Begtrup, Amber

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

Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic Atrophy

Assoum, M., Philippe, C., Isidor, B., Perrin, L., Makrythanasis, P., Sondheimer, N., Paris, C., Douglas, J., Lesca, G., Antonarakis, S., et al. (2016) · The American Journal of Human Genetics

Epilepsy research and treatmentGenetics and Neurodevelopmental Disorders

Cited by 65

New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics

Begemann, A., Sticht, H., Begtrup, A., Vitobello, A., Faivre, L., Banka, S., Alhaddad, B., Asadollahi, R., Becker, J., Bierhals, T., et al. (2021) · Genetics in Medicine

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

Cited by 61

NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism

Guo, H., Zhang, Q., Dai, R., Yu, B., Hoekzema, K., Tan, J., Tan, S., Jia, X., Chung, W. K., Hernan, R., et al. (2020) · The American Journal of Human Genetics

Genetics and Neurodevelopmental DisordersAutism Spectrum Disorder Research

Cited by 38

Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies

Küry, S., Stanton, J. E., van Woerden, G., Hsieh, T.-C., Rosenfelt, C., Scott-Boyer, M. P., Most, V., Wang, T., Papendorf, J. J., de Konink, C., et al. (2024) · medRxiv

Genetics and Neurodevelopmental DisordersUbiquitin and proteasome pathways

Cited by 6

Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies

Küry, S., Stanton, J. E., van Woerden, G. M., Bosc-Rosati, A., Hsieh, T.-C., Bray, L., Oloudé, M., Rosenfelt, C., Scott-Boyer, M. P., Most, V., et al. (2025) · Nature Communications

Ubiquitin and proteasome pathwaysGenetics and Neurodevelopmental Disorders

Cited by 3