Marlene Ek

Artiklar

Article: SCIENTIFIC REPORTS. 2024;14(1):9000

Long-read sequencing and optical mapping generates near T2T assemblies that resolves a centromeric translocation.

Ten Berk de Boer E; Ameur A; Bunikis I; Ek M; Stattin E-L; Feuk L; Eisfeldt J; Lindstrand A
Article: FRONTIERS IN NEUROLOGY. 2023;14:1170005

Genome sequencing with comprehensive variant calling identifies structural variants and repeat expansions in a large fraction of individuals with ataxia and/or neuromuscular disorders.

Ek M; Nilsson D; Engvall M; Malmgren H; Thonberg H; Pettersson M; Anderlid B-M; Hammarsjö A; Helgadottir HT; Arnardottir S; Naess K; Nennesmo I; Paucar M; Hjartarson HT; Press R; Solders G; Sejersen T; Lindstrand A; Kvarnung M
Article: GENETICS IN MEDICINE. 2022;24(11):2296-2307

Genome sequencing is a sensitive first-line test to diagnose individuals with intellectual disability.

Lindstrand A; Ek M; Kvarnung M; Anderlid B-M; Björck E; Carlsten J; Eisfeldt J; Grigelioniene G; Gustavsson P; Hammarsjö A; Helgadóttir HT; Hellström-Pigg M; Kuchinskaya E; Lagerstedt-Robinson K; Levin L-Å; Lieden A; Lindelöf H; Malmgren H; Nilsson D; Svensson E; Paucar M; Sahlin E; Tesi B; Tham E; Winberg J; Winerdal M; Wincent J; Johansson Soller M; Pettersson M; Nordgren A