Santen, Gijs W.E.

Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases

Stessman, H. A. F., Xiong, B., Coe, B. P., Wang, T., Hoekzema, K., Fenckova, M., Kvarnung, M., Gerdts, J., Trinh, S., Cosemans, N., et al. (2017) · Nature Genetics

Genetics and Neurodevelopmental DisordersAutism Spectrum Disorder Research

Cited by 559

Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome

Santen, G. W. E., Aten, E., Sun, Y., Almomani, R., Gilissen, C., Nielsen, M., Kant, S. G., Snoeck, I. N., Peeters, E. A. J., Hilhorst-Hofstee, Y., et al. (2012) · Nature Genetics

Genetics and Neurodevelopmental DisordersChromatin Remodeling and Cancer

Cited by 347

Coffin-Siris Syndrome and the BAF Complex: Genotype-Phenotype Study in 63 Patients

Santen, G. W. E., Aten, E., Vulto-van Silfhout, A. T., Pottinger, C., van Bon, B. W. M., van Minderhout, I. J. H. M., Snowdowne, R., van der Lans, C. A. C., Boogaard, M., Linssen, M. M. L., et al. (2013) · Human Mutation

Genomics and Rare DiseasesChromatin Remodeling and Cancer

Cited by 221

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability

Küry, S., van Woerden, G. M., Besnard, T., Proietti Onori, M., Latypova, X., Towne, M. C., Cho, M. T., Prescott, T. E., Ploeg, M. A., Sanders, S., et al. (2017) · The American Journal of Human Genetics

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

Cited by 185

Arid1b haploinsufficient mice reveal neuropsychiatric phenotypes and reversible causes of growth impairment

Celen, C., Chuang, J.-C., Luo, X., Nijem, N., Walker, A. K., Chen, F., Zhang, S., Chung, A. S., Nguyen, L. H., Nassour, I., et al. (2017) · eLife

Genetics and Neurodevelopmental DisordersChromatin Remodeling and Cancer

Cited by 113

Mutations in TBL1X Are Associated With Central Hypothyroidism

Heinen, C. A., Losekoot, M., Sun, Y., Watson, P. J., Fairall, L., Joustra, S. D., Zwaveling-Soonawala, N., Oostdijk, W., van den Akker, E. L. T., Alders, M., et al. (2016) · The Journal of Clinical Endocrinology & Metabolism

Thyroid Disorders and TreatmentsGenomics and Rare Diseases

Cited by 92

PAPSS2 deficiency causes androgen excess via impaired DHEA sulfation–in vitro and in vivo studies in a family harboring two novel PAPSS2 mutations

Oostdijk, W., Idkowiak, J., Mueller, J. W., House, P. J., Taylor, A. E., O'Reilly, M. W., Hughes, B. A., de Vries, M. C., Kant, S. G., Santen, G. W. E., et al. (2015) · The Journal of Clinical Endocrinology & Metabolism

Sexual Differentiation and DisordersAdrenal Hormones and Disorders

Cited by 81

Functional correlation of genome‐wide DNA methylation profiles in genetic neurodevelopmental disorders

Levy, M. A., Relator, R., McConkey, H., Pranckeviciene, E., Kerkhof, J., Barat‐Houari, M., Bargiacchi, S., Biamino, E., Palomares Bralo, M., Cappuccio, G., et al. (2022) · Human Mutation

Epigenetics and DNA MethylationGenetics and Neurodevelopmental Disorders

Cited by 76

Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein

de Boer, E., Ockeloen, C. W., Kampen, R. A., Hampstead, J. E., Dingemans, A. J. M., Rots, D., Lütje, L., Ashraf, T., Baker, R., Barat-Houari, M., et al. (2022) · Genetics in Medicine

Genomics and Rare DiseasesGenetics and Neurodevelopmental Disorders

Cited by 28