المؤلفون: Fehrmann, Rudolf SN, Jansen, Ritsert C, Veldink, Jan H, Westra, Harm-Jan, Arends, Danny, Bonder, Marc Jan, Fu, Jingyuan, Deelen, Patrick, Groen, Harry JM, Smolonska, Asia, Weersma, Rinse K, Hofstra, Robert MW, Buurman, Wim A, Rensen, Sander, Wolfs, Marcel GM, Platteel, Mathieu, Zhernakova, Alexandra, Elbers, Clara C, Festen, Eleanora M, Trynka, Gosia, Hofker, Marten H, Saris, Christiaan GJ, Ophoff, Roel A, van den Berg, Leonard H, van Heel, David A, Wijmenga, Cisca, Te Meerman, Gerard J, Franke, Lude

المصدر: PLoS genetics. 7(8)

مصطلحات موضوعية: Monocytes, Humans, HLA Antigens, Chromosome Mapping, Gene Expression Profiling, Gene Expression Regulation, Genotype, Phenotype, Polymorphism, Single Nucleotide, Quantitative Trait Loci, Genetic Variation, Genome-Wide Association Study, Polymorphism, Single Nucleotide, Genetics, Developmental Biology

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URL الوصول: https://escholarship.org/uc/item/5xn4t8nk

المؤلفون: Dubois, Patrick CA, Trynka, Gosia, Franke, Lude, Hunt, Karen A, Romanos, Jihane, Curtotti, Alessandra, Zhernakova, Alexandra, Heap, Graham AR, Ádány, Róza, Aromaa, Arpo, Bardella, Maria Teresa, van den Berg, Leonard H, Bockett, Nicholas A, de la Concha, Emilio G, Dema, Bárbara, Fehrmann, Rudolf SN, Fernández-Arquero, Miguel, Fiatal, Szilvia, Grandone, Elvira, Green, Peter M, Groen, Harry JM, Gwilliam, Rhian, Houwen, Roderick HJ, Hunt, Sarah E, Kaukinen, Katri, Kelleher, Dermot, Korponay-Szabo, Ilma, Kurppa, Kalle, MacMathuna, Padraic, Mäki, Markku, Mazzilli, Maria Cristina, McCann, Owen T, Mearin, M Luisa, Mein, Charles A, Mirza, Muddassar M, Mistry, Vanisha, Mora, Barbara, Morley, Katherine I, Mulder, Chris J, Murray, Joseph A, Núñez, Concepción, Oosterom, Elvira, Ophoff, Roel A, Polanco, Isabel, Peltonen, Leena, Platteel, Mathieu, Rybak, Anna, Salomaa, Veikko, Schweizer, Joachim J, Sperandeo, Maria Pia, Tack, Greetje J, Turner, Graham, Veldink, Jan H, Verbeek, Wieke HM, Weersma, Rinse K, Wolters, Victorien M, Urcelay, Elena, Cukrowska, Bozena, Greco, Luigi, Neuhausen, Susan L, McManus, Ross, Barisani, Donatella, Deloukas, Panos, Barrett, Jeffrey C, Saavalainen, Paivi, Wijmenga, Cisca, van Heel, David A

المصدر: Nature Genetics. 42(4)

مصطلحات موضوعية: Biotechnology, Human Genome, Genetics, Digestive Diseases, 2.1 Biological and endogenous factors, Aetiology, Case-Control Studies, Celiac Disease, Gene Expression, Gene Expression Profiling, Genes, MHC Class I, Genome-Wide Association Study, Humans, Meta-Analysis as Topic, Polymorphism, Single Nucleotide, Risk, Biological Sciences, Medical and Health Sciences, Developmental Biology

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/54d9w7gw

المؤلفون: Niedoszytko, Marek, Bruinenberg, Marcel, de Monchy, Jan, Wijmenga, Cisca, Platteel, Mathieu, Jassem, Ewa, Oude Elberink, Joanne N.G.

المصدر: In The Journal of Allergy and Clinical Immunology 2010 125(5):1092-1097

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المؤلفون: Li, Mingkun, Rothwell, Rebecca, Vermaat, Martijn, Wachsmuth, Manja, Schröder, Roland, Laros, Jeroen F J, Van Oven, Mannis, De Bakker, Paul I W, Bovenberg, Jasper A., Van Duijn, Cornelia M., Van Ommen, Gert Jan B, Slagboom, P. Eline, Swertz, Morris A., Wijmenga, Cisca, Kayser, Manfred, Boomsma, Dorret I., Zöllner, Sebastian, De Knijff, Peter, Stoneking, Mark, De Craen, Anton J M, Beekman, Marian, Hofman, Albert, Willemsen, Gonneke, Wolffenbuttel, Bruce, Platteel, Mathieu, Du, Yuanping, Chen, Ruoyan, Cao, Hongzhi, Cao, Rui, Sun, Yushen, Cao, Jeremy Sujie, Van Dijk, Freerk, Neerincx, Pieter B T, Deelen, Patrick, Dijkstra, Martijn, Byelas, George, Kanterakis, Alexandros, Bot, Jan, Ye, Kai, Lameijer, Eric Wubbo, Den Dunnen, Johan T., Karssen, Lennart C., Van Leeuwen, Elisa M., Amin, Najaf, Koval, Vyacheslav, Rivadeneira, Fernando, Estrada, Karol, Hehir-Kwa, Jayne Y., De Ligt, Joep, Abdellaoui, Abdel, Hottenga, Jouke Jan, Kattenberg, V. Mathijs, Van Enckevort, David, Mei, Hailiang, Santcroos, Mark, Van Schaik, Barbera D C, Handsaker, Robert E., McCarroll, Steven A., Eichler, Evan E., Ko, Arthur, Sudmant, Peter, Francioli, Laurent C., Kloosterman, Wigard P., Nijman, Isaac J., Guryev, Victor

المساهمون: Genetic Identification, Epidemiology, Groningen Institute for Gastro Intestinal Genetics and Immunology (3GI), Biological Psychology, EMGO+ - Quality of Care, Amsterdam Neuroscience - Mood, Anxiety, Psychosis, Stress & Sleep

المصدر: Li, M, Rothwell, R, Vermaat, M, Wachsmuth, M, Schröder, R, Laros, J F J, van Oven, M, Bakker, P I W, Bovenberg, J A, van Duijn, C M, van Ommen, G J B, Slagboom, P E, Swertz, M A, Wijmenga, C, Kayser, M, Boomsma, D I, Zöllner, S, de Knijff, P & Stoneking, M 2016, ' Transmission of human mtDNA heteroplasmy in the Genome of the Netherlands families: support for a variable-size bottleneck ', Genome Research, vol. 26, no. 4, pp. 417-426 . https://doi.org/10.1101/gr.203216.115
Genome Research, 26(4), 417-426
Genome Research, 26(4), 417-426. Cold Spring Harbor Laboratory Press
Genome Research, 26(4), 417-426. COLD SPRING HARBOR LAB PRESS, PUBLICATIONS DEPT
Genome Research, 26(4), 417. Cold Spring Harbor Laboratory Press

مصطلحات موضوعية: Male, Netherlands Twin Register (NTR), 0301 basic medicine, LEVEL, Inheritance Patterns, Twins, Twin Study, POINT MUTATIONS, Genome, Gene Frequency, Paternal mtDNA transmission, Genetics(clinical), Non-U.S. Gov't, Genetics (clinical), Netherlands, Genetics, Research Support, Non-U.S. Gov't, PURIFYING SELECTION, MITOCHONDRIAL-DNA MUTATIONS, RANDOM GENETIC DRIFT, HUMAN-DISEASE, Heteroplasmy, Female, Mitochondrial DNA, TISSUES, OOCYTES, Biology, Research Support, INHERITANCE, DNA, Mitochondrial, White People, Genetic Heterogeneity, 03 medical and health sciences, SDG 3 - Good Health and Well-being, Journal Article, Humans, Family, Selection, Genetic, Allele, Allele frequency, Alleles, Models, Statistical, Polymorphism, Genetic, Models, Genetic, Research, Twin study, Minor allele frequency, 030104 developmental biology, Mutation, MELAS SYNDROME

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URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::34488ab6e37c92f6acc40434706a049a
https://doi.org/10.1101/gr.203216.115

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المؤلفون: Hehir-Kwa, Jayne, Marschall, Tobias, Kloosterman, Wigard, Francioli, Laurent, Baaijens, Jasmijn, Dijkstra, Louis, Abdellaoui, Abdel, Koval, Vyacheslav, Thung, (), Djie Tjwan, Wardenaar, René, Renkens, Ivo, Coe, Bradley, Deelen, Patrick, Ligt, Joep, Lameijer, Eric-Wubbo, Dijk, Freerk, Hormozdiari, Fereydoun, Uitterlinden, André, Duijn, Cornelia, Eichler, Evan, Bakker, Paul, Swertz, Morris, Wijmenga, Cisca, Ommen, Gert-Jan, Slagboom, Eline, Boomsma, Dorret, Schönhuth, Alexander, Ye, Kai, Guryev, Victor, Bovenberg, Jasper, Craen, Anton, Beekman, Marian, Hofman, Albert, Willemsen, Gonneke, Wolffenbuttel, Bruce, Platteel, Mathieu, Du, Yuanping, Chen, Ruoyan, Cao, Hongzhi, Cao, Rui, Sun, Yushen, Cao, Jeremy Sujie, Neerincx, Pieter, Dijkstra, Martijn, Byelas, George, Kanterakis, Alexandros, Bot, Jan, Vermaat, Martijn, Laros, Jeroen, Dunnen, Johan, Knijff, Peter, Karssen, Lennart, van Leeuwen, Elisa, Amin, Najaf, Rivadeneira, Fernando, Estrada, Karol, Hottenga, Jouke-Jan, Kattenberg, Mathijs, Enckevort, David, Mei, Hailiang, Santcroos, Mark, Schaik, Barbera, Handsaker, Robert, McCarroll, Steven, Ko, Arthur, Sudmant, Peter, Nijman, Isaac

المساهمون: Internal Medicine, Epidemiology, Biological Psychology, Amsterdam Neuroscience - Mood, Anxiety, Psychosis, Stress & Sleep, Bioinformatics, Groningen Institute for Gastro Intestinal Genetics and Immunology (3GI), Stem Cell Aging Leukemia and Lymphoma (SALL), Groningen Research Institute for Asthma and COPD (GRIAC), Adult Psychiatry, Epidemiology and Data Science, APH - Methodology, AII - Inflammatory diseases, AII - Cancer immunology, CCA - Cancer biology and immunology, APH - Personalized Medicine, ACS - Amsterdam Cardiovascular Sciences, AII - Amsterdam institute for Infection and Immunity, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, ANS - Amsterdam Neuroscience, CCA -Cancer Center Amsterdam

المصدر: Nature Communications, 7:12989. Nature Publishing Group
Nature Communications
Nature Communications, Vol 7, Iss 1, Pp 1-10 (2016)
Hehir-Kwa, J Y, Marschall, T, Kloosterman, W P, Francioli, L C, Baaijens, J A, Dijkstra, L J, Abdellaoui, A, Koval, V, Thung, D T, Wardenaar, R, Renkens, I, Coe, B P, Deelen, P, de Ligt, J, Lameijer, E W, Dijk, F, Hormozdiari, F, Uitterlinden, A G, van Duijn, C M, Eichler, E E, Bakker, P I W, Swertz, M A, Wijmenga, C, van Ommen, G J B, Slagboom, P E, Boomsma, D I, Schönhuth, A, Ye, K & Guryev, V 2016, ' A high-quality human reference panel reveals the complexity and distribution of genomic structural variants ', Nature Communications, vol. 7, 12989 . https://doi.org/10.1038/ncomms12989
Nature Communications, 7
Nature communications, vol 7, iss 1
Nature communications, 7:12989. Nature Publishing Group
Nature Communications [E], 7. Nature Publishing Group

مصطلحات موضوعية: 0301 basic medicine, Netherlands Twin Register (NTR), Chemistry(all), IMPACT, General Physics and Astronomy, SUSCEPTIBILITY, Genome informatics, Biochemistry, Genome, Polymerase Chain Reaction, Linkage Disequilibrium, DISEASE, INDEL Mutation, IMPUTATION, 2.1 Biological and endogenous factors, Copy-number variation, Aetiology, Netherlands, Genetics, Multidisciplinary, Genomics, Single Nucleotide, ASSOCIATION, Genome of the Netherlands Consortium, Sequence Analysis, Algorithms, Human, Biotechnology, Genotype, DATABASE, Science, Genomic Structural Variation, Computational biology, Physics and Astronomy(all), Biology, Polymorphism, Single Nucleotide, General Biochemistry, Genetics and Molecular Biology, Article, Chromosomes, GENETIC ARCHITECTURE, Structural variation, 03 medical and health sciences, Journal Article, Humans, Polymorphism, COPY NUMBER VARIATION, Whole genome sequencing, Biochemistry, Genetics and Molecular Biology(all), Genome, Human, Sequence Analysis, RNA, DELETION, Human Genome, Computational Biology, General Chemistry, Sequence Analysis, DNA, DNA, 030104 developmental biology, TRIOS, Haplotypes, Next-generation sequencing, RNA, Human genome, Generic health relevance, Imputation (genetics), Gene Deletion, Software, Genetics and Molecular Biology(all)

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URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0a94368ffbaf67544d51e423204c9e3b
https://pub.uni-bielefeld.de/record/2941790

المؤلفون: Kloosterman, Wigard P., Francioli, Laurent C., Hormozdiari, Fereydoun, Marschall, Tobias, Hehir-Kwa, Jayne Y., Abdellaoui, Abdel, Lameijer, Eric Wubbo, Moed, Matthijs H., Koval, Vyacheslav, Renkens, Ivo, Van Roosmalen, Markus J., Arp, Pascal, Karssen, Lennart C., Coe, Bradley P., Handsaker, Robert E., Suchiman, Eka D., Cuppen, Edwin, Thung, Djie Tjwan, McVey, Mitch, Wendl, Michael C., Uitterlinden, André, Van Duijn, Cornelia M., Swertz, Morris A., Wijmenga, Cisca, Van Ommen, Gert Jan B, Slagboom, P. Eline, Boomsma, Dorret I., Schönhuth, Alexander, Eichler, Evan E., De Bakker, Paul I W, Ye, Kai, Guryev, Victor, Bovenberg, Jasper A., De Craen, Anton J M, Beekman, Marian, Hofman, Albert, Willemsen, Gonneke, Wolffenbuttel, Bruce, Platteel, Mathieu, Du, Yuanping, Chen, Ruoyan, Cao, Hongzhi, Cao, Rui, Sun, Yushen, Cao, Jeremy Sujie, Van Dijk, Freerk, Neerincx, Pieter B T, Deelen, Patrick, Dijkstra, Martijn, Byelas, George, Kanterakis, Alexandros, Bot, Jan, Vermaat, Martijn, Laros, Jeroen F J, Den Dunnen, Johan T., De Knijff, Peter, Van Leeuwen, Elisa M., Amin, Najaf, Rivadeneira, Fernando, Estrada, Karol, De Ligt, Joep, Hottenga, Jouke Jan, Kattenberg, V. Mathijs, Van Enckevort, David, Mei, Hailiang, Santcroos, Mark, Van Schaik, Barbera D C, McCarroll, Steven A., Ko, Arthur, Sudmant, Peter, Nijman, Isaac J.

المساهمون: Adult Psychiatry, Epidemiology and Data Science, ACS - Amsterdam Cardiovascular Sciences, AII - Amsterdam institute for Infection and Immunity, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, ANS - Amsterdam Neuroscience, CCA -Cancer Center Amsterdam, Biological Psychology, Neuroscience Campus Amsterdam - Neurobiology of Mental Health, Internal Medicine, Epidemiology, Groningen Institute for Gastro Intestinal Genetics and Immunology (3GI), Stem Cell Aging Leukemia and Lymphoma (SALL), Groningen Research Institute for Asthma and COPD (GRIAC)

المصدر: Genome research, 25(6), 792-801. Cold Spring Harbor Laboratory Press
Genome Research, 25, 6, pp. 792-801
Genome Research, 25(6), 792-801
Genome Research, 25(6), 792-801. Cold Spring Harbor Laboratory Press
Kloosterman, W P, Francioli, L C, Hormozdiari, F, Marschall, T, Hehir-Kwa, J Y, Abdellaoui, A, Lameijer, E W, Moed, M H, Koval, V, Renkens, I, van Roosmalen, M J, Arp, P, Karssen, L C, Coe, B P, Handsaker, R E, Suchiman, H E D, Cuppen, E, Tjwan Thung, D, McVey, M, Wendl, M C, Uitterlinden, A G, van Duijn, C M, Swertz, M A, Wijmenga, C, van Ommen, G J B, Slagboom, P E, Boomsma, D I, Schönhuth, A, Eichler, E E, Bakker, P I W, Ye, K & Guryev, V 2015, ' Characteristics of de novo structural changes in the human genome ', Genome Research, vol. 25, no. 6, pp. 792-801 . https://doi.org/10.1101/gr.185041.114
Genome Research, 25(6), 792. Cold Spring Harbor Laboratory Press
Genome research, vol 25, iss 6
Genome Research, 25, 792-801
Genome Research, 25(6), 792-801. COLD SPRING HARBOR LAB PRESS, PUBLICATIONS DEPT

مصطلحات موضوعية: Male, Netherlands Twin Register (NTR), Mutation rate, INTELLECTUAL DISABILITY, Retrotransposon, Genome of Netherlands Consortium, VARIANTS, Medical and Health Sciences, Genome, 0302 clinical medicine, INDEL Mutation, Mutation Rate, Genetics(clinical), Copy-number variation, Genetics (clinical), Genetics, 0303 health sciences, education.field_of_study, food and beverages, Genomics, Single Nucleotide, Biological Sciences, Female, Sequence Analysis, Human, Retroelements, SEQUENCING DATA, Bioinformatics, Molecular Sequence Data, Population, MUTATION-RATES, POPULATION-SCALE, Biology, Polymorphism, Single Nucleotide, 03 medical and health sciences, SDG 3 - Good Health and Well-being, Humans, Amino Acid Sequence, Polymorphism, Indel, education, Alleles, 030304 developmental biology, COPY NUMBER VARIATION, INDIVIDUAL HUMAN, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], IDENTIFICATION, Genome, Human, Research, Human Genome, Genetic Variation, Sequence Analysis, DNA, DNA, GENE, Haplotypes, DISCOVERY, Human genome, Sequence Alignment, 030217 neurology & neurosurgery

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URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9251dc3de0257e9c1afade755cd46fdf
https://pure.amc.nl/en/publications/characteristics-of-de-novo-structural-changes-in-the-human-genome(195fa0c7-190d-4ec8-902c-47dd8d184f40).html