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1. Full Text Genome Sequencing of Autism-Affected Families Reveals Disruption of Putative Noncoding Regulatory DNA
by Turner, Tychele N and Hormozdiari, Fereydoun and Duyzend, Michael H and McClymont, Sarah A and Hook, Paul W and Iossifov, Ivan and Raja, Archana and Baker, Carl and Hoekzema, Kendra and Stessman, Holly A and Zody, Michael C and Nelson, Bradley J and Huddleston, John and Sandstrom, Richard and Smith, Joshua D and Hanna, David and Swanson, James M and Faustman, Elaine M and Bamshad, Michael J and Stamatoyannopoulos, John and Nickerson, Deborah A and McCallion, Andrew S and Darnell, Robert and Eichler, Evan E
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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2. Full Text Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants
by Fu, Wenqing and O'Connor, Timothy D and Jun, Goo and Kang, Hyun Min and Abecasis, Goncalo and Leal, Suzanne M and Gabriel, Stacey and Altshuler, David and Shendure, Jay and Nickerson, Deborah A and Bamshad, Michael J and Akey, Joshua M and NHLBI Exome Sequencing Project
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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3. Full Text Actionable, Pathogenic Incidental Findings in 1,000 Participants’ Exomes
by Dorschner, Michael O and Amendola, Laura M and Turner, Emily H and Robertson, Peggy D and Shirts, Brian H and Gallego, Carlos J and Bennett, Robin L and Jones, Kelly L and Tokita, Mari J and Bennett, James T and Kim, Jerry H and Rosenthal, Elisabeth A and Kim, Daniel S and Tabor, Holly K and Bamshad, Michael J and Motulsky, Arno G and Scott, C. Ronald and Pritchard, Colin C and Walsh, Tom and Burke, Wylie and Raskind, Wendy H and Byers, Peter and Hisama, Fuki M and Nickerson, Deborah A and Jarvik, Gail P and National Heart, Lung, and Blood Institute Grand Opportunity Exome Sequencing Project and Natl Heart Lung And Blood Inst and Grand Opportunity Exome Sequencing
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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4. Full Text Solving Glycosylation Disorders: Fundamental Approaches Reveal Complicated Pathways
by Freeze, Hudson H and Chong, Jessica X and Bamshad, Michael J and Ng, Bobby G
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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5. Full Text Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction
by Do, Ron and Stitziel, Nathan O and Won, Hong-Hee and Jørgensen, Anders Berg and Duga, Stefano and Angelica Merlini, Pier and Kiezun, Adam and Farrall, Martin and Goel, Anuj and Zuk, Or and Guella, Illaria and Asselta, Rosanna and Lange, Leslie A and Peloso, Gina M and Auer, Paul L and Girelli, Domenico and Martinelli, Nicola and Farlow, Deborah N and DePristo, Mark A and Roberts, Robert and Stewart, Alexander F. R and Saleheen, Danish and Danesh, John and Epstein, Stephen E and Sivapalaratnam, Suthesh and Hovingh, G. Kees and Kastelein, John J and Samani, Nilesh J and Schunkert, Heribert and Erdmann, Jeanette and Shah, Svati H and Kraus, William E and Davies, Robert and Nikpay, Majid and Johansen, Christopher T and Wang, Jian and Hegele, Robert A and Hechter, Eliana and Marz, Winfried and Kleber, Marcus E and Huang, Jie and Johnson, Anew D and Li, Mingyao and Burke, Greg L and Gross, Myron and Liu, Yongmei and Assimes, Themistocles L and Heiss, Gerardo and Lange, Ethan M and Folsom, Aaron R and NHLBI Exome Sequencing Project
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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6. Full Text 8q24 genetic variation and comprehensive haplotypes altering familial risk of prostate cancer
by Dupont, William D and Breyer, Joan P and Plummer, W. Dale and Chang, Sam S and Cookson, Michael S and Smith, Joseph A and Blue, Elizabeth E and Bamshad, Michael J and Smith, Jeffrey R and Chong, Jessica and Nickerson, Deborah and Univ Washington Ctr Mendelian Geno and University of Washington Center for Mendelian Genomics
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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7. Full Text Recurrent Gain-of-Function Mutation in PRKG1 Causes Thoracic Aortic Aneurysms and Acute Aortic Dissections
by Guo, Dong-chuan and Regalado, Ellen and Casteel, Darren E and Santos-Cortez, Regie L and Gong, Limin and Kim, Jeong Joo and Dyack, Sarah and Horne, S. Gabrielle and Chang, Guijuan and Jondeau, Guillaume and Boileau, Catherine and Coselli, Joseph S and Li, Zhenyu and Leal, Suzanne M and Shendure, Jay and Rieder, Mark J and Bamshad, Michael J and Nickerson, Deborah A and Kim, Choel and Milewicz, Dianna M and GenTAC Registry Consortium and National Heart, Lung, and Blood Institute Grand Opportunity Exome Sequencing Project and Natl Heart Lung Blood Inst Grand O
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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