SELECTED PUBLICATIONS:
- Cohen J.C., Kiss R.S., Pertsemlidis A., Marcel Y.L., McPherson R., Hobbs H.H. (2004) Multiple rare alleles contribute to low plasma levels of HDL cholesterol. Science 305: 869-872.
- Browning J.D., Szczepaniak L.S., Dobbins R., Nuremberg P., Horton J.D., Cohen J.C., Grundy S.M., Hobbs H.H. (2004) Prevalence of hepatic steatosis in an urban population in the United States: impact of ethnicity. Hepatology 40: 1387-1395.
- Cohen J.C., Pertsemlidis A., Kotowski I.K., Graham R., Garcia C. K., Hobbs H.H. (2005) Low LDL cholesterol in individuals of African descent resulting from frequent nonsense mutations in PCSK9. Nat. Genet. 37: 161-165.
- Cohen J.C., Pertsemlidis A., Fahmi S., Esmail S., Vega G.L., Grundy S.M., Hobbs H.H. (2006) Multiple rare variants in NPC1L1 associated with reduced sterol absorption and plasma low-density lipoprotein levels. Proc. Natl. Acad. Sci. USA 103: 1810-1815.
- Cohen J.C., Boerwinkle E., Mosley T.H., Hobbs H.H. (2006) Sequence variations in PCSK9, low LDL, and protection against coronary heart disease. N. Engl. J. Med. 354: 1264-72.
- Romeo S., Pennacchio L.A., Fu Y., Boerwinkle E., Tybjaerg-Hansen A., Hobbs H.H., Cohen, J.C. (2007) Population-based
resequencing of ANGPTL4 uncovers variations that reduce triglycerides and increase HDL. Nat. Genet. 39: 513-516.
- Zhang D.W., Lagace T.A., Garuti R., Zhao Z., McDonald M., Horton J.D., Cohen J.C. and Hobbs H.H. (2007) Binding of proprotein convertase subtilisin/kexin type 9 to epidermal growth factor-like repeat A of low density lipoprotein receptor decreases receptor recycling and increases degradation. J. Biol. Chem. 282: 18602-12.
- McPherson R., Pertsemlidis A., Kavaslar N., Stewart A., Roberts R., Cox D.R., Hinds D.A., Pennacchio L.A., Tybjaerg-Hansen A., Folsom A.R., Boerwinkle E., Hobbs H.H., Cohen J.C. (2007) A common allele on chromosome 9 associated with coronary heart disease. Science 316: 1488-91. PMCID: PMC271874
- Romeo S., Kozlitina J., Xing C., Pertsemlidis A., Cox D., Pennacchio L.A., Boerwinkle E., Cohen J.C., Hobbs, H.H. (2008). Genetic variation in PNPLA3 confers susceptibility to nonalcoholic fatty liver disease. Nat. Genet. 40: 1461-5. PMCID: PMC2597056
- Romeo S., Yin W., Kozlitina J., Pennacchio L.A., Boerwinkle E., Hobbs H.H., Cohen J.C. (2009) Rare loss-of-function mutations in ANGPTL family members contribute to plasma triglyceride levels in humans. J. Clin. Invest. 119:70-79. PMCID:PMC2613476
- Huang Y., He S., Li J.Z., Seo Y-K, Osborne T.F., Cohen J.C., Hobbs H.H. (2010) A feed-forward loop amplifies nutritional regulation of PNPLA3. Proc. Natl. Acad. Sci. USA. 107:7892-7. PMCID: PMC2867902
- Rios J., Stein E., Shendure J., Hobbs H. H., Cohen J.C. (2010) Identification by whole genome resequencing of gene defect responsible for severe hypercholesterolemia. Hum. Mol. Genet., In Press. PMID: PMC Journal - In Process
|
