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Year Number of Results
1979 1
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1984 8
1985 9
1986 7
1987 6
1988 14
1989 7
1990 8
1991 13
1992 14
1993 10
1994 15
1995 21
1996 12
1997 24
1998 20
1999 18
2000 23
2001 30
2002 34
2003 34
2004 49
2005 35
2006 39
2007 37
2008 47
2009 34
2010 32
2011 30
2012 45
2013 40
2014 31
2015 42
2016 33
2017 31
2018 15
2019 14
2020 11
2021 11
2022 7
2023 7
2024 6

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824 results

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Page 1
The polygenic nature of hypertriglyceridaemia: implications for definition, diagnosis, and management.
Hegele RA, Ginsberg HN, Chapman MJ, Nordestgaard BG, Kuivenhoven JA, Averna M, Borén J, Bruckert E, Catapano AL, Descamps OS, Hovingh GK, Humphries SE, Kovanen PT, Masana L, Pajukanta P, Parhofer KG, Raal FJ, Ray KK, Santos RD, Stalenhoef AF, Stroes E, Taskinen MR, Tybjærg-Hansen A, Watts GF, Wiklund O; European Atherosclerosis Society Consensus Panel. Hegele RA, et al. Among authors: humphries se. Lancet Diabetes Endocrinol. 2014 Aug;2(8):655-66. doi: 10.1016/S2213-8587(13)70191-8. Epub 2013 Dec 23. Lancet Diabetes Endocrinol. 2014. PMID: 24731657 Free PMC article. Review.
The Clinical Genome Resource (ClinGen) Familial Hypercholesterolemia Variant Curation Expert Panel consensus guidelines for LDLR variant classification.
Chora JR, Iacocca MA, Tichý L, Wand H, Kurtz CL, Zimmermann H, Leon A, Williams M, Humphries SE, Hooper AJ, Trinder M, Brunham LR, Costa Pereira A, Jannes CE, Chen M, Chonis J, Wang J, Kim S, Johnston T, Soucek P, Kramarek M, Leigh SE, Carrié A, Sijbrands EJ, Hegele RA, Freiberger T, Knowles JW, Bourbon M; ClinGen Familial Hypercholesterolemia Expert Panel. Chora JR, et al. Among authors: humphries se. Genet Med. 2022 Feb;24(2):293-306. doi: 10.1016/j.gim.2021.09.012. Epub 2021 Nov 30. Genet Med. 2022. PMID: 34906454 Free article.
Defining severe familial hypercholesterolaemia and the implications for clinical management: a consensus statement from the International Atherosclerosis Society Severe Familial Hypercholesterolemia Panel.
Santos RD, Gidding SS, Hegele RA, Cuchel MA, Barter PJ, Watts GF, Baum SJ, Catapano AL, Chapman MJ, Defesche JC, Folco E, Freiberger T, Genest J, Hovingh GK, Harada-Shiba M, Humphries SE, Jackson AS, Mata P, Moriarty PM, Raal FJ, Al-Rasadi K, Ray KK, Reiner Z, Sijbrands EJ, Yamashita S; International Atherosclerosis Society Severe Familial Hypercholesterolemia Panel. Santos RD, et al. Among authors: humphries se. Lancet Diabetes Endocrinol. 2016 Oct;4(10):850-61. doi: 10.1016/S2213-8587(16)30041-9. Epub 2016 May 27. Lancet Diabetes Endocrinol. 2016. PMID: 27246162 Free article. Review.
Familial hypercholesterolaemia in children and adolescents: gaining decades of life by optimizing detection and treatment.
Wiegman A, Gidding SS, Watts GF, Chapman MJ, Ginsberg HN, Cuchel M, Ose L, Averna M, Boileau C, Borén J, Bruckert E, Catapano AL, Defesche JC, Descamps OS, Hegele RA, Hovingh GK, Humphries SE, Kovanen PT, Kuivenhoven JA, Masana L, Nordestgaard BG, Pajukanta P, Parhofer KG, Raal FJ, Ray KK, Santos RD, Stalenhoef AF, Steinhagen-Thiessen E, Stroes ES, Taskinen MR, Tybjærg-Hansen A, Wiklund O; European Atherosclerosis Society Consensus Panel. Wiegman A, et al. Among authors: humphries se. Eur Heart J. 2015 Sep 21;36(36):2425-37. doi: 10.1093/eurheartj/ehv157. Epub 2015 May 25. Eur Heart J. 2015. PMID: 26009596 Free PMC article. Review.
Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes.
Morris AP, Voight BF, Teslovich TM, Ferreira T, Segrè AV, Steinthorsdottir V, Strawbridge RJ, Khan H, Grallert H, Mahajan A, Prokopenko I, Kang HM, Dina C, Esko T, Fraser RM, Kanoni S, Kumar A, Lagou V, Langenberg C, Luan J, Lindgren CM, Müller-Nurasyid M, Pechlivanis S, Rayner NW, Scott LJ, Wiltshire S, Yengo L, Kinnunen L, Rossin EJ, Raychaudhuri S, Johnson AD, Dimas AS, Loos RJ, Vedantam S, Chen H, Florez JC, Fox C, Liu CT, Rybin D, Couper DJ, Kao WH, Li M, Cornelis MC, Kraft P, Sun Q, van Dam RM, Stringham HM, Chines PS, Fischer K, Fontanillas P, Holmen OL, Hunt SE, Jackson AU, Kong A, Lawrence R, Meyer J, Perry JR, Platou CG, Potter S, Rehnberg E, Robertson N, Sivapalaratnam S, Stančáková A, Stirrups K, Thorleifsson G, Tikkanen E, Wood AR, Almgren P, Atalay M, Benediktsson R, Bonnycastle LL, Burtt N, Carey J, Charpentier G, Crenshaw AT, Doney AS, Dorkhan M, Edkins S, Emilsson V, Eury E, Forsen T, Gertow K, Gigante B, Grant GB, Groves CJ, Guiducci C, Herder C, Hreidarsson AB, Hui J, James A, Jonsson A, Rathmann W, Klopp N, Kravic J, Krjutškov K, Langford C, Leander K, Lindholm E, Lobbens S, Männistö S, Mirza G, Mühleisen TW, Musk B, Parkin M, Rallidis L, Saramies J, Sennblad B… See abstract for full author list ➔ Morris AP, et al. Among authors: humphries se. Nat Genet. 2012 Sep;44(9):981-90. doi: 10.1038/ng.2383. Epub 2012 Aug 12. Nat Genet. 2012. PMID: 22885922 Free PMC article.
Homozygous familial hypercholesterolaemia: new insights and guidance for clinicians to improve detection and clinical management. A position paper from the Consensus Panel on Familial Hypercholesterolaemia of the European Atherosclerosis Society.
Cuchel M, Bruckert E, Ginsberg HN, Raal FJ, Santos RD, Hegele RA, Kuivenhoven JA, Nordestgaard BG, Descamps OS, Steinhagen-Thiessen E, Tybjærg-Hansen A, Watts GF, Averna M, Boileau C, Borén J, Catapano AL, Defesche JC, Hovingh GK, Humphries SE, Kovanen PT, Masana L, Pajukanta P, Parhofer KG, Ray KK, Stalenhoef AF, Stroes E, Taskinen MR, Wiegman A, Wiklund O, Chapman MJ; European Atherosclerosis Society Consensus Panel on Familial Hypercholesterolaemia. Cuchel M, et al. Among authors: humphries se. Eur Heart J. 2014 Aug 21;35(32):2146-57. doi: 10.1093/eurheartj/ehu274. Epub 2014 Jul 22. Eur Heart J. 2014. PMID: 25053660 Free PMC article.
An Expanded Genome-Wide Association Study of Type 2 Diabetes in Europeans.
Scott RA, Scott LJ, Mägi R, Marullo L, Gaulton KJ, Kaakinen M, Pervjakova N, Pers TH, Johnson AD, Eicher JD, Jackson AU, Ferreira T, Lee Y, Ma C, Steinthorsdottir V, Thorleifsson G, Qi L, Van Zuydam NR, Mahajan A, Chen H, Almgren P, Voight BF, Grallert H, Müller-Nurasyid M, Ried JS, Rayner NW, Robertson N, Karssen LC, van Leeuwen EM, Willems SM, Fuchsberger C, Kwan P, Teslovich TM, Chanda P, Li M, Lu Y, Dina C, Thuillier D, Yengo L, Jiang L, Sparso T, Kestler HA, Chheda H, Eisele L, Gustafsson S, Frånberg M, Strawbridge RJ, Benediktsson R, Hreidarsson AB, Kong A, Sigurðsson G, Kerrison ND, Luan J, Liang L, Meitinger T, Roden M, Thorand B, Esko T, Mihailov E, Fox C, Liu CT, Rybin D, Isomaa B, Lyssenko V, Tuomi T, Couper DJ, Pankow JS, Grarup N, Have CT, Jørgensen ME, Jørgensen T, Linneberg A, Cornelis MC, van Dam RM, Hunter DJ, Kraft P, Sun Q, Edkins S, Owen KR, Perry JRB, Wood AR, Zeggini E, Tajes-Fernandes J, Abecasis GR, Bonnycastle LL, Chines PS, Stringham HM, Koistinen HA, Kinnunen L, Sennblad B, Mühleisen TW, Nöthen MM, Pechlivanis S, Baldassarre D, Gertow K, Humphries SE, Tremoli E, Klopp N, Meyer J, Steinbach G, Wennauer R, Eriksson JG, Mӓnnistö S, Peltonen L, Tikkan… See abstract for full author list ➔ Scott RA, et al. Among authors: humphries se. Diabetes. 2017 Nov;66(11):2888-2902. doi: 10.2337/db16-1253. Epub 2017 May 31. Diabetes. 2017. PMID: 28566273 Free PMC article.
Mapping of 79 loci for 83 plasma protein biomarkers in cardiovascular disease.
Folkersen L, Fauman E, Sabater-Lleal M, Strawbridge RJ, Frånberg M, Sennblad B, Baldassarre D, Veglia F, Humphries SE, Rauramaa R, de Faire U, Smit AJ, Giral P, Kurl S, Mannarino E, Enroth S, Johansson Å, Enroth SB, Gustafsson S, Lind L, Lindgren C, Morris AP, Giedraitis V, Silveira A, Franco-Cereceda A, Tremoli E; IMPROVE study group; Gyllensten U, Ingelsson E, Brunak S, Eriksson P, Ziemek D, Hamsten A, Mälarstig A. Folkersen L, et al. Among authors: humphries se. PLoS Genet. 2017 Apr 3;13(4):e1006706. doi: 10.1371/journal.pgen.1006706. eCollection 2017 Apr. PLoS Genet. 2017. PMID: 28369058 Free PMC article.
The interleukin-6 receptor as a target for prevention of coronary heart disease: a mendelian randomisation analysis.
Interleukin-6 Receptor Mendelian Randomisation Analysis (IL6R MR) Consortium; Swerdlow DI, Holmes MV, Kuchenbaecker KB, Engmann JE, Shah T, Sofat R, Guo Y, Chung C, Peasey A, Pfister R, Mooijaart SP, Ireland HA, Leusink M, Langenberg C, Li KW, Palmen J, Howard P, Cooper JA, Drenos F, Hardy J, Nalls MA, Li YR, Lowe G, Stewart M, Bielinski SJ, Peto J, Timpson NJ, Gallacher J, Dunlop M, Houlston R, Tomlinson I, Tzoulaki I, Luan J, Boer JM, Forouhi NG, Onland-Moret NC, van der Schouw YT, Schnabel RB, Hubacek JA, Kubinova R, Baceviciene M, Tamosiunas A, Pajak A, Topor-Madry R, Malyutina S, Baldassarre D, Sennblad B, Tremoli E, de Faire U, Ferrucci L, Bandenelli S, Tanaka T, Meschia JF, Singleton A, Navis G, Mateo Leach I, Bakker SJ, Gansevoort RT, Ford I, Epstein SE, Burnett MS, Devaney JM, Jukema JW, Westendorp RG, Jan de Borst G, van der Graaf Y, de Jong PA, Mailand-van der Zee AH, Klungel OH, de Boer A, Doevendans PA, Stephens JW, Eaton CB, Robinson JG, Manson JE, Fowkes FG, Frayling TM, Price JF, Whincup PH, Morris RW, Lawlor DA, Smith GD, Ben-Shlomo Y, Redline S, Lange LA, Kumari M, Wareham NJ, Verschuren WM, Benjamin EJ, Whittaker JC, Hamsten A, Dudbridge F, Delaney JA, Wong A, K… See abstract for full author list ➔ Interleukin-6 Receptor Mendelian Randomisation Analysis (IL6R MR) Consortium, et al. Among authors: humphries se. Lancet. 2012 Mar 31;379(9822):1214-24. doi: 10.1016/S0140-6736(12)60110-X. Epub 2012 Mar 14. Lancet. 2012. PMID: 22421340 Free PMC article.
824 results