Sorlin, Arthur

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

Second-tier trio exome sequencing after negative solo clinical exome sequencing: an efficient strategy to increase diagnostic yield and decipher molecular bases in undiagnosed developmental disorders

Tran Mau-Them, F., Moutton, S., Racine, C., Vitobello, A., Bruel, A.-L., Nambot, S., Kushner, S. A., de Vrij, F. M. S., Lehalle, D., Jean-Marçais, N., et al. (2020) · Human Genetics

Genomics and Rare DiseasesConnective tissue disorders research

Cited by 14

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