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1. Full Text Association Between Low-Density Lipoprotein Cholesterol–Lowering Genetic Variants and Risk of Type 2 Diabetes: A Meta-analysis
by Lotta, Luca A and Sharp, Stephen J and Burgess, Stephen and Perry, John R. B and Stewart, Isobel D and Willems, Sara M and Luan, Jian’an and Ardanaz, Eva and Arriola, Larraitz and Balkau, Beverley and Boeing, Heiner and Deloukas, Panos and Forouhi, Nita G and Franks, Paul W and Grioni, Sara and Kaaks, Rudolf and Key, Timothy J and Navarro, Carmen and Nilsson, Peter M and Overvad, Kim and Palli, Domenico and Panico, Salvatore and Quirós, Jose-Ramón and Riboli, Elio and Rolandsson, Olov and Sacerdote, Carlotta and Salamanca-Fernandez, Elena and Slimani, Nadia and Spijkerman, Annemieke M. W and Tjonneland, Anne and Tumino, Rosario and van der A, Daphne L and van der Schouw, Yvonne T and McCarthy, Mark I and Barroso, Inês and O’Rahilly, Stephen and Savage, David B and Sattar, Naveed and Langenberg, Claudia and Scott, Robert A and Wareham, Nicholas J and Medicinska fakulteten and Institutionen för folkhälsa och klinisk medicin and Allmänmedicin and Umeå universitet and Medicin
JAMA, ISSN 0098-7484, 10/2016, Volume 316, Issue 13, pp. 1383 - 1391
IMPORTANCE: Low-density lipoprotein cholesterol (LDL-C)–lowering alleles in or near NPC1L1 or HMGCR, encoding the respective molecular targets of ezetimibe and... 
Simvastatin - adverse effects | Lipoproteins - genetics | Diabetes Mellitus, Type 2 - genetics | Humans | Middle Aged | Risk | Genetic Variation | Drug Therapy, Combination - adverse effects | Adult | Cholesterol, LDL - blood | Odds Ratio | ATP Binding Cassette Transporter, Subfamily G, Member 5 - genetics | Receptors, LDL - genetics | Genetic Association Studies | Ezetimibe - adverse effects | Membrane Proteins - genetics | Simvastatin - administration & dosage | Ezetimibe - administration & dosage | Proprotein Convertase 9 - genetics | Polymorphism, Genetic | Cholesterol, LDL - genetics | Diabetes Mellitus, Type 2 - blood | Hydroxymethylglutaryl-CoA Reductase Inhibitors - adverse effects | Coronary Artery Disease - genetics | Aged | Hydroxymethylglutaryl CoA Reductases - genetics | Cohort Studies | Type 2 diabetes | Cholesterol, LDL | Research | Therapy | Side effects | Diabetes | Low density lipoprotein | Genes | Meta-analysis | Index Medicus | Abridged Index Medicus | Clinical Medicine | Medical and Health Sciences | Endokrinologi och diabetes | Klinisk medicin | Medicin och hälsovetenskap | Endocrinology and Diabetes
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2. Genomic structural variants
: methods and protocols
by Feuk, Lars
2012, Methods in molecular biology, ISBN 1617795062, Volume 838., xi, 386
Genetic disorders
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3. Full Text SLCO1B1 Variants and Statin-Induced Myopathy — A Genomewide Study
by Meade, T and Sleight, P and Collins, R and Armitage, J and Parish, S and Barton, J and Bray, C and Wincott, E and Bowman, L and Clarke, R and Graham, I and Simpson, D and Warlow, C and Wilcken, D and Tobert, J and Musliner, T and Wilhelmsen, L and Doll, R and Fox, K.M and Hill, C and Sandercock, P and Peto, R and Webster, J and Jamieson, J and Nixon, A and Lackie, S and Thompson, J and Brown, M and Blackwood, S and Morgan, M and Rhoden, W and Saeed, B and Houghton, M and Nicholson, A and Simpson, C and Hoburn, B and Cooper, I and Gallivan, A and Pickerell, E and Hancock, J and Watkinson, J and Ryder, B and Jones, S and Burbridge, W and Kitchen, M and O'Leary, H and Verow, C and Meynell, L and Rollinson, L and Bain, S and Jones, A and Jewkes, C and Russon, C and Bateson, M and Gill, P and Nicol, J and Stansbie, D and Bayly, G and Andrews, G and Halestrap, M and Meredith, J and Best, R and Appleyard, D and Briggs, R and Wareing, H and Holmes, K and Holt, J and Kenyon, M and White, C and Khalifa, M and Newton, D and Wass, A and Watkinson, R and Creamer, J and Anderson, S and Bethell, A and Butler, C and Washington, M and Weston, E and Machin, J and Cleaver, K and Wray, R and Sinclair, J and Van Aalst, A and Been, M and Mattu, R and Bates, D and Burke, A and Gill, L and Walton, E and Cowley, M and Robson, H and Graham, A and Rose, G and Kerr, M and Mallinson, J and Peascod, B and Kalk, J and Scott, A and Donnelly, R and ... and The SEARCH Collaborative Group and SEARCH Collaborative Grp and SEARCH Collaborative Group and Sahlgrenska akademin and Institutionen för medicin, avdelningen för akut och kardiovaskulär medicin and Institute of Medicine, Department of Emergeny and Cardiovascular Medicine and Göteborgs universitet and Gothenburg University and Sahlgrenska Academy
The New England Journal of Medicine, ISSN 0028-4793, 08/2008, Volume 359, Issue 8, pp. 789 - 799
A genomewide screen of patients with myopathy who were taking high-dose simvastatin (80 mg per day) showed a strong association between myopathy and variants... 
POPULATION | TRIALS | MEDICINE, GENERAL & INTERNAL | METAANALYSIS | EFFICACY | SAFETY | WIDE ASSOCIATION | TRANSPORTING POLYPEPTIDE 1B1 | SIMVASTATIN | SINGLE NUCLEOTIDE POLYMORPHISMS | ATORVASTATIN | Simvastatin - therapeutic use | Simvastatin - adverse effects | Humans | Middle Aged | Diabetes Mellitus - drug therapy | Genotype | Male | Risk | Genetic Markers | Hydroxymethylglutaryl-CoA Reductase Inhibitors - pharmacokinetics | Organic Anion Transporters - genetics | Hydroxymethylglutaryl-CoA Reductase Inhibitors - adverse effects | Myocardial Infarction - drug therapy | Arterial Occlusive Diseases - drug therapy | Hydroxymethylglutaryl-CoA Reductase Inhibitors - therapeutic use | Female | Aged | Myocardial Infarction - prevention & control | Polymorphism, Single Nucleotide | Chromosomes, Human, Pair 12 | Muscular Diseases - chemically induced | Muscular Diseases - genetics | Solute Carrier Organic Anion Transporter Family Member 1b1 | Complications and side effects | Analysis | Muscle diseases | Genetic aspects | Dosage and administration | Single nucleotide polymorphisms | Risk factors | Statins | Drug therapy | Kinases | Drug dosages | Cholesterol | Index Medicus | Abridged Index Medicus | MEDICIN OCH HÄLSOVETENSKAP | Single Nucleotide | genetics | Arterial Occlusive Diseases | pharmacokinetics | Muscular Diseases | Hydroxymethylglutaryl-CoA Reductase Inhibitors | Chromosomes | MEDICAL AND HEALTH SCIENCES | Human | drug therapy | chemically induced | Simvastatin | prevention & control | Diabetes Mellitus | Myocardial Infarction | Pair 12 | Organic Anion Transporters | adverse effects | therapeutic use | Polymorphism
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4. Full Text Association of Triglyceride-Lowering LPL Variants and LDL-C-Lowering LDLR Variants with Risk of Coronary Heart Disease
by Ference, Brian A and Kastelein, John J. P and Ray, Kausik K and Ginsberg, Henry N and Chapman, M. John and Packard, Chris J and Laufs, Ulrich and Oliver-Williams, Clare and Wood, Angela M and Butterworth, Adam S and Di Angelantonio, Emanuele and Danesh, John and Nicholls, Stephen J and Bhatt, Deepak L and Sabatine, Marc S and Catapano, Alberico L
JAMA - Journal of the American Medical Association, ISSN 0098-7484, 01/2019, Volume 321, Issue 4, pp. 364 - 373
IMPORTANCE Triglycerides and cholesterol are both carried in plasma by apolipoprotein B (ApoB)-containing lipoprotein particles. It is unknown whether lowering... 
GEMFIBROZIL | MEDICINE, GENERAL & INTERNAL | METAANALYSIS | INHIBITION | THERAPY | REDUCTION | CARDIOVASCULAR EVENTS | ATHEROSCLEROSIS | DENSITY-LIPOPROTEIN-CHOLESTEROL | WIDE ASSOCIATION | SECONDARY PREVENTION | Care and treatment | Genetic variation | Cholesterol, LDL | Genetic aspects | Research | Health aspects | Coronary heart disease | Risk factors | Myocardial infarction | Lipoproteins (low density) | Health risks | Risk | Cardiovascular disease | Lipids | Triglycerides | Lipoprotein lipase | LDLR gene | Lipase | Apolipoproteins | Coronary artery disease | Cholesterol | Apolipoprotein B | Lipoproteins | Randomization | Genetic analysis | Lipoprotein (low density) receptors | Infarction | Cardiovascular diseases | Health risk assessment | Heart diseases | Index Medicus | Abridged Index Medicus | Original Investigation
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5. Full Text TREM2 Variants in Alzheimer's Disease
by Guerreiro, Rita and Wojtas, Aleksandra and Bras, Jose and Carrasquillo, Minerva and Rogaeva, Ekaterina and Majounie, Elisa and Cruchaga, Carlos and Sassi, Celeste and Kauwe, John S.K and Younkin, Steven and Hazrati, Lilinaz and Collinge, John and Pocock, Jennifer and Lashley, Tammaryn and Williams, Julie and Lambert, Jean-Charles and Amouyel, Philippe and Goate, Alison and Rademakers, Rosa and Morgan, Kevin and Powell, John and St. George-Hyslop, Peter and Singleton, Andrew and Hardy, John and Alzheimer Genetic Anal Grp and EADI Consortium and GERAD Consortium and UKBE Consortium and Alzheimer Genetic Analysis Group
The New England Journal of Medicine, ISSN 0028-4793, 01/2013, Volume 368, Issue 2, pp. 117 - 127
This study shows that variants in TREM2 are a rare cause of Alzheimer's disease and underscores the role of the microglial cell in the disease mechanism and as... 
COMMON VARIANTS | MEDICINE, GENERAL & INTERNAL | IDENTIFIES VARIANTS | GENE | MICROGLIA | FRAMEWORK | DNA-SEQUENCING DATA | MISSENSE MUTATIONS | GENOME-WIDE ASSOCIATION | TRANSGENIC MICE | CD2AP | Genome-Wide Association Study | Membrane Glycoproteins - metabolism | Mice, Inbred A | Humans | Risk Factors | Genotype | Genotyping Techniques | RNA, Messenger - metabolism | Alzheimer Disease - pathology | Membrane Glycoproteins - genetics | Genetic Variation | Exome - genetics | Animals | Brain - pathology | Heterozygote | Aged | Mice | Mutation | Alzheimer Disease - genetics | Receptors, Immunologic - genetics | Sequence Analysis, DNA - methods | Receptors, Immunologic - metabolism | Gene mutations | Genetic variation | Causes of | Genetic aspects | Research | Apolipoproteins | Alzheimer's disease | Health aspects | Proteins | Genetics | Genomes | Alzheimers disease | Index Medicus | Abridged Index Medicus
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6. Full Text Two cancer‐predisposing variants in one family: Incidental finding of a fumarate hydrogenase (FH) germline variant in a family with Li–Fraumeni syndrome
by Pahl, Lisa and Beier, Rita and Neuhoff, Nils and Auber, Bernd and Höfs, Michaela and Prott, Eva‐Christina and Schlegelberger, Brigitte and Reinhardt, Dirk and Steinemann, Doris
Pediatric Blood & Cancer, ISSN 1545-5009, 10/2018, Volume 65, Issue 10, pp. e27254 - n/a
TP53 | Li–Fraumeni Syndrome | FH | HLRCC | ONCOLOGY | Li-Fraumeni Syndrome | MUTATION | HEREDITARY LEIOMYOMATOSIS | PEDIATRICS | HEMATOLOGY | RENAL-CELL CANCER | Li-Fraumeni Syndrome - genetics | Genetic Predisposition to Disease - genetics | Neoplasms - genetics | Pedigree | Humans | Adolescent | Incidental Findings | Female | Male | Fumarate Hydratase - genetics | Mutation | Tumor Suppressor Protein p53 - genetics | Tumor proteins | Hydrogenase | Cancer | Index Medicus
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7. Full Text SCN5A (Na-V 1.5) Variant Functional Perturbation and Clinical Presentation Variants of a Certain Significance
by Kroncke, BM and Glazer, AM and Smith, DK and Blume, JD and Roden, DM
CIRCULATION-GENOMIC AND PRECISION MEDICINE, ISSN 2574-8300, 05/2018, Volume 11, Issue 5, pp. e002095 - e002095
BACKGROUND: Accurately predicting the impact of rare nonsynonymous variants on disease risk is an important goal in precision medicine. Variants in the cardiac... 
TYPE-3 | CARDIAC & CARDIOVASCULAR SYSTEMS | Brugada syndrome | long QT syndrome | penetrance | GUIDELINES | PHENOTYPE | STANDARDS | LONG-QT SYNDROME | POLYMORPHISM | ion channels | CARDIAC SODIUM-CHANNEL | electrophysiology | MUTATION | GENETICS & HEREDITY | Electrophysiology | Research | Perturbation (Mathematics) | Tests, problems and exercises | Index Medicus | Ion Channels | ion channel | Membrane Transport | Genetics | SCN5A | Arrhythmias
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8. Full Text Genome-wide association study identifies variants in the MHC class I, IL10 , and IL23R-IL12RB2 regions associated with Behçet's disease
by Yang, Barbara and Gül, Ahmet and Akman-Demir, Gulsen and Gadina, Massimo and Abaci, Neslihan and Le, Julie M and Cakiris, Aris and Ustek, Duran and Chen, Wei and Stanford, Miles and Cosan, Fulya and Azizlerli, Gulsevim and Ombrello, Michael J and Erer, Burak and Kaklamanis, Phaedon and Ollier, William E R and Kaklamani, Virginia G and Tugal-Tutkun, Ilknur and Amos, Christopher I and Ghabra, Marwen and Kastner, Daniel L and Kose, Afet Akdag and Bang, Dongsik and Ben-Chetrit, Eldad and Brand, Oliver J and O'Shea, John and Remmers, Elaine F and Satorius, Colleen and Aglar, Oznur and Wallace, Graham R and Azakli, Hulya and Cho, Young-Hun and Kirino, Yohei and Emrence, Zeliha and Dizon, Michael B and Korman, Benjamin D and Fortune, Farida
Nature Genetics, ISSN 1061-4036, 08/2010, Volume 42, Issue 8, pp. 698 - 702
Behçet's disease is a genetically complex disease of unknown etiology characterized by recurrent inflammatory attacks affecting the orogenital mucosa, eyes and... 
INFLAMMATORY-BOWEL-DISEASE | GENE | COLITIS | INTERLEUKIN-10 RECEPTOR | SUSCEPTIBILITY | TRANSCRIPTION | GENETICS & HEREDITY | RISK | LOCI | POLYMORPHISM | PROMOTER | Genome-Wide Association Study | Europe | Humans | Genes, MHC Class I - genetics | HLA-B Antigens - immunology | Case-Control Studies | Middle East | Turkey | Asia | Interleukin-10 - genetics | Alleles | Polymorphism, Single Nucleotide | Behcet Syndrome - genetics | HLA-B Antigens - genetics | Interleukin-10 - immunology | Behcet Syndrome - immunology | Behcet's disease | Genetic aspects | Health aspects | Distribution | Genomic imprinting | Haplotypes | Studies | Genetics | Regression analysis | Genes | Rheumatoid arthritis | Index Medicus
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