Selected Publications: 20-25 publications listed in details with all the contributing authors, title of the papers, journal, dates.

  1. Paraboschi, E. M., Khera, A. V., Merlini, P. A., Gigante, L., Peyvandi, F., Chaffin, M., Menegatti, M., Busti, F., Girelli, D., Martinelli, N., Olivieri, O., Kathiresan, S., Ardissino, D., Asselta, R., & Duga, S. (2019). Rare variants lowering the levels of coagulation factor X are protective against ischemic heart disease. Haematologica, haematol.2019.237750. Advance online publication. https://doi.org/10.3324/haematol.2019.237750
  2. Paraboschi EM, Menegatti M, Rimoldi V, Borhany M, Abdelwahab M, Gemmati D, Peyvandi F, Duga S, Asselta R. Profiling the mutational landscape of coagulation factor V deficiency. Haematologica. 2019 Aug 8. pii: haematol.2019.232587. doi:10.3324/haematol.2019.232587. PubMed PMID: 31399523.
  3. Cardamone G, Paraboschi EM, Soldà G, Cantoni C, Supino D, Piccio L, Duga S, Asselta R. Not only cancer: the long non-coding RNA MALAT1 affects the repertoire of alternatively spliced transcripts and circular RNAs in multiple sclerosis. Hum Mol Genet. 2019 May 1;28(9):1414-1428. doi: 10.1093/hmg/ddy438. PubMed PMID:30566690.
  4. Straniero L, Rimoldi V, Samarani M, Goldwurm S, Di Fonzo A, Krüger R, Deleidi M, Aureli M, Soldà G, Duga S, Asselta R. The GBAP1 pseudogene acts as a ceRNA for the glucocerebrosidase gene GBA by sponging miR-22-3p. Sci Rep. 2017 Oct 5;7(1):12702. doi: 10.1038/s41598-017-12973-5. PubMed PMID: 28983119.
  5. Straniero L, Guella I, Cilia R, Parkkinen L, Rimoldi V, Young A, Asselta R, Soldà G, Sossi V, Stoessl AJ, Priori A, Nishioka K, Hattori N, Follett J, Rajput A, Blau N, Pezzoli G, Farrer MJ, Goldwurm S, Rajput AH, Duga S. DNAJC12 and dopa-responsive nonprogressive parkinsonism. Ann Neurol. 2017 Oct;82(4):640-646. doi: 10.1002/ana.25048. Epub 2017 Oct 11. PubMed PMID: 28892570.
  6. Todisco M, Fraccia TP, Smith GP, Corno A, Bethge L, Klussmann S, Paraboschi EM, Asselta R, Colombo D, Zanchetta G, Clark NA, Bellini T. Nonenzymatic Polymerization into Long Linear RNA Templated by Liquid Crystal Self-Assembly. ACS Nano. 2018. doi: 10.1021/acsnano.8b05821. [Epub ahead of print] PubMed PMID: 30280566.
  7. Asselta R, Paraboschi EM, Rimoldi V, Menegatti M, Peyvandi F, Salomon O, Duga S. Exploring the global landscape of genetic variation in coagulation factor XI deficiency. Blood. 2017;130:e1-e6. doi: 10.1182/blood-2017-04-780148. PubMed PMID: 28615222.
  8. Cardamone G, Paraboschi EM, Rimoldi V, Duga S, Soldà G, Asselta R. The Characterization of GSDMB Splicing and Backsplicing Profiles Identifies Novel Isoforms and a Circular RNA That Are Dysregulated in Multiple Sclerosis. Int J Mol Sci. 2017;18. pii: E576. doi: 10.3390/ijms18030576. PubMed PMID:28272342
  9. Khera AV, Won HH, Peloso GM, Lawson KS, Bartz TM, Deng X, van Leeuwen EM, Natarajan P, Emdin CA, Bick AG, Morrison AC, Brody JA, Gupta N, Nomura A, Kessler T, Duga S, Bis JC, van Duijn CM, Cupples LA, Psaty B, Rader DJ, Danesh J, Schunkert H, McPherson R, Farrall M, Watkins H, Lander E, Wilson JG, Correa A, Boerwinkle E, Merlini PA, Ardissino D, Saleheen D, Gabriel S, Kathiresan S. Diagnostic Yield and Clinical Utility of Sequencing Familial Hypercholesterolemia Genes in Patients With Severe Hypercholesterolemia. J Am Coll Cardiol. 2016 ;67:2578-89. doi: 10.1016/j.jacc.2016.03.520. Epub 2016 Apr 3. PubMed PMID: 27050191
  10. Asselta R, Robusto M, Braidotti P, Peyvandi F, Nastasio S, D’Antiga L, Perisic VN, Maggiore G, Caccia S, Duga S. Hepatic fibrinogen storage disease: identification of two novel mutations (p.Asp316Asn, fibrinogen Pisa and p.Gly366Ser, fibrinogen Beograd) impacting on fibrinogen γ-module. J Thromb Haemost. 2015;13:1459-67. doi: 10.1111/jth.13021. PubMed PMID: 26039544
  11. Do R, Stitziel NO, Won HH, Jørgensen AB, Duga S, Angelica Merlini P, Kiezun A, Farrall M, Goel A, Zuk O, Guella I, Asselta R, Lange LA, Peloso GM, Auer PL; NHLBI Exome Sequencing Project, Girelli D, Martinelli N, Farlow DN, DePristo MA, Roberts R, Stewart AF, Saleheen D, Danesh J, Epstein SE, Sivapalaratnam S, Hovingh GK, Kastelein JJ, Samani NJ, Schunkert H, Erdmann J, Shah SH, Kraus WE, Davies R, Nikpay M, Johansen CT, Wang J, Hegele RA, Hechter E, Marz W, Kleber ME, Huang J, Johnson AD, Li M, Burke GL, Gross M, Liu Y, Assimes TL, Heiss G, Lange EM, Folsom AR, Taylor HA, Olivieri O, Hamsten A, Clarke R, Reilly DF, Yin W, Rivas MA, Donnelly P, Rossouw JE, Psaty BM, Herrington DM, Wilson JG, Rich SS, Bamshad MJ, Tracy RP, Cupples LA, Rader DJ, Reilly MP, Spertus JA, Cresci S, Hartiala J, Tang WH, Hazen SL, Allayee H, Reiner AP, Carlson CS, Kooperberg C, Jackson RD, Boerwinkle E, Lander ES, Schwartz SM, Siscovick DS, McPherson R, Tybjaerg-Hansen A, Abecasis GR, Watkins H, Nickerson DA, Ardissino D, Sunyaev SR, O’Donnell CJ, Altshuler D, Gabriel S, Kathiresan S. Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction. Nature. 2015;518:102-6. doi: 10.1038/nature13917. PubMed PMID: 25487149
  12. Thormaehlen AS, Schuberth C, Won HH, Blattmann P, Joggerst-Thomalla B, Theiss S, Asselta R, Duga S, Merlini PA, Ardissino D, Lander ES, Gabriel S, Rader DJ, Peloso GM, Pepperkok R, Kathiresan S, Runz H. Systematic cell-based phenotyping of missense alleles empowers rare variant association studies: a case for LDLR and myocardial infarction. PLoS Genet. 2015;11:e1004855. doi:10.1371/journal.pgen.1004855. eCollection 2015 Feb. Erratum in: PLoS Genet. 2015;11(3):e1005060. PubMed PMID: 25647241
  13. Myocardial Infarction Genetics Consortium Investigators, Stitziel NO, Won HH, Morrison AC, Peloso GM, Do R, Lange LA, Fontanillas P, Gupta N, Duga S, Goel A, Farrall M, Saleheen D, Ferrario P, König I, Asselta R, Merlini PA, Marziliano N, Notarangelo MF, Schick U, Auer P, Assimes TL, Reilly M, Wilensky R, Rader DJ, Hovingh GK, Meitinger T, Kessler T, Kastrati A, Laugwitz KL, Siscovick D, Rotter JI, Hazen SL, Tracy R, Cresci S, Spertus J, Jackson R, Schwartz SM, Natarajan P, Crosby J, Muzny D, Ballantyne C, Rich SS, O’Donnell CJ, Abecasis G, Sunyaev S, Nickerson DA, Buring JE, Ridker PM, Chasman DI, Austin E, Ye Z, Kullo IJ, Weeke PE, Shaffer CM, Bastarache LA, Denny JC, Roden DM, Palmer C, Deloukas P, Lin DY, Tang ZZ, Erdmann J, Schunkert H, Danesh J, Marrugat J, Elosua R, Ardissino D, McPherson R, Watkins H, Reiner AP, Wilson JG, Altshuler D, Gibbs RA, Lander ES, Boerwinkle E, Gabriel S, Kathiresan S. Inactivating mutations in NPC1L1 and protection from coronary heart disease. N Engl J Med. 2014;371:2072-82.
  14. Asselta R, Rimoldi V, Siri C, Cilia R, Guella I, Tesei S, Soldà G, Pezzoli G, Duga S, Goldwurm S. Glucocerebrosidase mutations in primary parkinsonism. Parkinsonism Relat Disord. 2014;20:1215-20.
  15. Robusto M, Fang M, Asselta R, Castorina P, Previtali SC, Caccia S, Benzoni E, De Cristofaro R, Yu C, Cesarani A, Liu X, Li W, Primignani P, Ambrosetti U, Xu X, Duga S, Soldà G. Mutations in PRPS1 are a potentially overlooked genetic cause for X-linked hearing loss and may result in a continuum spectrum of phenotypes. Eur J Hum Genet. 2014, doi: 10.1038/ejhg.2014.168.
  16. Paraboschi EM, Rimoldi V, Soldà G, Tabaglio T, Dall’Osso C, Saba E, Vigliano M, Salviati A, Leone M, Benedetti MD, Fornasari D, Saarela J, De Jager P, Patsopoulos NA, D’alfonso S, Gemmati D, Duga S, Asselta R. Functional variations modulating PRKCA expression and alternative splicing predispose to multiple sclerosis. Hum Mol Genet. 2014;23:6746-61. doi: 10.1093/hmg/ddu392. PubMed PMID: 25080502.
  17. Biffi S, Cerbino R, Bomboi F, Paraboschi EM, Asselta R, Sciortino F, Bellini T. Phase behavior and critical activated dynamics of limited-valence DNA nanostars. Proc Natl Acad Sci U S A. 2013;110:15633-7. doi:10.1073/pnas.1304632110.
  18. Soldà G, Robusto M, Primignani P, Castorina P, Benzoni E, Cesarani A, Ambrosetti U, Asselta R, Duga S. A novel mutation within the MIR96 gene causes nonsyndromic inherited hearing loss in an Italian family by altering pre-miRNA processing. Hum Mol Genet. 2012;21:577-85. doi: 10.1093/hmg/ddr493. PubMed PMID: 22038834
  19. Mercer TR, Wilhelm D, Dinger ME, Soldà G, Korbie DJ, Glazov EA, Truong V, Schwenke M, Simons C, Matthaei KI, Saint R, Koopman P, Mattick JS. Expression of distinct RNAs from 3′ untranslated regions. Nucleic Acids Res. 2011;39:2393-403. doi: 10.1093/nar/gkq1158.
  20. Asselta R, Rimoldi V, Guella I, Soldà G, De Cristofaro R, Peyvandi F, Duga S. Molecular characterization of in-frame and out-of-frame alternative splicings in coagulation factor XI pre-mRNA. Blood. 2010;115:2065-72. doi:10.1182/blood-2009-09-245092. PubMed PMID: 20042724.
  21. Asselta R, Duga S, Spena S, Peyvandi F, Castaman G, Malcovati M, Mannucci PM, Tenchini ML. Missense or splicing mutation? The case of a fibrinogen Bbeta-chain mutation causing severe hypofibrinogenemia. Blood. 2004;103:3051-4. PubMed PMID: 15070683.
  22. Montefusco MC, Duga S, Asselta R, Malcovati M, Peyvandi F, Santagostino E, Mannucci PM, Tenchini ML. Clinical and molecular characterization of 6 patients affected by severe deficiency of coagulation factor V: Broadening of the mutational spectrum of factor V gene and in vitro analysis of the newly identified missense mutations. Blood. 2003;102:3210-6. PubMed PMID: 12816860
  23. Duga S, Montefusco MC, Asselta R, Malcovati M, Peyvandi F, Santagostino E, Mannucci PM, Tenchini ML. Arg2074Cys missense mutation in the C2 domain of factor V causing moderately severe factor V deficiency: molecular characterization by expression of the recombinant protein. Blood. 2003;101:173-7. PubMed PMID: 12393490.
  24. Spena S, Duga S, Asselta R, Malcovati M, Peyvandi F, Tenchini ML. Congenital afibrinogenemia: first identification of splicing mutations in the fibrinogen Bbeta-chain gene causing activation of cryptic splice sites. Blood. 2002;100:4478-84. PubMed PMID: 12393540.
  25. Asselta R, Duga S, Spena S, Santagostino E, Peyvandi F, Piseddu G, Targhetta R, Malcovati M, Mannucci PM, Tenchini ML. Congenital afibrinogenemia: mutations leading to premature termination codons in fibrinogen A alpha-chain gene are not associated with the decay of the mutant mRNAs. Blood. 2001;98:3685-92. PubMed PMID: 11739173.
  26. Asselta R, Duga S, Simonic T, Malcovati M, Santagostino E, Giangrande PLF, Mannucci PM, Tenchini ML. Afibrinogenemia: first identification of a splicing mutation in the fibrinogen gamma chain gene leading to a major gamma chain truncation. Blood. 2000;96:2496-500. PubMed PMID: 11001902
  27. Duga S, Asselta R, Santagostino E, Zeinali S, Simonic T, Malcovati M, Mannucci PM, Tenchini ML. Missense mutations in the human beta fibrinogen gene cause congenital afibrinogenemia by impairing fibrinogen secretion. Blood. 2000;95:1336-41. PubMed PMID: 10666208.