Publications

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Author Title [ Year(Asc)]
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2021
Weng, P. L. et al. De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis. Am J Hum Genet 108, 357-367 (2021).
2020
Schneider, R. et al. DAAM2 Variants Cause Nephrotic Syndrome via Actin Dysregulation. Am J Hum Genet 107, 1113-1128 (2020).
Zech, M. et al. Monogenic variants in dystonia: an exome-wide sequencing study. Lancet Neurol 19, 908-918 (2020).
2019
Zweier, M. et al. Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures. Eur J Hum Genet 27, 747-759 (2019).