsanis. American Journal of Human Genetics. 102: 354. PMID 29499160 DOI: 10.1016/j.ajhg.2018.01.013  0.01
2018 Verdonschot JAJ, Hazebroek MR, Derks KWJ, Barandiarán Aizpurua A, Merken JJ, Wang P, Bierau J, van den Wijngaard A, Schalla SM, Abdul Hamid MA, van Bilsen M, van Empel VPM, Knackstedt C, Brunner-La Rocca HP, Brunner HG, et al. Titin cardiomyopathy leads to altered mitochondrial energetics, increased fibrosis and long-term life-threatening arrhythmias. European Heart Journal. PMID 29377983 DOI: 10.1093/eurheartj/ehx808  1
2018 Lessel D, Schob C, Küry S, Reijnders MRF, Harel T, Eldomery MK, Coban-Akdemir Z, Denecke J, Edvardson S, Colin E, Stegmann APA, Gerkes EH, Tessarech M, Bonneau D, Barth M, ... ... Brunner HG, et al. De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder. American Journal of Human Genetics. 102: 196. PMID 29304375 DOI: 10.1016/J.Ajhg.2017.12.016  1
2017 White JJ, Mazzeu JF, Coban-Akdemir Z, Bayram Y, Bahrambeigi V, Hoischen A, van Bon BWM, Gezdirici A, Gulec EY, Ramond F, Touraine R, Thevenon J, Shinawi M, Beaver E, Heeley J, ... ... Brunner HG, et al. WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome. American Journal of Human Genetics. PMID 29276006 DOI: 10.1016/J.Ajhg.2017.10.002  1
2017 Jansen S, Hoischen A, Coe BP, Carvill GL, Van Esch H, Bosch DGM, Andersen UA, Baker C, Bauters M, Bernier RA, van Bon BW, Claahsen-van der Grinten HL, Gecz J, Gilissen C, Grillo L, ... ... Brunner HG, et al. A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency. European Journal of Human Genetics : Ejhg. PMID 29209020 DOI: 10.1038/S41431-017-0039-5  1
2017 Lamers IJC, Reijnders MRF, Venselaar H, Kraus A, Jansen S, de Vries BBA, Houge G, Gradek GA, Seo J, Choi M, Chae JH, van der Burgt I, Pfundt R, Letteboer SJF, ... ... Brunner HG, et al. Recurrent De Novo Mutations Disturbing the GTP/GDP Binding Pocket of RAB11B Cause Intellectual Disability and a Distinctive Brain Phenotype. American Journal of Human Genetics. PMID 29106825 DOI: 10.1016/J.Ajhg.2017.09.015  1
2017 Lessel D, Schob C, Küry S, Reinders MRF, Harel T, Eldomery MK, Coban-Akdemir Z, Denecke J, Edvardson S, Colin E, Stegmann APA, Gerkes EH, Tessarech M, Bonneau D, Barth M, ... ... Brunner HG, et al. De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder. American Journal of Human Genetics. 101: 716-724. PMID 29100085 DOI: 10.1016/J.Ajhg.2017.09.014  1
2017 Reijnders MRF, Janowski R, Alvi M, Self JE, van Essen TJ, Vreeburg M, Rouhl RPW, Stevens SJC, Stegmann APA, Schieving J, Pfundt R, van Dijk K, Smeets E, Stumpel CTRM, Bok LA, ... ... Brunner HG, et al. PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature. Journal of Medical Genetics. PMID 29097605 DOI: 10.1136/Jmedgenet-2017-104946  1
2017 Bruel AL, Bigoni S, Kennedy J, Whiteford M, Buxton C, Parmeggiani G, Wherlock M, Woodward G, Greenslade M, Williams M, St-Onge J, Ferlini A, Garani G, Ballardini E, van Bon BW, ... ... Brunner HG, et al. Expanding the clinical spectrum of recessive truncating mutations of KLHL7 to a Bohring-Opitz-like phenotype. Journal of Medical Genetics. PMID 29074562 DOI: 10.1136/jmedgenet-2017-104748  1
2017 Reijnders MRF, Ansor NM, Kousi M, Yue WW, Tan PL, Clarkson K, Clayton-Smith J, Corning K, Jones JR, Lam WWK, Mancini GMS, Marcelis C, Mohammed S, Pfundt R, Roifman M, ... ... Brunner HG, et al. RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes. American Journal of Human Genetics. 101: 466-477. PMID 28886345 DOI: 10.1016/J.Ajhg.2017.08.007  1
2017 Lelieveld SH, Wiel L, Venselaar H, Pfundt R, Vriend G, Veltman JA, Brunner HG, Vissers LELM, Gilissen C. Spatial Clustering of de Novo Missense Mutations Identifies Candidate Neurodevelopmental Disorder-Associated Genes. American Journal of Human Genetics. PMID 28867141 DOI: 10.1016/j.ajhg.2017.08.004  1
2017 Riemersma M, Hazebroek MR, Helderman-van den Enden ATJM, Salomons GS, Ferdinandusse S, Brouwers MCGJ, van der Ploeg L, Heymans S, Glatz JFC, van den Wijngaard A, Krapels IPC, Bierau J, Brunner HG. Propionic acidemia as a cause of adult-onset dilated cardiomyopathy. European Journal of Human Genetics : Ejhg. PMID 28853722 DOI: 10.1038/ejhg.2017.127  1
2017 Gabriele M, Vulto-van Silfhout AT, Germain PL, Vitriolo A, Kumar R, Douglas E, Haan E, Kosaki K, Takenouchi T, Rauch A, Steindl K, Frengen E, Misceo D, Pedurupillay CRJ, Stromme P, ... ... Brunner HG, et al. YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction. American Journal of Human Genetics. 100: 907-925. PMID 28575647 DOI: 10.1016/j.ajhg.2017.05.006  1
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 DOI: 10.18869/Acadpub.Ibj.21.5.294  1
2017 Ngcungcu T, Oti M, Sitek JC, Haukanes BI, Linghu B, Bruccoleri R, Stokowy T, Oakeley EJ, Yang F, Zhu J, Sultan M, Schalkwijk J, van Vlijmen-Willems IMJJ, von der Lippe C, Brunner HG, et al. Duplicated Enhancer Region Increases Expression of CTSB and Segregates with Keratolytic Winter Erythema in South African and Norwegian Families. American Journal of Human Genetics. PMID 28457472 DOI: 10.1016/J.Ajhg.2017.03.012  1
2017 Vissers LE, van Nimwegen KJ, Schieving JH, Kamsteeg EJ, Kleefstra T, Yntema HG, Pfundt R, van der Wilt GJ, Krabbenborg L, Brunner HG, van der Burg S, Grutters J, Veltman JA, Willemsen MA. A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 28333917 DOI: 10.1038/Gim.2017.1  1
2017 Oud MM, Tuijnenburg P, Hempel M, van Vlies N, Ren Z, Ferdinandusse S, Jansen MH, Santer R, Johannsen J, Bacchelli C, Alders M, Li R, Davies R, Dupuis L, Cale CM, ... ... Brunner HG, et al. Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome. American Journal of Human Genetics. PMID 28132690 DOI: 10.1016/j.ajhg.2017.01.013  1
2017 Vulto-van Silfhout AT, Gilissen C, Goeman JJ, Jansen S, van Amen-Hellebrekers CJ, van Bon BW, Koolen DA, Sistermans EA, Brunner HG, de Brouwer AP, de Vries BB. Quantification of Phenotype Information Aids the Identification of Novel Disease genes. Human Mutation. PMID 28074630 DOI: 10.1002/humu.23176  1
2016 Stevens SJ, van Essen AJ, van Ravenswaaij CM, Elias AF, Haven JA, Lelieveld SH, Pfundt R, Nillesen WM, Yntema HG, van Roozendaal K, Stegmann AP, Gilissen C, Brunner HG. Truncating de novo mutations in the Krüppel-type zinc-finger gene ZNF148 in patients with corpus callosum defects, developmental delay, short stature, and dysmorphisms. Genome Medicine. 8: 131. PMID 27964749 DOI: 10.1186/S13073-016-0386-9  1
2016 Redin C, Brand H, Collins RL, Kammin T, Mitchell E, Hodge JC, Hanscom C, Pillalamarri V, Seabra CM, Abbott MA, Abdul-Rahman OA, Aberg E, Adley R, Alcaraz-Estrada SL, Alkuraya FS, ... ... Brunner HG, et al. The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies. Nature Genetics. PMID 27841880 DOI: 10.1038/Ng.3720  1
2016 Joshi RS, Garg P, Zaitlen N, Lappalainen T, Watson CT, Azam N, Ho D, Li X, Antonarakis SE, Brunner HG, Buiting K, Cheung SW, Coffee B, Eggermann T, Francis D, et al. DNA Methylation Profiling of Uniparental Disomy Subjects Provides a Map of Parental Epigenetic Bias in the Human Genome. American Journal of Human Genetics. PMID 27569549 DOI: 10.1016/J.Ajhg.2016.06.032  1
2016 Kim JH, Shinde DN, Reijnders MR, Hauser NS, Belmonte RL, Wilson GR, Bosch DG, Bubulya PA, Shashi V, Petrovski S, Stone JK, Park EY, Veltman JA, Sinnema M, Stumpel CT, ... ... Brunner HG, et al. De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome. American Journal of Human Genetics. PMID 27545680 DOI: 10.1016/J.Ajhg.2016.06.029  1
2016 Lelieveld SH, Reijnders MR, Pfundt R, Yntema HG, Kamsteeg EJ, de Vries P, de Vries BB, Willemsen MH, Kleefstra T, Löhner K, Vreeburg M, Stevens SJ, van der Burgt I, Bongers EM, Stegmann AP, ... ... Brunner HG, et al. Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability. Nature Neuroscience. PMID 27479843 DOI: 10.1038/Nn.4352  1
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  1
2016 Witteveen JS, Willemsen MH, Dombroski TC, van Bakel NH, Nillesen WM, van Hulten JA, Jansen EJ, Verkaik D, Veenstra-Knol HE, van Ravenswaaij-Arts CM, Wassink-Ruiter JS, Vincent M, David A, Le Caignec C, Schieving J, ... ... Brunner HG, et al. Haploinsufficiency of MeCP2-interacting transcriptional co-repressor SIN3A causes mild intellectual disability by affecting the development of cortical integrity. Nature Genetics. PMID 27399968 DOI: 10.1038/Ng.3619  1
2016 Bolar NA, Golzio C, Živná M, Hayot G, Van Hemelrijk C, Schepers D, Vandeweyer G, Hoischen A, Huyghe JR, Raes A, Matthys E, Sys E, Azou M, Gubler MC, Praet M, ... ... Brunner H, et al. Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia. American Journal of Human Genetics. 99: 174-87. PMID 27392076 DOI: 10.1016/J.Ajhg.2016.05.028  1
2016 van Rooij IA, van der Zanden LF, Bongers EM, Renkema KY, Wijers CH, Thonissen M, Dokter EM, Marcelis CL, de Blaauw I, Wijnen MH, Hoogerbrugge PM, Bokkerink JP, Schreuder MF, Koster-Kamphuis L, Cornelissen EA, ... ... Brunner HG, et al. AGORA, a data- and biobank for birth defects and childhood cancer. Birth Defects Research. Part a, Clinical and Molecular Teratology. PMID 27150573 DOI: 10.1002/Bdra.23512  1
2016 Ockeloen CW, Khandelwal KD, Dreesen K, Ludwig KU, Sullivan R, van Rooij IA, Thonissen M, Swinnen S, Phan M, Conte F, Ishorst N, Gilissen C, Roa Fuentes L, van de Vorst M, Henkes A, ... ... Brunner HG, et al. Novel mutations in LRP6 highlight the role of WNT signaling in tooth agenesis. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 26963285 DOI: 10.1038/Gim.2016.10  1
2016 Stessman HA, Willemsen MH, Fenckova M, Penn O, Hoischen A, Xiong B, Wang T, Hoekzema K, Vives L, Vogel I, Brunner HG, van der Burgt I, Ockeloen CW, Schuurs-Hoeijmakers JH, Klein Wassink-Ruiter JS, et al. Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders. American Journal of Human Genetics. 98: 541-552. PMID 26942287 DOI: 10.1016/J.Ajhg.2016.02.004  1
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  1
2016 Schuurs-Hoeijmakers JH, Landsverk ML, Foulds N, Kukolich MK, Gavrilova RH, Greville-Heygate S, Hanson-Kahn A, Bernstein JA, Glass J, Chitayat D, Burrow TA, Husami A, Collins K, Wusik K, van der Aa N, ... ... Brunner HG, et al. Clinical delineation of the PACS1-related Syndrome-Report on 19 Patients. American Journal of Medical Genetics. Part A. PMID 26842493 DOI: 10.1002/Ajmg.A.37476  1
2016 Reijnders MR, Zachariadis V, Latour B, Jolly L, Mancini GM, Pfundt R, Wu KM, van Ravenswaaij-Arts CM, Veenstra-Knol HE, Anderlid BM, Wood SA, Cheung SW, Barnicoat A, Probst F, Magoulas P, ... ... Brunner HG, et al. De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations. American Journal of Human Genetics. PMID 26833328 DOI: 10.1016/J.Ajhg.2015.12.015  1
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  1
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  1
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  1
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  1
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  1
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  1
2015 Philippakis AA, Azzariti DR, Beltran S, Brookes AJ, Brownstein CA, Brudno M, Brunner HG, Buske OJ, Carey K, Doll C, Dumitriu S, Dyke SO, den Dunnen JT, Firth HV, Gibbs RA, et al. The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery. Human Mutation. 36: 915-21. PMID 26295439 DOI: 10.1002/Humu.22858  1
2015 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 caused by ANKRD11 aberrations. European Journal of Human Genetics : Ejhg. 23: 1270. PMID 26269249 DOI: 10.1038/Ejhg.2015.130  1
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  1
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  1
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  1
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  1
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  1
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  1
2015 Tønne E, Holdhus R, Stansberg C, Stray-Pedersen A, Petersen K, Brunner HG, Gilissen C, Hoischen A, Prescott T, Steen VM, Fiskerstrand T. Syndromic X-linked intellectual disability segregating with a missense variant in RLIM. European Journal of Human Genetics : Ejhg. PMID 25735484 DOI: 10.1038/Ejhg.2015.30  1
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  1
2015 Wijers CH, van Rooij IA, Rassouli R, Wijnen MH, Broens PM, Sloots CE, Brunner HG, de Blaauw I, Roeleveld N. Parental subfertility, fertility treatment, and the risk of congenital anorectal malformations. Epidemiology (Cambridge, Mass.). 26: 169-76. PMID 25563433 DOI: 10.1097/Ede.0000000000000226  1
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  1
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  1
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  1
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  1
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  1
2015 Feitz WFJ, van Rooij IALM, Bongers EMHF, Renkema KY, Knoers NVAM, Dokter EMJ, de Gier R, Kortmann B, Schreuder MF, Brunner HG, van der Zanden LFM, Roeleveld N. The aetiology of paediatric urology anomalies: Radboudumc AGORA data- en biobank | Kinderurologie en etiologie: Radboudumc AGORA data- en biobank Tijdschrift Voor Urologie. 5: 3-7.  1
2014 de Ligt J, Boone PM, Pfundt R, Vissers LE, 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. PMID 26258046 DOI: 10.1016/j.gdata.2014.06.009  1
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  1
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  1
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  1
2014 Cai DC, Fonteijn H, Guadalupe T, Zwiers M, Wittfeld K, Teumer A, Hoogman M, Arias-Vásquez A, Yang Y, Buitelaar J, Fernández G, Brunner HG, van Bokhoven H, Franke B, Hegenscheid K, et al. A genome-wide search for quantitative trait loci affecting the cortical surface area and thickness of Heschl's gyrus. Genes, Brain, and Behavior. 13: 675-85. PMID 25130324 DOI: 10.1111/Gbb.12157  1
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  1
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  1
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  1
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  1
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  1
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  1
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  1
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  1
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  1
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  1
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  1
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  1
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  1
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  1
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  1
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  1
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  1
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  1
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  1
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  1
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  1
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  1
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  1
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  1
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  1
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  1
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  1
2013 Cai D, Fonteijn H, Guadalupe T, Zwiers M, Hoogman M, Vásquez AA, Yang Y, Buitelaar J, Fernández G, Brunner HG, Bokhoven HV, Franke B, Fisher SE, Francks C, Hagoort P. Genome-wide search shows association between 10p15.2 and the volume of left Heschl's Gyrus F1000research. 4. DOI: 10.7490/F1000Research.1093633.1  1
2013 Athanasiou Y, Zavros M, Arsali M, Papazachariou L, Demosthenous P, Savva I, Voskarides K, Deltas C, Pierides A, Feriozzi S, Perrin A, West M, Nicholls K, Sunder-Plassmann G, Torras J, ... ... Brunner HG, et al. Genetic diseases and molecular genetics Nephrology Dialysis Transplantation. 29. DOI: 10.1093/Ndt/Gfu162  1
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  1
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  1
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  1
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  1
2012 Brunner HG. The variability of genetic disease. The New England Journal of Medicine. 367: 1350-2. PMID 22970918 DOI: 10.1056/Nejme1209699  1
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  1
2012 Veltman JA, Brunner HG. De novo mutations in human genetic disease. Nature Reviews. Genetics. 13: 565-75. PMID 22805709 DOI: 10.1038/nrg3241  1
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  1
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  1
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  1
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  1
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  1
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  1
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  1
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  1
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  1
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  1
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  1
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  1
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  1
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  1
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  1
2012 Verhoeven VMA, Egger JIM, Brunner HG. W01-04 - Psychopathology in rare genetic disorders European Psychiatry. 27: 1. DOI: 10.1016/S0924-9338(12)75671-7  1
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  1
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  1
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  1
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  1
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  1
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  1
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  1
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  1
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  1
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  1
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  1
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  1
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  1
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  1
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  1
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  1
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  1
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  1
2011 Willemsen MH, Beunders G, Callaghan M, de Leeuw N, Nillesen WM, Yntema HG, van Hagen JM, Nieuwint AW, Morrison N, Keijzers-Vloet ST, Hoischen A, Brunner HG, Tolmie J, Kleefstra T. Familial Kleefstra syndrome due to maternal somatic mosaicism for interstitial 9q34.3 microdeletions. Clinical Genetics. 80: 31-8. PMID 21204793 DOI: 10.1111/J.1399-0004.2010.01607.X  1
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  1
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  1
2011 Thompson MD, Nezarati MM, Gillessen-Kaesbach G, Meinecke P, Mornet E, Brun-Heath I, Squarcioni CP, Cole DEC, Siminovitch K, Hwang PA, Burnham WM, Munnich A, Brunner H. 13. Homozygosity mapping of Mabry syndrome: Identification of loci associated with alkaline phosphatase (ALP) gene over-expression or ALP protein over secretion Clinical Neurophysiology. 122. DOI: 10.1016/J.Clinph.2010.03.047  1
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  1
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  1
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  1
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  1
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  1
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  1
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  1
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  1
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  1
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  1
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  1
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  1
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  1
2010 Veltman JA, Brunner HG. Understanding variable expressivity in microdeletion syndromes. Nature Genetics. 42: 192-3. PMID 20179732 DOI: 10.1038/Ng0310-192  1
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  1
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  1
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  1
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  1
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  1
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  1
2010 Griffiths P, Strong K, Gardner S, Day R, Harrison C, Bronwyn K, Metcalfe K, Brunner H, Donnai D, Dallapiccola B, Devriendt K, Krajewska-Walasek M, Philip N, Clayton-Smith J. DYSCERNE: developing clinical management guidelines for selected dysmorphic syndromes Orphanet Journal of Rare Diseases. 5: 20. DOI: 10.1186/1750-1172-5-S1-P20  1
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  1
2010 Bon BWMv, Koolen DA, Brueton L, McMullan D, Lichtenbelt KD, Adès LC, Peters G, Gibson K, Moloney S, Novara F, Pramparo T, Bernardina BD, Zoccante L, Balottin U, Piazza F, ... ... Brunner HG, et al. Erratum: The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype European Journal of Human Genetics. 18: 1171-1171. DOI: 10.1038/Ejhg.2010.103  1
2010 Bon BWMV, Koolen DA, Brueton L, Mcmullan D, Lichtenbelt KD, Ades LC, Peters G, Gibson K, Novara F, Pramparo T, Bernardina BD, Zoccante L, Balottin U, Piazza F, Pecile V, ... ... Brunner HG, et al. Corrigendum to: The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype European Journal of Human Genetics. 18: 170-170. DOI: 10.1038/Ejhg.2009.200  1
2010 Verhoeven W, Leeuw ND, Egger J, Brunner H. PW01-165 - Identification of a de novo 22q11.2 distal deletion in an adult female referred for an anxiety disorder European Psychiatry. 25: 1583. DOI: 10.1016/S0924-9338(10)71564-9  1
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  1
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  1
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  1
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  1
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  1
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  1
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  1
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  1
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  1
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  1
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  1
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  1
2009 Thompson MD, Nezarati MM, Mabry CC, Deardorff MA, Gillessen-Kaesbach G, Meinecke P, Squarcioni CP, Legeai-Mallet L, Munnich A, Siminovitch K, Marcelis CL, Brunner HG, Hwang PA, Cole DEC. 7. Homozygosity mapping in Mabry syndrome: A syndrome with hyperphosphatasia with seizures, neurologic deficit and characteristic facial features Clinical Neurophysiology. 120. DOI: 10.1016/J.Clinph.2009.05.027  1
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  1
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  1
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  1
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  1
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  1
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  1
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  1
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  1
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  1
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  1
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  1
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  1
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  1
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  1
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  1
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  1
2008 de Kovel CG, Franke B, Hol FA, Lebrec JJ, Maassen B, Brunner H, Padberg GW, Platko J, Pauls D. Confirmation of dyslexia susceptibility loci on chromosomes 1p and 2p, but not 6p in a Dutch sib-pair collection. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics. 147: 294-300. PMID 17886254 DOI: 10.1002/Ajmg.B.30598  1
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  1
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  1
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  1
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  1
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  1
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  1
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  1
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  1
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  1
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  1
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  1
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  1
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  1
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  1
2007 Rinne T, Brunner HG, Van Bokhoven H. p63-associated disorders Cell Cycle. 6: 262-268. PMID 17224651  1
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  1
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  1
2007 Muehlebach M, Brunner HG, Cederbaum F, Maetzke T, Mutti R, Schnyder A, Stoller A, Wendeborn S, Wenger J, Boutsalis P, Cornes D, Friedmann AA, Glock J, Hofer U, Hole S, et al. Discovery and SAR of Pinoxaden: A New Broad Spectrum, Postemergence Cereal Herbicide Pesticide Chemistry: Crop Protection, Public Health, Environmental Safety. 101-110. DOI: 10.1002/9783527611249.ch10  1
2007 Brunner HG, Chemla P, Dobler MR, O'Sullivan AC, Pachlatko P, Pillonel C, Stierli D. Fungicidal properties of acivicin and its derivatives Acs Symposium Series. 948: 121-135.  1
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  1
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  1
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  1
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  1
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  1
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  1
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  1
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  1
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  1
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  1
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  1
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  1
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  1
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  1
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  1
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  1
2006 Verloes A, Bremond-Gignac D, Isidor B, David A, Baumann C, Leroy MA, Stevens R, Gillerot Y, Héron D, Héron B, Benzacken B, Lacombe D, Brunner H, Bitoun P. Blepharophimosis-mental retardation (BMR) syndromes: A proposed clinical classification of the so-called Ohdo syndrome, and delineation of two new BMR syndromes, one X-linked and one autosomal recessive. American Journal of Medical Genetics. Part A. 140: 1285-96. PMID 16700052 DOI: 10.1002/Ajmg.A.31270  0.01
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  1
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  1
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  1
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  1
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  1
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  1
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  1
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  1
2006 van Driel MA, Brunner HG. Bioinformatics methods for identifying candidate disease genes Human Genomics. DOI: 10.1186/1479-7364-2-6-429  1
2006 Reeuwijk Jv, Maugenre S, Elzen CVd, Verrips A, Bertini E, Muntoni F, Merlini L, Scheffer H, Brunner HG, Guicheney P, Bokhoven HV. Glyc-O-genetics of Walker-Warburg syndrome and related disorders Neuromuscular Disorders. 16: 678-678. DOI: 10.1016/J.Nmd.2006.05.118  1
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  1
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  1
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  1
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  1
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  1
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  1
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  1
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  1
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  1
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  1
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  1
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  1
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  1
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  1
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  1
2005 Vries BBd, Pfundt R, Leisink M, Koolen DA, Vissers LE, Smeets D, Kessel AGv, Schoenmakers EF, Brunner HG, Veltman JA. O1: Tiling resolution genome profiling in mental retardation European Journal of Medical Genetics. 48: 444. DOI: 10.1016/J.Ejmg.2005.10.003  1
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  1
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  1
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  1
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  1
2004 Brunner HG, Driel MAv. From syndrome families to functional genomics. Nature Reviews Genetics. 5: 545-551. PMID 15211356 DOI: 10.1038/Nrg1383  1
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  1
2003 Vissers LELM, Vries BBAd, Osoegawa K, Janssen IM, Feuth T, Choy CO, Straatman H, Vliet Wvd, Huys EHLPG, Rijk Av, Smeets D, Ravenswaaij-Arts CMAv, Knoers NV, Burgt Ivd, Jong PJd, ... Brunner HG, et al. Array-Based Comparative Genomic Hybridization for the Genomewide Detection of Submicroscopic Chromosomal Abnormalities American Journal of Human Genetics. 73: 1261-1270. PMID 14628292 DOI: 10.1086/379977  1
2003 de Bernabé DB, van Bokhoven H, van Beusekom E, Van den Akker W, Kant S, Dobyns WB, Cormand B, Currier S, Hamel B, Talim B, Topaloglu H, Brunner HG. A homozygous nonsense mutation in the fukutin gene causes a Walker-Warburg syndrome phenotype. Journal of Medical Genetics. 40: 845-8. PMID 14627679 DOI: 10.1136/Jmg.40.11.845  1
2003 de Jong DJ, Franke B, Naber AH, Willemen JJ, Heister AJ, Brunner HG, de Kovel CG, Hol FA. No evidence for involvement of IL-4R and CD11B from the IBD1 region and STAT6 in the IBD2 region in Crohn's disease. European Journal of Human Genetics : Ejhg. 11: 884-7. PMID 14571275 DOI: 10.1038/Sj.Ejhg.5201058  1
2003 Celli J, Bokhoven Hv, Brunner HG. Feingold syndrome: clinical review and genetic mapping. American Journal of Medical Genetics Part A. 122: 294-300. PMID 14518066 DOI: 10.1002/Ajmg.A.20471  1
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 DOI: 10.1016/S0888-7543(03)00150-2  1
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 DOI: 10.1136/Jmg.40.9.709  1
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  1
2003 Duijf PHG, Bokhoven Hv, Brunner HG. Pathogenesis of split-hand/split-foot malformation Human Molecular Genetics. 12. PMID 12668597 DOI: 10.1093/Hmg/Ddg090  1
2003 Driel MAv, Cuelenaere K, Kemmeren PPCW, Leunissen JAM, Brunner HG. A new web-based data mining tool for the identification of candidate genes for human genetic disorders European Journal of Human Genetics. 11: 57-63. PMID 12529706 DOI: 10.1038/Sj.Ejhg.5200918  1
2003 Hoogerbrugge N, Willems R, Krieken HJV, Kiemeney LA, Weijmans M, Nagengast FM, Arts N, Brunner HG, Ligtenberg MJL. Very low incidence of microsatellite instability in rectal cancers from families at risk for HNPCC. Clinical Genetics. 63: 64-70. PMID 12519374 DOI: 10.1034/J.1399-0004.2003.630110.X  1
2003 Hoogerbrugge N, Bult P, Widt-Levert LMd, Beex LV, Kiemeney LA, Ligtenberg MJL, Massuger LF, Boetes C, Manders P, Brunner HG. High prevalence of premalignant lesions in prophylactically removed breasts from women at hereditary risk for breast cancer. Journal of Clinical Oncology. 21: 41-45. PMID 12506168 DOI: 10.1200/Jco.2003.02.137  1
2002 van der Zwaag B, Hellemons AJ, Leenders WP, Burbach JP, Brunner HG, Padberg GW, Van Bokhoven H. PLEXIN-D1, a novel plexin family member, is expressed in vascular endothelium and the central nervous system during mouse embryogenesis. Developmental Dynamics : An Official Publication of the American Association of Anatomists. 225: 336-43. PMID 12412018 DOI: 10.1002/Dvdy.10159  1
2002 Beltrán-Valero de Bernabé D, Currier S, Steinbrecher A, Celli J, van Beusekom E, van der Zwaag B, Kayserili H, Merlini L, Chitayat D, Dobyns WB, Cormand B, Lehesjoki AE, Cruces J, Voit T, Walsh CA, ... ... Brunner HG, et al. Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome. American Journal of Human Genetics. 71: 1033-43. PMID 12369018 DOI: 10.1086/342975  1
2002 Brunner HG, Hamel BCJ, Bokhoven Hv. P63 gene mutations and human developmental syndromes. American Journal of Medical Genetics. 112: 284-290. PMID 12357472 DOI: 10.1002/Ajmg.10778  1
2002 Yntema HG, Poppelaars FA, Derksen E, Oudakker AR, Roosmalen Tv, Jacobs A, Obbema H, Brunner HG, Hamel BCJ, Bokhoven Hv. Expanding phenotype of XNP mutations: mild to moderate mental retardation. American Journal of Medical Genetics. 110: 243-247. PMID 12116232 DOI: 10.1002/Ajmg.10446  1
2002 Yntema HG, Kleefstra T, Oudakker AR, Romein T, Vries BBAd, Nillesen W, Sistermans EA, Brunner HG, Hamel BCJ, Bokhoven Hv. Low frequency of MECP2 mutations in mentally retarded males. European Journal of Human Genetics. 10: 487-490. PMID 12111644 DOI: 10.1038/Sj.Ejhg.5200836  1
2002 Martens J, Lumbroso S, Verhoef-Post M, Georget V, Richter-Unruh A, Szarras-Czapnik M, Romer TE, Brunner H, Themmen A, Sultan C. Mutant Luteinizing Hormone Receptors in a Compound Heterozygous Patient with Complete Leydig Cell Hypoplasia: Abnormal Processing Causes Signaling Deficiency The Journal of Clinical Endocrinology and Metabolism. 87: 2506-2513. PMID 12050206 DOI: 10.1210/Jcem.87.6.8523  1
2002 Tartaglia M, Kalidas K, Shaw A, Song X, Musat DL, van der Burgt I, Brunner HG, Bertola DR, Crosby A, Ion A, Kucherlapati RS, Jeffery S, Patton MA, Gelb BD. PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. American Journal of Human Genetics. 70: 1555-63. PMID 11992261 DOI: 10.1086/340847  1
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  1
2002 Veltman JA, Schoenmakers EFPM, Eussen BH, Janssen I, Merkx G, Cleef Bv, Ravenswaaij CMv, Brunner HG, Smeets D, Kessel AGv. High-throughput analysis of subtelomeric chromosome rearrangements by use of array-based comparative genomic hybridization. American Journal of Human Genetics. 70: 1269-1276. PMID 11951177 DOI: 10.1086/340426  1
2002 Ming JE, Kaupas ME, Roessler E, Brunner HG, Golabi M, Tekin M, Stratton RF, Sujansky E, Bale SJ, Muenke M. Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly. Human Genetics. 110: 297-301. PMID 11941477 DOI: 10.1007/S00439-002-0695-5  1
2002 Duijf PH, Vanmolkot KR, Propping P, Friedl W, Krieger E, McKeon F, Dötsch V, Brunner HG, van Bokhoven H. Gain-of-function mutation in ADULT syndrome reveals the presence of a second transactivation domain in p63. Human Molecular Genetics. 11: 799-804. PMID 11929852 DOI: 10.1093/Hmg/11.7.799  1
2002 Noordam C, Burgt CJAMvd, Brunner HG, Otten BJ. The relationship between clinical severity of Noonan's syndrome and growth, growth hormone (GH) secretion and response to GH treatment. Journal of Pediatric Endocrinology and Metabolism. 15: 175-180. PMID 11874182 DOI: 10.1515/Jpem.2002.15.2.175  1
2002 Richter-Unruh A, Martens JW, Verhoef-Post M, Wessels HT, Kors WA, Sinnecker GH, Boehmer A, Drop SL, Toledo SP, Brunner HG, Themmen AP. Leydig cell hypoplasia: cases with new mutations, new polymorphisms and cases without mutations in the luteinizing hormone receptor gene. Clinical Endocrinology. 56: 103-12. PMID 11849253 DOI: 10.1046/j.0300-0664.2001.01437.x  1
2002 Ming JE, Kaupas ME, Roessler E, Brunner HG, Golabi M, Tekin M, Stratton RF, Sujansky E, Bale SJ, Muenke M. Erratum: Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly (Hum Genet (2002) 110 (297-301)) Human Genetics. 111. DOI: 10.1007/S00439-002-0800-9  1
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 DOI: 10.1093/Hmg/10.24.2767  1
2001 Gong Y, Slee RB, Fukai N, Rawadi G, Roman-Roman S, Reginato AM, Wang H, Cundy T, Glorieux FH, Lev D, Zacharin M, Oexle K, Marcelino J, Suwairi W, Heeger S, ... ... Brunner HG, et al. LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development. Cell. 107: 513-23. PMID 11719191 DOI: 10.1016/S0092-8674(01)00571-2  1
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 PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. Nature Genetics. 29: 465-8. PMID 11704759 DOI: 10.1038/Ng772  1
2001 Wal Gvd, Otten BJ, Brunner HG, Burgt CJAMvd. 3-M syndrome: description of six new patients with review of the literature Clinical Dysmorphology. 10: 241-252. PMID 11665997 DOI: 10.1097/00019605-200110000-00002  1
2001 Boehmer ALM, Brüggenwirth H, Assendelft Cv, Otten BJ, Verleun-Mooijman MCT, Niermeijer MF, Brunner HG, Rouwé CW, Waelkens JJ, Oostdijk W, Kleijer WJ, Kwast THvd, Vroede MAd, Drop SLS. Genotype versus phenotype in families with androgen insensitivity syndrome. The Journal of Clinical Endocrinology and Metabolism. 86: 4151-4160. PMID 11549642 DOI: 10.1210/Jcem.86.9.7825  1
2001 Buggenhout GJCMv, Ravenswaaij-Arts CMAv, Mieloo H, Syrrou M, Hamel BCJ, Brunner HG, Fryns JP. Dysmorphology and mental retardation: molecular cytogenetic studies in dysmorphic mentally retarded patients Annales De Genetique. 44: 89-92. PMID 11522247 DOI: 10.1016/S0003-3995(01)01044-9  1
2001 van Bokhoven H, Hamel BC, Bamshad M, Sangiorgi E, Gurrieri F, Duijf PH, Vanmolkot KR, van Beusekom E, van Beersum SE, Celli J, Merkx GF, Tenconi R, Fryns JP, Verloes A, Newbury-Ecob RA, ... ... Brunner HG, et al. p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation. American Journal of Human Genetics. 69: 481-92. PMID 11462173 DOI: 10.1086/323123  1
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 DOI: 10.1086/321263  1
2001 Cormand B, Pihko H, Bayés M, Valanne L, Santavuori P, Talim B, Gershoni-Baruch R, Ahmad A, van Bokhoven H, Brunner HG, Voit T, Topaloglu H, Dobyns WB, Lehesjoki AE. Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain disease. Neurology. 56: 1059-69. PMID 11320179 DOI: 10.1212/Wnl.56.8.1059  1
2001 McGrath JA, Duijf PH, Doetsch V, Irvine AD, de Waal R, Vanmolkot KR, Wessagowit V, Kelly A, Atherton DJ, Griffiths WA, Orlow SJ, van Haeringen A, Ausems MG, Yang A, McKeon F, ... ... Brunner HG, et al. Hay-Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63. Human Molecular Genetics. 10: 221-9. PMID 11159940 DOI: 10.1093/Hmg/10.3.221  1
2001 Buggenhout GJCMv, Trommelen JCM, Brunner HG, Hamel BCJ, Fryns J-. Clinical Etiological Survey of a Population of 471 Mentally Retarded Patients Living in an Institution in the Southern Part of the Netherlands Public Health Genomics. 4: 109-122. DOI: 10.1159/000051168  1
2001 Brunner HG. Annual Review of Genomics and Human Genetics European Journal of Human Genetics. 9: 973-973. DOI: 10.1038/Sj.Ejhg.5200737  0.01
2000 Burgt CJAMvd, Brunner HG. Genetic heterogeneity in Noonan syndrome: Evidence for an autosomal recessive form American Journal of Medical Genetics. 94: 46-51. PMID 10982482 DOI: 10.1002/1096-8628(20000904)94:1<46::Aid-Ajmg10>3.0.Co;2-I  1
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  1
2000 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 tyrosine kinase causes autosomal recessive Robinow syndrome. Nature Genetics. 25: 423-6. PMID 10932187 DOI: 10.1038/78113  1
2000 Crow YJ, Jackson AP, Roberts E, van Beusekom E, Barth P, Corry P, Ferrie CD, Hamel BC, Jayatunga R, Karbani G, Kálmánchey R, Kelemen A, King M, Kumar R, Livingstone J, ... ... Brunner HG, et al. Aicardi-Goutières syndrome displays genetic heterogeneity with one locus (AGS1) on chromosome 3p21. American Journal of Human Genetics. 67: 213-21. PMID 10827106 DOI: 10.1086/302955  1
2000 Admiraal RJ, Brunner HG, Dijkstra TL, Huygen PL, Cremers CW. Hearing loss in the nonocular Stickler syndrome caused by a COL11A2 mutation. The Laryngoscope. 110: 457-61. PMID 10718438 DOI: 10.1097/00005537-200003000-00025  1
2000 Celli J, Van Beusekom E, Hennekam RCM, Gallardo ME, Smeets DFCM, Rodríguez De Córdoba S, Innis JW, Frydman M, König R, Kingston H, Tolmie J, Govaerts LCP, Van Bokhoven H, Brunner HG. Familial syndromic esophageal atresia maps to 2p23-p24 American Journal of Human Genetics. 66: 436-444. PMID 10677303 DOI: 10.1086/302779  1
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  1
1999 van der Burgt I, Thoonen G, Roosenboom N, Assman-Hulsmans C, Gabreels F, Otten B, Brunner HG. Patterns of cognitive functioning in school-aged children with Noonan syndrome associated with variability in phenotypic expression. The Journal of Pediatrics. 135: 707-13. PMID 10586173 DOI: 10.1016/S0022-3476(99)70089-2  0.01
1999 McGuirt WT, Prasad SD, Griffith AJ, Kunst HP, Green GE, Shpargel KB, Runge C, Huybrechts C, Mueller RF, Lynch E, King MC, Brunner HG, Cremers CW, Takanosu M, Li SW, et al. Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13). Nature Genetics. 23: 413-9. PMID 10581026 DOI: 10.1038/70516  1
1999 Brunner HG, Otten BJ. Precocious puberty in boys. The New England Journal of Medicine. 341: 1763-1765. PMID 10580079 DOI: 10.1056/Nejm199912023412311  1
1999 Celli J, Duijf P, Hamel BC, Bamshad M, Kramer B, Smits AP, Newbury-Ecob R, Hennekam RC, Van Buggenhout G, van Haeringen A, Woods CG, van Essen AJ, de Waal R, Vriend G, Haber DA, ... ... Brunner HG, et al. Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome. Cell. 99: 143-53. PMID 10535733 DOI: 10.1016/S0092-8674(00)81646-3  1
1999 Gallardo ME, Lopez-Rios J, Fernaud-Espinosa I, Granadino B, Sanz R, Ramos C, Ayuso C, Seller MJ, Brunner HG, Bovolenta P, Rodríguez de Córdoba S. Genomic cloning and characterization of the human homeobox gene SIX6 reveals a cluster of SIX genes in chromosome 14 and associates SIX6 hemizygosity with bilateral anophthalmia and pituitary anomalies. Genomics. 61: 82-91. PMID 10512683 DOI: 10.1006/Geno.1999.5916  1
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  1
1999 Annunen S, Körkkö J, Czarny M, Warman ML, Brunner HG, Kääriäinen H, Mulliken JB, Tranebjærg L, Brooks DG, Cox GF, Cruysberg JR, Curtis MA, Davenport SLH, Friedrich CA, Kaitila I, et al. Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes American Journal of Human Genetics. 65: 974-983. PMID 10486316 DOI: 10.1086/302585  1
1999 Hoogerwaard EM, Bakker E, Ippel PF, Oosterwijk JC, Majoor-Krakauer DF, Leschot NJ, Van Essen AJ, Brunner HG, van der Wouw PA, Wilde AA, de Visser M. Signs and symptoms of Duchenne muscular dystrophy and Becker muscular dystrophy among carriers in The Netherlands: a cohort study. Lancet (London, England). 353: 2116-9. PMID 10382696 DOI: 10.1016/S0140-6736(98)10028-4  1
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  1
1999 Ligtenberg MJ, Siers M, Themmen APN, Hanselaar TG, Willemsen W, Brunner HG. Analysis of mutations in genes of the follicle-stimulating hormone receptor signaling pathway in ovarian granulosa cell tumors. The Journal of Clinical Endocrinology and Metabolism. 84: 2233-2234. PMID 10372736 DOI: 10.1210/Jcem.84.6.5739  1
1999 Cruysberg JRM, Ravenswaaij-Arts CMAv, Pinckers AJLG, Roddi R, Brunner HG. Craniosynostosis associated with ectopia lentis in monozygotic twin sisters. American Journal of Medical Genetics. 82: 201-205. PMID 10215540 DOI: 10.1002/(Sici)1096-8628(19990129)82:3<201::Aid-Ajmg1>3.0.Co;2-E  1
1999 Perveen R, Hart-Holden N, Dixon MJ, Wiszniewski W, Fryer AE, Brunner HG, Pinkners AJLH, Beersum SECV, Black GCM. Refined genetic and physical localization of the Wagner disease (WGN1) locus and the genes CRTL1 and CSPG2 to a 2- to 2.5-cM region of chromosome 5q14.3. Genomics. 57: 219-226. PMID 10198161 DOI: 10.1006/Geno.1999.5766  1
1999 Ligtenberg MJ, Hogervorst FB, Willems HW, Arts PJ, Brink G, Hageman S, Bosgoed EA, Van der Looij E, Rookus MA, Devilee P, Vos EM, Wigbout G, Struycken PM, Menko FH, Rutgers EJ, ... ... Brunner HG, et al. Characteristics of small breast and/or ovarian cancer families with germline mutations in BRCA1 and BRCA2. British Journal of Cancer. 79: 1475-8. PMID 10188893 DOI: 10.1038/Sj.Bjc.6690235  1
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  1
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  1
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 DOI: 10.1007/S004390050912  1
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  1
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  1
1999 Tuerlings JHAM, Otten BJ, Hamilton CJCM, Brunner HG. Radial defects and testicular dysfunction: a new syndrome? Clinical Dysmorphology. 8: 203-205. DOI: 10.1097/00019605-199907000-00009  1
1998 Themmen APN, Martens JWM, Brunner HG. Activating and inactivating mutations in LH receptors Molecular and Cellular Endocrinology. 145: 137-142. PMID 9922110 DOI: 10.1016/S0303-7207(98)00180-4  1
1998 Cunliffe HE, McNoe LA, Ward TA, Devriendt K, Brunner HG, Eccles MR. The prevalence of PAX2 mutations in patients with isolated colobomas or colobomas associated with urogenital anomalies Journal of Medical Genetics. 35: 806-812. PMID 9783702 DOI: 10.1136/Jmg.35.10.806  1
1998 Wijnen JT, Vasen HFA, Khan PM, Zwinderman AH, Van Der Klift H, Mulder A, Tops C, Møller P, Fodde R, Menko F, Taal B, Nagengast F, Brunner H, Kleibeuker J, Sijmons R, et al. Clinical findings with implications for genetic testing in families with clustering of colorectal cancer New England Journal of Medicine. 339: 511-518. PMID 9709044 DOI: 10.1056/Nejm199808203390804  1
1998 Abeling NGGM, Gennip AHv, Cruchten AGv, Overmars H, Brunner HG. Monoamine oxidase A deficiency: Biogenic amine metabolites in random urine samples Journal of Neural Transmission-Supplement. 52: 9-15. PMID 9564603 DOI: 10.1007/978-3-7091-6499-0_2  1
1998 Cruysberg JRM, Draaijer RW, Pinckers A, Brunner HG. Congenital corneal anesthesia in children with the VACTERL association. American Journal of Ophthalmology. 125: 96-98. PMID 9437320 DOI: 10.1016/S0002-9394(99)80241-4  1
1998 Lenders JW, Brunner HG, Murphy DL, Eisenhofer G. Genetic deficiencies of monoamine oxidase enzymes: a key to understanding the function of the enzymes in humans. Advances in Pharmacology (San Diego, Calif.). 42: 297-301. PMID 9327899 DOI: 10.1016/S1054-3589(08)60748-6  1
1997 Clayton-Smith J, Kerr B, Brunner H, Tranebjaerg L, Magee A, Hennekam RCM, Mueller RF, Brueton L, Super M, Steen-Johnsen J, Donnai D. Macrocephaly with cutis marmorata, haemangioma and syndactyly--a distinctive overgrowth syndrome. Clinical Dysmorphology. 6: 291-302. PMID 9354837 DOI: 10.1097/00019605-199710000-00001  1
1997 Polinkovsky A, Robin NH, Thomas JT, Irons M, Lynn A, Goodman FR, Reardon W, Kant SG, Brunner HG, van der Burgt I, Chitayat D, McGaughran J, Donnai D, Luyten FP, Warman ML. Mutations in CDMP1 cause autosomal dominant brachydactyly type C. Nature Genetics. 17: 18-9. PMID 9288091 DOI: 10.1038/Ng0997-18  1
1997 van Bokhoven H, Kissing J, Schepens M, van Beersum S, Simons A, Riegman P, McMahon JA, McMahon AP, Brunner HG. Assignment of WNT7B to human chromosome band 22q13 by in situ hybridization. Cytogenetics and Cell Genetics. 77: 288-9. PMID 9284940 DOI: 10.1159/000134600  1
1997 Steensel MAMv, Buma P, Malefijt MCdW, Hoogen FHJvd, Brunner HG. Oto- spondylo-megaepiphyseal dysplasia (OSMED): clinical description of three patients homozygous for a missense mutation in the COL11A2 gene. American Journal of Medical Genetics. 70: 315-323. PMID 9188673 DOI: 10.1002/(Sici)1096-8628(19970613)70:3<315::Aid-Ajmg19>3.0.Co;2-O  0.01
1997 Freihofer HPM, Walji S, Brunner HG. Ectodermal dysplasia, cleft lip/palate, and severe cutaneous and osseous syndactyly in a mentally retarded girl: A new multiple malformation syndrome American Journal of Medical Genetics. 70: 211-215. PMID 9188655 DOI: 10.1002/(Sici)1096-8628(19970613)70:3<211::Aid-Ajmg1>3.0.Co;2-Z  0.01
1997 Ensink RJH, Cremers CWRJ, Brunner HG. Congenital conductive hearing loss in the lacrimoauriculodentodigital syndrome Archives of Otolaryngology-Head & Neck Surgery. 123: 97-99. PMID 9006512 DOI: 10.1001/Archotol.1997.01900010107017  1
1996 Ensink RJH, Marres HAM, Brunner HG, Cremers CWRJ. Hearing loss in the Saethre-Chotzen syndrome. Journal of Laryngology and Otology. 110: 952-957. PMID 8977861 DOI: 10.1017/S0022215100135443  1
1996 Lindeman-Kusse MC, Haeringen AV, Hoorweg-Nijman JJG, Brunner HG. Cytogenetic abnormalities in two new patients with Pitt-Rogers-Danks phenotype American Journal of Medical Genetics. 66: 104-112. PMID 8957526 DOI: 10.1002/(Sici)1096-8628(19961202)66:1<104::Aid-Ajmg28>3.0.Co;2-V  0.01
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 DOI: 10.1093/Hmg/5.9.1229  1
1996 Ende JJVD, Burgt CJamVD, Jansweijer MCe, Hamel BCj, Brunner HG. Ectrodactyly of lower limbs, congenital heart defect and characteristic facies in four unrelated Dutch patients: a new association Clinical Dysmorphology. 5: 1-7. PMID 8867653 DOI: 10.1097/00019605-199601000-00001  1
1996 Themmen AP, Brunner HG. Luteinizing hormone receptor mutations and sex differentiation European Journal of Endocrinology. 134: 533-540. PMID 8664969 DOI: 10.1530/Eje.0.1340533  0.01
1996 Lenders JW, Eisenhofer G, Abeling NG, Berger W, Murphy DL, Konings CH, 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 phenotypes. The Journal of Clinical Investigation. 97: 1010-9. PMID 8613523 DOI: 10.1172/Jci118492  1
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  1
1995 Lin AE, Gorlin RJ, Lurie IW, Brunner HG, van der Burgt I, Naumchik IV, Rumyantseva NV, Stengel-Rutkowski S, Rosenbaum K, Meinecke P. Further delineation of the branchio-oculo-facial syndrome. American Journal of Medical Genetics. 56: 42-59. PMID 7747785 DOI: 10.1002/Ajmg.1320560112  1
1995 Eisenhofer G, Friberg P, Pacak K, Goldstein DS, Murphy DL, Tsigos C, Quyyumi AA, Brunner HG, Lenders JW. Plasma metadrenalines: do they provide useful information about sympatho-adrenal function and catecholamine metabolism? Clinical Science (London, England : 1979). 88: 533-42. PMID 7614812 DOI: 10.1042/Cs0880533  1
1994 Linssen WHJP, Bent MJVd, Brunner HG, Poels PJE. Deafness, sensory neuropathy, and ovarian dysgenesis: A new syndrome or a broader spectrum of Perrault syndrome? American Journal of Medical Genetics. 51: 81-82. PMID 8030674 DOI: 10.1002/Ajmg.1320510117  0.01
1994 LemmInk HH, KIuIjtmans LAJ, Brunner HG, Schröder CH, Knebelmann B, JelInková E, Oost BAv, Monnens LAH, Smeets HJM. Aberrant splicing of the COL4A5 gene in patients with Alport syndrome Human Molecular Genetics. 3: 317-322. PMID 8004101 DOI: 10.1093/Hmg/3.2.317  1
1994 Lemmink HH, MochlzukJ T, Heuvel LPWJvd, Schröder CH, Barrientos A, Monnens LAH, Oost BAv, Brunner HG, Reeders ST, Smeets HJM. Mutations in the type IV collagen α3 (COL4A3) gene in autosomal recessive Alport syndrome Human Molecular Genetics. 3: 1269-1273. PMID 7987301 DOI: 10.1093/Hmg/3.8.1269  1
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  1
1994 Abeling NGGM, Gennip AHv, Overmars H, Oost BAv, Brunner HG. Biogenic amine metabolite patterns in the urine of monoamine oxidase A-deficient patients. A possible tool for diagnosis Journal of Inherited Metabolic Disease. 17: 339-341. PMID 7807947 DOI: 10.1007/Bf00711824  1
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  1
1993 Jansen G, Coerwinkel-Driessen M, Nillesen W, Brunner H, Wieringa B. Dinucleotide repeat polymorphism at locus D19S207, close to the myotonic dystrophy (DM) gene Human Molecular Genetics. 2: 333. PMID 8499928 DOI: 10.1093/Hmg/2.3.333  1
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  1
1993 Cremers CWRJ, Marres HAM, Brunner HG. Neo-oval window technique and myringo-chorda-vestibulopexy in the BOR syndrome. Laryngoscope. 103: 1186-1189. PMID 8412460 DOI: 10.1288/00005537-199310000-00021  1
1993 Brunner HG, Hulsebos T, Steijlen PM, Kinderen DJd, Steen Avd, Hamel BCJ. Exclusion of the neurofibromatosis 1 locus in a family with inherited café-au-lait spots. American Journal of Medical Genetics. 46: 472-474. PMID 8357027 DOI: 10.1002/Ajmg.1320460428  1
1993 Maat-Kievit A, Brunner HG, Maaswinkel-Mooij P. Two additional cases of the Ohdo blepharophimosis syndrome. American Journal of Medical Genetics. 47: 901-906. PMID 8279489 DOI: 10.1002/Ajmg.1320470618  0.01
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  1
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  1
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 DOI: 10.1126/Science.8211186  1
1992 Semmekrot BA, Haraldsson A, Weemaes CMR, Smeets DFCM, Geven WB, Brunner HG. Absent thumb, immune disorder, and congenital anemia presenting with hydrops fetalis. American Journal of Medical Genetics. 42: 736-740. PMID 1632450 DOI: 10.1002/Ajmg.1320420523  0.01
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  1
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  1
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  1
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 DOI: 10.1212/Wnl.41.1.80  1
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 DOI: 10.1093/Brain/114.5.2303  1
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 DOI: 10.1016/0888-7543(91)90250-I  1
1991 Speleman F, Leroy JG, Roy NV, Paepe AD, Suijkerbuijk R, Brunner H, Looijenga L, Verschraegen-Spae M, Orye E. Pallister‐killian syndrome: Characterization of the isochromosome 12p by fluorescent In Situ hybridization American Journal of Medical Genetics. 41: 381-387. PMID 1789295 DOI: 10.1002/Ajmg.1320410321  0.01
1991 Dreesen JCFM, Smits A, Brunner H. Risk calculations in the fragile-X syndrome. American Journal of Medical Genetics. 40: 523-523. PMID 1746622 DOI: 10.1002/Ajmg.1320400432  0.04
1991 Hermens R, Coerwinkel M, Brunner H, Smeets H, Wieringa B. MspI RFLP at 19q13.3 identified by the anonymous DNA sequence pX75B (D19S112). Nucleic Acids Research. 19: 1726-1726. PMID 1709283 DOI: 10.1093/Nar/19.7.1726  1
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 DOI: 10.1111/J.1749-6632.1991.Tb19586.X  1
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  1
1990 Willems PJ, Dijkstra I, Van der Auwera BJ, Vits L, Coucke P, Raeymaekers P, Van Broeckhoven C, Consalez GG, Freeman SB, Warren ST, Brouwer OF, Brunner HG, Renier WO, Van Elsen AF, Dumon JE. Assignment of X-linked hydrocephalus to Xq28 by linkage analysis Genomics. 8: 367-370. PMID 1979056 DOI: 10.1016/0888-7543(90)90294-5  1
1990 Breuning MH, Snijdewint FG, Brunner H, Verwest A, Ijdo JW, Saris JJ, Dauwerse JG, Blonden L, Keith T, Callen DF. Map of 16 polymorphic loci on the short arm of chromosome 16 close to the polycystic kidney disease gene (PKD1). Journal of Medical Genetics. 27: 603-13. PMID 1978860 DOI: 10.1136/Jmg.27.10.603  1
1990 Temple IK, Brunner H, Jones B, Burn J, Baraitser M. Midline facial defects with ocular colobomata. American Journal of Medical Genetics. 37: 23-27. PMID 1700608 DOI: 10.1002/Ajmg.1320370107  0.01
1990 Schröder CH, Brunner H, Monnens LAH. Genetic features of Alport's syndrome. Contributions to Nephrology. 80: 3-8. DOI: 10.1159/000418621  1
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  1
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 DOI: 10.1016/0888-7543(89)90027-X  1
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 DOI: 10.1007/Bf00285165  1
1989 Smeets H, Coerwinkel M, Schepens J, Brunner H, Schonk D, Ropers HH, Wieringa B. EcoRI RFLP at 19q13.1 identified by the anonymous DNA sequence p58B18 [D19S32]. Nucleic Acids Research. 17: 3628. PMID 2566984 DOI: 10.1093/Nar/17.9.3628  0.84
1989 Smeets H, Schepens J, Coerwinkel M, Brunner H, Schonk D, Ropers HH, Wieringa B. TaqI RFLP at 19q13.1 identified by the anonymous DNA sequence p5B18 [D19S28]. Nucleic Acids Research. 17: 3325. PMID 2566967 DOI: 10.1093/Nar/17.8.3325  0.76
1989 Smeets H, Markslag P, Hulsebos T, Brunner H, Schonk D, Ropers HH, Wieringa B. MspI RFLP at 19cen-q12 identified by the anonymous DNA sequence pPM17.4 [D19S29]. Nucleic Acids Research. 17: 3324. PMID 2471151 DOI: 10.1093/Nar/17.8.3324  0.68
1989 Smeets H, Schepens J, Coerwinkel M, Brunner H, Schonk D, Ropers HH, Wieringa B. MspI RFLP at 19q12-q13.1 identified by the anonymous DNA sequence p20B18 [D19S30]. Nucleic Acids Research. 17: 3323. PMID 2471150 DOI: 10.1093/Nar/17.8.3323  0.52
1988 Smeets B, Poddighe J, Brunner H, Ropers H, Wieringa B. Tight linkage between myotonic dystrophy and apolipoprotein E genes revealed with allele-specific oligonucleotides. Human Genetics. 80: 49-52. PMID 3417303 DOI: 10.1007/Bf00451455  1
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  1
1987 Breuning MH, Brunner H, Saris JJ, Ommen GJBV, Reeders ST, Ijdo JW, Verwest A, Pearson PL. Improved early diagnosis of adult polycystic kidney disease with flanking DNA markers. The Lancet. 330: 1359-1361. PMID 2890952 DOI: 10.1016/S0140-6736(87)91256-6  1
1987 Smeets H, Markslag P, Bril J, Hulsebos T, Brunner H, Schonk D, Ropers HH, Wieringa B. EcoRI RFLP at 19 cen-q13.2 identified by the anonymous DNA sequence pPM6.7 (D19S18). Nucleic Acids Research. 15: 8120. PMID 2890138 DOI: 10.1093/Nar/15.19.8120  0.56
1987 Schepens J, Hulsebos T, Smeets H, Coerwinkel M, Brunner H, Ropers HH, Wieringa B. A locus at 19cen-19q13.2 (D19S15) containing three RFLPs linked to myotonic dystrophy (DM) is recognized by probe pJSB6. Nucleic Acids Research. 15: 3193. PMID 2882485 DOI: 10.1093/Nar/15.7.3193  0.56
1987 Schepens J, Smeets H, Hulsebos T, Brunner H, Wieringa B. Isolation of a polymorphic DNA sequence pJSB11 (D19S16) from the human chromosome 19cen-q13.2 region linked to the myotonic dystrophy (DM) gene. Nucleic Acids Research. 15: 3192-3192. PMID 2882484 DOI: 10.1093/Nar/15.7.3192  1
1987 Friedrich U, Brunner H, Smeets D, Lambermon E, Ropers H. Three-point linkage analysis employing C3 and 19cen markers assigns the myotonic dystrophy gene to 19q Human Genetics. 75: 291-293. PMID 2881880 DOI: 10.1007/Bf00281077  1
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