Author
Istituto delle Scienze Neurologiche di BolognaORCID 0000-0001-7979-9895Unclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
3 papers
Recent·Most cited
Joohyun Park, Zakaria Eddafir, Josua Kegele…·Holger Lerche
This study evaluates the diagnostic value of long-read genome sequencing in DEE patients, finding it particularly effective for resolving complex structural variants not detected by short-read sequencing.
Vicente A. Yépez, Rebeka Luknárová, Danique Beijer…·Julien Gagneur
The paper presents a standardized RNA-seq analysis framework for rare disease diagnosis, identifying molecular diagnoses in 7.7% of previously undiagnosed cases.
Hannah C. Happ, Lynette Grant Sadleir, Matthew Zemel…·Gemma L. Carvill
The paper reports a cohort of 17 patients with pathogenic KCNH5 variants causing neurodevelopmental disorders and epilepsy, identifying genotype-phenotype correlations.