Graff C

A de novo, mosaic and complex chromosome 21 rearrangement causes APP triplication and familial autosomal dominant early onset Alzheimer disease.

Ehn E, Eisfeldt J, Laffita-Mesa JM, ..., Nennesemo I, Graff C

Sci Rep 15 (1) 2912 [2025-01-23; online 2025-01-23]

Clinical Genomics [Service] Clinical Genomics Stockholm [Service] NGI Short read [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]

Plasma metabolomics of presymptomatic PSEN1-H163Y mutation carriers: a pilot study.

Natarajan K, Ullgren A, Khoshnood B, ..., Blennow K, Graff C

Ann Clin Transl Neurol 8 (3) 579-591 [2021-03-00; online 2021-01-21]

Bioinformatics (NBIS) [Service] Bioinformatics Support and Infrastructure [Service] Bioinformatics Support for Computational Resources [Service] Bioinformatics Support, Infrastructure and Training [Service] Swedish Metabolomics Centre [Service]