S. Välipakka

Is Gene-Size an Issue for the Diagnosis of Skeletal Muscle Disorders?

B. Udd, M. Savarese, P. Hackman, 2020, Journal of neuromuscular diseases.

An unusual ryanodine receptor 1 (RYR1) phenotype

M. Pane, E. Mercuri, P. Hartikainen, 2019, Neurology.

Recessive PYROXD1 mutations cause adult-onset limb-girdle-type muscular dystrophy

A. Paetau, S. Friant, B. Udd, 2018, Journal of Neurology.

MED12 mutations and FH inactivation are mutually exclusive in uterine leiomyomas

L. Aaltonen, E. Pitkänen, T. Heikkinen, 2016, British Journal of Cancer.

Improving copy number variant detection from sequencing data with a combination of programs and a predictive model.

Salla Välipakka, Marco Savarese, Lydia Sagath, 2019, The Journal of molecular diagnostics : JMD.

Genotype–phenotype correlations in recessive titinopathies

M. Pane, E. Mercuri, F. Muntoni, 2020, Genetics in Medicine.

An Extended Targeted Copy Number Variation Detection Array Including 187 Genes for the Diagnostics of Neuromuscular Disorders

K. Pelin, V. Lehtokari, C. Wallgren‐Pettersson, 2018, Journal of neuromuscular diseases.

Congenital asymmetric distal myopathy with hemifacial weakness caused by a heterozygous large de novo mosaic deletion in nebulin

K. Pelin, V. Lehtokari, C. Wallgren‐Pettersson, 2021, Neuromuscular Disorders.

Copy number variation analysis increases the diagnostic yield in muscle diseases

K. Pelin, A. López de Munain, A. Sáenz, 2017, Neurology: Genetics.