Thonberg H

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]

Massive parallel sequencing in individuals with multiple primary tumours reveals the benefit of re-analysis.

Wallander K, Thonberg H, Nilsson D, Tham E

Hered Cancer Clin Pract 19 (1) 46 [2021-10-28; online 2021-10-28]

Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Service] Clinical Genomics Stockholm [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]