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1. 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 : the journal of the American Medical Association, ISSN 0098-7484, 01/2019, Volume 321, Issue 4, pp. 364 - 373
Coronary Disease/blood | Cholesterol, LDL/blood | Genetic Predisposition to Disease | Apolipoproteins B/blood | Loss of Function Mutation | Prospective Studies | Humans | Middle Aged | Risk Factors | Male | Case-Control Studies | Lipoprotein Lipase/genetics | Genetic Variation | Metabolic Networks and Pathways | Mendelian Randomization Analysis | Triglycerides/blood | Female | Receptors, LDL/genetics | Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Coronary Disease - blood | Receptors, LDL - genetics | Lipoprotein Lipase - genetics | Apolipoproteins B - blood | Coronary Disease - genetics | Triglycerides - blood | Cholesterol, LDL - blood | Lipoprotein Lipase - metabolism | 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 | 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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2. Full Text Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification
by Parsons, Michael T and Tudini, Emma and Li, Hongyan and Hahnen, Eric and Wappenschmidt, Barbara and Feliubadalo, Lidia and Aalfs, Cora M and Agata, Simona and Aittomaki, Kristiina and Alducci, Elisa and Concepcion Alonso-Cerezo, Maria and Arnold, Norbert and Auber, Bernd and Austin, Rachel and Azzollini, Jacopo and Balmana, Judith and Barbieri, Elena and Bartram, Claus R and Blanco, Ana and Bluemcke, Britta and Bonache, Sana and Bonanni, Bernardo and Borg, Ake and Bortesi, Beatrice and Brunet, Joan and Bruzzone, Carla and Bucksch, Karolin and Cagnoli, Giulia and Caldes, Trinidad and Caliebe, Almuth and Caligo, Maria A and Calvello, Mariarosaria and Capone, Gabriele L and Caputo, Sanine M and Carnevali, Ileana and Carrasco, Estela and Caux-Moncoutier, Virginie and Cavalli, Pietro and Cini, Giulia and Clarke, Edward M and Concolino, Paola and Cops, Elisa J and Cortesi, Laura and Couch, Fergus J and Darder, Esther and de la Hoya, Miguel and Dean, Michael and Debatin, Irmgard and Del Valle, Jesus and Janssen, Linda Am and Gomez Garcia, Encarna and KConFab Investigators
Human mutation, ISSN 1059-7794, 09/2019, Volume 40, Issue 9, pp. 1557 - 1578
uncertain significance | RISKS | GUIDELINES | multifactorial | SEQUENCE VARIANTS | BRCA1 | BRCA2 | classification | SPLICING ANALYSIS | INTEGRATED EVALUATION | BREAST-CANCER | clinical | FUNCTIONAL ASSAYS | quantitative | variant | CLINGEN | OVARIAN | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Computational Biology - methods | Genetic Predisposition to Disease | Alternative Splicing | Early Detection of Cancer | Humans | Male | Neoplasms - diagnosis | Mutation, Missense | Multifactorial Inheritance | BRCA1 Protein - genetics | Likelihood Functions | Neoplasms - genetics | Female | BRCA2 Protein - genetics | RNA | Segregation | BRCA2 protein | Pathogenicity | Splicing | AMP | BRCA1 protein | Classification | Breast cancer | mRNA | Index Medicus | Life Sciences | Human health and pathology | Special | Medicinsk genetik | Basic Medicine | Medical Genetics | Medical and Health Sciences | Medicin och hälsovetenskap | Medicinska och farmaceutiska grundvetenskaper
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3. Full Text Accurate classification of BRCA1 variants with saturation genome editing
by Findlay, Gregory M and Daza, Riza M and Martin, Beth and Zhang, Melissa D and Leith, Anh P and Gasperini, Molly and Janizek, Joseph D and Huang, Xingfan and Starita, Lea M and Shendure, Jay
Nature (London), ISSN 0028-0836, 10/2018, Volume 562, Issue 7726, pp. 217 - 222
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Cell Line | Hereditary Breast and Ovarian Cancer Syndrome - genetics | Prognosis | Genetic Predisposition to Disease - classification | Recombinational DNA Repair - genetics | Humans | RNA, Messenger - genetics | Models, Molecular | Exons - genetics | RNA, Messenger - metabolism | Gene Editing | Genome, Human - genetics | BRCA1 Protein - genetics | Female | Genetic Variation - genetics | Genes, Essential - genetics | Loss of Function Mutation - genetics | Suppressor cells | Identification and classification | Testing | Pathogens | Ovarian carcinoma | BRCA1 protein | Exons | Saturation | Editing | Breast cancer | Genomes | DNA repair | Ovarian cancer | Pathogenicity | Domains | Proteins | Testing laboratories | Classification | Stem cells | Mutation | Bioinformatics | Deoxyribonucleic acid--DNA | Tumors | Apoptosis | Index Medicus | genome editing | functional assay | BRCA1 | VUS
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4. Full Text Splice variants of RAS—translational significance
by Rásó, Erzsébet
Cancer and metastasis reviews, ISSN 0167-7659, 12/2020, Volume 39, Issue 4, pp. 1039 - 1049
Function | NRAS | KRAS | Splicing | Expression | HRAS | Life Sciences & Biomedicine | Oncology | Science & Technology | Alternative splicing | Hot spots | Isoforms | Structure-function relationships | Index Medicus
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5. Full Text Mendelian Randomization Analysis With Multiple Genetic Variants Using Summarized Data
by Burgess, Stephen and Butterworth, Adam and Thompson, Simon G
Genetic epidemiology, ISSN 0741-0395, 11/2013, Volume 37, Issue 7, pp. 658 - 665
instrumental variables | Mendelian randomization | genome‐wide association study | weak instruments | causal inference | Causal inference | Weak instruments | Instrumental variables | Genome-wide association study | Genetics & Heredity | Life Sciences & Biomedicine | Science & Technology | Mathematical & Computational Biology | Mendelian Randomization Analysis - methods | Genome-Wide Association Study | Bias | Humans | Risk Factors | Genes - genetics | Linkage Disequilibrium - genetics | Coronary Disease - physiopathology | Linear Models | Cholesterol, LDL - genetics | Likelihood Functions | Phenotype | Coronary Disease - genetics | Coronary Disease - metabolism | Cholesterol, LDL - biosynthesis | Cholesterol, LDL - metabolism | Least-Squares Analysis | Genetic Variation - genetics | Models, Genetic | Odds Ratio | Genetic research | Coronary heart disease | Low density lipoproteins | Analysis | Genomics | Cholesterol | Index Medicus | genome-wide association study
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6. Full Text Genetic Variants Associated with Lp(a) Lipoprotein Level and Coronary Disease
by Clarke, Robert and Peden, John F and Hopewell, Jemma C and Kyriakou, Theodosios and Goel, Anuj and Heath, Simon C and Parish, Sarah and Barlera, Simona and Franzosi, Maria Grazia and Rust, Stephan and Bennett, Derrick and Silveira, Angela and Malarstig, Anders and Green, Fiona R and Lathrop, Mark and Gigante, Bruna and Leander, Karin and de Faire, Ulf and Seedorf, Udo and Hamsten, Anders and Collins, Rory and Watkins, Hugh and Farrall, Martin and PROCARDIS Consortium
The New England journal of medicine, ISSN 0028-4793, 12/2009, Volume 361, Issue 26, pp. 2518 - 2528
Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Coronary Disease - blood | Myocardial Infarction - genetics | Genetic Predisposition to Disease | Genome-Wide Association Study | Oligonucleotide Array Sequence Analysis | Humans | Kringles - genetics | Risk Factors | Genotype | Lipoprotein(a) - chemistry | Genetic Markers | Case-Control Studies | Regression Analysis | Likelihood Functions | Coronary Disease - genetics | Polymorphism, Single Nucleotide | Lipoprotein(a) - blood | Lipoprotein(a) - genetics | Physiological aspects | Genetic aspects | Coronary heart disease | Lipoprotein A | Cardiovascular disease | Lipoproteins | Apolipoproteins | Genes | Coronary vessels | Index Medicus | Abridged Index Medicus | Medicin och hälsovetenskap
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7. Full Text Unusual variants of pre‐excitation: From anatomy to ablation: Part I—Understanding the anatomy of the variants of ventricular pre‐excitation
by Anderson, Robert H and Sánchez‐Quintana, Damián and Mori, Shumpei and Lokhandwala, Yash and Correa, Frederico Soares and Wellens, Hein JJ and Sternick, Eduardo Back
Journal of cardiovascular electrophysiology, ISSN 1045-3873, 10/2019, Volume 30, Issue 10, pp. 2170 - 2180
unusual accessory pathways | variants of ventricular pre‐excitation | anatomy | Mahaim | decremental conduction | Cardiac & Cardiovascular Systems | Life Sciences & Biomedicine | Cardiovascular System & Cardiology | Science & Technology | Radio broadcasting | Ablation (Surgery) | Conduction | Pathways | Computed tomography | Electrocardiography | Excitation | Ventricle | Anatomy | Ablation | Structure-function relationships | Index Medicus
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8.