| 1 | 
                
                    Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
                    
                        
                    
                 | 
            
                        
                | 2 | 
                
                    EMG and nerve conduction studies in children with congenital muscular dystrophy.Muscle Nerve. 2004 Feb;29(2):292-9. doi: 10.1002/mus.10544.
                    
                        
                    
                 | 
            
                        
                | 3 | 
                
                    Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy. Hum Mol Genet. 2005 Jan 15;14(2):279-93. doi: 10.1093/hmg/ddi025. Epub 2004 Nov 24.
                    
                        
                    
                 | 
            
                        
                | 4 | 
                
                    Proteomics analysis identifies new markers associated with capillary cerebral amyloid angiopathy in Alzheimer's disease.Acta Neuropathol Commun. 2018 Jun 4;6(1):46. doi: 10.1186/s40478-018-0540-2.
                    
                        
                    
                 | 
            
                        
                | 5 | 
                
                    The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.
                    
                        
                    
                 | 
            
                        
                | 6 | 
                
                    Study of consanguineous populations can improve the annotation of SNP databases.Eur J Med Genet. 2011 Mar-Apr;54(2):118-20. doi: 10.1016/j.ejmg.2010.10.009. Epub 2010 Oct 28.
                    
                        
                    
                 | 
            
                        
                | 7 | 
                
                    A novel COL6A2 mutation causing late-onset limb-girdle muscular dystrophy.J Neurol. 2019 Jul;266(7):1649-1654. doi: 10.1007/s00415-019-09307-y. Epub 2019 Apr 8.
                    
                        
                    
                 | 
            
                        
                | 8 | 
                
                    Exon skipping mutations in collagen VI are common and are predictive for severity and inheritance. Hum Mutat. 2008 Jun;29(6):809-22. doi: 10.1002/humu.20704.
                    
                        
                    
                 | 
            
                        
                | 9 | 
                
                    Association of Common Susceptibility Variants of Pancreatic Cancer in Higher-Risk Patients: A PACGENE Study.Cancer Epidemiol Biomarkers Prev. 2016 Jul;25(7):1185-91. doi: 10.1158/1055-9965.EPI-15-1217. Epub 2016 May 16.
                    
                        
                    
                 | 
            
                        
                | 10 | 
                
                    Identification of COL6A2 mutations in progressive myoclonus epilepsy syndrome.Hum Genet. 2013 Mar;132(3):275-83. doi: 10.1007/s00439-012-1248-1. Epub 2012 Nov 9.
                    
                        
                    
                 | 
            
                        
                | 11 | 
                
                    Expression of the collagen VI 5 and 6 chains in normal human skin and in skin of patients with collagen VI-related myopathies.J Invest Dermatol. 2011 Jan;131(1):99-107. doi: 10.1038/jid.2010.284. Epub 2010 Sep 30.
                    
                        
                    
                 | 
            
                        
                | 12 | 
                
                    A collagen VI-dependent pathogenic mechanism for Hirschsprung's disease.J Clin Invest. 2015 Dec;125(12):4483-96. doi: 10.1172/JCI83178. Epub 2015 Nov 16.
                    
                        
                    
                 | 
            
                        
                | 13 | 
                
                    Ten years of screening for congenital disorders of glycosylation in Argentina: case studies and pitfalls.Pediatr Res. 2018 Dec;84(6):837-841. doi: 10.1038/s41390-018-0206-6. Epub 2018 Oct 18.
                    
                        
                    
                 | 
            
                        
                | 14 | 
                
                    Collagen VI-Related Dystrophies. 2004 Jun 25 [updated 2021 Mar 11]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(?) [Internet]. Seattle (WA): University of Washington, Seattle; 1993C2024.
                    
                        
                    
                 | 
            
                        
                | 15 | 
                
                    Autosomal recessive myosclerosis myopathy is a collagen VI disorder. Neurology. 2008 Oct 14;71(16):1245-53. doi: 10.1212/01.wnl.0000327611.01687.5e.
                    
                        
                    
                 | 
            
                        
                | 16 | 
                
                    Toxicological effects of ambient fine (PM(2.5-0.18)) and ultrafine (PM(0.18)) particles in healthy and diseased 3D organo-typic mucocilary-phenotype models.Environ Res. 2019 Sep;176:108538. doi: 10.1016/j.envres.2019.108538. Epub 2019 Jun 15.
                    
                        
                    
                 | 
            
                        
                | 17 | 
                
                    Mitochondrial dysregulation of osteoarthritic human articular chondrocytes analyzed by proteomics: a decrease in mitochondrial superoxide dismutase points to a redox imbalance.Mol Cell Proteomics. 2009 Jan;8(1):172-89. doi: 10.1074/mcp.M800292-MCP200. Epub 2008 Sep 9.
                    
                        
                    
                 | 
            
                        
                | 18 | 
                
                    Integrative omics data analyses of repeated dose toxicity of valproic acid in vitro reveal new mechanisms of steatosis induction. Toxicology. 2018 Jan 15;393:160-170.
                    
                        
                    
                 | 
            
                        
                | 19 | 
                
                    Bringing in vitro analysis closer to in vivo: studying doxorubicin toxicity and associated mechanisms in 3D human microtissues with PBPK-based dose modelling. Toxicol Lett. 2018 Sep 15;294:184-192.
                    
                        
                    
                 | 
            
                        
                | 20 | 
                
                    Temozolomide induces activation of Wnt/-catenin signaling in glioma cells via PI3K/Akt pathway: implications in glioma therapy. Cell Biol Toxicol. 2020 Jun;36(3):273-278. doi: 10.1007/s10565-019-09502-7. Epub 2019 Nov 22.
                    
                        
                    
                 | 
            
                        
                | 21 | 
                
                    Selenium and vitamin E: cell type- and intervention-specific tissue effects in prostate cancer. J Natl Cancer Inst. 2009 Mar 4;101(5):306-20.
                    
                        
                    
                 | 
            
                        
                | 22 | 
                
                    DNA methylome-wide alterations associated with estrogen receptor-dependent effects of bisphenols in breast cancer. Clin Epigenetics. 2019 Oct 10;11(1):138. doi: 10.1186/s13148-019-0725-y.
                    
                        
                    
                 | 
            
                        
                | 23 | 
                
                    Identification of mechanisms of action of bisphenol a-induced human preadipocyte differentiation by transcriptional profiling. Obesity (Silver Spring). 2014 Nov;22(11):2333-43.
                    
                        
                    
                 | 
            
                        
                | 24 | 
                
                    Mitochondrial Uncoupling Induces Epigenome Remodeling and Promotes Differentiation in Neuroblastoma. Cancer Res. 2023 Jan 18;83(2):181-194. doi: 10.1158/0008-5472.CAN-22-1029.
                    
                        
                    
                 | 
            
                        
                | 25 | 
                
                    Temporal changes in gene expression in the skin of patients treated with isotretinoin provide insight into its mechanism of action. Dermatoendocrinol. 2009 May;1(3):177-87.
                    
                        
                    
                 | 
            
                        
                | 26 | 
                
                    Proteomic analysis of human adipose tissue after rosiglitazone treatment shows coordinated changes to promote glucose uptake. Obesity (Silver Spring). 2010 Jan;18(1):27-34. doi: 10.1038/oby.2009.208. Epub 2009 Jun 25.
                    
                        
                    
                 | 
            
                        
                | 27 | 
                
                    Cytosine arabinoside induces ectoderm and inhibits mesoderm expression in human embryonic stem cells during multilineage differentiation. Br J Pharmacol. 2011 Apr;162(8):1743-56.
                    
                        
                    
                 | 
            
                        
                | 28 | 
                
                    Transcriptional profiling of testosterone-regulated genes in the skeletal muscle of human immunodeficiency virus-infected men experiencing weight loss. J Clin Endocrinol Metab. 2007 Jul;92(7):2793-802. doi: 10.1210/jc.2006-2722. Epub 2007 Apr 17.
                    
                        
                    
                 | 
            
                        
                | 29 | 
                
                    Identification of selective inhibitors of cancer stem cells by high-throughput screening. Cell. 2009 Aug 21;138(4):645-659. doi: 10.1016/j.cell.2009.06.034. Epub 2009 Aug 13.
                    
                        
                    
                 | 
            
                        
                | 30 | 
                
                    Increased expression of type VI collagen genes in drug-induced gingival enlargement. FEBS Lett. 1993 Nov 8;334(1):65-8. doi: 10.1016/0014-5793(93)81681-o.
                    
                        
                    
                 | 
            
                        
                | 31 | 
                
                    Ethyl carbamate induces cell death through its effects on multiple metabolic pathways. Chem Biol Interact. 2017 Nov 1;277:21-32.
                    
                        
                    
                 | 
            
                        
                | 32 | 
                
                    Calorie restriction-induced changes in the secretome of human adipocytes, comparison with resveratrol-induced secretome effects. Biochim Biophys Acta. 2014 Sep;1844(9):1511-22. doi: 10.1016/j.bbapap.2014.04.023. Epub 2014 May 5.
                    
                        
                    
                 | 
            
                        
                | 33 | 
                
                    Air pollution and DNA methylation alterations in lung cancer: A systematic and comparative study. Oncotarget. 2017 Jan 3;8(1):1369-1391. doi: 10.18632/oncotarget.13622.
                    
                        
                    
                 | 
            
                        
                | 34 | 
                
                    Bromodomain-containing protein 4 (BRD4) regulates RNA polymerase II serine 2 phosphorylation in human CD4+ T cells. J Biol Chem. 2012 Dec 14;287(51):43137-55.
                    
                        
                    
                 | 
            
                        
                | 35 | 
                
                    Cell-based two-dimensional morphological assessment system to predict cancer drug-induced cardiotoxicity using human induced pluripotent stem cell-derived cardiomyocytes. Toxicol Appl Pharmacol. 2019 Nov 15;383:114761. doi: 10.1016/j.taap.2019.114761. Epub 2019 Sep 15.
                    
                        
                    
                 | 
            
                        
                | 36 | 
                
                    Alternatives for the worse: Molecular insights into adverse effects of bisphenol a and substitutes during human adipocyte differentiation. Environ Int. 2021 Nov;156:106730. doi: 10.1016/j.envint.2021.106730. Epub 2021 Jun 27.
                    
                        
                    
                 | 
            
                        
                | 37 | 
                
                    Gene expression profiling of 30 cancer cell lines predicts resistance towards 11 anticancer drugs at clinically achieved concentrations. Int J Cancer. 2006 Apr 1;118(7):1699-712. doi: 10.1002/ijc.21570.
                    
                        
                    
                 | 
            
            
            
                 | 
                 | 
                 | 
                 | 
                 | 
                 |