Author
Ljubljana University Medical CentreORCID 0000-0003-4498-1042Unclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
3 papers
Recent·Most cited
Philip M. Boone, Serkan Erdin, Abucar Mohamed…·Ilaria Parenti
The paper identifies WAPL as a novel cohesinopathy gene and driver of a genomic disorder, showing its role in developmental delay and other anomalies through clinical, in vitro, and in vivo analyses.
Annalisa Vetro, Cristiana Pelorosso, Simona Balestrini…·Ellen Thomas
This study identifies TMEM63B variants in patients with developmental and epileptic encephalopathy and neurodegeneration, showing altered cation currents and hematological abnormalities.
Hellen Lesmann, Alexander Hustinx, Shahida Moosa…·Miray Karakoyun
The paper introduces the GestaltMatcher Database (GMDB), a global facial phenotypic reference for rare diseases, showing improved NGP performance with diverse ancestry data.