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American journal of human genetics, ISSN 0002-9297, 01/2016, Volume 98, Issue 1, pp. 58 - 74
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Autistic Disorder - genetics | DNA - genetics | Exome | Pedigree | Humans | Female | Male | Polymorphism, Single Nucleotide | Genome, Human | Autism | Epigenetic inheritance | Genetic aspects | Nucleotide sequencing | Observations | Methods | DNA sequencing | Families & family life | Genomes | Mutation | Genes | Deoxyribonucleic acid--DNA | Index Medicus
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Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants
Nature (London), ISSN 0028-0836, 01/2013, Volume 493, Issue 7431, pp. 216 - 220
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | European Continental Ancestry Group - genetics | United States | Humans | Exons - genetics | Open Reading Frames - genetics | Europe - ethnology | Exome - genetics | Africa - ethnology | Alleles | Polymorphism, Single Nucleotide - genetics | Genetic Variation - genetics | African Continental Ancestry Group - genetics | Evolution, Molecular | Physiological aspects | Research | Gene mutations | Genetic variation | Population genetics | Studies | Proteins | Population growth | Quality control | African Americans | Evolution | Principal components analysis | Evolution & development | Age | Methods | Index Medicus
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American journal of human genetics, ISSN 0002-9297, 10/2013, Volume 93, Issue 4, pp. 631 - 640
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Exome | Genetic Predisposition to Disease | Disease - genetics | Gene Frequency | Humans | Databases, Genetic | Incidental Findings | Penetrance | Polymorphism, Single Nucleotide | Research | Nucleotide sequencing | Gene expression | Genomics | DNA sequencing | Genomes | Biological variation | Mutation | Index Medicus
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American journal of human genetics, ISSN 0002-9297, 02/2014, Volume 94, Issue 2, pp. 161 - 175
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Exome | Mannose - metabolism | Congenital Disorders of Glycosylation - therapy | Glycogen - metabolism | Humans | Glucose - metabolism | Homeostasis | Glycosylation | Mutation | Genome, Human | Congenital Disorders of Glycosylation - genetics | Congenital Disorders of Glycosylation - physiopathology | Physiological aspects | Genetic research | Genetic disorders | Research | Gene mutations | Proteins | Genes | Index Medicus | Review
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Nature (London), ISSN 0028-0836, 2015, Volume 518, Issue 7537, pp. 102 - +
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Genetics, Population | Myocardial Infarction - blood | Myocardial Infarction - genetics | Receptors, LDL - genetics | Apolipoprotein A-V | Genetic Predisposition to Disease - genetics | Apolipoproteins A - genetics | National Heart, Lung, and Blood Institute (U.S.) | Age Factors | United States | Humans | Middle Aged | Male | Mutation - genetics | Case-Control Studies | Exome - genetics | Age of Onset | Alleles | Coronary Artery Disease - genetics | Triglycerides - blood | Cholesterol, LDL - blood | Female | Heterozygote | Usage | Low density lipoproteins | Exome sequencing | Physiological aspects | Genetic aspects | Research | Diagnosis | Heart attack | Risk factors | Proteins | Studies | Algorithms | Heart attacks | Genes | Cardiovascular disease | Triglycerides | Mutation | Cholesterol | Index Medicus | Medicin och hälsovetenskap
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Nature communications, ISSN 2041-1723, 03/2020, Volume 11, Issue 1, pp. 1523 - 1523
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Haplotypes | Populations | Linkage disequilibrium | Health risks | Risk | Population studies | Genomes | Genetic diversity | Loci | Consortia | Genetic variance | Algorithms | Etiology | Chromosome 8 | Genetics | Heritability | Mutation | Health risk assessment | Prostate cancer | Prostate | Cancer | Index Medicus
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American journal of human genetics, ISSN 0002-9297, 08/2013, Volume 93, Issue 2, pp. 398 - 404
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Aneurysm, Dissecting - genetics | Aortic Aneurysm, Thoracic - genetics | Fibroblasts - enzymology | Myosin Light Chains - genetics | Humans | Middle Aged | Molecular Sequence Data | Cyclic GMP-Dependent Protein Kinase Type I - genetics | Male | Muscle, Smooth, Vascular - physiopathology | Exome | Cyclic GMP-Dependent Protein Kinase Type I - metabolism | Aneurysm, Dissecting - enzymology | Aneurysm, Dissecting - physiopathology | Adult | Female | Amino Acid Sequence | Acute Disease | Aortic Aneurysm, Thoracic - enzymology | Aorta, Thoracic - physiopathology | Fibroblasts - pathology | Aortic Aneurysm, Thoracic - physiopathology | Aorta, Thoracic - enzymology | Muscle Contraction | Cyclic GMP - metabolism | Pedigree | Adolescent | High-Throughput Nucleotide Sequencing | Myosin Light Chains - metabolism | Mutation | Muscle, Smooth, Vascular - enzymology | Physiological aspects | Aortic aneurysms | Genetic aspects | Research | Gene mutations | Gene expression | Aneurysms | Phosphorylation | Kinases | Dissection | Cells | Index Medicus | Report
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