Brunner, H.G.

HH / A, Full professor - Key domain chair

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  1. 2019
  2. Published
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    Blok, L. S., Kleefstra, T., Venselaar, H., Maas, S., Kroes, H. Y., Lachmeijer, A. M. A., ... Fisher, S. E. (2019). De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental Disorder. American Journal of Human Genetics, 105(2), 403-412.
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    Minerva Consortium, Nellaker, C., Alkuraya, F. S., Baynam, G., Bernier, R. A., Bernier, F. P. J., ... Wilkie, A. O. M. (2019). Enabling Global Clinical Collaborations on Identifiable Patient Data: The Minerva Initiative. Frontiers in Genetics, 10, [611].
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    Gunz, P., Tilot, A. K., Wittfeld, K., Teumer, A., Shapland, C. Y., van Erp, T. G. M., ... Fisher, S. E. (2019). Neandertal Introgression Sheds Light on Modern Human Endocranial Globularity. Current Biology, 29(1), 120-+.
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    Snoeijen-Schouwenaars, F. M., van Ool, J. S., Verhoeven, J. S., van Mierlo, P., Braakman, H. M. H., Smeets, E. E., ... Willemsen, M. H. (2019). Diagnostic exome sequencing in 100 consecutive patients with both epilepsy and intellectual disability. Epilepsia, 60(1), 155-164.
  13. 2018
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    Loges, N. T., Antony, D., Maver, A., Deardorff, M. A., Gulec, E. Y., Gezdirici, A., ... Schmidts, M. (2018). Recessive DNAH9 Loss-of-Function Mutations Cause Laterality Defects and Subtle Respiratory Ciliary-Beating Defects. American Journal of Human Genetics, 103(6), 995-1008.
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    DDD Study, Basilicata, M. F., Bruel, A-L., Semplicio, G., Valsecchi, C. I. K., Aktas, T., ... Akhtar, A. (2018). De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation. Nature Genetics, 50(10), 1442-1451.
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    Barbosa, M., Joshi, R. S., Garg, P., Martin-Trujillo, A., Patel, N., Jadhav, B., ... Sharp, A. J. (2018). Identification of rare de novo epigenetic variations in congenital disorders. Nature Communications, 9, [2064].
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    DDD Study, Blok, L. S., Hiatt, S. M., Bowling, K. M., Prokop, J. W., Engel, K. L., ... Cooper, G. M. (2018). De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder. Human Genetics, 137(5), 375-388.
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    Mehawej, C., Hoischen, A., Farah, R. A., Marey, I., David, M., Stora, S., ... Megarbane, A. (2018). Homozygous mutation in ELMO2 may cause Ramon syndrome. Clinical Genetics, 93(3), 703-706.
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    DDD Study, Reijnders, M. R. F., Janowski, R., Alvi, M., Self, J. E., van Essen, T. J., ... Niessing, D. (2018). PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature. Journal of Medical Genetics, 55(2), 104-113.
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    Baylor-Hopkins Ctr Mendelian, White, J. J., Mazzeu, J. F., Coban-Akdemir, Z., Bayram, Y., Bahrambeigi, V., ... Carvalho, C. M. B. (2018). WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome. American Journal of Human Genetics, 102(1), 27-43.
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    Jansen, S., Hoischen, A., Coe, B. P., Carvill, G. L., Van Esch, H., Bosch, D. G. M., ... de Vries, B. B. A. (2018). A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency. European Journal of Human Genetics, 26(1), 54-63.
  34. 2017
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    Bruel, A-L., Bigoni, S., Kennedy, J., Whiteford, M., Buxton, C., Parmeggiani, G., ... DDD Study (2017). Expanding the clinical spectrum of recessive truncating mutations of KLHL7 to a Bohring-Opitz-like phenotype. Journal of Medical Genetics, 54(12), 830-835.
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    Lessel, D., Schob, C., Kuery, S., Reinders, M. R. F., Harel, T., Eldomery, M. K., ... C4RCD Res Grp (2017). De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder. American Journal of Human Genetics, 101(5), 716-724.
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    Reijnders, M. R. F., Ansor, N. M., Kousi, M., Yue, W. W., Tan, P. L., Clarkson, K., ... Deciphering Dev Disorders Study (2017). RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes. American Journal of Human Genetics, 101(3), 466-477.
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    Lelieveld, S. H., Wiel, L., Venselaar, H., Pfundt, R., Vriend, G., Veltman, J. A., ... Gilissen, C. (2017). Spatial Clustering of de Novo Missense Mutations Identifies Candidate Neurodevelopmental Disorder-Associated Genes. American Journal of Human Genetics, 101(3), 478-484.
  45. Published
    Vissers, L. E. L. M., van Nimwegen, K. J. M., Schieving, J. H., Kamsteeg, E-J., Kleefstra, T., Yntema, H. G., ... Willemsen, M. A. A. P. (2017). A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology. Genetics in Medicine, 19(9), 1055-1063.
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    Gabriele, M., Vulto-van Silfhout, A. T., Germain, P-L., Vitriolo, A., Kumar, R., Douglas, E., ... de Vries, B. B. A. (2017). YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction. American Journal of Human Genetics, 100(6), 907-925.
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    Boycott, K. M., Rath, A., Chong, J. X., Hartley, T., Alkuraya, F. S., Baynam, G., ... Lochmueller, H. (2017). International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases. American Journal of Human Genetics, 100(5), 695-705.
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    Vulto-van Silfhout, A. T., Gilissen, C., Goeman, J. J., Jansen, S., van Amen-Hellebrekers, C. J. M., van Bon, B. W. M., ... de Vries, B. B. A. (2017). Quantification of Phenotype Information Aids the Identification of Novel Disease Genes. Human Mutation, 38(5), 594-599.
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    Kavaklioglu, T., Guadalupe, T., Zwiers, M., Marquand, A. F., Onnink, M., Shumskaya, E., ... Francks, C. (2017). Structural asymmetries of the human cerebellum in relation to cerebral cortical asymmetries and handedness. Brain Structure & Function, 222(4), 1611-1623.
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    Oud, M. M., Tuijnenburg, P., Hempel, M., van Vlies, N., Ren, Z., Ferdinandusse, S., ... Kuijpers, T. W. (2017). Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome. American Journal of Human Genetics, 100(2), 281-296.
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    Khandelwal, K. D., Ishorst, N., Zhou, H., Ludwig, K. U., Venselaar, H., Gilissen, C., ... Carels, C. E. L. (2017). Novel IRF6 Mutations Detected in Orofacial Cleft Patients by Targeted Massively Parallel Sequencing. Journal of Dental Research, 96(2), 179-185.
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