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1. Full Text The Matchmaker Exchange: a platform for rare disease gene discovery
by Philippakis, A.A and Azzariti, D.R and Beltran, S and Brookes, A.J and Brownstein, C.A and Brudno, M and Brunner, H.G and Buske, O.J and Carey, K and Doll, C and Dumitriu, S and Dyke, S.O.M and Dunnen, J.T. den and Firth, H.V and Gibbs, R.A and Girdea, M and Gonzalez, M and Haendel, M.A and Hamosh, A and Holm, I.A and Huang, L and Hurles, M.E and Hutton, B and Krier, J.B and Misyura, A and Mungall, C.J and Paschall, J and Paten, B and Robinson, P.N and Schiettecatte, F and Sobreira, N.L and Swaminathan, G.J and Taschner, P.E.M and Terry, S.F and Washington, N.L and Zuchner, S and Boycott, K.M and Rehm, H.L and Lawrence Berkeley National Lab. (LBNL), Berkeley, CA (United States)
Human mutation, ISSN 1059-7794, 2015, Volume 36, Issue 10, pp. 915 - 921
GA4GH, IRDiRC | rare disease | Matchmaker Exchange | gene discovery | matchmaking | genomic API | Genomic API | Matchmaking | Gene discovery | Rare disease | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Rare Diseases - genetics | Genetic Predisposition to Disease - genetics | Genetic Association Studies | Database Management Systems | Humans | Information Dissemination - methods | Databases, Genetic | Software | Boycotts | Children's hospitals | Genes | Genomics | Application programming interface | Genetic disorders | Databases | Mutation | Index Medicus | BASIC BIOLOGICAL SCIENCES | 60 APPLIED LIFE SCIENCES | IRDiRC | GA4GH
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2. Full Text A Systematic Survey of Loss-of-Function Variants in Human Protein-Coding Genes
by Daniel G. MacArthur and Suganthi Balasubramanian and Adam Frankish and Ni Huang and James Morris and Klaudia Walter and Luke Jostins and Lukas Habegger and Joseph K. Pickrell and Stephen B. Montgomery and Cornelis A. Albers and Zhengdong D. Zhang and Donald F. Conrad and Gerton Lunter and Hancheng Zheng and Qasim Ayub and Mark A. DePristo and Eric Banks and Min Hu and Robert E. Handsaker and Jeffrey A. Rosenfeld and Menachem Fromer and Mike Jin and Xinmeng Jasmine Mu and Ekta Khurana and Kai Ye and Mike Kay and Gary Ian Saunders and Marie-Marthe Suner and Toby Hunt and H. A. Barnes and Clara Amid and Denise R. Carvalho-Silva and Alexandra H. Bignell and Catherine Snow and Bryndis Yngvadottir and Suzannah Bumpstead and David N. Cooper and Yali Xue and Irene Gallego Romero and Jun Wang and Yingrui Li and Richard A. Gibbs and Steven A. McCarroll and Emmanouil T. Dermitzakis and Jonathan K. Pritchard and Jeffrey C. Barrett and Jennifer Harrow and Matthew E. Hurles and Mark B. Gerstein and Chris Tyler-Smith and 1000 Genomes Project Consortium
Science (American Association for the Advancement of Science), ISSN 0036-8075, 2/2012, Volume 335, Issue 6070, pp. 823 - 828
Disease models | Muscular diseases | RESEARCH ARTICLES | Genes | Alleles | Medical genetics | Nonsense | Genomes | Genetic diseases | Sequencing | Human genetics | Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Fundamental and applied biological sciences. Psychology | Classical genetics, quantitative genetics, hybrids | Human | Biological and medical sciences | Genetics of eukaryotes. Biological and molecular evolution | Genetic Variation | Proteins - genetics | Gene Expression | Phenotype | Disease - genetics | Gene Frequency | Humans | Selection, Genetic | Polymorphism, Single Nucleotide | Genome, Human | Genetic variation | Genomics | Research | Evolution | Index Medicus
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3. Full Text A Drosophila Genetic Resource of Mutants to Study Mechanisms Underlying Human Genetic Diseases
by Yamamoto, Shinya and Jaiswal, Manish and Charng, Wu-Lin and Gambin, Tomasz and Karaca, Ender and Mirzaa, Ghayda and Wiszniewski, Wojciech and Sandoval, Hector and Haelterman, Nele A and Xiong, Bo and Zhang, Ke and Bayat, Vafa and David, Gabriela and Li, Tongchao and Chen, Kuchuan and Gala, Upasana and Harel, Tamar and Pehlivan, Davut and Penney, Samantha and Vissers, Lisenka E.L.M and de Ligt, Joep and Jhangiani, Shalini N and Xie, Yajing and Tsang, Stephen H and Parman, Yesim and Sivaci, Merve and Battaloglu, Esra and Muzny, Donna and Wan, Ying-Wooi and Liu, Zhandong and Lin-Moore, Alexander T and Clark, Robin D and Curry, Cynthia J and Link, Nichole and Schulze, Karen L and Boerwinkle, Eric and Dobyns, William B and Allikmets, Rando and Gibbs, Richard A and Chen, Rui and Lupski, James R and Wangler, Michael F and Bellen, Hugo J
Cell (Cambridge), ISSN 0092-8674, 09/2014, Volume 159, Issue 1, pp. 200 - 214
Biochemistry & Molecular Biology | Life Sciences & Biomedicine | Science & Technology | Cell Biology | Inheritance Patterns | Animals | Genetic Testing | Disease - genetics | RNA Interference | Humans | X Chromosome | Drosophila melanogaster - genetics | Disease Models, Animal | Genetic research | Medicine, Experimental | Medical research | Genetic aspects | Drosophila | Medical genetics | Index Medicus | microcephaly | ANKLE2 | Charcot-Marie-Tooth disease | CRX | bull’s eye maculopathy | EMS mutagenesis | Drosophila X-chromosome | whole-exome sequencing | DNM2
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4. Full Text Challenges to estimating carbon emissions from tropical deforestation
by RAMANKUTTY, NAVIN and GIBBS, HOLLY K and ACHARD, FRÉDÉRIC and DEFRIES, RUTH and FOLEY, JONATHAN A and HOUGHTON, R. A
Global change biology, ISSN 1354-1013, 01/2007, Volume 13, Issue 1, pp. 51 - 66
land‐cover | tropical | forest | land‐use | carbon | historical | model | Amazon | emissions | deforestation | Deforestation | Land-use | Land-cover | Model | Forest | Tropical | Carbon | Historical | Emissions | Life Sciences & Biomedicine | Biodiversity Conservation | Environmental Sciences & Ecology | Ecology | Biodiversity & Conservation | Science & Technology | Environmental Sciences | Emissions (Pollution) | Analysis | Rainforests | Estimating techniques
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5. Full Text Whole-exome sequencing points to considerable genetic heterogeneity of cerebral palsy
by McMichael, G and Bainbridge, M.N and Haan, E and Corbett, M and Gardner, A and Thompson, S and Bon, B.W.M. van and Eyk, C.L. van and Broadbent, J and Reynolds, C and O'Callaghan, M.E and Nguyen, L.S and Adelson, D.L and Russo, R and Jhangiani, S and Doddapaneni, H and Muzny, D.M and Gibbs, R.A and Gecz, J and MacLennan, A.H
Molecular psychiatry, ISSN 1359-4184, 2015, Volume 20, Issue 2, pp. 176 - 182
Biochemistry & Molecular Biology | Neurosciences | Neurosciences & Neurology | Life Sciences & Biomedicine | Psychiatry | Science & Technology | Genetic Predisposition to Disease - genetics | Gene Library | Humans | Parents | Male | Gestational Age | Sequence Analysis, DNA | Genetic Heterogeneity | Exome | Animals | Adult | Female | Mutation | Cerebral Palsy - genetics | Cohort Studies | Cerebral palsy | Usage | Gene mutations | Exome sequencing | Genetic aspects | Research | Health aspects | Genes | Causation | Posture | Gene sequencing | Heterogeneity | Intolerance | Depletion | Annotations | Sodium channels (voltage-gated) | Paralysis | Chromosomes | Deoxyribonucleic acid--DNA | Index Medicus
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6. Full Text CRHR1 genotypes, neural circuits and the diathesis for anxiety and depression
by Rogers, J and Raveendran, M and Fawcett, G.L and Fox, A.S and Shelton, S.E and Oler, J.A and Cheverud, J and Muzny, D.M and Gibbs, R.A and Davidson, R.J and Kalin, N.H
Molecular psychiatry, ISSN 1359-4184, 06/2013, Volume 18, Issue 6, pp. 700 - 707
corticotrophin-releasing hormone | genetic association | amygdala | rhesus macaque | non-human primate | hippocampus | Biochemistry & Molecular Biology | Neurosciences | Neurosciences & Neurology | Life Sciences & Biomedicine | Psychiatry | Science & Technology | Psychology. Psychoanalysis. Psychiatry | Adult and adolescent clinical studies | Psychopathology. Psychiatry | Mood disorders | Biological and medical sciences | Depression | Medical sciences | Brain - diagnostic imaging | Genetic Predisposition to Disease - genetics | Genetic Association Studies | Receptors, Corticotropin-Releasing Hormone - genetics | Genotype | Male | Macaca mulatta | Positron-Emission Tomography | Depression - genetics | Anxiety - pathology | Brain - metabolism | Anxiety - genetics | Animals | Anxiety - complications | Brain - pathology | Polymorphism, Single Nucleotide - genetics | Depression - complications | Female | Fluorodeoxyglucose F18 | Disease Models, Animal | Anxiety | Genetic aspects | Research | Depression, Mental | Index Medicus
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7. Comparison of algal and fish sources on the oxidative stability of poultry meat and its enrichment with omega-3 polyunsaturated fatty acids
by Rymer, C and Gibbs, R.A and Givens, D.I
Poultry science, ISSN 0032-5791, 01/2010, Volume 89, Issue 1, pp. 150 - 159
Long chain omega-3 polyunsaturated fatty acid | Oxidative stability | Algae | Broiler | Meat | Agriculture | Agriculture, Dairy & Animal Science | Life Sciences & Biomedicine | Science & Technology | Oxidation-Reduction | Meat - analysis | Eukaryota - chemistry | Fatty Acids, Omega-3 - chemistry | Male | Animals | Animal Nutritional Physiological Phenomena | Fatty Acids, Omega-3 - pharmacology | Chickens | Female | Dietary Supplements | Fish Oils - chemistry | Animal Feed | Diet - veterinary
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8. Full Text Model‐Based Meta‐Analysis for Comparative Efficacy and Safety: Application in Drug Development and Beyond
by Mandema, J W and Gibbs, M and Boyd, R A and Wada, D R and Pfister, M
Clinical pharmacology and therapeutics, ISSN 0009-9236, 12/2011, Volume 90, Issue 6, pp. 766 - 769
Life Sciences & Biomedicine | Pharmacology & Pharmacy | Science & Technology | Venous Thromboembolism - prevention & control | Arthritis, Rheumatoid - drug therapy | Humans | Orthopedic Procedures - adverse effects | Antibodies, Monoclonal - therapeutic use | Anticoagulants - therapeutic use | Antirheumatic Agents - therapeutic use | Pharmaceutical research | Usage | Meta-analysis | Index Medicus | Abridged Index Medicus
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9. Full Text De novo mutation in the dopamine transporter gene associates dopamine dysfunction with autism spectrum disorder
by Hamilton, P.J and Campbell, N.G and Sharma, S and Erreger, K and Herborg Hansen, F and Saunders, C and Belovich, A.N and Daly, M.J and Gibbs, R.A and Boerwinkle, E and Buxbaum, J.D and Cook, E.H and Devlin, B and Lim, E.T and Neale, B.M and Roeder, K and Sabo, A and Schellenberg, G.D and Stevens, C and Sutcliffe, J.S and Sahai, M.A and Cook, E.H and Gether, U and Mchaourab, H.S and Matthies, H.J.G and Sutcliffe, J.S and Galli, A and NIH ARRA Autism Sequencing Consort and NIH ARRA Autism Sequencing Consortium
Molecular psychiatry, ISSN 1359-4184, 12/2013, Volume 18, Issue 12, pp. 1315 - 1323
de novo mutation | anomalous dopamine efflux | autism spectrum disorder | dopamine | Drosophila melanogaster | transporter | Biochemistry & Molecular Biology | Neurosciences | Neurosciences & Neurology | Life Sciences & Biomedicine | Psychiatry | Science & Technology | Psychology. Psychoanalysis. Psychiatry | Infantile autism | Psychopathology. Psychiatry | Developmental disorders | Biological and medical sciences | Medical sciences | Child clinical studies | Humans | Risk Factors | Child, Preschool | Child Development Disorders, Pervasive - physiopathology | Male | Dopamine Plasma Membrane Transport Proteins - genetics | Drosophila melanogaster - genetics | Mutation, Missense - genetics | Motor Activity - genetics | Animals | Child Development Disorders, Pervasive - genetics | Dopamine - physiology | Dopaminergic Neurons - physiology | Homeostasis - genetics | Dopamine | Gene mutations | Pervasive developmental disorders | Genetic aspects | Research | Nucleotide sequencing | Properties | Risk factors | DNA sequencing | Autism | Index Medicus
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