Academic publications, non-academic publications, and unacademic publications.
Voight BF, Peloso GM, Orho-Melander M, Frikke-Schmidt R, Barbalic M, Jensen MK et al. (2012) Plasma HDL cholesterol and risk of myocardial infarction: a mendelian randomisation study. Lancet 380 (9841):572-80. DOI: 10.1016/S0140-6736(12)60312-2 PMID: 22607825
Download the PDF - 2012-05-16 Lancet - Plasma HDL cholesterol and risk of myocardial infarction - a mendelian randomisation study.pdf
Download the PDF - 2012-05-16 Lancet - Plasma HDL cholesterol and risk of myocardial infarction - a mendelian randomisation study SUPPLEMENT.pdf
Extract: "Some genetic mechanisms that raise plasma HDL cholesterol do not seem to lower risk of myocardial infarction. These data challenge the concept that raising of plasma HDL cholesterol will uniformly translate into reductions in risk of myocardial infarction."
Dastani Z, Hivert MF, Timpson N, Perry JR, Yuan X, Scott RA et al. (2012) Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals. PLoS Genet 8 (3):e1002607. DOI: 10.1371/journal.pgen.1002607 PMID: 22479202
Extract: " This risk score was associated with increased risk of T2D (p = 4.3×10(-3), n = 22,044), increased triglycerides (p = 2.6×10(-14), n = 93,440), increased waist-to-hip ratio (p = 1.8×10(-5), n = 77,167), increased glucose two hours post oral glucose tolerance testing (p = 4.4×10(-3), n = 15,234), increased fasting insulin (p = 0.015, n = 48,238), but with lower in HDL-cholesterol concentrations (p = 4.5×10(-13), n = 96,748) and decreased BMI (p = 1.4×10(-4), n = 121,335). These findings identify novel genetic determinants of adiponectin levels, which, taken together, influence risk of T2D and markers of insulin resistance."
Motazacker MM, Pirruccello J, Huijgen R, Do R, Gabriel S, Peter J et al. (2012) Advances in genetics show the need for extending screening strategies for autosomal dominant hypercholesterolaemia. Eur Heart J 33 (11):1360-6. DOI: 10.1093/eurheartj/ehs010 PMID: 22408029
Download the PDF - 2012-03-08 Eur Heart J Motazacker et al -Advances in genetics show the need for extending screening....pdf
Download the PDF - 2012-03-08 Eur Heart J Motazacker et al -Advances in genetics show the need for extending screening… SUPPLEMENT.docx
Extract: " Conclusion This study shows that advances in genetics help increasing our understanding of the causes of ADH. We identified two novel functional APOB mutations located outside the routinely analysed APOB region, suggesting that screening for mutations causing ADH should encompass the entire APOB coding sequence involved in LDL binding to help identifying and treating patients at increased cardiovascular risk."
Musunuru K, Pirruccello JP, Do R, Peloso GM, Guiducci C, Sougnez C et al. (2010) Exome sequencing, ANGPTL3 mutations, and familial combined hypolipidemia. N Engl J Med 363 (23):2220-7. DOI: 10.1056/NEJMoa1002926 PMID: 20942659
Download the PDF - 2010-10-13 New England Journal of Medicine - Musunuru, Pirruccello, Do, et al - Exome Sequencing, ANGPTL3 Mutations, and Familial Combined Hypolipidemia.pdf
Download the PDF - 2010-10-13 New England Journal of Medicine - Musunuru, Pirruccello, Do, et al - Exome Sequencing, ANGPTL3 Mutations, and Familial Combined Hypolipidemia SUPPLEMENT.pdf
Extract: " Our finding of ANGPTL3 mutations highlights a role for the gene in LDL cholesterol metabolism in humans and shows the usefulness of exome sequencing for identification of novel genetic causes of inherited disorders. (Funded by the National Human Genome Research Institute and others.)."
Musunuru K, Strong A, Frank-Kamenetsky M, Lee NE, Ahfeldt T, Sachs KV et al. (2010) From noncoding variant to phenotype via SORT1 at the 1p13 cholesterol locus. Nature 466 (7307):714-9. DOI: 10.1038/nature09266 PMID: 20686566
Download the PDF - 2010-08-05 Nature - Musunuru et al - From noncoding variant to phenotype via SORT1 at the 1p13 cholesterol locus.pdf
Download the PDF - 2010-08-05 Nature - Musunuru et al - SUPPLEMENT From noncoding variant to phenotype via SORT1 at the 1p13 cholesterol locus.pdf
Extract: " Thus, we provide functional evidence for a novel regulatory pathway for lipoprotein metabolism and suggest that modulation of this pathway may alter risk for MI in humans. We also demonstrate that common noncoding DNA variants identified by GWASs can directly contribute to clinical phenotypes."
Teslovich TM, Musunuru K, Smith AV, Edmondson AC, Stylianou IM, Koseki M et al. (2010) Biological, clinical and population relevance of 95 loci for blood lipids. Nature 466 (7307):707-13. DOI: 10.1038/nature09270 PMID: 20686565
Download the PDF - 2010-08-05 Nature - Teslovich et al - Biological, clinical and population relevance of 95 loci for blood lipids.pdf
Download the PDF - 2010-08-05 Nature - Teslovich et al - SUPPLEMENT Biological, clinical and population relevance of 95 loci for blood lipids.pdf
Extract: " Our results identify several novel loci associated with plasma lipids that are also associated with CAD. Taken together, our findings provide the foundation to develop a broader biological understanding of lipoprotein metabolism and to identify new therapeutic opportunities for the prevention of CAD."
Musunuru K, Lettre G, Young T, Farlow DN, Pirruccello JP, Ejebe KG et al. (2010) Candidate gene association resource (CARe): design, methods, and proof of concept. Circ Cardiovasc Genet 3 (3):267-75. DOI: 10.1161/CIRCGENETICS.109.882696 PMID: 20400780
Download the PDF - 2010-04-17 Circ Cardiovasc Genet - Musunuru et al - Candidate Gene Association Resource CARe - Design, Methods, and Proof of Concept.pdf
Extract: "The CARe Pilot Study validates the operational framework for phenotype collection, SNP genotyping, and analytic pipeline of the CARe project and validates the planned candidate gene study of approximately 2000 biological candidate loci in all participants and genome-wide association study in approximately 8000 African American participants. CARe will serve as a valuable resource for the scientific community."
Pirruccello J, Kathiresan S (2010) Genetics of lipid disorders. Curr Opin Cardiol 25 (3):238-42. DOI: 10.1097/HCO.0b013e328338574d PMID: 20224388
Download the PDF - 2010-03-10 Current Opinion in Cardiology - Pirruccello and Kathiresan - Genetics of lipid disorders.pdf
Extract: "Deep sequencing of genome-wide association signals promises to expand the catalogue of variants responsible for serum lipid variation and, with a full catalogue of variants, we may develop a panel of polymorphisms with clinical utility. In parallel, functional exploration of the genome-wide association signals should expand our knowledge of lipoprotein metabolism and generate targets for pharmacologic intervention."
Arnaoutakis GJ, Pirrucello J, Brooke BS, Reifsnyder T (2010) Venous duplex scanning for suspected deep vein thrombosis: results before and after elimination of after-hours studies. Vasc Endovascular Surg 44 (5):329-33. DOI: 10.1177/1538574410365731 PMID: 20484080
Download the PDF - 2010-05-18 Vascular and Endovascular Surgery - Arnaoutakis, Pirruccello, Brooke, Reifsnyder - Venous Duplex Scanning for Suspected Deep Vein Thrombosis- Results Before and After Elimination of After-Hours Studies.pdf
Extract: "Elimination of around-the-clock VDU can render substantial savings to hospitals without adverse consequence in the management of acute DVT."
Gamma gap is a very brief article describing the Johns Hopkins-specific term "gamma gap". At least, I think it's Hopkins specific. If you hear this term in use elsewhere, I'd be curious to know.
© 2013 James Pirruccello