Associated Papers
Pathogenic Mutations and Putative Phenotype-Affecting Variants in Polish Myofibrillar Myopathy Patients.
Potulska-Chromik A et al.
Journal of Clinical Medicine, 2021
33652732 (PubMed )
Supplement: jcm-10-00914-s001.zip › jcm-1102563-supplementary.xlsx › Variants_after_filtering
Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.
Fichna JP et al.
Human Genomics, 2018
29970176 (PubMed )
Supplement: 40246_2018_167_MOESM3_ESM.xlsx › skeletal_muscle
Determining the prevalence of McArdle disease from gene frequency by analysis of next-generation sequencing data.
De Castro M et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2015
De novo mutations in moderate or severe intellectual disability.
Hamdan FF et al.
Plos Genetics, 2014
25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1652.584
LipidSeq: a next-generation clinical resequencing panel for monogenic dyslipidemias.
Johansen CT et al.
Journal of Lipid Research, 2014
24503134 (PubMed )
Supplement: supp_D045963_jlr.D045963-1.pdf
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