Zobrazeno 1 - 10
of 40
pro vyhledávání: '"Claire Churchhouse"'
Autor:
Ole Kristian Drange, Olav Bjerkehagen Smeland, Alexey A. Shadrin, Per Ivar Finseth, Aree Witoelar, Oleksandr Frei, Psychiatric Genomics Consortium Bipolar Disorder Working Group, Yunpeng Wang, Sahar Hassani, Srdjan Djurovic, Anders M. Dale, Ole A. Andreassen, Eli A Stahl, Gerome Breen, Andreas J Forstner, Andrew McQuillin, Stephan Ripke, Vassily Trubetskoy, Manuel Mattheisen, Jonathan R I Coleman, Heìleìna A Gaspar, Christiaan A de Leeuw, Stacy Steinberg, Jennifer M Whitehead Pavlides, Maciej Trzaskowski, Tune H Pers, Peter A Holmans, Liam Abbott, Esben Agerbo, Huda Akil, Diego Albani, Ney Alliey-Rodriguez, Thomas D Als, Adebayo Anjorin, Verneri Antilla, Swapnil Awasthi, Judith A Badner, Marie Bækvad-Hansen, Jack D Barchas, Nicholas Bass, Michael Bauer, Richard Belliveau, Sarah E Bergen, Carsten Bøcker Pedersen, Erlend Bøen, Marco Boks, James Boocock, Monika Budde, William Bunney, Margit Burmeister, Jonas Bybjerg-Grauholm, William Byerley, Miquel Casas, Felecia Cerrato, Pablo Cervantes, Kimberly Chambert, Alexander W Charney, Danfeng Chen, Claire Churchhouse, Toni-Kim Clarke, William Coryell, David W Craig, Cristiana Cruceanu, David Curtis, Piotr M Czerski, Anders M Dale, Simone de Jong, Franziska Degenhardt, Jurgen Del-Favero, J Raymond DePaulo, Amanda L Dobbyn, Ashley Dumont, Torbjørn Elvsåshagen, Valentina Escott-Price, Chun Chieh Fan, Sascha B Fischer, Matthew Flickinger, Tatiana M Foroud, Liz Forty, Josef Frank, Christine Fraser, Nelson B Freimer, Louise Friseìn, Katrin Gade, Diane Gage, Julie Garnham, Claudia Giambartolomei, Marianne Giørtz Pedersen, Jaqueline Goldstein, Scott D Gordon, Katherine Gordon-Smith, Elaine K Green, Melissa J Green, Tiffany A Greenwood, Jakob Grove, Weihua Guan, Joseì Guzman Parra, Marian L Hamshere, Martin Hautzinger, Urs Heilbronner, Stefan Herms, Maria Hipolito, Per Hoffmann, Dominic Holland, Laura Huckins, Steìphane Jamain, Jessica S Johnson, Anders Jureìus, Radhika Kandaswamy, Robert Karlsson, James L Kennedy, Sarah Kittel-Schneider, Sarah V Knott, James A Knowles, Manolis Kogevinas, Anna C Koller, Ralph Kupka, Catharina Lavebratt, Jacob Lawrence, William B Lawson, Markus Leber, Phil H Lee, Shawn E Levy, Jun Z Li, Chunyu Liu, Susanne Lucae, Anna Maaser, Donald J MacIntyre, Pamela B Mahon, Wolfgang Maier, Lina Martinsson, Steve McCarroll, Peter McGuffin, Melvin G McInnis, James D McKay, Helena Medeiros, Sarah E Medland, Fan Meng, Lili Milani, Grant W Montgomery, Derek W Morris, Thomas W Mühleisen, Niamh Mullins, Hoang Nguyen, Caroline M Nievergelt, Annelie Nordin Adolfsson, Evaristus A Nwulia, Claire O’Donovan, Loes M Olde Loohuis, Anil P S Ori, Lilijana Oruc, Urban Ösby, Roy H Perlis, Amy Perry, Andrea Pfennig, James B Potash, Shaun M Purcell, Eline J Regeer, Andreas Reif, Ceìline S Reinbold, John P Rice, Fabio Rivas, Margarita Rivera, Panos Roussos, Douglas M Ruderfer, Euijung Ryu, Cristina Saìnchez-Mora, Alan F Schatzberg, William A Scheftner, Nicholas J Schork, Cynthia Shannon Weickert, Tatyana Shehktman, Paul D Shilling, Engilbert Sigurdsson, Claire Slaney, Olav B Smeland, Janet L Sobell, Christine Søholm Hansen, Anne T Spijker, David St Clair, Michael Steffens, John S Strauss, Fabian Streit, Jana Strohmaier, Szabolcs Szelinger, Robert C Thompson, Thorgeir E Thorgeirsson, Jens Treutlein, Helmut Vedder, Weiqing Wang, Stanley J Watson, Thomas W Weickert, Stephanie H Witt, Simon Xi, Wei Xu, Allan H Young, Peter Zandi, Peng Zhang, Sebastian Zollner, Rolf Adolfsson, Ingrid Agartz, Martin Alda, Lena Backlund, Bernhard T Baune, Frank Bellivier, Wade H Berrettini, Joanna M Biernacka, Douglas H R Blackwood, Michael Boehnke, Anders D Børglum, Aiden Corvin, Nicholas Craddock, Mark J Daly, Udo Dannlowski, ToÞnu Esko, Bruno Etain, Mark Frye, Janice M Fullerton, Elliot S Gershon, Michael Gill, Fernando Goes, Maria Grigoroiu-Serbanescu, Joanna Hauser, David M Hougaard, Christina M Hultman, Ian Jones, Lisa A Jones, Reneì S Kahn, George Kirov, Mikael Landeìn, Marion Leboyer, Cathryn M Lewis, Qingqin S Li, Jolanta Lissowska, Nicholas G Martin, Fermin Mayoral, Susan L McElroy, Andrew M McIntosh, Francis J McMahon, Ingrid Melle, Andres Metspalu, Philip B Mitchell, Gunnar Morken, Ole Mors, Preben Bo Mortensen, Bertram Müller-Myhsok, Richard M Myers, Benjamin M Neale, Vishwajit Nimgaonkar, Merete Nordentoft, Markus M Nöthen, Michael C O’Donovan, Ketil J Oedegaard, Michael J Owen, Sara A Paciga, Carlos Pato, Michele T Pato, Danielle Posthuma, Josep Antoni Ramos-Quiroga, Marta Ribaseìs, Marcella Rietschel, Guy A Rouleau, Martin Schalling, Peter R Schofield, Thomas G Schulze, Alessandro Serretti, Jordan W Smoller, Hreinn Stefansson, Kari Stefansson, Eystein Stordal, Patrick F Sullivan, Gustavo Turecki, Arne E Vaaler, Eduard Vieta, John B Vincent, Thomas Werge, John I Nurnberger, Naomi R Wray, Arianna Di Florio, Howard J Edenberg, Sven Cichon, Roel A Ophoff, Laura J Scott, Ole A Andreassen, John Kelsoe, Pamela Sklar
Publikováno v:
Frontiers in Neuroscience, Vol 13 (2019)
Background: Alzheimer’s disease (AD) and bipolar disorder (BIP) are complex traits influenced by numerous common genetic variants, most of which remain to be detected. Clinical and epidemiological evidence suggest that AD and BIP are related. Howev
Externí odkaz:
https://doaj.org/article/86fd88785b5745c79b1fba01a8b863d5
Autor:
Yu-Han H Hsu, Claire Churchhouse, Tune H Pers, Josep M Mercader, Andres Metspalu, Krista Fischer, Kristen Fortney, Eric K Morgen, Clicerio Gonzalez, Maria E Gonzalez, Tonu Esko, Joel N Hirschhorn
Publikováno v:
PLoS Computational Biology, Vol 15, Iss 1, p e1006734 (2019)
Metabolomics is a powerful approach for discovering biomarkers and for characterizing the biochemical consequences of genetic variation. While untargeted metabolite profiling can measure thousands of signals in a single experiment, many biologically
Externí odkaz:
https://doaj.org/article/6cc9432e396f4403b8372db4ba795439
Autor:
Duncan S. Palmer, Wei Zhou, Liam Abbott, Emilie M. Wigdor, Nikolas Baya, Claire Churchhouse, Cotton Seed, Tim Poterba, Daniel King, Masahiro Kanai, Alex Bloemendal, Benjamin M. Neale
Publikováno v:
Science. 379:1341-1348
Classical statistical genetics theory defines dominance as any deviation from a purely additive, or dosage, effect of a genotype on a trait, which is known as the dominance deviation. Dominance is well documented in plant and animal breeding. Outside
Autor:
Duncan S. Palmer, Daniel P. Howrigan, Sinéad B. Chapman, Rolf Adolfsson, Nick Bass, Douglas Blackwood, Marco P. M. Boks, Chia-Yen Chen, Claire Churchhouse, Aiden P. Corvin, Nicholas Craddock, David Curtis, Arianna Di Florio, Faith Dickerson, Nelson B. Freimer, Fernando S. Goes, Xiaoming Jia, Ian Jones, Lisa Jones, Lina Jonsson, Rene S. Kahn, Mikael Landén, Adam E. Locke, Andrew M. McIntosh, Andrew McQuillin, Derek W. Morris, Michael C. O’Donovan, Roel A. Ophoff, Michael J. Owen, Nancy L. Pedersen, Danielle Posthuma, Andreas Reif, Neil Risch, Catherine Schaefer, Laura Scott, Tarjinder Singh, Jordan W. Smoller, Matthew Solomonson, David St. Clair, Eli A. Stahl, Annabel Vreeker, James T. R. Walters, Weiqing Wang, Nicholas A. Watts, Robert Yolken, Peter P. Zandi, Benjamin M. Neale
Publikováno v:
Nature genetics, 54(5), 541-547. Nature Publishing Group
Nature genetics, vol 54, iss 5
Nature Genetics, 54(5), 541-547. Nature Publishing Group
Palmer, D S, Howrigan, D P, Chapman, S B, Adolfsson, R, Bass, N, Blackwood, D, Boks, M P M, Chen, C-Y, Churchhouse, C, Corvin, A P, Craddock, N, Curtis, D, di Florio, A, Dickerson, F, Freimer, N B, Goes, F S, Jia, X, Jones, I, Jones, L, Jonsson, L, Kahn, R S, Landén, M, Locke, A E, McIntosh, A M, McQuillin, A, Morris, D W, O’Donovan, M C, Ophoff, R A, Owen, M J, Pedersen, N L, Posthuma, D, Reif, A, Risch, N, Schaefer, C, Scott, L, Singh, T, Smoller, J W, Solomonson, M, Clair, D S, Stahl, E A, Vreeker, A, Walters, J T R, Wang, W, Watts, N A, Yolken, R, Zandi, P P & Neale, B M 2022, ' Exome sequencing in bipolar disorder identifies AKAP11 as a risk gene shared with schizophrenia ', Nature Genetics, vol. 54, no. 5, pp. 541-547 . https://doi.org/10.1038/s41588-022-01034-x
Nat Genet
Palmer, D S, Howrigan, D P, Chapman, S B, Adolfsson, R, Bass, N, Blackwood, D, Boks, M P M, Chen, C Y, Churchhouse, C, Corvin, A P, Craddock, N, Curtis, D, Di Florio, A, Dickerson, F, Freimer, N B, Goes, F S, Jia, X, Jones, I, Jones, L, Jonsson, L, Kahn, R S, Landén, M, Locke, A E, McIntosh, A M, McQuillin, A, Morris, D W, O’Donovan, M C, Ophoff, R A, Owen, M J, Pedersen, N L, Posthuma, D, Reif, A, Risch, N, Schaefer, C, Scott, L, Singh, T, Smoller, J W, Solomonson, M, Clair, D S, Stahl, E A, Vreeker, A, Walters, J T R, Wang, W, Watts, N A, Yolken, R, Zandi, P P & Neale, B M 2022, ' Exome sequencing in bipolar disorder identifies AKAP11 as a risk gene shared with schizophrenia ', Nature genetics, vol. 54, no. 5, pp. 541-547 . https://doi.org/10.1038/s41588-022-01034-x
Nature genetics, vol 54, iss 5
Nature Genetics, 54(5), 541-547. Nature Publishing Group
Palmer, D S, Howrigan, D P, Chapman, S B, Adolfsson, R, Bass, N, Blackwood, D, Boks, M P M, Chen, C-Y, Churchhouse, C, Corvin, A P, Craddock, N, Curtis, D, di Florio, A, Dickerson, F, Freimer, N B, Goes, F S, Jia, X, Jones, I, Jones, L, Jonsson, L, Kahn, R S, Landén, M, Locke, A E, McIntosh, A M, McQuillin, A, Morris, D W, O’Donovan, M C, Ophoff, R A, Owen, M J, Pedersen, N L, Posthuma, D, Reif, A, Risch, N, Schaefer, C, Scott, L, Singh, T, Smoller, J W, Solomonson, M, Clair, D S, Stahl, E A, Vreeker, A, Walters, J T R, Wang, W, Watts, N A, Yolken, R, Zandi, P P & Neale, B M 2022, ' Exome sequencing in bipolar disorder identifies AKAP11 as a risk gene shared with schizophrenia ', Nature Genetics, vol. 54, no. 5, pp. 541-547 . https://doi.org/10.1038/s41588-022-01034-x
Nat Genet
Palmer, D S, Howrigan, D P, Chapman, S B, Adolfsson, R, Bass, N, Blackwood, D, Boks, M P M, Chen, C Y, Churchhouse, C, Corvin, A P, Craddock, N, Curtis, D, Di Florio, A, Dickerson, F, Freimer, N B, Goes, F S, Jia, X, Jones, I, Jones, L, Jonsson, L, Kahn, R S, Landén, M, Locke, A E, McIntosh, A M, McQuillin, A, Morris, D W, O’Donovan, M C, Ophoff, R A, Owen, M J, Pedersen, N L, Posthuma, D, Reif, A, Risch, N, Schaefer, C, Scott, L, Singh, T, Smoller, J W, Solomonson, M, Clair, D S, Stahl, E A, Vreeker, A, Walters, J T R, Wang, W, Watts, N A, Yolken, R, Zandi, P P & Neale, B M 2022, ' Exome sequencing in bipolar disorder identifies AKAP11 as a risk gene shared with schizophrenia ', Nature genetics, vol. 54, no. 5, pp. 541-547 . https://doi.org/10.1038/s41588-022-01034-x
We report results from the Bipolar Exome (BipEx) collaboration analysis of whole-exome sequencing of 13,933 patients with bipolar disorder (BD) matched with 14,422 controls. We find an excess of ultra-rare protein-truncating variants (PTVs) in patien
Autor:
Caitlin E. Carey, Rebecca Shafee, Amanda Elliott, Duncan S. Palmer, John Compitello, Masahiro Kanai, Liam Abbott, Patrick Schultz, Konrad J. Karczewski, Samuel C. Bryant, Caroline M. Cusick, Claire Churchhouse, Daniel P. Howrigan, Daniel King, George Davey Smith, Robbee Wedow, Benjamin M. Neale, Raymond K. Walters, Elise B. Robinson
Broad yet detailed data collected in biobanks captures variation reflective of human health and behavior, but insights are hard to extract given their complexity and scale. In the largest factor analysis to date, we distill hundreds of medical record
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a63a65d404eea7fcea62b5e0462f9c4e
https://doi.org/10.1101/2022.09.02.22279546
https://doi.org/10.1101/2022.09.02.22279546
Autor:
Caitlin Carey, Rebecca Shafee, Robbee Wedow, Duncan Palmer, Liam Abbott, Daniel Howrigan, Claire Churchhouse, Benjamin Neale, Raymond Walters, Elise Robinson
Publikováno v:
European Neuropsychopharmacology. 63:e112-e113
Autor:
Tarjinder Singh, Timothy Poterba, David Curtis, Huda Akil, Mariam Al Eissa, Jack D. Barchas, Nicholas Bass, Tim B. Bigdeli, Gerome Breen, Evelyn J. Bromet, Peter F. Buckley, William E. Bunney, Jonas Bybjerg-Grauholm, William F. Byerley, Sinéad B. Chapman, Wei J. Chen, Claire Churchhouse, Nicholas Craddock, Caroline M. Cusick, Lynn DeLisi, Sheila Dodge, Michael A. Escamilla, Saana Eskelinen, Ayman H. Fanous, Stephen V. Faraone, Alessia Fiorentino, Laurent Francioli, Stacey B. Gabriel, Diane Gage, Sarah A. Gagliano Taliun, Andrea Ganna, Giulio Genovese, David C. Glahn, Jakob Grove, Mei-Hua Hall, Eija Hämäläinen, Henrike O. Heyne, Matti Holi, David M. Hougaard, Daniel P. Howrigan, Hailiang Huang, Hai-Gwo Hwu, René S. Kahn, Hyun Min Kang, Konrad J. Karczewski, George Kirov, James A. Knowles, Francis S. Lee, Douglas S. Lehrer, Francesco Lescai, Dolores Malaspina, Stephen R. Marder, Steven A. McCarroll, Andrew M. McIntosh, Helena Medeiros, Lili Milani, Christopher P. Morley, Derek W. Morris, Preben Bo Mortensen, Richard M. Myers, Merete Nordentoft, Niamh L. O’Brien, Ana Maria Olivares, Dost Ongur, Willem H. Ouwehand, Duncan S. Palmer, Tiina Paunio, Digby Quested, Mark H. Rapaport, Elliott Rees, Brandi Rollins, F. Kyle Satterstrom, Alan Schatzberg, Edward Scolnick, Laura J. Scott, Sally I. Sharp, Pamela Sklar, Jordan W. Smoller, Janet L. Sobell, Matthew Solomonson, Eli A. Stahl, Christine R. Stevens, Jaana Suvisaari, Grace Tiao, Stanley J. Watson, Nicholas A. Watts, Douglas H. Blackwood, Anders D. Børglum, Bruce M. Cohen, Aiden P. Corvin, Tõnu Esko, Nelson B. Freimer, Stephen J. Glatt, Christina M. Hultman, Andrew McQuillin, Aarno Palotie, Carlos N. Pato, Michele T. Pato, Ann E. Pulver, David St. Clair, Ming T. Tsuang, Marquis P. Vawter, James T. Walters, Thomas M. Werge, Roel A. Ophoff, Patrick F. Sullivan, Michael J. Owen, Michael Boehnke, Michael C. O’Donovan, Benjamin M. Neale, Mark J. Daly
Publikováno v:
Singh, T, Poterba, T, Curtis, D, Akil, H, Al Eissa, M, Barchas, J D, Bass, N, Bigdeli, T B, Breen, G, Bromet, E J, Buckley, P F, Bunney, W E, Bybjerg-Grauholm, J, Byerley, W F, Chapman, S B, Chen, W J, Churchhouse, C, Craddock, N, Cusick, C M, DeLisi, L, Dodge, S, Escamilla, M A, Eskelinen, S, Fanous, A H, Faraone, S V, Fiorentino, A, Francioli, L, Gabriel, S B, Gage, D, Gagliano Taliun, S A, Ganna, A, Genovese, G, Glahn, D C, Grove, J, Hall, M H, Hämäläinen, E, Heyne, H O, Holi, M, Hougaard, D M, Howrigan, D P, Huang, H, Hwu, H G, Kahn, R S, Kang, H M, Karczewski, K J, Kirov, G, Knowles, J A, Lee, F S, Lehrer, D S, Lescai, F, Malaspina, D, Marder, S R, McCarroll, S A, McIntosh, A M, Medeiros, H, Milani, L, Morley, C P, Morris, D W, Mortensen, P B, Myers, R M, Nordentoft, M, O’Brien, N L, Olivares, A M, Ongur, D, Ouwehand, W H, Palmer, D S, Paunio, T, Quested, D, Rapaport, M H, Rees, E, Rollins, B, Satterstrom, F K, Schatzberg, A, Scolnick, E, Scott, L J, Sharp, S I, Sklar, P, Smoller, J W, Sobell, J L, Solomonson, M, Stahl, E A, Stevens, C R, Suvisaari, J, Tiao, G, Watson, S J, Watts, N A, Blackwood, D H, Børglum, A D, Cohen, B M, Corvin, A P, Esko, T, Freimer, N B, Glatt, S J, Hultman, C M, McQuillin, A, Palotie, A, Pato, C N, Pato, M T, Pulver, A E, St. Clair, D, Tsuang, M T, Vawter, M P, Walters, J T, Werge, T M, Ophoff, R A, Sullivan, P F, Owen, M J, Boehnke, M, O’Donovan, M C, Neale, B M & Daly, M J 2022, ' Rare coding variants in ten genes confer substantial risk for schizophrenia ', Nature, vol. 604, no. 7906, pp. 509-516 . https://doi.org/10.1038/s41586-022-04556-w
Singh, T, Poterba, T, Curtis, D, Akil, H, Al Eissa, M, Barchas, J D, Bass, N, Bigdeli, T B, Breen, G, Bromet, E J, Buckley, P F, Bunney, W E, Bybjerg-Grauholm, J, Byerley, W F, Chapman, S B, Chen, W J, Churchhouse, C, Craddock, N, Cusick, C M, DeLisi, L, Dodge, S, Escamilla, M A, Eskelinen, S, Fanous, A H, Faraone, S V, Fiorentino, A, Francioli, L, Gabriel, S B, Gage, D, Gagliano Taliun, S A, Ganna, A, Genovese, G, Glahn, D C, Grove, J, Hall, M-H, Hämäläinen, E, Heyne, H O, Holi, M, Hougaard, D M, Howrigan, D P, Huang, H, Hwu, H-G, Kahn, R S, Kang, H M, Karczewski, K J, Kirov, G, Knowles, J A, Lee, F S, Lehrer, D S, Lescai, F, Malaspina, D, Marder, S R, McCarroll, S A, McIntosh, A M, Medeiros, H, Milani, L, Morley, C P, Morris, D W, Mortensen, P B, Myers, R M, Nordentoft, M, O'Brien, N L, Olivares, A M, Ongur, D, Ouwehand, W H, Palmer, D S, Paunio, T, Quested, D, Rapaport, M H, Rees, E, Rollins, B, Satterstrom, F K, Schatzberg, A, Scolnick, E, Scott, L J, Sharp, S I, Sklar, P, Smoller, J W, Sobell, J L, Solomonson, M, Stahl, E A, Stevens, C R, Suvisaari, J, Tiao, G, Watson, S J, Watts, N A, Blackwood, D H, Børglum, A D, Cohen, B M, Corvin, A P, Esko, T, Freimer, N B, Glatt, S J, Hultman, C M, McQuillin, A, Palotie, A, Pato, C N, Pato, M T, Pulver, A E, St Clair, D, Tsuang, M T, Vawter, M P, Walters, J T, Werge, T M, Ophoff, R A, Sullivan, P F, Owen, M J, Boehnke, M, O'Donovan, M C, Neale, B M & Daly, M J 2022, ' Rare coding variants in ten genes confer substantial risk for schizophrenia ', Nature, vol. 604, no. 7906, pp. 509-516 . https://doi.org/10.1038/s41586-022-04556-w
Nature, 604(7906), 509-516. Nature Publishing Group
Nature
Singh, T, Poterba, T, Curtis, D, Akil, H, Al Eissa, M, Barchas, J D, Bass, N, Bigdeli, T B, Breen, G, Bromet, E J, Buckley, P F, Bunney, W E, Bybjerg-Grauholm, J, Byerley, W F, Chapman, S B, Chen, W J, Churchhouse, C, Craddock, N, Cusick, C M, DeLisi, L, Dodge, S, Escamilla, M A, Eskelinen, S, Fanous, A H, Faraone, S V, Fiorentino, A, Francioli, L, Gabriel, S B, Gage, D, Gagliano Taliun, S A, Ganna, A, Genovese, G, Glahn, D C, Grove, J, Hall, M-H, Hämäläinen, E, Heyne, H O, Holi, M, Hougaard, D M, Howrigan, D P, Huang, H, Hwu, H-G, Kahn, R S, Kang, H M, Karczewski, K J, Kirov, G, Knowles, J A, Lee, F S, Lehrer, D S, Lescai, F, Malaspina, D, Marder, S R, McCarroll, S A, McIntosh, A M, Medeiros, H, Milani, L, Morley, C P, Morris, D W, Mortensen, P B, Myers, R M, Nordentoft, M, O'Brien, N L, Olivares, A M, Ongur, D, Ouwehand, W H, Palmer, D S, Paunio, T, Quested, D, Rapaport, M H, Rees, E, Rollins, B, Satterstrom, F K, Schatzberg, A, Scolnick, E, Scott, L J, Sharp, S I, Sklar, P, Smoller, J W, Sobell, J L, Solomonson, M, Stahl, E A, Stevens, C R, Suvisaari, J, Tiao, G, Watson, S J, Watts, N A, Blackwood, D H, Børglum, A D, Cohen, B M, Corvin, A P, Esko, T, Freimer, N B, Glatt, S J, Hultman, C M, McQuillin, A, Palotie, A, Pato, C N, Pato, M T, Pulver, A E, St Clair, D, Tsuang, M T, Vawter, M P, Walters, J T, Werge, T M, Ophoff, R A, Sullivan, P F, Owen, M J, Boehnke, M, O'Donovan, M C, Neale, B M & Daly, M J 2022, ' Rare coding variants in ten genes confer substantial risk for schizophrenia ', Nature, vol. 604, no. 7906, pp. 509-516 . https://doi.org/10.1038/s41586-022-04556-w
Nature, 604(7906), 509-516. Nature Publishing Group
Nature
Rare coding variation has historically provided the most direct connections between gene function and disease pathogenesis. By meta-analysing the whole exomes of 24,248 schizophrenia cases and 97,322 controls, we implicate ultra-rare coding variants
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bfe2ccc8fbcc9e1444b626bc8351e653
https://pure.au.dk/portal/da/publications/rare-coding-variants-in-ten-genes-confer-substantial-risk-for-schizophrenia(18614934-0efa-4d5e-be5b-93b19a40453d).html
https://pure.au.dk/portal/da/publications/rare-coding-variants-in-ten-genes-confer-substantial-risk-for-schizophrenia(18614934-0efa-4d5e-be5b-93b19a40453d).html
Autor:
Gabriëlla A.M. Blokland, Jakob Grove, Chia-Yen Chen, Chris Cotsapas, Stuart Tobet, Robert Handa, David St Clair, Todd Lencz, Bryan J. Mowry, Sathish Periyasamy, Murray J. Cairns, Paul A. Tooney, Jing Qin Wu, Brian Kelly, George Kirov, Patrick F. Sullivan, Aiden Corvin, Brien P. Riley, Tõnu Esko, Lili Milani, Erik G. Jönsson, Aarno Palotie, Hannelore Ehrenreich, Martin Begemann, Agnes Steixner-Kumar, Pak C. Sham, Nakao Iwata, Daniel R. Weinberger, Pablo V. Gejman, Alan R. Sanders, Joseph D. Buxbaum, Dan Rujescu, Ina Giegling, Bettina Konte, Annette M. Hartmann, Elvira Bramon, Robin M. Murray, Michele T. Pato, Jimmy Lee, Ingrid Melle, Espen Molden, Roel A. Ophoff, Andrew McQuillin, Nicholas J. Bass, Rolf Adolfsson, Anil K. Malhotra, Nicholas G. Martin, Janice M. Fullerton, Philip B. Mitchell, Peter R. Schofield, Andreas J. Forstner, Franziska Degenhardt, Sabrina Schaupp, Ashley L. Comes, Manolis Kogevinas, José Guzman-Parra, Andreas Reif, Fabian Streit, Lea Sirignano, Sven Cichon, Maria Grigoroiu-Serbanescu, Joanna Hauser, Jolanta Lissowska, Fermin Mayoral, Bertram Müller-Myhsok, Beata Świątkowska, Thomas G. Schulze, Markus M. Nöthen, Marcella Rietschel, John Kelsoe, Marion Leboyer, Stéphane Jamain, Bruno Etain, Frank Bellivier, John B. Vincent, Martin Alda, Claire O’Donovan, Pablo Cervantes, Joanna M. Biernacka, Mark Frye, Susan L. McElroy, Laura J. Scott, Eli A. Stahl, Mikael Landén, Marian L. Hamshere, Olav B. Smeland, Srdjan Djurovic, Arne E. Vaaler, Ole A. Andreassen, Bernhard T. Baune, Tracy Air, Martin Preisig, Rudolf Uher, Douglas F. Levinson, Myrna M. Weissman, James B. Potash, Jianxin Shi, James A. Knowles, Roy H. Perlis, Susanne Lucae, Dorret I. Boomsma, Brenda W.J.H. Penninx, Jouke-Jan Hottenga, Eco J.C. de Geus, Gonneke Willemsen, Yuri Milaneschi, Henning Tiemeier, Hans J. Grabe, Alexander Teumer, Sandra Van der Auwera, Uwe Völker, Steven P. Hamilton, Patrik K.E. Magnusson, Alexander Viktorin, Divya Mehta, Niamh Mullins, Mark J. Adams, Gerome Breen, Andrew M. McIntosh, Cathryn M. Lewis, David M. Hougaard, Merete Nordentoft, Ole Mors, Preben B. Mortensen, Thomas Werge, Thomas D. Als, Anders D. Børglum, Tracey L. Petryshen, Jordan W. Smoller, Jill M. Goldstein, Stephan Ripke, Benjamin M. Neale, James T.R. Walters, Kai-How Farh, Peter A. Holmans, Phil Lee, Brendan Bulik-Sullivan, David A. Collier, Hailiang Huang, Tune H. Pers, Ingrid Agartz, Esben Agerbo, Margot Albus, Madeline Alexander, Farooq Amin, Silviu A. Bacanu, Richard A. Belliveau, Judit Bene, Sarah E. Bergen, Elizabeth Bevilacqua, Tim B. Bigdeli, Donald W. Black, Richard Bruggeman, Nancy G. Buccola, Randy L. Buckner, William Byerley, Wiepke Cahn, Guiqing Cai, Dominique Campion, Rita M. Cantor, Vaughan J. Carr, Noa Carrera, Stanley V. Catts, Kimberly D. Chambert, Raymond C.K. Chan, Ronald Y.L. Chen, Eric Y.H. Chen, Wei Cheng, Eric F.C. Cheung, Siow Ann Chong, C. Robert Cloninger, David Cohen, Nadine Cohen, Paul Cormican, Nick Craddock, James J. Crowley, David Curtis, Michael Davidson, Kenneth L. Davis, Jurgen Del Favero, Ditte Demontis, Dimitris Dikeos, Timothy Dinan, Gary Donohoe, Elodie Drapeau, Jubao Duan, Frank Dudbridge, Naser Durmishi, Peter Eichhammer, Johan Eriksson, Valentina Escott-Price, Laurent Essioux, Ayman H. Fanous, Martilias S. Farrell, Josef Frank, Lude Franke, Robert Freedman, Nelson B. Freimer, Marion Friedl, Joseph I. Friedman, Menachem Fromer, Giulio Genovese, Lyudmila Georgieva, Paola Giusti-Rodríguez, Stephanie Godard, Jacqueline I. Goldstein, Vera Golimbet, Srihari Gopal, Jacob Gratten, Lieuwe de Haan, Christian Hammer, Mark Hansen, Thomas Hansen, Vahram Haroutunian, Frans A. Henskens, Stefan Herms, Joel N. Hirschhorn, Per Hoffmann, Andrea Hofman, Mads V. Hollegaard, Masashi Ikeda, Inge Joa, Antonio Julià, René S. Kahn, Luba Kalaydjieva, Sena Karachanak-Yankova, Juha Karjalainen, David Kavanagh, Matthew C. Keller, James L. Kennedy, Andrey Khrunin, Yunjung Kim, Janis Klovins, Vaidutis Kucinskas, Zita Ausrele Kucinskiene, Hana Kuzelova-Ptackova, Anna K. Kähler, Claudine Laurent, Jimmy Lee Chee Keong, S. Hong Lee, Sophie E. Legge, Bernard Lerer, Miaoxin Li, Tao Li, Kung-Yee Liang, Jeffrey Lieberman, Svetlana Limborska, Carmel M. Loughland, Jan Lubinski, Jouko Lönnqvist, Milan Macek, Brion S. Maher, Wolfgang Maier, Jacques Mallet, Sara Marsal, Manuel Mattheisen, Morten Mattingsdal, Robert W. McCarley, Colm McDonald, Sandra Meier, Carin J. Meijer, Bela Melegh, Raquelle I. Mesholam-Gately, Andres Metspalu, Patricia T. Michie, Vihra Milanova, Younes Mokrab, Derek W. Morris, Kieran C. Murphy, Inez Myin-Germeys, Mari Nelis, Igor Nenadic, Deborah A. Nertney, Gerald Nestadt, Kristin K. Nicodemus, Liene Nikitina-Zake, Laura Nisenbaum, Annelie Nordin, Eadbhard O’Callaghan, Colm O’Dushlaine, F. Anthony O’Neill, Sang-Yun Oh, Ann Olincy, Line Olsen, Jim Van Os, Christos Pantelis, George N. Papadimitriou, Sergi Papiol, Elena Parkhomenko, Tiina Paunio, Milica Pejovic-Milovancevic, Diana O. Perkins, Olli Pietiläinen, Jonathan Pimm, Andrew J. Pocklington, John Powell, Alkes Price, Ann E. Pulver, Shaun M. Purcell, Digby Quested, Henrik B. Rasmussen, Abraham Reichenberg, Mark A. Reimers, Alexander L. Richards, Joshua L. Roffman, Panos Roussos, Douglas M. Ruderfer, Veikko Salomaa, Ulrich Schall, Christian R. Schubert, Sibylle G. Schwab, Edward M. Scolnick, Rodney J. Scott, Larry J. Seidman, Engilbert Sigurdsson, Teimuraz Silagadze, Jeremy M. Silverman, Kang Sim, Petr Slominsky, Hon-Cheong So, Chris C.A. Spencer, Hreinn Stefansson, Stacy Steinberg, Elisabeth Stogmann, Richard E. Straub, Eric Strengman, Jana Strohmaier, T. Scott Stroup, Mythily Subramaniam, Jaana Suvisaari, Dragan M. Svrakic, Jin P. Szatkiewicz, Erik Söderman, Srinivas Thirumalai, Draga Toncheva, Sarah Tosato, Juha Veijola, John Waddington, Dermot Walsh, Dai Wang, Qiang Wang, Bradley T. Webb, Mark Weiser, Dieter B. Wildenauer, Nigel M. Williams, Stephanie Williams, Stephanie H. Witt, Aaron R. Wolen, Emily H.M. Wong, Brandon K. Wormley, Hualin Simon Xi, Clement C. Zai, Xuebin Zheng, Fritz Zimprich, Naomi R. Wray, Kari Stefansson, Peter M. Visscher, Douglas H.R. Blackwood, Ariel Darvasi, Enrico Domenici, Michael Gill, Hugh Gurling, Christina M. Hultman, Assen V. Jablensky, Kenneth S. Kendler, Jo Knight, Qingqin S. Li, Jianjun Liu, Steven A. McCarroll, Jennifer L. Moran, Michael J. Owen, Carlos N. Pato, Danielle Posthuma, Pamela Sklar, Jens R. Wendland, Mark J. Daly, Michael C. O’Donovan, Peter Donnelly, Ines Barroso, Jenefer M. Blackwell, Matthew A. Brown, Juan P. Casas, Panos Deloukas, Audrey Duncanson, Janusz Jankowski, Hugh S. Markus, Christopher G. Mathew, Colin N.A. Palmer, Robert Plomin, Anna Rautanen, Stephen J. Sawcer, Richard C. Trembath, Ananth C. Viswanathan, Nicholas W. Wood, Gavin Band, Céline Bellenguez, Colin Freeman, Eleni Giannoulatou, Garrett Hellenthal, Richard Pearson, Matti Pirinen, Amy Strange, Zhan Su, Damjan Vukcevic, Cordelia Langford, Hannah Blackburn, Suzannah J. Bumpstead, Serge Dronov, Sarah Edkins, Matthew Gillman, Emma Gray, Rhian Gwilliam, Naomi Hammond, Sarah E. Hunt, Alagurevathi Jayakumar, Jennifer Liddle, Owen T. McCann, Simon C. Potter, Radhi Ravindrarajah, Michelle Ricketts, Avazeh Tashakkori-Ghanbaria, Matthew Waller, Paul Weston, Pamela Whittaker, Sara Widaa, Mark I. McCarthy, Maria J. Arranz, Steven Bakker, Stephan Bender, Benedicto Crespo-Facorro, Jeremy Hall, Conrad Iyegbe, Stephen Lawrie, Kuang Lin, Don H. Linszen, Ignacio Mata, Muriel Walshe, Matthias Weisbrod, Durk Wiersma, Vassily Trubetskoy, Yunpeng Wang, Jonathan R.I. Coleman, Héléna A. Gaspar, Christiaan A. de Leeuw, Jennifer M. Whitehead Pavlides, Maciej Trzaskowski, Enda M. Byrne, Liam Abbott, Huda Akil, Diego Albani, Ney Alliey-Rodriguez, Adebayo Anjorin, Verneri Antilla, Swapnil Awasthi, Judith A. Badner, Marie Bækvad-Hansen, Jack D. Barchas, Nicholas Bass, Michael Bauer, Richard Belliveau, Carsten Bøcker Pedersen, Erlend Bøen, Marco P. Boks, James Boocock, Monika Budde, William Bunney, Margit Burmeister, Jonas Bybjerg-Grauholm, Miquel Casas, Felecia Cerrato, Kimberly Chambert, Alexander W. Charney, Danfeng Chen, Claire Churchhouse, Toni-Kim Clarke, William Coryell, David W. Craig, Cristiana Cruceanu, Piotr M. Czerski, Anders M. Dale, Simone de Jong, Jurgen Del-Favero, J. Raymond DePaulo, Amanda L. Dobbyn, Ashley Dumont, Torbjørn Elvsåshagen, Chun Chieh Fan, Sascha B. Fischer, Matthew Flickinger, Tatiana M. Foroud, Liz Forty, Christine Fraser, Katrin Gade, Diane Gage, Julie Garnham, Claudia Giambartolomei, Marianne Giørtz Pedersen, Jaqueline Goldstein, Scott D. Gordon, Katherine Gordon-Smith, Elaine K. Green, Melissa J. Green, Tiffany A. Greenwood, Weihua Guan, Martin Hautzinger, Urs Heilbronner, Maria Hipolito, Dominic Holland, Laura Huckins, Jessica S. Johnson, Radhika Kandaswamy, Robert Karlsson, Sarah Kittel-Schneider, Anna C. Koller, Ralph Kupka, Catharina Lavebratt, Jacob Lawrence, William B. Lawson, Markus Leber, Phil H. Lee, Shawn E. Levy, Jun Z. Li, Chunyu Liu, Anna Maaser, Donald J. MacIntyre, Pamela B. Mahon, Lina Martinsson, Steve McCarroll, Peter McGuffin, Melvin G. McInnis, James D. McKay, Helena Medeiros, Sarah E. Medland, Fan Meng, Grant W. Montgomery, Thomas W. Mühleisen, Hoang Nguyen, Caroline M. Nievergelt, Annelie Nordin Adolfsson, Evaristus A. Nwulia, Claire O'Donovan, Loes M. Olde Loohuis, Anil P.S. Ori, Lilijana Oruc, Urban Ösby, Amy Perry, Andrea Pfennig, Eline J. Regeer, Céline S. Reinbold, John P. Rice, Fabio Rivas, Margarita Rivera, Euijung Ryu, Cristina Sánchez-Mora, Alan F. Schatzberg, William A. Scheftner, Nicholas J. Schork, Cynthia Shannon Weickert, Tatyana Shehktman, Paul D. Shilling, Claire Slaney, Janet L. Sobell, Christine Søholm Hansen, Anne T. Spijker, Michael Steffens, John S. Strauss, Szabolcs Szelinger, Robert C. Thompson, Thorgeir E. Thorgeirsson, Jens Treutlein, Helmut Vedder, Weiqing Wang, Stanley J. Watson, Thomas W. Weickert, Simon Xi, Wei Xu, Allan H. Young, Peter Zandi, Peng Zhang, Sebastian Zöllner, Abdel Abdellaoui, Tracy M. Air, Till F.M. Andlauer, Silviu-Alin Bacanu, Aartjan T.F. Beekman, Elisabeth B. Binder, Julien Bryois, Henriette N. Buttenschøn, Na Cai, Enrique Castelao, Jane Hvarregaard Christensen, Lucía Colodro-Conde, Baptiste Couvy-Duchesne, Gregory E. Crawford, Gail Davies, Ian J. Deary, Eske M. Derks, Nese Direk, Conor V. Dolan, Erin C. Dunn, Thalia C. Eley, Farnush Farhadi Hassan Kiadeh, Hilary K. Finucane, Jerome C. Foo, Fernando S. Goes, Lynsey S. Hall, Thomas F. Hansen, Ian B. Hickie, Georg Homuth, Carsten Horn, David M. Howard, Marcus Ising, Rick Jansen, Ian Jones, Lisa A. Jones, Eric Jorgenson, Isaac S. Kohane, Julia Kraft, Warren W. Kretzschmar, Zoltán Kutalik, Yihan Li, Penelope A. Lind, Dean F. MacKinnon, Robert M. Maier, Jonathan Marchini, Hamdi Mbarek, Patrick McGrath, Christel M. Middeldorp, Evelin Mihailov, Francis M. Mondimore, Sara Mostafavi, Matthias Nauck, Bernard Ng, Michel G. Nivard, Dale R. Nyholt, Paul F. O'Reilly, Hogni Oskarsson, Jodie N. Painter, Roseann E. Peterson, Wouter J. Peyrot, Giorgio Pistis, Jorge A. Quiroz, Per Qvist, Saira Saeed Mirza, Robert Schoevers, Eva C. Schulte, Ling Shen, Stanley I. Shyn, Grant C.B. Sinnamon, Johannes H. Smit, Daniel J. Smith, Katherine E. Tansey, Henning Teismann, Wesley Thompson, Pippa A. Thomson, Matthew Traylor, André G. Uitterlinden, Daniel Umbricht, Albert M. van Hemert, Shantel Marie Weinsheimer, Jürgen Wellmann, Yang Wu, Hualin S. Xi, Jian Yang, Futao Zhang, Volker Arolt, Klaus Berger, Udo Dannlowski, Katharina Domschke, Caroline Hayward, Andrew C. Heath, Stefan Kloiber, Glyn Lewis, Pamela AF. Madden, Patrik K. Magnusson, Preben Bo Mortensen, Michael C. O'Donovan, Sara A. Paciga, Nancy L. Pedersen, David J. Porteous, Catherine Schaefer, Henry Völzke, Marco Bortolato, Janita Bralten, Cynthia M. Bulik, Christie L. Burton, Caitlin E. Carey, Lea K. Davis, Laramie E. Duncan, Howard J. Edenberg, Lauren Erdman, Stephen V. Faraone, Slavina B. Goleva, Wei Guo, Christopher Hübel, Laura M. Huckins, Ekaterina A. Khramtsova, Joanna Martin, Carol A. Mathews, Elise Robinson, Eli Stahl, Barbara E. Stranger, Michela Traglia, Raymond K. Walters, Lauren A. Weiss, Stacey J. Winham, Yin Yao, Kristjar Skajaa, Markus Nöthen, Michael Owen, Robert H. Yolken, Niels Plath, Jonathan Mill, Daniel Geschwind
Publikováno v:
Biological Psychiatry, 91(1), 102-117. Elsevier Science
Biological Psychiatry, 91(1), 102-117. Elsevier USA
Blokland, G A M, Grove, J, Chen, C Y, Cotsapas, C, Tobet, S, Handa, R, Schizophrenia Working Group of the Psychiatric Genomics Consortium, Bipolar Disorder Working Group of the Psychiatric Genomics Consortium, Major Depressive Disorder Working Group of the Psychiatric Genomics Consortium, Sex Differences Cross-Disorder Analysis Group of the Psychiatric Genomics Consortium & iPSYCH 2022, ' Sex-Dependent Shared and Nonshared Genetic Architecture Across Mood and Psychotic Disorders ', Biological Psychiatry, vol. 91, no. 1, pp. 102-117 . https://doi.org/10.1016/j.biopsych.2021.02.972
Biological Psychiatry, 91, 1, pp. 102-117
Biological Psychiatry
Biological Psychiatry, 91, 102-117
Bipolar Disorder Working Group of the Psychiatric Genomics Consortium, Sex Differences Cross-Disorder Analysis Group of the Psychiatric Genomics Consortium, Major Depressive Disorder Working Group of the Psychiatric Genomics Consortium, Schizophrenia Working Group of the Psychiatric Genomics Consortium & iPSYCH 2021, ' Sex-Dependent Shared and Nonshared Genetic Architecture Across Mood and Psychotic Disorders ', Biological Psychiatry . https://doi.org/10.1016/j.biopsych.2021.02.972
Biol Psychiatry
Biological psychiatry 91(1), 102-117 (2022). doi:10.1016/j.biopsych.2021.02.972
Biological Psychiatry. Elsevier USA
Biological Psychiatry, 91(1), 102-117. Elsevier Inc.
Biological psychiatry. Elsevier USA
Blokland, G A M, Grove, J, Chen, C, Cotsapas, C, Tobet, S, Sullivan, P F, Boomsma, D I, Penninx, B W J H, Hottenga, J-J, de Geus, E J C, Willemsen, G, Milaneschi, Y, Als, T D, Børglum, A D, Petryshen, T L, Smoller, J W, Goldstein, J M, Schizophrenia Working Group of the Psychiatric Genomics Consortium, Bipolar Disorder Working Group of the Psychiatric Genomics Consortium, Major Depressive Disorder Working Group of the Psychiatric Genomics Consortium, Sex Differences Cross-Disorder Analysis Group of the Psychiatric Genomics Consortium & iPSYCH 2022, ' Sex-Dependent Shared and Nonshared Genetic Architecture Across Mood and Psychotic Disorders ', Biological Psychiatry, vol. 91, no. 1, pp. 102-117 . https://doi.org/10.1016/j.biopsych.2021.02.972
Biological Psychiatry, 91(1), 102-117. Elsevier USA
Blokland, G A M, Grove, J, Chen, C Y, Cotsapas, C, Tobet, S, Handa, R, Schizophrenia Working Group of the Psychiatric Genomics Consortium, Bipolar Disorder Working Group of the Psychiatric Genomics Consortium, Major Depressive Disorder Working Group of the Psychiatric Genomics Consortium, Sex Differences Cross-Disorder Analysis Group of the Psychiatric Genomics Consortium & iPSYCH 2022, ' Sex-Dependent Shared and Nonshared Genetic Architecture Across Mood and Psychotic Disorders ', Biological Psychiatry, vol. 91, no. 1, pp. 102-117 . https://doi.org/10.1016/j.biopsych.2021.02.972
Biological Psychiatry, 91, 1, pp. 102-117
Biological Psychiatry
Biological Psychiatry, 91, 102-117
Bipolar Disorder Working Group of the Psychiatric Genomics Consortium, Sex Differences Cross-Disorder Analysis Group of the Psychiatric Genomics Consortium, Major Depressive Disorder Working Group of the Psychiatric Genomics Consortium, Schizophrenia Working Group of the Psychiatric Genomics Consortium & iPSYCH 2021, ' Sex-Dependent Shared and Nonshared Genetic Architecture Across Mood and Psychotic Disorders ', Biological Psychiatry . https://doi.org/10.1016/j.biopsych.2021.02.972
Biol Psychiatry
Biological psychiatry 91(1), 102-117 (2022). doi:10.1016/j.biopsych.2021.02.972
Biological Psychiatry. Elsevier USA
Biological Psychiatry, 91(1), 102-117. Elsevier Inc.
Biological psychiatry. Elsevier USA
Blokland, G A M, Grove, J, Chen, C, Cotsapas, C, Tobet, S, Sullivan, P F, Boomsma, D I, Penninx, B W J H, Hottenga, J-J, de Geus, E J C, Willemsen, G, Milaneschi, Y, Als, T D, Børglum, A D, Petryshen, T L, Smoller, J W, Goldstein, J M, Schizophrenia Working Group of the Psychiatric Genomics Consortium, Bipolar Disorder Working Group of the Psychiatric Genomics Consortium, Major Depressive Disorder Working Group of the Psychiatric Genomics Consortium, Sex Differences Cross-Disorder Analysis Group of the Psychiatric Genomics Consortium & iPSYCH 2022, ' Sex-Dependent Shared and Nonshared Genetic Architecture Across Mood and Psychotic Disorders ', Biological Psychiatry, vol. 91, no. 1, pp. 102-117 . https://doi.org/10.1016/j.biopsych.2021.02.972
Contains fulltext : 248656.pdf (Publisher’s version ) (Closed access) BACKGROUND: Sex differences in incidence and/or presentation of schizophrenia (SCZ), major depressive disorder (MDD), and bipolar disorder (BIP) are pervasive. Previous evidence
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f0f533f1ee51f80e7e36bf1609dfb7ae
https://cris.maastrichtuniversity.nl/en/publications/9ef4e1d0-ea1a-49c3-b815-9c883eae4707
https://cris.maastrichtuniversity.nl/en/publications/9ef4e1d0-ea1a-49c3-b815-9c883eae4707
Autor:
Cheryl A. Roe, Claire Churchhouse, Wei J. Chen, Felecia Cerrato, Sharon D. Chandler, Menachem Fromer, Ashley Dumont, Stephen V. Faraone, Stephen J. Glatt, Benjamin M. Neale, Hai-Gwo Hwu, Giulio Genovese, Mark J. Daly, Nan M. Laird, Samuel A. Rose, Shi-Heng Wang, Kaitlin E. Samocha, Kimberly Chambert, Jennifer L. Moran, Daniel P. Howrigan, Jack A. Kosmicki, Tarjinder Singh, Steven A. McCarroll, Ming T. Tsuang
Publikováno v:
Nature neuroscience, vol 23, iss 2
Nature neuroscience
Nature neuroscience
Protein-coding de novo mutations (DNMs) are significant risk factors in many neurodevelopmental disorders, whereas schizophrenia (SCZ) risk associated with DNMs has thus far been shown to be modest. We analyzed DNMs from 1,695 SCZ-affected trios and
Autor:
Cotton Seed, Masahiro Kanai, Nikolas Baya, Wei Zhou, Claire Churchhouse, Daniel King, Liam Abbott, Alex Bloemendal, Tim Poterba, Benjamin M. Neale, Duncan S. Palmer
In classical statistical genetic theory, a dominance effect is defined as the deviation from a purely additive genetic effect for a biallelic variant. Dominance effects are well documented in model organisms. However, evidence in humans is limited to
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b886028314eebe0dedf5631b8fba84bd
https://doi.org/10.1101/2021.08.15.456387
https://doi.org/10.1101/2021.08.15.456387