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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: hjartarson ht. Front Neurol. 2023 May 18;14:1170005. doi: 10.3389/fneur.2023.1170005. eCollection 2023. Front Neurol. 2023. PMID: 37273706 Free PMC article.
International multidisciplinary collaboration toward an annotated definition of arthrogryposis multiplex congenita.
Dahan-Oliel N, Cachecho S, Barnes D, Bedard T, Davison AM, Dieterich K, Donohoe M, Fąfara A, Hamdy R, Hjartarson HT, S Hoffman N, Kimber E, Komolkin I, Lester R, Pontén E, van Bosse HJP, Hall JG. Dahan-Oliel N, et al. Among authors: hjartarson ht. Am J Med Genet C Semin Med Genet. 2019 Sep;181(3):288-299. doi: 10.1002/ajmg.c.31721. Epub 2019 Jul 7. Am J Med Genet C Semin Med Genet. 2019. PMID: 31282072 Free PMC article.