20122020

Research output per year

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Research Output

2020

A mutation update for the FLNC gene in myopathies and cardiomyopathies

Verdonschot, J. A. J., Vanhoutte, E. K., Claes, G. R. F., van den Enden, A. T. J. M. H., Hoeijmakers, J. G. J., Hellebrekers, D. M. E. I., Haan, A. D., Christiaans, I., Deprez, R. H. L., Boen, H. M., Craenenbroeck, E. M. V., Loeys, B. L., Hoedemaekers, Y. M., Marcelis, C., Kempers, M., Brusse, E., Waning, J. I., Baas, A. F., Dooijes, D., Asselbergs, F. W. & 6 others, Barge-Schaapveld, D. Q. C. M., Koopman, P., Wijngaard, A. V. D., Heymans, S. R. B., Krapels, I. P. C. & Brunner, H. G., Jun 2020, In : Human Mutation. 41, 6, p. 1091-1111 21 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Maternal risk factors for the VACTERL association: A EUROCAT case-control study

van de Putte, R., Van Rooij, I. A. L. M., Haanappel, C. P., Marcelis, C. L. M., Brunner, H. G., Addor, M-C., Cavero-Carbonell, C., Dias, C. M., Draper, E. S., Etxebarriarteun, L., Gatt, M., Khoshnood, B., Kinsner-Ovaskainen, A., Klungsoyr, K., Kurinczuk, J. J., Latos-Bielenska, A., Luyt, K., O'Mahony, M. T., Miller, N., Mullaney, C. & 18 others, Nelen, V., Neville, A. J., Perthus, I., Pierini, A., Randrianaivo, H., Rankin, J., Rissmann, A., Rouget, F., Schaub, B., Tucker, D., Wellesley, D., Wiesel, A., Zymak-Zakutnia, N., Loane, M., Barisic, I., De Walle, H. E. K., Bergman, J. E. H. & Roeleveld, N., 15 May 2020, In : Birth Defects Research. 112, 9, p. 688-698 11 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Mutations in PDLIM5 are rare in dilated cardiomyopathy but are emerging as potential disease modifiers

Verdonschot, J. A. J., Robinson, E. L., James, K. N., Mohamed, M. W., Claes, G. R. F., Casas, K., Vanhoutte, E. K., Hazebroek, M. R., Kringlen, G., Pasierb, M. M., van den Wijngaard, A., Glatz, J. F. C., Heymans, S. R. B., Krapels, I. P. C., Nahas, S., Brunner, H. G. & Szklarczyk, R., 8 Feb 2020, In : Molecular genetics & genomic medicine. 8, 2, 14 p., e1049.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Mutations in RPSA and NKX2-3 link development of the spleen and intestinal vasculature

Kerkhofs, C., Stevens, S. J. C., Faust, S. N., Rae, W., Williams, A. P., Wurm, P., Ostern, R., Fockens, P., Wuerfel, C., Laass, M., Kokke, F., Stegmann, A. P. A. & Brunner, H. G., Jan 2020, In : Human Mutation. 41, 1, p. 196-202 7 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access
2019

1 in 38 individuals at risk of a dominant medically actionable disease

Haer-Wigman, L., van der Schoot, V., Feenstra, I., Vulto-van Silfhout, A. T., Gilissen, C., Brunner, H. G., Vissers, L. E. L. M. & Yntema, H. G., Feb 2019, In : European Journal of Human Genetics. 27, 2, p. 325-330 6 p.

Research output: Contribution to journalArticleAcademicpeer-review

Assessment of fibroblast nuclear morphology aids interpretation of LMNA variants

van Tienen, F., Lindsey, P., Kamps, M., Krapels, I., Ramaekers, F., Brunner, H., van den Wijngaard, A. & Broers, J., Mar 2019, In : European Journal of Human Genetics. 27, 3, p. 389–399 11 p.

Research output: Contribution to journalArticleAcademicpeer-review

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language (vol 9, 4619, 2018)

DDD Study, 15 Feb 2019, In : Nature Communications. 10, p. 1-4 4 p., 883.

Research output: Contribution to journalErratum / corrigendumAcademic

Open Access

De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism

Diets, I. J., van der Donk, R., Baltrunaite, K., Waanders, E., Reijnders, M. R. F., Dingemans, A. J. M., Pfundt, R., Vulto-van Silfhout, A. T., Wiel, L., Gilissen, C., Thevenon, J., Perrin, L., Afenjar, A., Nava, C., Keren, B., Bartz, S., Peri, B., Beunders, G., Verbeek, N., van Gassen, K. & 18 others, Thiffault, I., Cadieux-Dion, M., Huerta-Saenz, L., Wagner, M., Konstantopoulou, V., Vodopiutz, J., Griese, M., Boel, A., Callewaert, B., Brunner, H. G., Kleefstra, T., Hoogerbrugge, N., de Vries, B. B. A., Hwa, V., Dauber, A., Hehir-Kwa, J. Y., Kuiper, R. P. & Jongmans, M. C. J., 4 Apr 2019, In : American Journal of Human Genetics. 104, 4, p. 758-766 9 p.

Research output: Contribution to journalArticleAcademicpeer-review

De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental Disorder

Blok, L. S., Kleefstra, T., Venselaar, H., Maas, S., Kroes, H. Y., Lachmeijer, A. M. A., van Gassen, K. L., Firth, H., Tomkins, S., Bodek, S., Study, T. D. D. D., Ounap, K., Wojcik, M. H., Cunniff, C., Bergstrom, K., Powis, Z., Tang, S., Shinde, D. N., Au, C., Iglesias, A. D. & 19 others, Izumi, K., Leonard, J., Abou Tayoun, A., Baker, S. W., Tartaglia, M., Niceta, M., Dentici, M. L., Okamoto, N., Miyake, N., Matsumoto, N., Vitobello, A., Faivre, L., Philippe, C., Gilissen, C., Wiel, L., Pfundt, R., Deriziotis, P., Brunner, H. G. & Fisher, S. E., Aug 2019, In : American Journal of Human Genetics. 105, 2, p. 403-412 10 p.

Research output: Contribution to journalArticleAcademicpeer-review

Diagnostic exome sequencing in 100 consecutive patients with both epilepsy and intellectual disability

Snoeijen-Schouwenaars, F. M., van Ool, J. S., Verhoeven, J. S., van Mierlo, P., Braakman, H. M. H., Smeets, E. E., Nicolai, J., Schoots, J., Teunissen, M. W. A., Rouhl, R. P. W., Tan, I. Y., Yntema, H. G., Brunner, H. G., Pfundt, R., Stegmann, A. P., Kamsteeg, E-J., Schelhaas, H. J. & Willemsen, M. H., Jan 2019, In : Epilepsia. 60, 1, p. 155-164 10 p.

Research output: Contribution to journalArticleAcademicpeer-review

Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders

Guo, H., Bettella, E., Marcogliese, P. C., Zhao, R., Andrews, J. C., Nowakowski, T. J., Gillentine, M. A., Hoekzema, K., Wang, T., Wu, H., Jangam, S., Liu, C., Ni, H., Willemsen, M. H., van Bon, B. W., Rinne, T., Stevens, S. J. C., Kleefstra, T., Brunner, H. G., Yntema, H. G. & 31 others, Long, M., Zhao, W., Hu, Z., Colson, C., Richard, N., Schwartz, C. E., Romano, C., Castiglia, L., Bottitta, M., Dhar, S. U., Erwin, D. J., Emrick, L., Keren, B., Afenjar, A., Zhu, B., Bai, B., Stankiewicz, P., Herman, K., Mercimek-Andrews, S., Juusola, J., Wilfert, A. B., Abou Jamra, R., Buettner, B., Mefford, H. C., Muir, A. M., Scheffer, I. E., Regan, B. M., Malone, S., Gecz, J., Stegmann, A. P. A. & Univ Washington Ctr Mendelian Geno, 15 Oct 2019, In : Nature Communications. 10, 17 p., 4679.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Enabling Global Clinical Collaborations on Identifiable Patient Data: The Minerva Initiative

Nellaker, C., Alkuraya, F. S., Baynam, G., Bernier, R. A., Bernier, F. P. J., Boulangerw, V., Brudno, M., Brunner, H. G., Clayton-Smith, J., Cogne, B., Dawkins, H. J. S., deVries, B. B. A., Douzgou, S., Dudding-Byth, T., Eichler, E. E., Ferlaino, M., Fieggen, K., Firth, H., FitzPatrick, D. R., Gration, D. & 33 others, Groza, T., Haende, M., Hallowel, N., Hamosh, A., Hehir-Kwa, J., Hitz, M-P., Hughes, M., Kini, U., Kleefstra, T., Kooy, R. F., Krawitz, P., Kury, S., Lees, M., Lyon, G. J., Lyonnet, S., Marcadier, J. L., Meyn, S., Moslerova, V., Politei, J. M., Poulton, C. C., Raymond, F. L., Reijnders, M. R. F., Robinson, P. N., Romano, C., Rose, C. M., Sainsbury, D. C. G., Schofield, L., Sutton, V. R., Tumovec, M., Van Dijck, A., Van Esch, H., Wilkie, A. O. M. & Minerva Consortium, 29 Jul 2019, In : Frontiers in Genetics. 10, 9 p., 611.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Exome chip association study excluded the involvement of rare coding variants with large effect sizes in the etiology of anorectal malformations

van de Putte, R., Wijers, C. H. W., Reutter, H., Vermeulen, S. H., Marcelis, C. L. M., Brosens, E., Broens, P. M. A., Homberg, M., Ludwig, M., Jenetzky, E., Zwink, N., Sloots, C. E. J., de Klein, A., Brooke, A. S., Hofstra, R. M. W., Holsink, S. A. C., van Der Zanden, L. F. M., Galesloot, T. E., Tam, P. K-H., Steehouwer, M. & 8 others, Acuna-Hidalgo, R., van de Vorst, M., Kiemeney, L. A., Garcia-Barcelo, M-M., de Blaauw, I., Brunner, H. G., Roeleveld, N. & van Rooij, I. A. L. M., 28 May 2019, In : PLOS ONE. 14, 5, 12 p., 0217477.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Genetic architecture of subcortical brain structures in 38,851 individuals

Satizabal, C. L., Adams, H. H. H., Hibar, D. P., White, C. C., Knol, M. J., Stein, J. L., Scholz, M., Sargurupremraj, M., Jahanshad, N., Roshchupkin, G., Smith, A., Bis, J. C., Jian, X., Luciano, M., Hofer, E., Teumer, A., van der Lee, S. J., Yang, J., Yanek, L. R., Lee, T. & 269 others, Li, S., Hu, Y., Koh, J. Y., Eicher, J. D., Desrivieres, S., Arias-Vasquez, A., Chauhan, G., Athanasiu, L., Rentera, M. E., Kim, S., Hoehn, D., Armstrong, N. J., Chen, Q., Holmes, A. J., den Braber, A., Kloszewska, I., Andersson, M., Espeseth, T., Grimm, O., Abramovic, L., Alhusaini, S., Milaneschi, Y., Papmeyer, M., Axelsson, T., Ehrlich, S., Roiz-Santianez, R., Kraemer, B., Haberg, A. K., Jones, H. J., Pike, G. B., Stein, D. J., Stevens, A., Bralten, J., Vernooij, M. W., Harris, T. B., Filippi, I., Witte, A. V., Guadalupe, T., Wittfeld, K., Mosley, T. H., Becker, J. T., Nhat Trung Doan, Hagenaars, S. P., Saba, Y., Cuellar-Partida, G., Amin, N., Hilal, S., Nho, K., Mirza-Schreiber, N., Arfanakis, K., Becker, D. M., Ames, D., Goldman, A. L., Lee, P. H., Boomsma, D., Lovestone, S., Giddaluru, S., Le Hellard, S., Mattheisen, M., Bohlken, M. M., Kasperaviciute, D., Schmaal, L., Lawrie, S. M., Agartz, I., Walton, E., Tordesillas-Gutierrez, D., Davies, G. E., Shin, J., Ipser, J. C., Vinke, L. N., Hoogman, M., Jia, T., Burkhardt, R., Klein, M., Crivello, F., Janowitz, D., Carmichael, O., Haukvik, U. K., Aribisala, B. S., Schmidt, H., Strike, L. T., Cheng, C-Y., Risacher, S. L., Puetz, B., Fleischman, D. A., Assareh, A. A., Mattay, V. S., Buckner, R. L., Mecocci, P., Dale, A. M., Cichon, S., Boks, M. P., Matarin, M., Penninx, B. W. J. H., Calhoun, V. D., Chakravarty, M. M., Marquand, A. F., Macare, C., Masouleh, S. K., Oosterlaan, J., Amouyel, P., Hegenscheid, K., Rotter, J., Schork, A. J., Liewald, D. C. M., de Zubicaray, G., Wong, T. Y., Shen, L., Saemann, P. G., Brodaty, H., Roffman, J. L., de Geus, E. J. C., Tsolaki, M., Erk, S., van Eijk, K. R., Cavalleri, G. L., van der Wee, N. J. A., McIntosh, A. M., Gollub, R. L., Bulayeva, K. B., Bernard, M., Richards, J. S., Himali, J. J., Loeffler, M., Rommelse, N., Hoffmann, W., Westlye, L. T., Hernandez, M. C. V., Hansell, N. K., van Erp, T. G. M., Wolf, C., Kwok, J. B. J., Vellas, B., Heinz, A., Loohuis, L. M. O., Delanty, N., Ho, B-C., Ching, C. R. K., Shumskaya, E., Singh, B., Hofman, A., van der Meer, D., Homuth, G., Psaty, B. M., Bastin, M. E., Montgomery, G. W., Foroud, T. M., Reppermund, S., Hottenga, J-J., Simmons, A., Meyer-Lindenberg, A., Cahn, W., Whelan, C. D., van Donkelaar, M. M. J., Yang, Q., Hosten, N., Green, R. C., Thalamuthu, A., Mohnke, S., Pol, H. E. H., Lin, H., Jack, C. R., Schofield, P. R., Muehleisen, T. W., Maillard, P., Potkin, S. G., Wen, W., Fletcher, E., Toga, A. W., Gruber, O., Huentelman, M., Smith, G. D., Launer, L. J., Nyberg, L., Jonsson, E. G., Crespo-Facorro, B., Koen, N., Greve, D. N., Uitterlinden, A. G., Weinberger, D. R., Steen, V. M., Fedko, I. O., Groenewold, N. A., Niessen, W. J., Toro, R., Tzourio, C., Longstreth, W. T., Ikram, M. K., Smoller, J. W., van Tol, M-J., Sussmann, J. E., Paus, T., Lemaitre, H., Schroeter, M. L., Mazoyer, B., Andreassen, O. A., Holsboer, F., Depondt, C., Veltman, D. J., Turner, J. A., Pausova, Z., Schumann, G., van Rooij, D., Djurovic, S., Deary, I. J., McMahon, K. L., Mueller-Myhsok, B., Brouwer, R. M., Soininen, H., Pandolfo, M., Wassink, T. H., Cheung, J. W., Wolfers, T., Martinot, J-L., Zwiers, M. P., Nauck, M., Melle, I., Martin, N. G., Kanai, R., Westman, E., Kahn, R. S., Sisodiya, S. M., White, T., Saremi, A., van Bokhoven, H., Brunner, H. G., Voelzke, H., Wright, M. J., van't Ent, D., Noethen, M. M., Ophoff, R. A., Buitelaar, J. K., Fernandez, G., Sachdev, P. S., Rietschel, M., van Haren, N. E. M., Fisher, S. E., Beiser, A. S., Francks, C., Saykin, A. J., Mather, K. A., Romanczuk-Seiferth, N., Hartman, C. A., DeStefano, A. L., Heslenfeld, D. J., Weiner, M. W., Walter, H., Hoekstra, P. J., Nyquist, P. A., Franke, B., Bennett, D. A., Grabe, H. J., Johnson, A. D., Chen, C., van Duijn, C. M., Lopez, O. L., Fornage, M., Wardlaw, J. M., Schmidt, R., DeCarli, C., De Jager, P. L., Villringer, A., Debette, S., Gudnason, V., Medland, S. E., Shulman, J. M., Thompson, P. M., Seshadri, S. & Ikram, M. A., Nov 2019, In : Nature Genetics. 51, 11, p. 1624-+ 16 p.

Research output: Contribution to journalArticleAcademicpeer-review

Leveraging genomic diversity to promote human and animal health

Ramsay, M., Brunner, H. G. & Djikeng, A., 11 Dec 2019, In : Communications Biology. 2, 4 p., 463.

Research output: Contribution to journalEditorialAcademicpeer-review

Open Access

Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders

Srivastava, S., Love-Nichols, J. A., Dies, K. A., Ledbetter, D. H., Martin, C. L., Chung, W. K., Firth, H., Frazier, T., Hansen, R. L., Prock, L., Brunner, H., Hoang, N., Scherer, S. W., Sahin, M., Miller, D. T., Restrepo, B., Shankar, S., Riggs, E. R., Constantinou, P., Reed-Weston, A. & 6 others, Tong, R. S., Howe, J., Buchanan, J., Fisher, R., Mahida, S. & NDD Exome Scoping Review Work Grp, Nov 2019, In : Genetics in Medicine. 21, 11, p. 2413-2421 9 p.

Research output: Contribution to journalReview articleAcademicpeer-review

Open Access

Multi-centre evaluation of a comprehensive preimplantation genetic test through haplotyping-by-sequencing

Masset, H., Esteki, M. Z., Dimitriadou, E., Dreesen, J., Debrock, S., Derhaag, J., Derks, K., Destouni, A., Drusedau, M., Meekels, J., Melotte, C., Peeraer, K., Tsuiko, O., van Uum, C., Allemeersch, J., Devogelaere, B., Francois, K. O., Happe, S., Lorson, D., Richards, R. L. & 7 others, Theuns, J., Brunner, H., de Die-Smulders, C., Voet, T., Paulussen, A., Coonen, E. & Vermeesch, J. R., Aug 2019, In : Human Reproduction. 34, 8, p. 1608-1619 12 p.

Research output: Contribution to journalArticleAcademicpeer-review

Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons

Bell, S., Rousseau, J., Peng, H., Aouabed, Z., Priam, P., Theroux, J-F., Jefri, M., Tanti, A., Wu, H., Kolobova, I., Silviera, H., Manzano-Vargas, K., Ehresmann, S., Hamdan, F. F., Hettige, N., Zhang, X., Antonyan, L., Nassif, C., Ghaloul-Gonzalez, L., Sebastian, J. & 49 others, Vockley, J., Begtrup, A. G., Wentzensen, I. M., Crunk, A., Nicholls, R. D., Herman, K. C., Deignan, J. L., Al-Hertani, W., Efthymiou, S., Salpietro, V., Miyake, N., Makita, Y., Matsumoto, N., Ostern, R., Houge, G., Hafstrom, M., Fassi, E., Houlden, H., Wassink-Ruiter, J. S. K., Nelson, D., Goldstein, A., Dabir, T., van Gils, J., Bourgeron, T., Delorme, R., Cooper, G. M., Martinez, J. E., Finnila, C. R., Carmant, L., Lortie, A., Oegema, R., van Gassen, K., Mehta, S. G., Huhle, D., Abou Jamra, R., Martin, S., Brunner, H. G., Lindhout, D., Au, M., Graham, J. M., Coubes, C., Turecki, G., Gravel, S., Mechawar, N., Rossignol, E., Michaud, J. L., Lessard, J., Ernst, C. & Campeau, P. M., 2 May 2019, In : American Journal of Human Genetics. 104, 5, p. 815-834 20 p.

Research output: Contribution to journalArticleAcademicpeer-review

Neandertal Introgression Sheds Light on Modern Human Endocranial Globularity

Gunz, P., Tilot, A. K., Wittfeld, K., Teumer, A., Shapland, C. Y., van Erp, T. G. M., Dannemann, M., Vernot, B., Neubauer, S., Guadalupe, T., Fernandez, G., Brunner, H. G., Enard, W., Fallon, J., Hosten, N., Voelker, U., Profico, A., Di Vincenzo, F., Manzi, G., Kelso, J. & 7 others, St Pourcain, B., Hublin, J-J., Franke, B., Paeaebo, S., Macciardi, F., Grabe, H. J. & Fisher, S. E., 7 Jan 2019, In : Current Biology. 29, 1, p. 120-+ 13 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Non-Syndromic Cleft Lip with or without Cleft Palate: Genome-Wide Association Study in Europeans Identifies a Suggestive Risk Locus at 16p12.1 and Supports SH3PXD2A as a Clefting Susceptibility Gene

van Rooij, I. A. L. M., Ludwig, K. U., Welzenbach, J., Ishorst, N., Thonissen, M., Galesloot, T. E., Ongkosuwito, E., Berge, S. J., Aldhorae, K., Rojas-Martinez, A., Kiemeney, L. A. L. M., Vermeesch, J. R., Brunner, H., Roeleveld, N., Devriendt, K., Dormaar, T., Hens, G., Knapp, M., Carels, C. & Mangold, E., 7 Dec 2019, In : Genes. 10, 12, 14 p., 1023.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access
2018

2017 Curt Stern Award Introduction: Nico Katsanis

Brunner, H. G., 1 Mar 2018, In : American Journal of Human Genetics. 102, 3, p. 354-354 1 p.

Research output: Contribution to journalEditorialAcademicpeer-review

A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency

Jansen, S., Hoischen, A., Coe, B. P., Carvill, G. L., Van Esch, H., Bosch, D. G. M., Andersen, U. A., Baker, C., Bauters, M., Bernier, R. A., van Bon, B. W., Claahsen-van der Grinten, H. L., Gecz, J., Gilissen, C., Grillo, L., Hackett, A., Kleefstra, T., Koolen, D., Kvarnung, M., Larsen, M. J. & 21 others, Marcelis, C., McKenzie, F., Monin, M-L., Nava, C., Schuurs-Hoeijmakers, J. H., Pfundt, R., Steehouwer, M., Stevens, S. J. C., Stumpel, C. T., Vansenne, F., Vinci, M., van de Vorst, M., de Vries, P., Witherspoon, K., Veltman, J. A., Brunner, H. G., Mefford, H. C., Romano, C., Vissers, L. E. L. M., Eichler, E. E. & de Vries, B. B. A., 1 Jan 2018, In : European Journal of Human Genetics. 26, 1, p. 54-63 10 p.

Research output: Contribution to journalArticleAcademicpeer-review

A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis

Olson, H. E., Jean-Marcais, N., Yang, E., Heron, D., Tatton-Brown, K., van der Zwaag, P. A., Bijlsma, E. K., Krock, B. L., Backer, E., Kamsteeg, E-J., Sinnema, M., Reijnders, M. R. F., Bearden, D., Begtrup, A., Telegrafi, A., Lunsing, R. J., Burglen, L., Lesca, G., Cho, M. T., Smith, L. A. & 31 others, Sheidley, B. R., El Achkar, C. M., Pearl, P. L., Poduri, A., Skraban, C. M., Tarpinian, J., Nesbitt, A. I., van de Putte, D. E. F., Ruivenkamp, C. A. L., Rump, P., Chatron, N., Sabatier, I., De Bellescize, J., Guibaud, L., Sweetser, D. A., Waxler, J. L., Wierenga, K. J., Donadieu, J., Narayanan, V., Ramsey, K. M., Nava, C., Riviere, J-B., Vitobello, A., Mau-Them, F. T., Philippe, C., Bruel, A-L., Duffourd, Y., Thomas, L., Lelieveld, S. H., Brunner, H. G. & DDD Study; C4RCD Res Grp, 3 May 2018, In : American Journal of Human Genetics. 102, 5, p. 995-1007 13 p.

Research output: Contribution to journalArticleAcademicpeer-review

CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Blok, L. S., Rousseau, J., Twist, J., Ehresmann, S., Takaku, M., Venselaar, H., Rodan, L. H., Nowak, C. B., Douglas, J., Swoboda, K. J., Steeves, M. A., Sahai, I., Stumpel, C. T. R. M., Stegmann, A. P. A., Wheeler, P., Willing, M., Fiala, E., Kochhar, A., Gibson, W. T., Cohen, A. S. A. & 31 others, Agbahovbe, R., Innes, A. M., Au, P. Y. B., Rankin, J., Anderson, I. J., Skinner, S. A., Louie, R. J., Warren, H. E., Afenjar, A., Keren, B., Nava, C., Buratti, J., Isapof, A., Rodriguez, D., Lewandowski, R., Propst, J., van Essen, T., Choi, M., Lee, S., Chae, J. H., Price, S., Schnur, R. E., Douglas, G., Wentzensen, I. M., Zweier, C., Reis, A., Bialer, M. G., Moore, C., Jansen, S., Brunner, H. G. & DDD Study, 5 Nov 2018, In : Nature Communications. 9, 1, 12 p., 4619.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Clinical Phenotype and Genotype Associations With Improvement in Left Ventricular Function in Dilated Cardiomyopathy

Verdonschot, J. A. J., Hazebroek, M. R., Wang, P., Sanders-van Wijk, S., Merken, J. J., Adriaansen, Y. A., van den Wijngaard, A., Krapels, I. P. C., Brunner-La Rocca, H-P., Brunner, H. G. & Heymans, S. R. B., Nov 2018, In : Circulation-Heart Failure. 11, 11, 10 p., 005220.

Research output: Contribution to journalArticleAcademicpeer-review

De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder

Reijnders, M. R. F., Miller, K. A., Alvi, M., Goos, J. A. C., Lees, M. M., de Burca, A., Henderson, A., Kraus, A., Mikat, B., de Vries, B. B. A., Isidor, B., Kerr, B., Marcelis, C., Schluth-Bolard, C., Deshpande, C., Ruivenkamp, C. A. L., Wieczorek, D., Baralle, D., Blair, E. M., Engels, H. & 31 others, Ludecke, H-J., Eason, J., Santen, G. W. E., Clayton-Smith, J., Chandler, K., Tatton-Brown, K., Payne, K., Helbig, K., Radtke, K., Nugent, K. M., Cremer, K., Strom, T. M., Bird, L. M., Sinnema, M., Bitner-Glindzicz, M., van Dooren, M. F., Alders, M., Koopmans, M., Brick, L., Kozenko, M., Harline, M. L., Klaassens, M., Steinraths, M., Cooper, N. S., Edery, P., Yap, P., Terhal, P. A., van der Spek, P. J., Stegmann, A. P. A., Brunner, H. G. & Deciphering Dev Disorders Study, 7 Jun 2018, In : American Journal of Human Genetics. 102, 6, p. 1195-1203 9 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder (vol 101, pg 716, 2017)

DDD Study & C4RCD Res Grp, 4 Jan 2018, In : American Journal of Human Genetics. 102, 1, p. 196-196 1 p.

Research output: Contribution to journalErratum / corrigendumAcademic

De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder

Blok, L. S., Hiatt, S. M., Bowling, K. M., Prokop, J. W., Engel, K. L., Cochran, J. N., Bebin, E. M., Bijlsma, E. K., Ruivenkamp, C. A. L., Terhal, P., Simon, M. E. H., Smith, R., Hurst, J. A., McLaughlin, H., Person, R., Crunk, A., Wangler, M. F., Streff, H., Symonds, J. D., Zuberi, S. M. & 12 others, Elliott, K. S., Sanders, V. R., Masunga, A., Hopkin, R. J., Dubbs, H. A., Ortiz-Gonzalez, X. R., Pfundt, R., Brunner, H. G., Fisher, S. E., Kleefstra, T., Cooper, G. M. & DDD Study, 1 May 2018, In : Human Genetics. 137, 5, p. 375-388 14 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation

Basilicata, M. F., Bruel, A-L., Semplicio, G., Valsecchi, C. I. K., Aktas, T., Duffourd, Y., Rumpf, T., Morton, J., Bache, I., Szymanski, W. G., Gilissen, C., Vanakker, O., Ounap, K., Mittler, G., Van Der Burgt, I., El Chehadeh, S., Cho, M. T., Pfundt, R., Tan, T. Y., Kirchhoff, M. & 21 others, Menten, B., Vergult, S., Lindstrom, K., Reis, A., Johnson, D. S., Fryer, A., McKay, V., Fisher, R. B., Thauvin-Robinet, C., Francis, D., Roscioli, T., Pajusalu, S., Radtke, K., Ganesh, J., Brunner, H. G., Wilson, M., Faivre, L., Kalscheuer, V. M., Thevenon, J., Akhtar, A. & DDD Study, Oct 2018, In : Nature Genetics. 50, 10, p. 1442-1451 10 p.

Research output: Contribution to journalArticleAcademicpeer-review

De novo mutations in the SET nuclear proto-oncogene, encoding a component of the inhibitor of histone acetyltransferases (INHAT) complex in patients with nonsyndromic intellectual disability

Stevens, S. J. C., van der Schoot, V., Leduc, M. S., Rinne, T., Lalani, S. R., Weiss, M. M., van Hagen, J. M., Lachmeijer, A. M. A., Stockler-Ipsiroglu, S. G., Lehman, A., Brunner, H. G. & CAUSES Study, 1 Jul 2018, In : Human Mutation. 39, 7, p. 1014-1023 10 p.

Research output: Contribution to journalArticleAcademicpeer-review

Homozygous mutation in ELMO2 may cause Ramon syndrome

Mehawej, C., Hoischen, A., Farah, R. A., Marey, I., David, M., Stora, S., Lachlan, K., Brunner, H. G. & Megarbane, A., 1 Mar 2018, In : Clinical Genetics. 93, 3, p. 703-706 4 p.

Research output: Contribution to journalArticleAcademicpeer-review

Identification of rare de novo epigenetic variations in congenital disorders

Barbosa, M., Joshi, R. S., Garg, P., Martin-Trujillo, A., Patel, N., Jadhav, B., Watson, C. T., Gibson, W., Chetnik, K., Tessereau, C., Mei, H., De Rubeis, S., Reichert, J., Lopes, F., Vissers, L. E. L. M., Kleefstra, T., Grice, D. E., Edelmann, L., Soares, G., Maciel, P. & 4 others, Brunner, H. G., Buxbaum, J. D., Gelb, B. D. & Sharp, A. J., 25 May 2018, In : Nature Communications. 9, 11 p., 2064.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

NBEA: Developmental disease gene with early generalized epilepsy phenotypes

Mulhern, M. S., Stumpel, C., Stong, N., Brunner, H. G., Bier, L., Lippa, N., Riviello, J., Rouhl, R. P. W., Kempers, M., Pfundt, R., Stegmann, A. P. A., Kukolich, M. K., Telegrafi, A., Lehman, A., Lopez-Rangel, E., Houcinat, N., Barth, M., den Hollander, N., Hoffer, M. J. V., Weckhuysen, S. & 32 others, Roovers, J., Djemie, T., Barca, D., Ceulemans, B., Craiu, D., Lemke, J. R., Korff, C., Mefford, H. C., Meyers, C. T., Siegler, Z., Hiatt, S. M., Cooper, G. M., Bebin, E. M., Snijders Blok, L., Veenstra-Knol, H. E., Baugh, E. H., Brilstra, E. H., Volker-Touw, C. M. L., van Binsbergen, E., Revah-Politi, A., Pereira, E., McBrian, D., Pacault, M., Isidor, B., Le Caignec, C., Gilbert-Dussardier, B., Bilan, F., Heinzen, E. L., Goldstein, D. B., Stevens, S. J. C., CAUSES Study & EuroEPINOMICS-RES-MAE Working Grp, Nov 2018, In : Annals of Neurology. 84, 5, p. 788-795 8 p.

Research output: Contribution to journalArticleAcademicpeer-review

Prevalence of Pathogenic Gene Mutations and Prognosis Do Not Differ in Isolated Left Ventricular Dysfunction Compared With Dilated Cardiomyopathy

Hazebroek, M. R., Krapels, I., Verdonschot, J., van den Wijngaard, A., Vanhoutte, E., Hoos, M., Snijders, L., van Montfort, L., Witjens, M., Dennert, R., Crijns, H. J. G. M., Brunner-La Rocca, H-P., Brunner, H. G. & Heymans, S., 1 Mar 2018, In : Circulation-Heart Failure. 11, 3, 25 p., e004682 .

Research output: Contribution to journalArticleAcademicpeer-review

PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature

Reijnders, M. R. F., Janowski, R., Alvi, M., Self, J. E., van Essen, T. J., Vreeburg, M., Rouhl, R. P. W., Stevens, S. J. C., Stegmann, A. P. A., Schieving, J., Pfundt, R., Dijk, K., Smeets, E., Stumpel, C. T. R. M., Bok, L. A., Cobben, J. M., Engelen, M., Mansour, S., Whiteford, M., Chandler, K. E. & 31 others, Douzgou, S., Cooper, N. S., Tan, E-C., Foo, R., Lai, A. H. M., Rankin, J., Green, A., Lonnqvist, T., Isohanni, P., Williams, S., Ruhoy, I., Carvalho, K. S., Dowling, J. J., Lev, D. L., Sterbova, K., Lassuthova, P., Neupauerova, J., Waugh, J. L., Keros, S., Clayton-Smith, J., Smithson, S. F., Brunner, H. G., van Hoeckel, C., Anderson, M., Clowes, V. E., Siu, V. M., Selber, P., Leventer, R. J., Nellaker, C., Niessing, D. & DDD Study, 1 Feb 2018, In : Journal of Medical Genetics. 55, 2, p. 104-113 10 p.

Research output: Contribution to journalReview articleAcademicpeer-review

Open Access

Recessive DNAH9 Loss-of-Function Mutations Cause Laterality Defects and Subtle Respiratory Ciliary-Beating Defects

Loges, N. T., Antony, D., Maver, A., Deardorff, M. A., Gulec, E. Y., Gezdirici, A., Noethe-Menchen, T., Hoeben, I. M., Jelten, L., Frank, D., Werner, C., Tebbe, J., Wu, K., Goldmuntz, E., Cuturilo, G., Krock, B., Ritter, A., Hjeij, R., Bakey, Z., Pennekamp, P. & 7 others, Dworniczak, B., Brunner, H., Peterlin, B., Tanidir, C., Olbrich, H., Omran, H. & Schmidts, M., 6 Dec 2018, In : American Journal of Human Genetics. 103, 6, p. 995-1008 14 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Toward clinical and molecular understanding of pathogenic variants in the ZBTB18 gene

van der Schoot, V., de Munnik, S., Venselaar, H., Elting, M., Mancini, G. M. S., Ravenswaaij-Arts, C. M. A., Anderlid, B-M., Brunner, H. G. & Stevens, S. J. C., 1 May 2018, In : Molecular genetics & genomic medicine. 6, 3, p. 393-400 8 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome

White, J. J., Mazzeu, J. F., Coban-Akdemir, Z., Bayram, Y., Bahrambeigi, V., Hoischen, A., van Bon, B. W. M., Gezdirici, A., Gulec, E. Y., Ramond, F., Touraine, R., Thevenon, J., Shinawi, M., Beaver, E., Heeley, J., Hoover-Fong, J., Durmaz, C. D., Karabulut, H. G., Marzioglu-Ozdemir, E., Cayir, A. & 16 others, Duz, M. B., Seven, M., Price, S., Ferreira, B. M., Vianna-Morgante, A. M., Ellard, S., Parrish, A., Stals, K., Flores-Daboub, J., Jhangiani, S. N., Gibbs, R. A., Brunner, H. G., Sutton, V. R., Lupski, J. R., Carvalho, C. M. B. & Baylor-Hopkins Ctr Mendelian, 4 Jan 2018, In : American Journal of Human Genetics. 102, 1, p. 27-43 17 p.

Research output: Contribution to journalArticleAcademicpeer-review

2017

A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology

Vissers, L. E. L. M., van Nimwegen, K. J. M., Schieving, J. H., Kamsteeg, E-J., Kleefstra, T., Yntema, H. G., Pfundt, R., van der Wilt, G. J., Krabbenborg, L., Brunner, H. G., van der Burg, S., Grutters, J., Veltman, J. A. & Willemsen, M. A. A. P., Sep 2017, In : Genetics in Medicine. 19, 9, p. 1055-1063 9 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Computer face-matching technology using two-dimensional photographs accurately matches the facial gestalt of unrelated individuals with the same syndromic form of intellectual disability

Dudding-Byth, T., Baxter, A., Holliday, E. G., Hackett, A., O'Donnell, S., White, S. M., Attia, J., Brunner, H., de Vries, B., Koolen, D., Kleefstra, T., Ratwatte, S., Riveros, C., Brain, S. & Lovell, B. C., 19 Dec 2017, In : BMC Biotechnology. 17, 9 p., 90.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder

Lessel, D., Schob, C., Kuery, S., Reinders, M. R. F., Harel, T., Eldomery, M. K., Coban-Akdemir, Z., Denecke, J., Edvardson, S., Colin, E., Stegmann, A. P. A., Gerkes, E. H., Tessarech, M., Bonneau, D., Barth, M., Besnard, T., Cogne, B., Revah-Politi, A., Strom, T. M., Rosenfeld, J. A. & 24 others, Yang, Y., Posey, J. E., Immken, L., Oundjian, N., Helbig, K. L., Meeks, N., Zegar, K., Morton, J., Schieving, J. H., Claasen, A., Huentelman, M., Narayanan, V., Ramsey, K., Brunner, H. G., Elpeleg, O., Mercier, S., Bezieau, S., Kubisch, C., Kleefstra, T., Kindler, S., Lupski, J. R., Kreienkamp, H-J., DDD Study & C4RCD Res Grp, 2 Nov 2017, In : American Journal of Human Genetics. 101, 5, p. 716-724 9 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Duplicated Enhancer Region Increases Expression of CTSB and Segregates with Keratolytic Winter Erythema in South African and Norwegian Families

Ngcungcu, T., Oti, M., Sitek, J. C., Haukanes, B. I., Linghu, B., Bruccoleri, R., Stokowy, T., Oakeley, E. J., Yang, F., Zhu, J., Sultan, M., Schalkwijk, J., van Vlijmen-Willems, I. M. J. J., von der Lippe, C., Brunner, H. G., Ersland, K. M., Grayson, W., Buechmann-Moller, S., Sundnes, O., Nirmala, N. & 9 others, Morgan, T. M., van Bokhoven, H., Steen, V. M., Hull, P. R., Szustakowski, J., Staedtler, F., Zhou, H., Fiskerstrand, T. & Ramsay, M., 4 May 2017, In : American Journal of Human Genetics. 100, 5, p. 737-750 14 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Expanding the clinical spectrum of recessive truncating mutations of KLHL7 to a Bohring-Opitz-like phenotype

Bruel, A-L., 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, B. W., Acuna-Hidalgo, R., Bohring, A., Deleuze, J-F., Boland, A., Meyer, V. & 10 others, Olaso, R., Ginglinger, E., Riviere, J-B., Brunner, H. G., Hoischen, A., Newbury-Ecob, R., Faivre, L., Thauvin-Robinet, C., Thevenon, J. & DDD Study, Dec 2017, In : Journal of Medical Genetics. 54, 12, p. 830-835 6 p.

Research output: Contribution to journalArticleAcademicpeer-review

Homozygosity Mapping and Targeted Sanger Sequencing Identifies Three Novel CRB1 (Crumbs homologue 1) Mutations in Iranian Retinal Degeneration Families

Ghofrani, M., Yahyaei, M., Brunner, H. G., Cremers, F. P. M., Movasat, M., Imran Khan, M. & Keramatipour, M., Sep 2017, In : Iranian Biomedical Journal. 21, 5, p. 294-302 9 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases

Boycott, K. M., Rath, A., Chong, J. X., Hartley, T., Alkuraya, F. S., Baynam, G., Brookes, A. J., Brudno, M., Carracedo, A., den Dunnen, J. T., Dyke, S. O. M., Estivill, X., Goldblatt, J., Gonthier, C., Groft, S. C., Gut, I., Hamosh, A., Hieter, P., Hoehn, S., Hurles, M. E. & 20 others, Kaufmann, P., Knoppers, B. M., Krischer, J. P., Macek, M., Matthijs, G., Olry, A., Parker, S., Paschall, J., Philippakis, A. A., Rehm, H. L., Robinson, P. N., Sham, P-C., Stefanov, R., Taruscio, D., Unni, D., Vanstone, M. R., Zhang, F., Brunner, H., Bamshad, M. J. & Lochmueller, H., 4 May 2017, In : American Journal of Human Genetics. 100, 5, p. 695-705 11 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome

Oud, M. M., Tuijnenburg, P., Hempel, M., van Vlies, N., Ren, Z., Ferdinandusse, S., Jansen, M. H., Santer, R., Johannsen, J., Bacchelli, C., Alders, M., Li, R., Davies, R., Dupuis, L., Cale, C. M., Wanders, R. J. A., Pals, S. T., Ocaka, L., James, C., Mueller, I. & 18 others, Lehmberg, K., Strom, T., Engels, H., Williams, H. J., Beales, P., Roepmand, R., Dias, P., Brunner, H. G., Cobben, J-M., Hall, C., Hartley, T., Stabej, P. L. Q., Mendoza-Londono, R., Davies, E. G., de Sousa, S. B., Lesse, D., Arts, H. H. & Kuijpers, T. W., 2 Feb 2017, In : American Journal of Human Genetics. 100, 2, p. 281-296 16 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Novel genetic loci associated with hippocampal volume

Hibar, D. P., Adams, H. H. H., Jahanshad, N., Chauhan, G., Stein, J. L., Hofer, E., Renteria, M. E., Bis, J. C., Arias-Vasquez, A., Ikram, M. K., Desrivieres, S., Vernooij, M. W., Abramovic, L., Alhusaini, S., Amin, N., Andersson, M., Arfanakis, K., Aribisala, B. S., Armstrong, N. J., Athanasiu, L. & 312 others, Axelsson, T., Beecham, A. H., Beiser, A., Bernard, M., Blanton, S. H., Bohlken, M. M., Boks, M. P., Bralten, J., Brickman, A. M., Carmichael, O., Chakravarty, M. M., Chen, Q., Ching, C. R. K., Chouraki, V., Cuellar-Partida, G., Crivello, F., Den Braber, A., Nhat Trung Doan, Ehrlich, S., Giddaluru, S., Goldman, A. L., Gottesman, R. F., Grimm, O., Griswold, M. E., Guadalupe, T., Gutman, B. A., Hass, J., Haukvik, U. K., Hoehn, D., Holmes, A. J., Hoogman, M., Janowitz, D., Jia, T., Jorgensen, K. N., Karbalai, N., Kasperaviciute, D., Kim, S., Klein, M., Kraemer, B., Lee, P. H., Liewald, D. C. M., Lopez, L. M., Luciano, M., Macare, C., Marquand, A. F., Matarin, M., Mather, K. A., Mattheisen, M., McKay, D. R., Milaneschi, Y., Maniega, S. M., Nho, K., Nugent, A. C., Nyquist, P., Loohuis, L. M. O., Oosterlaan, J., Papmeyer, M., Pirpamer, L., Puetz, B., Ramasamy, A., Richards, J. S., Risacher, S. L., Roiz-Santianez, R., Rommelse, N., Ropele, S., Rose, E. J., Royle, N. A., Rundek, T., Saemann, P. G., Saremi, A., Satizabal, C. L., Schmaal, L., Schork, A. J., Shen, L., Shin, J., Shumskaya, E., Smith, A. V., Sprooten, E., Strike, L. T., Teumer, A., Tordesillas-Gutierrez, D., Toro, R., Trabzuni, D., Trompet, S., Vaidya, D., Van der Grond, J., Van der Lee, S. J., Van der Meer, D., Van Donkelaar, M. M. J., Van Eijk, K. R., Van Erp, T. G. M., Van Rooij, D., Walton, E., Westlye, L. T., Whelan, C. D., Windham, B. G., Winkler, A. M., Wittfeld, K., Woldehawariat, G., Wolf, C., Wolfers, T., Yanek, L. R., Yang, J., Zijdenbos, A., Zwiers, M. P., Agartz, I., Almasy, L., Ames, D., Amouyel, P., Andreassen, O. A., Arepalli, S., Assareh, A. A., Barral, S., Bastin, M. E., Becker, D. M., Becker, J. T., Bennett, D. A., Blangero, J., van Bokhoven, H., Boomsma, D. I., Brodaty, H., Brouwer, R. M., Brunner, H. G., Buckner, R. L., Buitelaar, J. K., Bulayeva, K. B., Cahn, W., Calhoun, V. D., Cannon, D. M., Cavalleri, G. L., Cheng, C-Y., Cichon, S., Cookson, M. R., Corvin, A., Crespo-Facorro, B., Curran, J. E., Czisch, M., Dale, A. M., Davies, G. E., De Craen, A. J. M., De Geus, E. J. C., De Jager, P. L., De Zubicaray, G. I., Deary, I. J., Debette, S., DeCarli, C., Delanty, N., Depondt, C., DeStefano, A., Dillman, A., Djurovic, S., Donohoe, G., Drevets, W. C., Duggirala, R., Dyer, T. D., Enzinger, C., Erk, S., Espeseth, T., Fedko, I. O., Fernandez, G., Ferrucci, L., Fisher, S. E., Fleischman, D. A., Ford, I., Fornage, M., Foroud, T. M., Fox, P. T., Francks, C., Fukunaga, M., Gibbs, J. R., Glahn, D. C., Gollub, R. L., Goring, H. H. H., Green, R. C., Gruber, O., Gudnason, V., Guelfi, S., Haberg, A. K., Hansell, N. K., Hardy, J., Hartman, C. A., Hashimoto, R., Hegenscheid, K., Heinz, A., Le Hellard, S., Hernandez, D. G., Heslenfeld, D. J., Ho, B-C., Hoekstra, P. J., Hoffmann, W., Hofman, A., Holsboer, F., Homuth, G., Hosten, N., Hottenga, J-J., Huentelman, M., Pol, H. E. H., Ikeda, M., Jack, C. R., Jenkinson, M., Johnson, R., Joensson, E. G., Jukema, J. W., Kahn, R. S., Kanai, R., Kloszewska, I., Knopman, D. S., Kochunov, P., Kwok, J. B., Lawrie, S. M., Lemaitre, H., Liu, X., Longo, D. L., Lopez, O. L., Lovestone, S., Martinez, O., Martinot, J-L., Mattay, V. S., McDonald, C., McIntosh, A. M., McMahon, F. J., McMahon, K. L., Mecocci, P., Melle, I., Meyer-Lindenberg, A., Mohnke, S., Montgomery, G. W., Morris, D. W., Mosley, T. H., Muhleisen, T. W., Mueller-Myhsok, B., Nalls, M. A., Nauck, M., Nichols, T. E., Niessen, W. J., Nothen, M. M., Nyberg, L., Ohi, K., Olvera, R. L., Ophoff, R. A., Pandolfo, M., Paus, T., Pausova, Z., Penninx, B. W. J. H., Pike, G. B., Potkin, S. G., Psaty, B. M., Reppermund, S., Rietschel, M., Roffman, J. L., Romanczuk-Seiferth, N., Rotter, J. I., Ryten, M., Sacco, R. L., Sachdev, P. S., Saykin, A. J., Schmidt, R., Schmidt, H., Schofield, P. R., Sigursson, S., Simmons, A., Singleton, A., Sisodiya, S. M., Smith, C., Smoller, J. W., Soininen, H., Steen, V. M., Stott, D. J., Sussmann, J. E., Thalamuthu, A., Toga, A. W., Traynor, B. J., Troncoso, J., Tsolaki, M., Tzourio, C., Uitterlinden, A. G., Hernandez, M. C. V., Van der Brug, M., van der Lugt, A., van der Wee, N. J. A., Van Haren, N. E. M., van't Ent, D., Van Tol, M-J., Vardarajan, B. N., Vellas, B., Veltman, D. J., Voelzke, H., Walter, H., Wardlaw, J. M., Wassink, T. H., Weale, M. E., Weinberger, D. R., Weiner, M. W., Wen, W., Westman, E., White, T., Wong, T. Y., Wright, C. B., Zielke, R. H., Zonderman, A. B., Martin, N. G., Van Duijn, C. M., Wright, M. J., Longstreth, W. T., Schumann, G., Grabe, H. J., Franke, B., Launer, L. J., Medland, S. E., Seshadri, S., Thompson, P. M. & Ikram, M. A., 18 Jan 2017, In : Nature Communications. 8, 12 p., 13624.

Research output: Contribution to journalArticleAcademicpeer-review

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