المؤلفون: Linghua Wang, Lora Lewis, Robert C. Dauser, William E. Whitehead, Tomonari Suzuki, Shigeru Yamaguchi, Atsushi Natsume, Shunsuke Terasaka, Kyle Chang, Gabor T. Marth, David A. Wheeler, Ryo Nishikawa, Richard A. Gibbs, Matthew D. Burstein, Ching C. Lau, Harshavardhan Doddapaneni, Mark Wang, Adesina Adekunle, Ho Keung Ng, Yi Qiao, Keita Terashima, Suzanne M. Leal, Zongxiao He, Hideo Nakamura, Jiayi Sun, Donna M. Muzny

المصدر: Nature. 511:241-245

مصطلحات موضوعية: Adult, Male, Neuroblastoma RAS viral oncogene homolog, Somatic cell, Biology, medicine.disease_cause, Article, Germline, Young Adult, Germline mutation, Japan, medicine, Humans, Child, Germ-Line Mutation, PI3K/AKT/mTOR pathway, Multidisciplinary, Brain Neoplasms, TOR Serine-Threonine Kinases, Reproducibility of Results, Neoplasms, Germ Cell and Embryonal, Molecular biology, Oncogene Protein v-akt, Androgen receptor, Proto-Oncogene Proteins c-kit, medicine.anatomical_structure, Mutation, ras Proteins, Female, KRAS, Germ cell, Signal Transduction

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8682ccc4f22984c13effd7785523a0eaTest
https://doi.org/10.1038/nature13296Test

المؤلفون: Russ B. Altman, Mark J. Daly, David Goldstein, Jay Shendure, Euan A. Ashley, David R. Adams, John A. Stamatoyannopoulos, Nancy J. Cox, Teri A. Manolio, Len A. Pennacchio, Heidi L. Rehm, Benjamin F. Voight, Donald F. Conrad, Stylianos E. Antonarakis, Daniel G. MacArthur, Leslie G. Biesecker, Gregory M. Cooper, Jeffrey C. Barrett, Chris Gunter, Gonçalo R. Abecasis, David Valle, Suzanne M. Leal, Mark Gerstein, Wendy Winckler, David Dimmock, Joel N. Hirschhorn, Shamil R. Sunyaev

المصدر: Nature
Nature, Vol. 508, No 7497 (2014) pp. 469-76

مصطلحات موضوعية: Computer science, Genomic research, Guidelines as Topic, Computational biology, Disease, Bioinformatics, Article, Translational Research, Biomedical, Human disease, medicine, Humans, Genetic Predisposition to Disease, ddc:576.5, False Positive Reactions, Genes/genetics, Sequence (medicine), Genetic testing, Publishing, Translational Medical Research/standards, Multidisciplinary, medicine.diagnostic_test, Information Dissemination, Genetic Predisposition to Disease/genetics, Genetic Variation, Reproducibility of Results, Pathogenicity, Causality, 3. Good health, Genes, Genetic Variation/genetics, Research Design, Human genome

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b2b32c21969314d32929d037de82b6cdTest
https://doi.org/10.1038/nature13127Test

المؤلفون: Wenqing Fu, Timothy D. O’Connor, Goo Jun, Hyun Min Kang, Goncalo Abecasis, Suzanne M. Leal, Stacey Gabriel, Mark J. Rieder, David Altshuler, Jay Shendure, Deborah A. Nickerson, Michael J. Bamshad, null NHLBI Exome Sequencing Project, Joshua M. Akey

المصدر: Nature

مصطلحات موضوعية: Black People, Human genetic variation, Biology, Polymorphism, Single Nucleotide, Article, White People, Evolution, Molecular, Open Reading Frames, 03 medical and health sciences, Negative selection, 0302 clinical medicine, Genetic variation, Humans, Exome, Allele, Gene, Alleles, Exome sequencing, 030304 developmental biology, Genetics, 0303 health sciences, Multidisciplinary, Genetic Variation, Exons, United States, Europe, Africa, Mutation (genetic algorithm), 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0cc41f577d126b9dfd47e43fb9c42051Test
https://doi.org/10.1038/nature11690Test

المؤلفون: Mark Leppert, Aravinda Chakravarti, Charmaine D.M. Royal, Sarah S. Murray, Renzong Qiu, Panos Deloukas, Renwu Wang, David A. Hinds, Barbara E. Stranger, Xiaoli Tang, Huanming Yang, John W. Belmont, Nigel P. Carter, Huy Nguyen, William Mak, Kazuto Kato, Shiran Pasternak, Chaohua Li, Jeffrey C. Barrett, Lon R. Cardon, Vincent Ferretti, Atsushi Nagashima, Peter E. Chen, Stephen F. Schaffner, Hongbo Fu, Zhu Chen, Siqi Liu, John Burton, Paul Hardenbol, Gudmundur A. Thorisson, Yusuke Nakamura, Mark Griffiths, Imtiaz Yakub, Eiko Suda, Gonçalo R. Abecasis, Carl S. Kashuk, Qingrun Zhang, Yoshimitsu Fukushima, Karen Kennedy, Sarah E. Hunt, Yi Wang, Norio Niikawa, Ichiro Matsuda, Lynn F. Zacharia, Lalitha Krishnan, Zhen Wang, Stéphanie Roumy, C M Clee, David J. Cutler, Albert V. Smith, Lincoln Stein, Simon Myers, Jane Peterson, Jun Zhou, Yozo Ohnishi, Weihua Guan, Matthew Stephens, Xiaoyan Xiong, Julian Maller, Houcan Zhang, Pui-Yan Kwok, Mark S. Guyer, Liuda Ziaugra, Jonathan Witonsky, Matthew C. Jones, Stacey Gabriel, You-Qiang Song, Daochang An, Haifeng Wang, Gilean McVean, Lawrence M. Sung, Zhijian Yao, Yan Shen, Yangfan Liu, George M. Weinstock, Ludmila Pawlikowska, Erica Sodergren, Mark T. Ross, Andrew Boudreau, Toshihiro Tanaka, Thomas D. Willis, Weitao Hu, Kelly A. Frazer, Li Jin, Robert W. Plumb, Paul I.W. de Bakker, Hongbin Zhao, Wei Lin, Sarah Sims, Richard A. Gibbs, Maura Faggart, Michael Feolo, Dennis G. Ballinger, Xun Chu, Lucinda Fulton, Marcos Delgado, Ellen Winchester, Wei Huang, Fuli Yu, Christianne R. Bird, Shaun Purcell, Jessica Roy, Dongmei Cai, Launa M. Galver, Bartha Maria Knoppers, Emmanouil T. Dermitzakis, Gao Yang, Takashi Morizono, Rachel Barry, Kirsten McLay, Daryl J. Thomas, Steve McCarroll, Jonathan Marchini, Daniel J. Richter, Andy Peiffer, Patricia Taillon-Miller, Richard K. Wilson, Stephen Kwok-Wing Tsui, Jian-Bing Fan, Lisa D. Brooks, Laura L. Stuve, Paul L'Archevêque, David M. Evans, Clémentine Sallée, Peter Donnelly, Hong Xue, Hui Zhao, Charles N. Rotimi, Jean E. McEwen, J. Tze Fei Wong, Hao Pan, Alastair Kent, Brendan Blumenstiel, Qing Li, Weiwei Sun, L. Kang, Colin Freeman, John Stewart, Chibuzor Nkwodimmah, Morris W. Foster, Don Powell, Leonardo Bottolo, Raymond D. Miller, Stephen T. Sherry, Francis S. Collins, Donna M. Muzny, Jun Yu, Ike Ajayi, Hua Han, Pardis C. Sabeti, Hongguang Wang, Takahisa Kawaguchi, Tatsuhiko Tsunoda, Guy Bellemare, Zhaohui S. Qin, H. B. Hu, Jane Rogers, Thomas J. Hudson, Mark J. Daly, Andrew P. Morris, Supriya Gupta, Ming Xiao, Patrick Varilly, Nick Patterson, Akihiro Sekine, Chris C. A. Spencer, Jonathan Morrison, Missy Dixon, Paul K.H. Tam, Jian Wang, Matthew Defelice, Susana Eyheramendy, Michael Shi, Yungang He, Ellen Wright Clayton, Richa Saxena, Heather M. Munro, Arthur L. Holden, Yayun Shen, Christine P. Bird, Bruce W. Birren, Itsik Pe'er, David R. Bentley, Lynne V. Nazareth, Pamela Whittaker, Pak C. Sham, Amy L. Camargo, David A. Wheeler, Koji Saeki, Martin Godbout, David Altshuler, Liang Xu, Ying Wang, David Willey, Alexandre Montpetit, Shin Lin, Michael S. Phillips, Changqing Zeng, Clement Adebamowo, John C. Wallenburg, Mark S. Chee, Ben Fry, Erich Stahl, Melissa Parkin, Rhian Gwilliam, Andrei Verner, Patrick J. Nailer, Lap-Chee Tsui, Bo Zhang, Fanny Chagnon, David R. Cox, Jack Spiegel, Jamie Moore, Vivian Ota Wang, Patricia A. Marshall, Takuya Kitamoto, Bruce S. Weir, Darryl Macer, Geraldine M. Clarke, Robert C. Onofrio, Mary M.Y. Waye, Wei Wang, Suzanne M. Leal, James C. Mullikin, Toyin Aniagwu, Daniel C. Koboldt, Mary Goyette, Martin Leboeuf, Isaac F. Adewole, Ruth Jamieson, Arnold Oliphant, Jessica Watkin, Jean François Olivier

المصدر: Europe PubMed Central

مصطلحات موضوعية: Linkage disequilibrium, Biology, DNA, Mitochondrial, Polymorphism, Single Nucleotide, Article, Linkage Disequilibrium, Structural variation, Gene Frequency, Humans, Selection, Genetic, International HapMap Project, Genetic association, Haplotypes - genetics, Recombination, Genetic, Genetics, Chromosomes, Human, Y, Multidisciplinary, Genome, Human, DNA, Mitochondrial - genetics, Haplotype, Tag SNP, Polymorphism, Single Nucleotide - genetics, Haplotypes, Human genome, Haplotype estimation, Chromosomes, Human, Y - genetics

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f411640f26dad2af5d9b0f5040008937Test
https://doi.org/10.1038/nature04226Test

المؤلفون: Vladimir Vacic, Paul A. Insel, Shane McCarthy, Aine Peoples, Jon McClellan, Derek W. Morris, Deborah L. Levy, Maria Karayiorgou, Roser Corominas, Michael Gill, Seungtai Yoon, Aiden Corvin, Fiona Murray, Dheeraj Malhotra, Jonathan Sebat, Abhishek Bhandari, Suzanne M. Leal, Olga Krastoshevsky, Mary Claire King, Elliot S. Gershon, Verãnica Larach-Walters, Hsun Hua Chou, Verena Krause, Marie L. Dell’ Aquila, David K. Welsh, Lynn E. DeLisi, John R. Kelsoe, Vladimir Makarov, Lilia M. Iakoucheva, David Craig

المصدر: Nature
Vacic, V; McCarthy, S; Malhotra, D; Murray, F; Chou, HH; Peoples, A; et al.(2011). Duplications of the neuropeptide receptor gene VIPR2 confer significant risk for schizophrenia. Nature, 471(7339), 499-503. doi: 10.1038/nature09884. UC San Diego: Retrieved from: http://www.escholarship.org/uc/item/74v6h1q8Test
Nature, vol 471, iss 7339

مصطلحات موضوعية: Male, Transcription, Genetic, Vasoactive intestinal peptide, Gene Dosage, Inheritance Patterns, Genome-wide association study, Bioinformatics, Cohort Studies, 0302 clinical medicine, Receptors, Cyclic AMP, Copy-number variation, Genetics, 0303 health sciences, Multidisciplinary, Vasoactive intestinal peptide receptor, Serious Mental Illness, 3. Good health, Pedigree, Mental Health, Receptors, Vasoactive Intestinal Peptide, Type II, Pair 7, Female, Transcription, Chromosomes, Human, Pair 7, VIPR2, Human, Vasoactive Intestinal Peptide, Signal Transduction, Psychosis, DNA Copy Number Variations, General Science & Technology, Duplicate, Biology, Gene dosage, Type II, Genetic determinism, Chromosomes, Article, Cell Line, 03 medical and health sciences, Genetic, Genes, Duplicate, mental disorders, medicine, Humans, Genetic Predisposition to Disease, 030304 developmental biology, Human Genome, Reproducibility of Results, medicine.disease, Brain Disorders, Genes, Schizophrenia, 030217 neurology & neurosurgery, Genome-Wide Association Study

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::857ea649b3811ae7528550174af0d847Test
https://pubmed.ncbi.nlm.nih.gov/21430769Test

المؤلفون: Wenqing Fu, Timothy D. O’Connor, Goo Jun, Hyun Min Kang, Goncalo Abecasis, Suzanne M. Leal, Stacey Gabriel, Mark J. Rieder, David Altshuler, Jay Shendure, Deborah A. Nickerson, Michael J. Bamshad, NHLBI Exome Sequencing Project, Joshua M. Akey

المصدر: Nature. 495:270-270

مصطلحات موضوعية: Protein coding, Multidisciplinary, Evolutionary biology, Biology, Genome, Exome sequencing

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::5252fc31afa0c4136ddb16eefb225ee9Test
https://doi.org/10.1038/nature12022Test

المؤلفون: Abhishek Bhandari, Marie L. Dell’ Aquila, Aiden Corvin, Suzanne M. Leal, Maria Karayiorgou, Shane A. McCarthy, Roser Corominas, Lynn E. DeLisi, Jonathan Sebat, Dheeraj Malhotra, Deborah L. Levy, David K. Welsh, Verena Krause, John R. Kelsoe, Olga Krastoshevsky, Derek W. Morris, Vladimir Makarov, Lilia M. Iakoucheva, Paul A. Insel, Michael Gill, Elliot S. Gershon, Vladimir Vacic, Seungtai Yoon, Fiona Murray, Hsun Hua Chou, David Craig, Veronica Larach-Walters, Aine Peoples, Jon McClellan, Mary Claire King

المصدر: Nature. 474:114-114

مصطلحات موضوعية: Genetics, Multidisciplinary, Schizophrenia (object-oriented programming), Neuropeptide receptor, Significant risk, Biology, Gene, VIPR2

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::b37a17d05eb16a9a546c976513808fe3Test
https://doi.org/10.1038/nature10088Test