Associated Papers
Whole Exome Sequencing of 23 Multigeneration Idiopathic Scoliosis Families Reveals Enrichments in Cytoskeletal Variants, Suggests Highly Polygenic Disease.
Terhune EA et al.
Genes, 2021
34208743 (PubMed )
Supplement: genes-12-00922-s001.zip › genes-1246102-supplementary-final › File_S2.pdf
Phenotypic severity in a family with MEND syndrome is directly associated with the accumulation of potentially functional variants of cholesterol homeostasis genes.
Barboza-Cerda MC et al.
Molecular Genetics & Genomic Medicine, 2019
XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.
Talukder AK et al.
Plos One, 2015
25905921 (PubMed )
Supplement: pone.0123569.s008.xls › BC9_ERR166333
Screening of three novel candidate genes in arrhythmogenic right ventricular cardiomyopathy.
Christensen AH et al.
Genetic Testing and Molecular Biomarkers, 2011
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