1. Cluster analysis of patterns generated from a web repository of HEPG2 transcriptomes. Genes of unknown functions coregulated in concert with cholesterol synthesis pathway. (August 2018) Authors: Altieri, G.I.; Noto, D.; Cefalu', A.B.; Giammanco, A.; Fayer, F.; Ingrassia, V.; Scrimali, C.; Spina, R.; Valenti, V.; Misiano, G.; Brucato, F.; Ganci, A.; Barbagallo, C.M.; Averna, M.R. Journal: Atherosclerosis Issue: Volume 275(2018) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Detection of copy number variations (CNVS) in LDLR gene by next generation sequencing in patients with familial hypercholesterolemia. (August 2018) Authors: Scrimali, C.; Spina, R.; Ingrassia, V.; Cefalu', A.B.; Valenti, V.; Altieri, G.I.; Noto, D.; Brucato, F.; Misiano, G.; Giammanco, A.; Barbagallo, C.M.; Ganci, A.; Fayer, F.; Averna, M.R. Journal: Atherosclerosis Issue: Volume 275(2018) Page Start: e154 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Familial hypobetalipoproteinemia: Analysis by next generation sequencing and identification of novel mutations in the APOB gene. (August 2018) Authors: Ingrassia, V.; Spina, R.; Cefalù, A.B.; Valenti, V.; Altieri, G.I.; Scrimali, C.; Noto, D.; Brucato, F.; Misiano, G.; Giammanco, A.; Ganci, A.; Fayer, F.; Barbagallo, C.M.; Averna, M.R. Journal: Atherosclerosis Issue: Volume 275(2018) Page Start: e154 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Genetic epidemiology of ARH in Sicily. (September 2016) Authors: Spina, R.; Valenti, V.; Ingrassia, V.; La Spada, M.P.; Scrimali, C.; Misiano, G.; Noto, D.; Palesano, O.; Altieri, G.I.; Licata, V.; Fayer, F.; Barbagallo, C.M.; Cefalù, A.B.; Averna, M. Journal: Atherosclerosis Issue: Volume 252(2016) Page Start: e37 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Identification Of P.Leu167Del Apoe Gene Mutation By Next Generation Sequencing In A Large Hypercholesterolemic Family. (August 2019) Authors: Scrimali, C.; Spina, R.; Ingrassia, V.; Cefalù, A.B.; Brucato, F.; Misiano, G.; Valenti, V.; Noto, D.; Altieri, G.I.; Fayer, F.; Giammanco, A.; Barbagallo, C.; Averna, M. Journal: Atherosclerosis Issue: Volume 287(2019) Page Start: e213 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Molecular characterization of patients with and without coronary artery disease with "extreme LDL-C phenotypes". (December 2020) Authors: Brucato, F.; Martinelli, N.; Spina, R.; Busti, F.; Ingrassia, V.; Scrimali, C.; Altieri, G.I.; Noto, D.; Misiano, G.; Giammanco, A.; Barbagallo, C.M.; Fayer, F.; Cefalù, A.B.; Olivieri, O.; Girelli, D.; Averna, M. Journal: Atherosclerosis Issue: Volume 315(2020) Page Start: e222 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Mutation in candidate genes account for a small minority of hypobetalipoproteinemias and NGS analysis support polygenicity in mutation-negative patients. (December 2020) Authors: Giammanco, A.; Scrimali, C.; Spina, R.; Ingrassia, V.; Brucato, F.; Valenti, V.; Cefalù, A.B.; Misiano, G.; Altieri, G.I.; Noto, D.; Barbagallo, C.M.; Ganci, A.; Fayer, F.; Averna, M. Journal: Atherosclerosis Issue: Volume 315(2020) Page Start: e45 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Next generation sequencing in severe hypertrigliceridemia: Identification of a novel nonsense mutation of CREB3L3 gene. (August 2022) Authors: Brucato, F.; Scicali, R.; Scrimali, C.; Gueli Alletti, M.; Spina, R.; Ingrassia, V.; Altieri, G.I.; Noto, D.; Misiano, G.; Giammanco, A.; Barbagallo, C.M.; Ganci, A.; Cefalù, A.B.; Purrello, F.; Averna, M. Journal: Atherosclerosis Issue: Volume 355(2022) Page Start: 6 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. PCSK9-D374Y mediated LDL-R degradation can be functionally inhibited by EGF-A and truncated EGF-A peptides. An in vitro study. (December 2020) Authors: Scrimali, C.; Spina, R.; Ingrassia, V.; Brucato, F.; Altieri, G.I.; Noto, D.; Valenti, V.; Misiano, G.; Giammanco, A.; Fayer, F.; Barbagallo, C.M.; Ganci, A.; Cefalù, A.B.; Averna, M. Journal: Atherosclerosis Issue: Volume 315(2020) Page Start: e258 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Post prandial metabolism of lipoproteins in familial chylomicronemia patients treated with lomitapide and tiparvovec. (August 2022) Authors: Alletti, M. Gueli; Brucato, F.; Scrimali, C.; Spina, R.; Ingrassia, V.; Altieri, G.I.; Fayer, F.; Noto, D.; Misiano, G.; Giammanco, A.; Barbagallo, C.M.; Ganci, A.; Cefalù, A.B.; Zambon, A.; Averna, M. Journal: Atherosclerosis Issue: Volume 355(2022) Page Start: 4 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗