Author
Erasmus MCORCID 0000-0003-3531-5136Unclaimed ORCID profile · follow to get notified of new preprints
3 papers
Recent·Most cited
Daniel Greene, Rodrigo Mendez, Jonathan Gill Lees…·Ernest Turro
The paper identifies biallelic variants in RNU2-2 as a common cause of recessive neurodevelopmental disorders, showing higher prevalence than the dominant form in England.
Tobias Brünger, Ilona Krey, Suyeon Kim…·Dennis Lal
The paper introduces Gene Portals, a framework that integrates clinical, functional, and structural data for rare disease variant classification, demonstrating its utility across five gene-specific portals.
Angela Peron, Felice D’Arco, Kimberly A. Aldinger…·Cristina Dias
This study defines the clinical spectrum and genotype-phenotype correlations of BCL11A-IDD by analyzing 75 patients with molecular and clinical data.