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Page 1
Diagnostic yield of 1000 trio analyses with exome and genome sequencing in a clinical setting.
Malmgren H, Kvarnung M, Gustafsson P, Anderlid BM, Arthur C, Carlsten J, De Geer K, Ehn E, Grigelioniené G, Hammarsjö A, Helgadottir HT, Hellström-Pigg M, Iwarsson E, Kuchinskaya E, Lindelöf H, Mannila M, Nilsson D, Pettersson M, Rudd E, Sahlin E, Tesi B, Tham E, Thonberg H, Westenius E, Winberg J, Winerdal M, Nordenskjöld M, Johansson-Soller M, Wirta V, Nordgren A, Lindstrand A, Lagerstedt-Robinson K. Malmgren H, et al. Among authors: kvarnung m. Front Genet. 2025 Jun 20;16:1580879. doi: 10.3389/fgene.2025.1580879. eCollection 2025. Front Genet. 2025. PMID: 40620702 Free PMC article.
Genome sequencing is a sensitive first-line test to diagnose individuals with intellectual disability.
Lindstrand A, Ek M, Kvarnung M, Anderlid BM, Björck E, Carlsten J, Eisfeldt J, Grigelioniene G, Gustavsson P, Hammarsjö A, Helgadóttir HT, Hellström-Pigg M, Kuchinskaya E, Lagerstedt-Robinson K, Levin LÅ, 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. Lindstrand A, et al. Among authors: kvarnung m. Genet Med. 2022 Nov;24(11):2296-2307. doi: 10.1016/j.gim.2022.07.022. Epub 2022 Sep 6. Genet Med. 2022. PMID: 36066546 Free article.
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 BM, Hammarsjö A, Helgadottir HT, Arnardottir S, Naess K, Nennesmo I, Paucar M, Hjartarson HT, Press R, Solders G, Sejersen T, Lindstrand A, Kvarnung M. Ek M, et al. Among authors: kvarnung m. Front Neurol. 2023 May 18;14:1170005. doi: 10.3389/fneur.2023.1170005. eCollection 2023. Front Neurol. 2023. PMID: 37273706 Free PMC article.
Genome sequencing in a cohort of 32 fetuses with genetic skeletal disorders.
Lindelöf H, Hammarsjö A, Voss U, Gaetana Piticchio S, Conner P, Papadogiannakis N, Batkovskyte D, Orellana L, Kvarnung M, Malmgren H, Lagerstedt Robinson K, Nordgren A, Lindstrand A, Nishimura G, Grigelioniene G. Lindelöf H, et al. Among authors: kvarnung m. Eur J Hum Genet. 2025 Jun 11. doi: 10.1038/s41431-025-01886-x. Online ahead of print. Eur J Hum Genet. 2025. PMID: 40500351
Ataxia in Patients With Bi-Allelic NFASC Mutations and Absence of Full-Length NF186.
Kvarnung M, Shahsavani M, Taylan F, Moslem M, Breeuwsma N, Laan L, Schuster J, Jin Z, Nilsson D, Lieden A, Anderlid BM, Nordenskjöld M, Syk Lundberg E, Birnir B, Dahl N, Nordgren A, Lindstrand A, Falk A. Kvarnung M, et al. Front Genet. 2019 Sep 24;10:896. doi: 10.3389/fgene.2019.00896. eCollection 2019. Front Genet. 2019. PMID: 31608123 Free PMC article.
From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability.
Lindstrand A, Eisfeldt J, Pettersson M, Carvalho CMB, Kvarnung M, Grigelioniene G, Anderlid BM, Bjerin O, Gustavsson P, Hammarsjö A, Georgii-Hemming P, Iwarsson E, Johansson-Soller M, Lagerstedt-Robinson K, Lieden A, Magnusson M, Martin M, Malmgren H, Nordenskjöld M, Norling A, Sahlin E, Stranneheim H, Tham E, Wincent J, Ygberg S, Wedell A, Wirta V, Nordgren A, Lundin J, Nilsson D. Lindstrand A, et al. Among authors: kvarnung m. Genome Med. 2019 Nov 7;11(1):68. doi: 10.1186/s13073-019-0675-1. Genome Med. 2019. PMID: 31694722 Free PMC article.
47 results