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Nature Genetics|November 17, 2009
Genome-wide association study reveals genetic risk underlying Parkinson's diseaseJavier Simón-Sánchez, Claudia Schulte, Jose M Bras, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 20, 2022
Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophyJoohyun Park, Arianna Tucci, Valentina Cipriani, et al.Human Genomics|January 24, 2026
Genetic contribution to severe COVID-19 in adults under 60 years without major comorbidities in the German National Pandemic Cohort Network (NAPKON)Ayda Abolhassani, T Madhusankha Alawathurage, Axel Schmidt, et al.Medrxiv : the Preprint Server for Health Sciences|February 20, 2025
Progression of biological markers in spinocerebellar ataxia type 3: analysis of longitudinal data from the ESMI cohortMoritz Berger, Hector Garcia-Moreno, Monica Ferreira, et al.Human Mutation|February 18, 2022
The RD-Connect Genome-Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseasesSteven Laurie, Davide Piscia, Leslie Matalonga, et al.The Lancet Regional Health. Europe|July 18, 2025
Progression of biological markers in spinocerebellar ataxia type 3: longitudinal analysis of prospective data from the ESMI cohortMoritz Berger, Hector Garcia-Moreno, Mónica Ferreira, et al.Plos Pathogens|December 23, 2024
Systematic assessment of COVID-19 host genetics using whole genome sequencing dataAxel Schmidt, Nicolas Casadei, Fabian Brand, et al.Science (New York, N.Y.)|October 31, 2024
Brain malformations and seizures by impaired chaperonin function of TRiCFlorian Kraft, Piere Rodriguez-Aliaga, Weimin Yuan, et al.Nature Medicine|January 17, 2025
Genomic reanalysis of a pan-European rare-disease resource yields new diagnosesSteven Laurie, Wouter Steyaert, Elke de Boer, et al.Nature Communications|February 14, 2026
Loss-of-function variants in the CAPN1 activator CD99L2 cause X-linked spastic ataxiaBenita Menden, Rana D Incebacak Eltemur, German Demidov, et al.Pageof 32