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Lista de obras de Anaïs Begemann

Biallelic UFM1 and UFC1 mutations expand the essential role of ufmylation in brain development.

artículo científico publicado en 2018

Confirmation of mutations in PROSC as a novel cause of vitamin B 6 -dependent epilepsy.

artículo científico publicado en 2017

De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathy

scientific article published on 31 August 2018

Further corroboration of distinct functional features in SCN2A variants causing intellectual disability or epileptic phenotypes

artículo científico publicado en 2019

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

artículo científico publicado en 2020

Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures

artículo científico publicado en 2019

The HHID syndrome of hypertrichosis, hyperkeratosis, abnormal corpus callosum, intellectual disability, and minor anomalies is caused by mutations in ARID1B.

artículo científico publicado en 2017

The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study

scientific article published on 14 December 2018

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