The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study
2018 · European Journal of Human Genetics · 71 citations
https://doi.org/10.1038/s41431-018-0299-8
L
Laura Gogoll
Claim or correct this author profile
Claim this profile or suggest corrections to the name, affiliation, bio, photo, or paper titles. Approved changes appear as verified CitedEvidence overlays.
10
Papers
308
Citations
7
h-index
7
i10-index
Laura Gogoll is an academic researcher from University of Bern. The author has contributed to research in topics: Genomic variations and chromosomal abnormalities & Microtubule and mitosis dynamics & RNA modifications and cancer. The author has an h-index of 7, co-authored 9 publications.
ORCID: 0000-0002-0516-9409Papers by this author
worksIdentification and molecular characterisation of a homozygous missense mutation in the ADAMTS10 gene in a patient with Weill–Marchesani syndrome
2014 · European Journal of Human Genetics · 20 citations
https://doi.org/10.1038/ejhg.2014.264
Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy
2024 · Nature Communications · 4 citations
https://doi.org/10.1038/s41467-024-51310-z
Research topics
topicsChat about Author
Papers
Chat
Click to start Chat