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Journal of Neuromuscular Diseases|March 17, 2020
Is Gene-Size an Issue for the Diagnosis of Skeletal Muscle Disorders?Marco Savarese, Salla Välipakka, Mridul Johari, et al.The Journal of Molecular Diagnostics : JMD|November 17, 2019
Improving Copy Number Variant Detection from Sequencing Data with a Combination of Programs and a Predictive ModelSalla Välipakka, Marco Savarese, Lydia Sagath, et al.Journal of Neuromuscular Diseases|July 25, 2018
An Extended Targeted Copy Number Variation Detection Array Including 187 Genes for the Diagnostics of Neuromuscular DisordersLydia Sagath, Vilma-Lotta Lehtokari, Salla Välipakka, et al.Neuromuscular Disorders : NMD|May 2, 2021
Congenital asymmetric distal myopathy with hemifacial weakness caused by a heterozygous large de novo mosaic deletion in nebulinLydia Sagath, Vilma-Lotta Lehtokari, Salla Välipakka, et al.Neurology. Genetics|September 22, 2018
Copy number variation analysis increases the diagnostic yield in muscle diseasesSalla Välipakka, Marco Savarese, Mridul Johari, et al.Journal of Neurology|December 6, 2018
Recessive PYROXD1 mutations cause adult-onset limb-girdle-type muscular dystrophyMarkus T Sainio, Salla Välipakka, Bruno Rinaldi, et al.Neurology|March 8, 2019
An unusual ryanodine receptor 1 (RYR1) phenotype: Mild calf-predominant myopathyManu Jokela, Giorgio Tasca, Anna Vihola, et al.British Journal of Cancer|May 18, 2016
MED12 mutations and FH inactivation are mutually exclusive in uterine leiomyomasKati Kämpjärvi, Netta Mäkinen, Miika Mehine, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 12, 2020
Genotype-phenotype correlations in recessive titinopathiesMarco Savarese, Anna Vihola, Emily C Oates, et al.Pageof 1