Publications

A complete list of the publications by the CERC members can be found on PubMed :

To access a review (published with Jacques Fellay, MD, PhD) on genomic medicine in clinical practice, follow this link: → pdf.

RECENT publications

  1. Failure to replicate the association of rare loss-of-function variants in type I IFN immunity genes with severe COVID-19. Povysil G, Butler-Laporte G, Shang N, Weng C, Khan A, Et al. medRxiv. 2020 Dec 21:2020.12.18.20248226. doi: 10.1101/2020.12.18.20248226. Preprint. PMID: 33398295

  2. The effect of angiotensin-converting enzyme levels on Covid-19 susceptibility and severity: a Mendelian randomization study. Butler-Laporte G, Nakanishi T, Mooser V, Renieri A, Amitrano S, Zhou S, Chen Y, Forgetta V, Richards JB. Int J Epidemiol. 2020 Dec 8:dyaa229. doi: 10.1093/ije/dyaa229. Online ahead of print. PMID: 33349849

  3. Genome-wide association study identifies 48 common genetic variants associated with handedness. Cuellar-Partida G, Tung JY, Eriksson N, Albrecht E, Aliev F, Et al. Nat Hum Behav. 2021 Jan;5(1):59-70. doi: 10.1038/s41562-020-00956-y. Epub 2020 Sep 28. PMID: 32989287

  4. Modeling consent in the time of COVID-19. Knoppers BM, Beauvais MJS, Joly Y, Zawati MH, Rousseau S, Chassé M, Mooser V. J Law Biosci. 2020 May 8;7(1):lsaa020. doi: 10.1093/jlb/lsaa020. eCollection 2020 Jan-Jun. PMID: 32728465

  5. The undiagnosed disease burden associated with alpha-1 antitrypsin deficiency genotypes. Nakanishi T, Forgetta V, Handa T, Hirai T, Mooser V, Lathrop GM, Cookson WOCM, Richards JB. Eur Respir J. 2020 Dec 10;56(6):2001441. doi: 10.1183/13993003.01441-2020. Print 2020 Dec. PMID: 32675199

  6. A Polygenic Risk Score as a Risk Factor for Medication-Associated Fractures. Manousaki D, Forgetta V, Keller-Baruch J, Zhao K, Greenwood CM, Mooser V, Bassett JD, Leslie WD, Richards JB. J Bone Miner Res. 2020 Oct;35(10):1935-1941. doi: 10.1002/jbmr.4104. Epub 2020 Jul 20. PMID: 32511779

  7. Study design of Dal-GenE, a pharmacogenetic trial targeting reduction of cardiovascular events with dalcetrapib. Tardif JC, Dubé MP, Pfeffer MA, Waters DD, Koenig W, Maggioni AP, McMurray JJV, Mooser V, White HD, Heinonen T, Black DM, Guertin MC; dal-GenE Investigators. Am Heart J. 2020 Apr;222:157-165. doi: 10.1016/j.ahj.2020.01.007. Epub 2020 Jan 17. PMID: 32087417

Outstanding publications

  1. High participation rate among 25 721 patients with broad age range in a hospital-based research project involving whole-genome sequencing - the Lausanne Institutional Biobank. Bochud M, Currat C, Chapatte L, Roth C, Mooser V. Swiss Med Wkly. 2017 Oct 20;147:w14528. doi: 10.4414/smw.2017.14528. eCollection 2017. PMID: 29063527

  2. Identification and molecular characterisation of Lausanne Institutional Biobank participants with familial hypercholesterolaemia - a proof-of-concept study. Maurer F, Pradervand S, Guilleret I, Nanchen D, Maghraoui A, Chapatte L, Bojkowska K, Bhuiyan ZA, Jacquemont N, Harshman K, Mooser V. Swiss Med Wkly. 2016 Aug 6;146:w14326. doi: 10.4414/smw.2016.14326. eCollection 2016. PMID: 27497240

  3. The Lausanne Institutional Biobank: a new resource to catalyse research in personalised medicine and pharmaceutical sciences. Mooser V, Currat C. Swiss Med Wkly. 2014 Dec 4;144:w14033. doi: 10.4414/smw.2014.14033. eCollection 2014. PMID: 25474562

  4. An abundance of rare functional variants in 202 drug target genes sequenced in 14,002 people. Nelson MR, Wegmann D, Ehm MG, Kessner D, St Jean P, Et al. Science. 2012 Jul 6;337(6090):100-4. doi: 10.1126/science.1217876. Epub 2012 May 17. PMID: 22604722

  5. Use of genome-wide association studies for drug repositioning. Sanseau P, Agarwal P, Barnes MR, Pastinen T, Richards JB, Cardon LR, Mooser V. Nat Biotechnol. 2012 Apr 10;30(4):317-20. doi: 10.1038/nbt.2151. PMID: 22491277

  6. Deep sequencing of the LRRK2 gene in 14,002 individuals reveals evidence of purifying selection and independent origin of the p.Arg1628Pro mutation in Europe. Rubio JP, Topp S, Warren L, St Jean PL, Wegmann D, Et al. 2012 Jul;33(7):1087-98. doi: 10.1002/humu.22075. Epub 2012 Apr 4. PMID: 22415848

  7. Sequencing of Lp-PLA2-encoding PLA2G7 gene in 2000 Europeans reveals several rare loss-of-function mutations. Song K, Nelson MR, Aponte J, Manas ES, Bacanu SA, Yuan X, Kong X, Cardon L, Mooser VE, Whittaker JC, Waterworth DM. Pharmacogenomics J. 2012 Oct;12(5):425-31. doi: 10.1038/tpj.2011.20. Epub 2011 May 24. PMID: 21606947

  8. Population-based genome-wide association studies reveal six loci influencing plasma levels of liver enzymes. Yuan X, Waterworth D, Perry JR, Lim N, Song K, Et al. Am J Hum Genet. 2008 Oct;83(4):520-8. doi: 10.1016/j.ajhg.2008.09.012. PMID: 18940312

  9. Male-pattern baldness susceptibility locus at 20p11. Richards JB, Yuan X, Geller F, Waterworth D, Bataille V, Et al. Nat Genet. 2008 Nov;40(11):1282-4. doi: 10.1038/ng.255. Epub 2008 Oct 12. PMID: 18849991

  10. Prevalence of obesity and abdominal obesity in the Lausanne population. Marques-Vidal P, Bochud M, Mooser V, Paccaud F, Waeber G, Vollenweider P. BMC Public Health. 2008 Sep 24;8:330. doi: 10.1186/1471-2458-8-330. PMID: 18816372

  11. Pharmacological effects of lipid-lowering drugs recapitulate with a larger amplitude the phenotypic effects of common variants within their target genes. Knouff CW, Lim N, Song K, Yuan X, Walker MC, Townsend R, Waeber G, Matthews PM, Vollenweider P, Waterworth DM, Mooser V. Pharmacogenet Genomics. 2008 Dec;18(12):1051-7. doi: 10.1097/FPC.0b013e32831270eb. PMID: 18787507