Brunner, Han G.

YY1 haploinsufficiency causes an intellectual disability syndrome featuring transcriptional and chromatin dysfunction

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A homozygous mutation in the luteinizing hormone receptor causes partial Leydig cell hypoplasia: correlation between receptor activity and phenotype

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Haploinsufficiency of MeCP2-interacting transcriptional co-repressor SIN3A causes mild intellectual disability by affecting the development of cortical integrity

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P63 gene mutations and human developmental syndromes

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Plasma metadrenalines: do they provide useful information about sympatho-adrenal function and catecholamine metabolism?

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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., et al. (2019) · Current Biology

Pleistocene-Era Hominins and ArchaeologyMorphological variations and asymmetry

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The Origin of EFNB1 Mutations in Craniofrontonasal Syndrome: Frequent Somatic Mosaicism and Explanation of the Paucity of Carrier Males

Twigg, S. R. F., Matsumoto, K., Kidd, A. M. J., Goriely, A., Taylor, I. B., Fisher, R. B., Hoogeboom, A. J. M., Mathijssen, I. M. J., Lourenço, M. T., Morton, J. E. V., et al. (2006) · The American Journal of Human Genetics

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The performance of genome sequencing as a first-tier test for neurodevelopmental disorders

van der Sanden, B. P. G. H., Schobers, G., Corominas Galbany, J., Koolen, D. A., Sinnema, M., van Reeuwijk, J., Stumpel, C. T. R. M., Kleefstra, T., de Vries, B. B. A., Ruiterkamp-Versteeg, M., et al. (2023) · European Journal of Human Genetics

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Novel mutations in LRP6 highlight the role of WNT signaling in tooth agenesis

Ockeloen, C. W., Khandelwal, K. D., Dreesen, K., Ludwig, K. U., Sullivan, R., van Rooij, I. A. L. M., Thonissen, M., Swinnen, S., Phan, M., Conte, F., et al. (2016) · Genetics in Medicine

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Variation in a range of mTOR-related genes associates with intracranial volume and intellectual disability

Reijnders, M. R. F., Kousi, M., van Woerden, G. M., Klein, M., Bralten, J., Mancini, G. M. S., van Essen, T., Proietti-Onori, M., Smeets, E. E. J., van Gastel, M., et al. (2017) · Nature Communications

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Heterozygous germline mutations in A2ML1 are associated with a disorder clinically related to Noonan syndrome

Vissers, L. E., Bonetti, M., Paardekooper Overman, J., Nillesen, W. M., Frints, S. G. M., de Ligt, J., Zampino, G., Justino, A., Machado, J. C., Schepens, M., et al. (2015) · European Journal of Human Genetics

Protein Tyrosine PhosphatasesGenomics and Rare Diseases

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Current Self-Reported Symptoms of Attention Deficit/Hyperactivity Disorder Are Associated with Total Brain Volume in Healthy Adults

Hoogman, M., Rijpkema, M., Janss, L., Brunner, H., Fernandez, G., Buitelaar, J., Franke, B., & Arias-Vásquez, A. (2012) · PLoS ONE

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Integrating healthcare and research genetic data empowers the discovery of 28 novel developmental disorders

Kaplanis, J., Samocha, K. E., Wiel, L., Zhang, Z., Arvai, K. J., Eberhardt, R. Y., Gallone, G., Lelieveld, S. H., Martin, H. C., McRae, J. F., et al. (2019) · bioRxiv (Cold Spring Harbor Laboratory)

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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., et al. (2019) · PLOS ONE

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