-
1
-
-
58549109632
-
Plasma lipoproteins: Genetic influences and clinical implications
-
Hegele RA. Plasma lipoproteins: genetic influences and clinical implications. Nat Rev Genet 2009; 10:109-121.
-
(2009)
Nat Rev Genet
, vol.10
, pp. 109-121
-
-
Hegele, R.A.1
-
2
-
-
0037541585
-
A review on the diagnosis, natural history, and treatment of familial hypercholesterolaemia
-
Marks D, Thorogood M, Neil HA, Humphries SE. A review on the diagnosis, natural history, and treatment of familial hypercholesterolaemia. Atherosclerosis 2003; 168:1-14.
-
(2003)
Atherosclerosis
, vol.168
, pp. 1-14
-
-
Marks, D.1
Thorogood, M.2
Neil, H.A.3
Humphries, S.E.4
-
4
-
-
84906937463
-
The polygenic nature of hypertriglyceridaemia: Implications for definition, diagnosis, and management
-
Hegele RA, Ginsberg HN, Chapman MJ, et al. The polygenic nature of hypertriglyceridaemia: implications for definition, diagnosis, and management. Lancet Diabetes Endocrinol 2014; 2:655-666.
-
(2014)
Lancet Diabetes Endocrinol
, vol.2
, pp. 655-666
-
-
Hegele, R.A.1
Ginsberg, H.N.2
Chapman, M.J.3
-
5
-
-
84901734759
-
Exome sequencing: New insights into lipoprotein disorders
-
Farhan SM, Hegele RA. Exome sequencing: new insights into lipoprotein disorders. Curr Cardiol Rep 2014; 16:507.
-
(2014)
Curr Cardiol Rep
, vol.16
, pp. 507
-
-
Farhan, S.M.1
Hegele, R.A.2
-
6
-
-
84881022200
-
Western database of lipid variants (WDLV): A catalogue of genetic variants in monogenic dyslipidemias
-
Fu J, Kwok S, Sinai L, et al. Western database of lipid variants (WDLV): a catalogue of genetic variants in monogenic dyslipidemias. Can J Cardiol 2013; 29:934-939.
-
(2013)
Can J Cardiol
, vol.29
, pp. 934-939
-
-
Fu, J.1
Kwok, S.2
Sinai, L.3
-
7
-
-
38849198546
-
Monogenic pediatric dyslipidemias: Classification, genetics and clinical spectrum
-
Rahalkar AR, Hegele RA. Monogenic pediatric dyslipidemias: classification, genetics and clinical spectrum. Mol Genet Metab 2008; 93:282-294.
-
(2008)
Mol Genet Metab
, vol.93
, pp. 282-294
-
-
Rahalkar, A.R.1
Hegele, R.A.2
-
8
-
-
84897417989
-
LipidSeq: A next-generation clinical resequencing panel for monogenic dyslipidemias
-
Johansen CT, Dube JB, Loyzer MN, et al. LipidSeq: A next-generation clinical resequencing panel for monogenic dyslipidemias. J Lipid Res 2014; 55:765-772.
-
(2014)
J Lipid Res
, vol.55
, pp. 765-772
-
-
Johansen, C.T.1
Dube, J.B.2
Loyzer, M.N.3
-
9
-
-
79551505365
-
Massively parallel sequencing and rare disease
-
Ng SB, Nickerson DA, Bamshad MJ, et al. Massively parallel sequencing and rare disease. Hum Mol Genet 2010; 19:R119-R124.
-
(2010)
Hum Mol Genet
, vol.19
, pp. R119-R124
-
-
Ng, S.B.1
Nickerson, D.A.2
Bamshad, M.J.3
-
10
-
-
84948984313
-
Automation of molecular-based analyses: A primer on massively parallel sequencing
-
Nguyen L, Burnett L. Automation of molecular-based analyses: a primer on massively parallel sequencing. Clin Biochem Rev 2014; 35:169-176.
-
(2014)
Clin Biochem Rev
, vol.35
, pp. 169-176
-
-
Nguyen, L.1
Burnett, L.2
-
11
-
-
84893252645
-
The promise of whole-Exome sequencing in medical genetics
-
Rabbani B, Tekin M, Mahdieh N. The promise of whole-Exome sequencing in medical genetics. J Hum Genet 2014; 59:5-1510.
-
(2014)
J Hum Genet
, vol.59
, pp. 5-1510
-
-
Rabbani, B.1
Tekin, M.2
Mahdieh, N.3
-
12
-
-
84884826911
-
The next-generation sequencing revolution and its impact on genomics
-
Koboldt DC, Steinberg KM, Larson DE, et al. The next-generation sequencing revolution and its impact on genomics. Cell 2013; 155:27-38.
-
(2013)
Cell
, vol.155
, pp. 27-38
-
-
Koboldt, D.C.1
Steinberg, K.M.2
Larson, D.E.3
-
13
-
-
84890417231
-
First FDA authorization for next-generation sequencer
-
Collins FS, Hamburg MA. First FDA authorization for next-generation sequencer. N Engl J Med 2013; 369:2369-2371.
-
(2013)
N Engl J Med
, vol.369
, pp. 2369-2371
-
-
Collins, F.S.1
Hamburg, M.A.2
-
14
-
-
84884416457
-
Rare-Disease genetics in the era of next-generation sequencing: Discovery to translation
-
Boycott KM, Vanstone MR, Bulman DE, et al. Rare-Disease genetics in the era of next-generation sequencing: discovery to translation. Nat Rev Genet 2013; 14:681-691.
-
(2013)
Nat Rev Genet
, vol.14
, pp. 681-691
-
-
Boycott, K.M.1
Vanstone, M.R.2
Bulman, D.E.3
-
15
-
-
77958469483
-
Identification by whole-genome resequencing of gene defect responsible for severe hypercholesterolemia
-
Rios J, Stein E, Shendure J, et al. Identification by whole-genome resequencing of gene defect responsible for severe hypercholesterolemia. Hum Mol Genet 2010; 19:4313-4318.
-
(2010)
Hum Mol Genet
, vol.19
, pp. 4313-4318
-
-
Rios, J.1
Stein, E.2
Shendure, J.3
-
16
-
-
78649755576
-
Exome sequencing, angptl3 mutations, and familial combined hypolipidemia
-
Musunuru K, Pirruccello JP, Do R, et al. Exome sequencing, angptl3 mutations, and familial combined hypolipidemia. N Engl J Med 2010; 363:2220-2227.
-
(2010)
N Engl J Med
, vol.363
, pp. 2220-2227
-
-
Musunuru, K.1
Pirruccello, J.P.2
Do, R.3
-
17
-
-
84868612596
-
Exome sequencing identifies 2 rare variants for low high-Density lipoprotein cholesterol in an extended family
-
Reddy MV, Iatan I, Weissglas-Volkov D, et al. Exome sequencing identifies 2 rare variants for low high-Density lipoprotein cholesterol in an extended family. Circ Cardiovasc Genet 2012; 5:538-546.
-
(2012)
Circ Cardiovasc Genet
, vol.5
, pp. 538-546
-
-
Reddy, M.V.1
Iatan, I.2
Weissglas-Volkov, D.3
-
18
-
-
84871609958
-
Description of a large family with autosomal dominant hypercholesterolemia associated with the ApoE p.Leu167del mutation
-
Marduel M, Ouguerram K, Serre V, et al. Description of a large family with autosomal dominant hypercholesterolemia associated with the ApoE p.Leu167del mutation. Hum Mutat 2013; 34:83-87.
-
(2013)
Hum Mutat
, vol.34
, pp. 83-87
-
-
Marduel, M.1
Ouguerram, K.2
Serre, V.3
-
19
-
-
84888110440
-
ApoE p.Leu167del mutation in familial hypercholesterolemia
-
Awan Z, Choi HY, Stitziel N, et al. ApoE p.Leu167del mutation in familial hypercholesterolemia. Atherosclerosis 2013; 231:218-222.
-
(2013)
Atherosclerosis
, vol.231
, pp. 218-222
-
-
Awan, Z.1
Choi, H.Y.2
Stitziel, N.3
-
20
-
-
84881025772
-
A novel apoB mutation identified by exome sequencing cosegregates with steatosis, liver cancer, and hypocholesterolemia
-
Cefalu AB, Pirruccello JP, Noto D, et al. A novel apoB mutation identified by exome sequencing cosegregates with steatosis, liver cancer, and hypocholesterolemia. Arterioscler Thromb Vasc Biol 2013; 33:2021-2025.
-
(2013)
Arterioscler Thromb Vasc Biol
, vol.33
, pp. 2021-2025
-
-
Cefalu, A.B.1
Pirruccello, J.P.2
Noto, D.3
-
21
-
-
84888201938
-
Exome sequencing and directed clinical phenotyping diagnose cholesterol ester storage disease presenting as autosomal recessive hypercholesterolemia
-
Stitziel NO, Fouchier SW, Sjouke B, et al. Exome sequencing and directed clinical phenotyping diagnose cholesterol ester storage disease presenting as autosomal recessive hypercholesterolemia. Arterioscler Thromb Vasc Biol 2013; 33:2909-2914.
-
(2013)
Arterioscler Thromb Vasc Biol
, vol.33
, pp. 2909-2914
-
-
Stitziel, N.O.1
Fouchier, S.W.2
Sjouke, B.3
-
23
-
-
84907140876
-
Mutations in STAP1 are associated with autosomal dominant hypercholesterolemia
-
Fouchier SW, Dallinga-Thie GM, Meijers JC, et al. Mutations in STAP1 are associated with autosomal dominant hypercholesterolemia. Circ Res 2014; 115:552-555.
-
(2014)
Circ Res
, vol.115
, pp. 552-555
-
-
Fouchier, S.W.1
Dallinga-Thie, G.M.2
Meijers, J.C.3
-
24
-
-
84907051794
-
Whole-Exome sequencing in an extended family with myocardial infarction unmasks familial hypercholesterolemia
-
Brænne I, Reiz B, Medack A, et al. Whole-Exome sequencing in an extended family with myocardial infarction unmasks familial hypercholesterolemia. BMC Cardiovasc Disord 2014; 14:108.
-
(2014)
BMC Cardiovasc Disord
, vol.14
, pp. 108
-
-
Brænne, I.1
Reiz, B.2
Medack, A.3
-
25
-
-
84960161880
-
A rare variant association study with exome sequencing in >9700 early-onset myocardial infarction cases and controls
-
in press)
-
Do R, Stitziel NO, Won HH, et al. A rare variant association study with exome sequencing in >9700 early-onset myocardial infarction cases and controls. Nature 2015. (in press).
-
(2015)
Nature
-
-
Do, R.1
Stitziel, N.O.2
Won, H.H.3
-
26
-
-
84890461947
-
Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: Guidance for clinicians to prevent coronary heart disease: Consensus statement of the European Atherosclerosis Society
-
Nordestgaard BG, Chapman MJ, Humphries SE, et al. Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease: consensus statement of the European Atherosclerosis Society. Eur Heart J 2013; 34:3478-3490.
-
(2013)
Eur Heart J
, vol.34
, pp. 3478-3490
-
-
Nordestgaard, B.G.1
Chapman, M.J.2
Humphries, S.E.3
-
27
-
-
84906716305
-
Homozygous familial hypercholesterolaemia: New insights and guidance for clinicians to improve detection and clinical management
-
Cuchel M, Bruckert E, Ginsberg HN, et al. Homozygous familial hypercholesterolaemia: new insights and guidance for clinicians to improve detection and clinical management. Eur Heart J 2014; 35:2146-2157.
-
(2014)
Eur Heart J
, vol.35
, pp. 2146-2157
-
-
Cuchel, M.1
Bruckert, E.2
Ginsberg, H.N.3
-
28
-
-
17044427538
-
The relationship of molecular genetic to clinical diagnosis of familial hypercholesterolemia in a Danish population
-
Damgaard D, Larsen ML, Nissen PH, et al. The relationship of molecular genetic to clinical diagnosis of familial hypercholesterolemia in a Danish population. Atherosclerosis 2005; 180:155-160.
-
(2005)
Atherosclerosis
, vol.180
, pp. 155-160
-
-
Damgaard, D.1
Larsen, M.L.2
Nissen, P.H.3
-
29
-
-
33749134423
-
Comparison of DNA array platform vs DNA sequencing as genetic diagnosis tools for familial hypercholesterolemia
-
Tejedor D, Castillo S, Mozas P, et al. Comparison of DNA array platform vs DNA sequencing as genetic diagnosis tools for familial hypercholesterolemia. Clin Chem 2006; 52:1971-1972.
-
(2006)
Clin Chem
, vol.52
, pp. 1971-1972
-
-
Tejedor, D.1
Castillo, S.2
Mozas, P.3
-
30
-
-
73049111746
-
Mutation screening in patients for familial hypercholesterolaemia (ADH)
-
Taylor A, Patel K, Tsedeke J, et al. Mutation screening in patients for familial hypercholesterolaemia (ADH). Clin Genet 2010; 77:97-99.
-
(2010)
Clin Genet
, vol.77
, pp. 97-99
-
-
Taylor, A.1
Patel, K.2
Tsedeke, J.3
-
31
-
-
53949117940
-
Multiplex Mass ARRAY spectrometry (iPLEX) produces a fast and economical test for 56 familial hypercholesterolaemia-causing mutations
-
Wright WT, Heggarty SV, Young IS, et al. Multiplex Mass ARRAY spectrometry (iPLEX) produces a fast and economical test for 56 familial hypercholesterolaemia-causing mutations. Clin Genet 2008; 74:463-468.
-
(2008)
Clin Genet
, vol.74
, pp. 463-468
-
-
Wright, W.T.1
Heggarty, S.V.2
Young, I.S.3
-
32
-
-
84870257531
-
Use of targeted exome sequencing as a diagnostic tool for familial hypercholesterolaemia
-
Futema M, Plagnol V, Whittall RA, et al. Use of targeted exome sequencing as a diagnostic tool for familial hypercholesterolaemia. J Med Genet 2012; 49:644-649.
-
(2012)
J Med Genet
, vol.49
, pp. 644-649
-
-
Futema, M.1
Plagnol, V.2
Whittall, R.A.3
-
33
-
-
84914150662
-
Genetic diagnosis of familial hypercholesterolaemia by targeted next-generation sequencing
-
Maglio C, Mancina RM, Motta BM, et al. Genetic diagnosis of familial hypercholesterolaemia by targeted next-generation sequencing. J Intern Med 2014; 276:396-403.
-
(2014)
J Intern Med
, vol.276
, pp. 396-403
-
-
Maglio, C.1
Mancina, R.M.2
Motta, B.M.3
-
34
-
-
84902716375
-
Targeted genetic testing for familial hypercholesterolaemia using next generation sequencing: A population-based study
-
Norsworthy PJ, Vandrovcova J, Thomas ER, et al. Targeted genetic testing for familial hypercholesterolaemia using next generation sequencing: a population-based study. BMC Med Genet 2014; 15:70.
-
(2014)
BMC Med Genet
, vol.15
, pp. 70
-
-
Norsworthy, P.J.1
Vandrovcova, J.2
Thomas, E.R.3
-
35
-
-
13944252816
-
Multiplex ligation-Dependent probe amplification of LDLR enhances molecular diagnosis of familial hypercholesterolemia
-
Wang J, Ban MR, Hegele RA. Multiplex ligation-Dependent probe amplification of LDLR enhances molecular diagnosis of familial hypercholesterolemia. J Lipid Res 2005; 46:366-372.
-
(2005)
J Lipid Res
, vol.46
, pp. 366-372
-
-
Wang, J.1
Ban, M.R.2
Hegele, R.A.3
-
36
-
-
84884509092
-
Detection of variations and identifying genomic breakpoints for large deletions in the LDLR by Ion Torrent semiconductor sequencing
-
Faiz F, Allcock RJ, Hooper AJ, van Bockxmeer FM. Detection of variations and identifying genomic breakpoints for large deletions in the LDLR by Ion Torrent semiconductor sequencing. Atherosclerosis 2013; 230:249-255.
-
(2013)
Atherosclerosis
, vol.230
, pp. 249-255
-
-
Faiz, F.1
Allcock, R.J.2
Hooper, A.J.3
Van Bockxmeer, F.M.4
-
37
-
-
84876167878
-
Use of low-Density lipoprotein cholesterol gene score to distinguish patients with polygenic and monogenic familial hypercholesterolaemia: A case-control study
-
Talmud PJ, Shah S, Whittall R, et al. Use of low-Density lipoprotein cholesterol gene score to distinguish patients with polygenic and monogenic familial hypercholesterolaemia: a case-control study. Lancet 2013; 381:1293-1301.
-
(2013)
Lancet
, vol.381
, pp. 1293-1301
-
-
Talmud, P.J.1
Shah, S.2
Whittall, R.3
-
38
-
-
84905437783
-
Whole exome sequencing of familial hypercholesterolaemia patients negative for LDLR/APOB/PCSK9 mutations
-
Futema M, Plagnol V, Li K, et al. Whole exome sequencing of familial hypercholesterolaemia patients negative for LDLR/APOB/PCSK9 mutations. J Med Genet 2014; 51:537-544.
-
(2014)
J Med Genet
, vol.51
, pp. 537-544
-
-
Futema, M.1
Plagnol, V.2
Li, K.3
-
39
-
-
80052579636
-
Incidence of pancreatitis, secondary causes, and treatment of patients referred to a specialty lipid clinic with severe hypertriglyceridemia: A retrospective cohort study
-
Sandhu S, Al-Sarraf A, Taraboanta C, et al. Incidence of pancreatitis, secondary causes, and treatment of patients referred to a specialty lipid clinic with severe hypertriglyceridemia: a retrospective cohort study. Lipids Health Dis 2011; 10:157.
-
(2011)
Lipids Health Dis
, vol.10
, pp. 157
-
-
Sandhu, S.1
Al-Sarraf, A.2
Taraboanta, C.3
-
40
-
-
65249109805
-
Novel LPL mutations associated with lipoprotein lipase deficiency: Two case reports and a literature review
-
Rahalkar AR, Giffen F, Har B, et al. Novel LPL mutations associated with lipoprotein lipase deficiency: two case reports and a literature review. Can J Physiol Pharmacol 2009; 87:151-160.
-
(2009)
Can J Physiol Pharmacol
, vol.87
, pp. 151-160
-
-
Rahalkar, A.R.1
Giffen, F.2
Har, B.3
-
41
-
-
0024383955
-
Detection and characterization of the heterozygote state for lipoprotein lipase deficiency
-
Babirak SP, Iverius PH, Fujimoto WY, Brunzell JD. Detection and characterization of the heterozygote state for lipoprotein lipase deficiency. Arteriosclerosis 1989; 9:326-334.
-
(1989)
Arteriosclerosis
, vol.9
, pp. 326-334
-
-
Babirak, S.P.1
Iverius, P.H.2
Fujimoto, W.Y.3
Brunzell, J.D.4
-
42
-
-
84915819121
-
Inactivating mutations in NPC1L1 and protection from Coronary Heart Disease
-
Myocardial Infarction Genetics Consortium Investigators.
-
Myocardial Infarction Genetics Consortium Investigators. Stitziel NO, Won HH, Morrison AC, et al. Inactivating mutations in NPC1L1 and protection from coronary heart disease. N Engl J Med 2014; 371:2072-2082.
-
(2014)
N Engl J Med
, vol.371
, pp. 2072-2082
-
-
Stitziel, N.O.1
Won, H.H.2
Morrison, A.C.3
-
43
-
-
77955505564
-
Biological, clinical and population relevance of 95 loci for blood lipids
-
Teslovich TM, Musunuru K, Smith AV, et al. Biological, clinical and population relevance of 95 loci for blood lipids. Nature 2010; 466:707-713.
-
(2010)
Nature
, vol.466
, pp. 707-713
-
-
Teslovich, T.M.1
Musunuru, K.2
Smith, A.V.3
-
44
-
-
84887099827
-
Discovery and refinement of loci associated with lipid levels
-
Global Lipids Genetics Consortium.
-
Global Lipids Genetics Consortium. Discovery and refinement of loci associated with lipid levels. Nat Genet 2013; 45:1274-1283.
-
(2013)
Nat Genet
, vol.45
, pp. 1274-1283
-
-
-
45
-
-
84920507510
-
Refinement of variant selection for the LDL cholesterol genetic risk score in the diagnosis of the polygenic form of clinical familial hypercholesterolemia and replication in samples from 6 countries
-
Futema M, Shah S, Cooper JA. Refinement of variant selection for the LDL cholesterol genetic risk score in the diagnosis of the polygenic form of clinical familial hypercholesterolemia and replication in samples from 6 countries. Clin Chem 2015; 61:231-238.
-
(2015)
Clin Chem
, vol.61
, pp. 231-238
-
-
Futema, M.1
Shah, S.2
Cooper, J.A.3
|