Rauch, Anita

Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype

Hiatt, S. M., Trajkova, S., Sebastiano, M. R., Partridge, E. C., Abidi, F. E., Anderson, A., Ansar, M., Antonarakis, S. E., Azadi, A., Bachmann-Gagescu, R., et al. (2023) · The American Journal of Human Genetics

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

Cited by 21

Novel STRA6 null mutations in the original family described with Matthew–Wood syndrome

Pasutto, F., Flinter, F., Rauch, A., & Reis, A. (2018) · American Journal of Medical Genetics Part A

Genomics and Rare DiseasesMetabolism and Genetic Disorders

Cited by 17

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