Emma Ehn

Artiklar

Article: FRONTIERS IN GENETICS. 2025;16:1580879
Diagnostic yield of 1000 trio analyses with exome and genome sequencing in a clinical setting
Malmgren H; Kvarnung M; Gustafsson P; Anderlid B-M; Arthur C; Carlsten J; De Geer K; Ehn E; Grigelioniene G; Hammarsjo A; Helgadottir HT; Hellstrom-Pigg M; Iwarsson E; Kuchinskaya E; Lindelof H; Mannila M; Nilsson D; Pettersson M; Rudd E; Sahlin E; Tesi B; Tham E; Thonberg H; Westenius E; Winberg J; Winerdal M; Nordenskjold M; Johansson-Soller M; Wirta V; Nordgren A; Lindstrand A; Lagerstedt-Robinson K
Article: SCIENTIFIC REPORTS. 2025;15(1):2912
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; Thonberg H; Schoumans J; Portaankorva AM; Viitanen M; Lindstrand A; Nennesemo I; Graff C

Corrigendum: SCIENTIFIC REPORTS. 2025;15(1):10121
A de novo, mosaic and complex chromosome 21 rearrangement causes APP triplication and familial autosomal dominant early onset Alzheimer disease (vol 15, 2912, 2025)
Ehn E; Eisfeldt J; Laffita-Mesa JM; Thonberg H; Schoumans J; Portaankorva AM; Viitanen M; Lindstrand A; Nennesmo I; Graff C

Anknuten till Forskning, Neurobiologi, vårdvetenskap och samhälle, Karolinska Institutet, 2026-2029