Publications by authors named "Emma Ehn"

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Diagnostic yield of 1000 trio analyses with exome and genome sequencing in a clinical setting.
Helena Malmgren, Malin Kvarnung, Peter Gustafsson, Britt-Marie Anderlid, Cecilia Arthur, Emma Ehn

Front Genet· June 2025

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Author Correction: A de novo, mosaic and complex chromosome 21 rearrangement causes APP triplication and familial autosomal dominant early onset Alzheimer disease.
Emma Ehn, Jesper Eisfeldt, Jose M Laffita-Mesa, Håkan Thonberg, Jacqueline Schoumans

Sci Rep· March 2025

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A de novo, mosaic and complex chromosome 21 rearrangement causes APP triplication and familial autosomal dominant early onset Alzheimer disease.
Emma Ehn, Jesper Eisfeldt, Jose M Laffita-Mesa, Håkan Thonberg, Jacqueline Schoumans

Sci Rep· January 2025

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