Zobrazeno 1 - 10
of 33
pro vyhledávání: '"Julian Maller"'
Autor:
Jesper Buchhave Poulsen, Francesco Lescai, Jakob Grove, Marie Bækvad-Hansen, Michael Christiansen, Christian Munch Hagen, Julian Maller, Christine Stevens, Shenting Li, Qibin Li, Jihua Sun, Jun Wang, Merete Nordentoft, Thomas Mears Werge, Preben Bo Mortensen, Anders Dupont Børglum, Mark Daly, David Michael Hougaard, Jonas Bybjerg-Grauholm, Mads Vilhelm Hollegaard
Publikováno v:
PLoS ONE, Vol 11, Iss 4, p e0153253 (2016)
Stored neonatal dried blood spot (DBS) samples from neonatal screening programmes are a valuable diagnostic and research resource. Combined with information from national health registries they can be used in population-based studies of genetic disea
Externí odkaz:
https://doaj.org/article/b7d81261b38b483baebf2902853bbb78
Autor:
Francesco Lescai, Duncan S. Palmer, Ditte Demontis, Merete Nordentoft, Ole Mors, Marie Bækvad-Hansen, Satterstrom Fk, Elise B. Robinson, Anders D. Børglum, Julian Maller, Jack A. Kosmicki, Raymond K. Walters, David M. Hougaard, Tarjinder Singh, Emilie M. Wigdor, Christine Stevens, Mark J. Daly, Bo Mortensen P, Jakob Grove, Benjamin M. Neale, Thomas Werge, Jonas Bybjerg-Grauholm
Publikováno v:
Satterstrom, F K, Walters, R K, Singh, T, Wigdor, E M, Lescai, F, Demontis, D, Kosmicki, J A, Grove, J, Stevens, C, Bybjerg-Grauholm, J, Bækvad-Hansen, M, Palmer, D S, Maller, J B, iPSYCH-Broad Consortium, Nordentoft, M, Mors, O, Robinson, E B, Hougaard, D M, Werge, T M, Bo Mortensen, P, Neale, B M, Børglum, A D & Daly, M J 2019, ' Autism spectrum disorder and attention deficit hyperactivity disorder have a similar burden of rare protein-truncating variants ', Nature Neuroscience, vol. 22, no. 12, pp. 1961-1965 . https://doi.org/10.1038/s41593-019-0527-8
Nature neuroscience
Nature neuroscience
The exome sequences of approximately 8,000 children with autism spectrum disorder (ASD) and/or attention deficit hyperactivity disorder (ADHD) and 5,000 controls were analyzed, finding that individuals with ASD and individuals with ADHD had a similar
Autor:
Gail E. Herman, Jennifer Reichert, Camilla Stoltenberg, Stephen Sanders, Menachem Fromer, Branko Aleksic, Julian Maller, Rachel Nguyen, Utku Norman, J. Jay Gargus, Donna M. Werling, David J. Cutler, Silvia De Rubeis, Kathryn Roeder, Ryan N. Doan, Sherif Gerges, Joseph D. Buxbaum, Per Magnus, Patrick Turley, Moyra Smith, Isaac N. Pessah, Rebecca J. Schmidt, Chiara Fallerini, Michael E. Talkowski, Carla Lintas, Pål Surén, Paige M. Siper, Duncan S. Palmer, Timothy W. Yu, Michael S. Breen, Sven Sandin, Esben Agerbo, Rich Belliveau, Antonio M. Persico, Elaine Cristina Zachi, Matthew W. State, Karoline Teufel, Margaret A. Pericak-Vance, Caitlin E. Carey, Ryan Collins, Lambertus Klei, Lara Tang, Mads V. Hollegaard, Ole Mors, Iuliana Ionita-Laza, Elisa Giorgio, Astanand Jugessur, Gerry Schellenberg, Christopher A. Walsh, A. Ercument Cicek, Caroline Dias, Gun Peggy Knudsen, Louise Gallagher, Elise B. Robinson, Abraham Reichenberg, Judith Miller, Ashley Dumont, Flora Tassone, Grace Schwartz, Peter Szatmari, Jacqueline I. Goldstein, Evelise Riberi, Brian H.Y. Chung, Stephen W. Scherer, Fátima Lopes, Jesslyn Jamison, Thomas Werge, Mara Parellada, Gabriela Soares, Hilary Coon, Shan Dong, Terho Lehtimäki, Norio Ozaki, Lauren A. Weiss, Susan L. Santangelo, F. Kyle Satterstrom, Daniel P. Howrigan, Emily Hansen-Kiss, Anders D. Børglum, Vivek Appadurai, Maria Rita Passos-Bueno, Hailiang Huang, Marcus C.Y. Chan, Eric M. Morrow, Stephen J. Guter, Catalina Betancur, Ditte Demontis, Matthew W. Mosconi, Pierandrea Muglia, Joanna Martin, Jack A. Kosmicki, Christine M. Freitag, Suma Jacob, W. Ian Lipkin, Angel Carracedo, Mark J. Daly, Andreas G. Chiocchetti, Eduarda Montenegro M. de Souza, Carsten Bøcker Pedersen, Isabela Maya Wahys Silva, Elizabeth E. Guerrero, Mafalda Barbosa, A. Jeremy Willsey, Maureen Mulhern, Claire Churchhouse, Raymond K. Walters, Timothy Poterba, Alessandra Renieri, Emilie M. Wigdor, Lauren M. Schmitt, Jennifer L. Moran, Mullin H.C. Yu, Edwin H. Cook, Jiebiao Wang, Behrang Mahjani, Kaitlin E. Samocha, Kaija Puura, Xin He, Ezra Susser, Aarno Palotie, Bernardo Dalla Bernardina, Montserrat Fernández-Prieto, Thomas Damm Als, Mykyta Artomov, Emma Wilkinson, Mads E. Hauberg, Enrico Domenici, Joon Yong An, Christine Søholm Hansen, Somer L. Bishop, Idan Menashe, So Lun Lee, Marianne Giørtz Pedersen, Alfredo Brusco, Nancy J. Minshew, Michael E. Zwick, Jesper Buchhave Poulsen, Elaine T. Lim, Benjamin M. Neale, Harrison Brand, Danielle Halpern, Elisabetta Trabetti, Alexander Kolevzon, Christine Stevens, Aurora Currò, Miia Kaartinen, Gal Meiri, Richard Anney, Søren Dalsgaard, Minshi Peng, Kimberly Chambert, Brooke Sheppard, Yunin Ludena, James S. Sutcliffe, Marie Bækvad-Hansen, Xinyi Xu, Audrey Thurm, Itaru Kushima, Michael Gill, Irva Hertz-Picciotto, Jonatan Pallesen, Stephan Ripke, Dara S. Manoach, Giovanni Battista Ferrero, Nell Maltman, Michael L. Cuccaro, David M. Hougaard, Javier González-Peñas, Wesley K. Thompson, Felecia Cerrato, Danielle de Paula Moreira, Jonas Bybjerg-Grauholm, Alicia R. Martin, Merete Nordentoft, John A. Sweeney, Alfonso Buil, Tarjinder Singh, Bernie Devlin, Jakob Grove, Daniel H. Geschwind, Manuel Mattheisen, Patrícia Maciel, Preben Bo Mortensen, Andrew J. Schork, Ryan Yuen, Christina M. Hultman, Maria del Pilar Trelles, Aparna Bhaduri, Sabine Schlitt, Diego Lopergolo
Publikováno v:
Cell
Cell, Elsevier, 2020, 180 (3), pp.568-584.e23. ⟨10.1016/j.cell.2019.12.036⟩
Satterstrom, F K, Kosmicki, J A, Wang, J, Breen, M S, De Rubeis, S, An, J Y, Peng, M, Collins, R, Grove, J, Klei, L, Stevens, C, Reichert, J, Mulhern, M S, Artomov, M, Gerges, S, Sheppard, B, Xu, X, Bhaduri, A, Norman, U, Brand, H, Schwartz, G, Nguyen, R, Guerrero, E E, Dias, C, Autism Sequencing Consortium, iPSYCH-Broad Consortium & Børglum, A D 2020, ' Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism ', Cell, vol. 180, no. 3, pp. 568-584.e23 . https://doi.org/10.1016/j.cell.2019.12.036
Autism Sequencing Consortium & Mortensen, P B 2020, ' Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism ', Cell, vol. 180, no. 3, pp. 568-584.e23 . https://doi.org/10.1016/j.cell.2019.12.036
Cell, 2020, 180 (3), pp.568-584.e23. ⟨10.1016/j.cell.2019.12.036⟩
Cell, Elsevier, 2020, 180 (3), pp.568-584.e23. ⟨10.1016/j.cell.2019.12.036⟩
Satterstrom, F K, Kosmicki, J A, Wang, J, Breen, M S, De Rubeis, S, An, J Y, Peng, M, Collins, R, Grove, J, Klei, L, Stevens, C, Reichert, J, Mulhern, M S, Artomov, M, Gerges, S, Sheppard, B, Xu, X, Bhaduri, A, Norman, U, Brand, H, Schwartz, G, Nguyen, R, Guerrero, E E, Dias, C, Autism Sequencing Consortium, iPSYCH-Broad Consortium & Børglum, A D 2020, ' Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism ', Cell, vol. 180, no. 3, pp. 568-584.e23 . https://doi.org/10.1016/j.cell.2019.12.036
Autism Sequencing Consortium & Mortensen, P B 2020, ' Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism ', Cell, vol. 180, no. 3, pp. 568-584.e23 . https://doi.org/10.1016/j.cell.2019.12.036
Cell, 2020, 180 (3), pp.568-584.e23. ⟨10.1016/j.cell.2019.12.036⟩
International audience; We present the largest exome sequencing study of autism spectrum disorder (ASD) to date (n = 35,584 total samples, 11,986 with ASD). Using an enhanced analytical framework to integrate de novo and case-control rare variation,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7f7b88cb815d29ba4171a1d3556d3c44
https://www.hal.inserm.fr/inserm-03135343
https://www.hal.inserm.fr/inserm-03135343
Autor:
Corneliu A. Bodea, Benjamin M. Neale, Stephan Ripke, Mark J. Daly, Bernie Devlin, Kathryn Roeder, Murray Barclay, Laurent Peyrin-Biroulet, Mathias Chamaillard, Jean-Frederick Colombel, Mario Cottone, Anthony Croft, Renata D’Incà, Jonas Halfvarson, Katherine Hanigan, Paul Henderson, Jean-Pierre Hugot, Amir Karban, Nicholas A. Kennedy, Mohammed Azam Khan, Marc Lémann, Arie Levine, Dunecan Massey, Monica Milla, Grant W. Montgomery, Sok Meng Evelyn Ng, Ioannis Oikonomou, Harald Peeters, Deborah D. Proctor, Jean-Francois Rahier, Rebecca Roberts, Paul Rutgeerts, Frank Seibold, Laura Stronati, Kirstin M. Taylor, Leif Törkvist, Kullak Ublick, Johan Van Limbergen, Andre Van Gossum, Morten H. Vatn, Hu Zhang, Wei Zhang, Jane M. Andrews, Peter A. Bampton, Timothy H. Florin, Richard Gearry, Krupa Krishnaprasad, Ian C. Lawrance, Gillian Mahy, Graham Radford-Smith, Rebecca L. Roberts, Lisa A. Simms, Leila Amininijad, Isabelle Cleynen, Olivier Dewit, Denis Franchimont, Michel Georges, Debby Laukens, Emilie Theatre, André Van Gossum, Severine Vermeire, Guy Aumais, Leonard Baidoo, Arthur M. Barrie, Karen Beck, Edmond-Jean Bernard, David G. Binion, Alain Bitton, Steve R. Brant, Judy H. Cho, Albert Cohen, Kenneth Croitoru, Lisa W. Datta, Colette Deslandres, Richard H. Duerr, Debra Dutridge, John Ferguson, Joann Fultz, Philippe Goyette, Gordon R. Greenberg, Talin Haritunians, Gilles Jobin, Seymour Katz, Raymond G. Lahaie, Dermot P. McGovern, Linda Nelson, Sok Meng Ng, Kaida Ning, Pierre Paré, Miguel D. Regueiro, John D. Rioux, Elizabeth Ruggiero, L. Philip Schumm, Marc Schwartz, Regan Scott, Yashoda Sharma, Mark S. Silverberg, Denise Spears, A. Hillary Steinhart, Joanne M. Stempak, Jason M. Swoger, Constantina Tsagarelis, Clarence Zhang, Hongyu Zhao, Jan Aerts, Tariq Ahmad, Hazel Arbury, Anthony Attwood, Adam Auton, Stephen G. Ball, Anthony J. Balmforth, Chris Barnes, Jeffrey C. Barrett, Inês Barroso, Anne Barton, Amanda J. Bennett, Sanjeev Bhaskar, Katarzyna Blaszczyk, John Bowes, Oliver J. Brand, Peter S. Braund, Francesca Bredin, Gerome Breen, Morris J. Brown, Ian N. Bruce, Jaswinder Bull, Oliver S. Burren, John Burton, Jake Byrnes, Sian Caesar, Niall Cardin, Chris M. Clee, Alison J. Coffey, John M.C. Connell, Donald F. Conrad, Jason D. Cooper, Anna F. Dominiczak, Kate Downes, Hazel E. Drummond, Darshna Dudakia, Andrew Dunham, Bernadette Ebbs, Diana Eccles, Sarah Edkins, Cathryn Edwards, Anna Elliot, Paul Emery, David M. Evans, Gareth Evans, Steve Eyre, Anne Farmer, Nicol Ferrier, Edward Flynn, Alistair Forbes, Liz Forty, Jayne A. Franklyn, Timothy M. Frayling, Rachel M. Freathy, Eleni Giannoulatou, Polly Gibbs, Paul Gilbert, Katherine Gordon-Smith, Emma Gray, Elaine Green, Chris J. Groves, Detelina Grozeva, Rhian Gwilliam, Anita Hall, Naomi Hammond, Matt Hardy, Pile Harrison, Neelam Hassanali, Husam Hebaishi, Sarah Hines, Anne Hinks, Graham A. Hitman, Lynne Hocking, Chris Holmes, Eleanor Howard, Philip Howard, Joanna M.M. Howson, Debbie Hughes, Sarah Hunt, John D. Isaacs, Mahim Jain, Derek P. Jewell, Toby Johnson, Jennifer D. Jolley, Ian R. Jones, Lisa A. Jones, George Kirov, Cordelia F. Langford, Hana Lango-Allen, G. Mark Lathrop, James Lee, Kate L. Lee, Charlie Lees, Kevin Lewis, Cecilia M. Lindgren, Meeta Maisuria-Armer, Julian Maller, John Mansfield, Jonathan L. Marchini, Paul Martin, Dunecan C.O. Massey, Wendy L. McArdle, Peter McGuffin, Kirsten E. McLay, Gil McVean, Alex Mentzer, Michael L. Mimmack, Ann E. Morgan, Andrew P. Morris, Craig Mowat, Patricia B. Munroe, Simon Myers, William Newman, Elaine R. Nimmo, Michael C. O’Donovan, Abiodun Onipinla, Nigel R. Ovington, Michael J. Owen, Kimmo Palin, Aarno Palotie, Kirstie Parnell, Richard Pearson, David Pernet, John R.B. Perry, Anne Phillips, Vincent Plagnol, Natalie J. Prescott, Inga Prokopenko, Michael A. Quail, Suzanne Rafelt, Nigel W. Rayner, David M. Reid, Anthony Renwick, Susan M. Ring, Neil Robertson, Samuel Robson, Ellie Russell, David St Clair, Jennifer G. Sambrook, Jeremy D. Sanderson, Stephen J. Sawcer, Helen Schuilenburg, Carol E. Scott, Richard Scott, Sheila Seal, Sue Shaw-Hawkins, Beverley M. Shields, Matthew J. Simmonds, Debbie J. Smyth, Elilan Somaskantharajah, Katarina Spanova, Sophia Steer, Jonathan Stephens, Helen E. Stevens, Kathy Stirrups, Millicent A. Stone, David P. Strachan, Zhan Su, Deborah P.M. Symmons, John R. Thompson, Wendy Thomson, Martin D. Tobin, Mary E. Travers, Clare Turnbull, Damjan Vukcevic, Louise V. Wain, Mark Walker, Neil M. Walker, Chris Wallace, Margaret Warren-Perry, Nicholas A. Watkins, John Webster, Michael N. Weedon, Anthony G. Wilson, Matthew Woodburn, B. Paul Wordsworth, Chris Yau, Allan H. Young, Eleftheria Zeggini, Matthew A. Brown, Paul R. Burton, Mark J. Caulfield, Alastair Compston, Martin Farrall, Stephen C.L. Gough, Alistair S. Hall, Andrew T. Hattersley, Adrian V.S. Hill, Christopher G. Mathew, Marcus Pembrey, Jack Satsangi, Michael R. Stratton, Jane Worthington, Matthew E. Hurles, Audrey Duncanson, Willem H. Ouwehand, Miles Parkes, Nazneen Rahman, John A. Todd, Nilesh J. Samani, Dominic P. Kwiatkowski, Mark I. McCarthy, Nick Craddock, Panos Deloukas, Peter Donnelly, Jenefer M. Blackwell, Elvira Bramon, Juan P. Casas, Aiden Corvin, Janusz Jankowski, Hugh S. Markus, Colin N.A. Palmer, Robert Plomin, Anna Rautanen, Richard C. Trembath, Ananth C. Viswanathan, Nicholas W. Wood, Chris C.A. Spencer, Gavin Band, Céline Bellenguez, Colin Freeman, Garrett Hellenthal, Matti Pirinen, Amy Strange, Hannah Blackburn, Suzannah J. Bumpstead, Serge Dronov, Matthew Gillman, Alagurevathi Jayakumar, Owen T. McCann, Jennifer Liddle, Simon C. Potter, Radhi Ravindrarajah, Michelle Ricketts, Matthew Waller, Paul Weston, Sara Widaa, Pamela Whittaker
Publikováno v:
American journal of human genetics, Vol. 98, no. 5, p. 857-868 (2016)
A. Palotie on työryhmän Int IBD Genetics Consortium jäsen. One goal of human genetics is to understand the genetic basis of disease, a challenge for diseases of complex inheritance because risk alleles are few relative to the vast set of benign va
Autor:
Benjamin M. Neale, Stephen Sanders, Julian Maller, Thomas Werge, Beate St Pourcain, Jakob Grove, Preben Bo Mortensen, Stephan Ripke, David M. Evans, George Davey Smith, Verneri Anttila, Kaitlin E. Samocha, David Skuse, David M. Hougaard, Elise B. Robinson, Mark J. Daly, Anders D. Børglum, Joanna Martin, Jack A. Kosmicki, Brendan Bulik-Sullivan, Mads V. Hollegaard, Angelica Ronald
Publikováno v:
Nature Genetics
Nature genetics
Publons
Robinson, E B, St Pourcain, B, Anttila, V, Kosmicki, J A, Bulik-Sullivan, B, Grove, J, Maller, J, Samocha, K E, Sanders, S J, Ripke, S, Martin, J, Hollegaard, M V, Werge, T, Hougaard, D M, Neale, B M, Evans, D M, Skuse, D, Mortensen, P B, Børglum, A D, Ronald, A, Smith, G D, Daly, M J, iPSYCH-SSI-Broad Autism Group & Als, T D 2016, ' Genetic risk for autism spectrum disorders and neuropsychiatric variation in the general population ', Nature Genetics, vol. 48, pp. 552–555 . https://doi.org/10.1038/ng.3529
Nature genetics
Publons
Robinson, E B, St Pourcain, B, Anttila, V, Kosmicki, J A, Bulik-Sullivan, B, Grove, J, Maller, J, Samocha, K E, Sanders, S J, Ripke, S, Martin, J, Hollegaard, M V, Werge, T, Hougaard, D M, Neale, B M, Evans, D M, Skuse, D, Mortensen, P B, Børglum, A D, Ronald, A, Smith, G D, Daly, M J, iPSYCH-SSI-Broad Autism Group & Als, T D 2016, ' Genetic risk for autism spectrum disorders and neuropsychiatric variation in the general population ', Nature Genetics, vol. 48, pp. 552–555 . https://doi.org/10.1038/ng.3529
Almost all genetic risk factors for autism spectrum disorders (ASDs) can be found in the general population, but the effects of this risk are unclear in people not ascertained for neuropsychiatric symptoms. Using several large ASD consortium and popu
Autor:
Francesco Lescai, David M. Hougaard, Ole Mors, Merete Nordentoft, Tarjinder Singh, Jonas Bybjerg-Grauholm, Marie Bækvad-Hansen, Elise B. Robinson, Julian Maller, Christine Stevens, Jakob Grove, Neale Bm, Preben Bo Mortensen, Emilie M. Wigdor, Satterstrom Fk, Anders D. Børglum, Jack A. Kosmicki, Ditte Demontis, Thomas Werge, Duncan S. Palmer, Raymond K. Walters, Mark J. Daly
Autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD) are substantially heritable, but individuals with psychiatric diagnoses often do not have blood drawn as part of routine medical procedure, making it difficult to coll
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b722bdd82fc0919cf1139673ac384e48
Autor:
Julian Maller, Patrick Turley, Benjamin M. Neale, Terje Nærland, Bettella F, Elise B. Robinson, Manuel Mattheisen, A. Palotie, Evald Saemundsen, Jennifer L. Moran, Stacy Steinberg, Hong-Hee Won, E. Agerbo, Daniel P. Howrigan, Mark J. Daly, Srdjan Djurovic, St Pourcain B, Richard Anney, Jacqueline I. Goldstein, Marianne Giørtz Pedersen, Jennifer Reichert, A. Reichenberg, Kimberly Chambert, Bernie Devlin, Felecia Cerrato, Joanna Martin, Satterstrom Fk, Kathryn Roeder, Richard A. Belliveau, Stephan Ripke, De Rubeis S, Robin G. Walters, Hailiang Huang, Mette Nyegaard, Walters Gb, Jakob Grove, Ditte Demontis, Karola Rehnström, David M. Hougaard, Ole Mors, Sigrun Hope, Preben Bo Mortensen, Mads V. Hollegaard, Joseph D. Buxbaum, Sven Sandin, Cathy A. Stevens, Ole A. Andreassen, Duncan Palmer, Jesper Buchhave Poulsen, Carsten Bøcker Pedersen, Patrick F. Sullivan, Thomas Werge, Jane H. Christensen, Christine Søholm Hansen, Timothy Poterba, Jonatan Pallesen, Claire Churchhouse, Thomas Damm Als, Mads E. Hauberg, Anders D. Børglum, Jonas Bybjerg-Grauholm, Lambertus Klei, Kari Stefansson, Alicia R. Martin, Per Qvist, Ashley Dumont, Hreinn Stefansson, Panagiotis Roussos, Karin Dellenvall, George Davey Smith, Daniel H. Geschwind, Marie Bækved-Hansen, Merete Nordentoft, Christina M. Hultman, Xinyi Xu
Autism spectrum disorder (ASD) is a highly heritable and heterogeneous group of neurodevelopmental phenotypes diagnosed in more than 1% of children. Common genetic variants contribute substantially to ASD susceptibility, but to date no individual var
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9cd088a09a257b1d7781a34c29d98972
https://doi.org/10.1101/224774
https://doi.org/10.1101/224774
Autor:
Zamin Iqbal, Oliver Venn, Peter Humburg, Adam Auton, John Broxholme, Gil McVean, Adi Fledel-Alon, Cord Melton, Simon Myers, Molly Przeworski, Julian Maller, Ryan D. Hernandez, Rory Bowden, Ivy Aneas, Ellen M. Leffler, Teresa L Street, Aarti Venkat, Marcelo A. Nobrega, Gerton Lunter, Susanne P. Pfeifer, Laure Ségurel, Ronald E. Bontrop, Peter Donnelly
Publikováno v:
Science
Science, American Association for the Advancement of Science, 2012, 336 (6078), pp.193-198. ⟨10.1126/science.1216872⟩
Science, American Association for the Advancement of Science, 2012, 336 (6078), pp.193-198. ⟨10.1126/science.1216872⟩
Going Ape Over Genetic Maps Recombination is an important process in generating diversity and producing selectively advantageous genetic combinations. Thus, changes in recombination hotspots may influence speciation. To investigate the variation in r
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b69423afa39223bf7b7d38c1e4df32d3
https://doi.org/10.1126/science.1216872
https://doi.org/10.1126/science.1216872
Autor:
Morris J. Brown, Sanjeev S. Bhaskar, Alison J. Coffey, Suzanne Rafelt, Kirsten McLay, John Bowes, Francesca Bredin, Alastair Compston, John C. Mansfield, Elaine R. Nimmo, Kate Downes, Peter McGuffin, Neil Walker, Anthony J. Balmforth, Philip Howard, Detelina Grozeva, Helen Stevens, Kate L. Lee, Richard D. Pearson, Gerome Breen, T. Daniel Andrews, Sheila Seal, Anna Elliot, Beverley M. Shields, Andrew T. Hattersley, Sarah Edkins, Ann E. Morgan, Gil McVean, Julian Maller, Millicent A. Stone, Adam Auton, Carol Scott, Michael R. Stratton, Matthew Woodburn, John R. B. Perry, Michael Conlon O'Donovan, Nigel P. Carter, Vincent Plagnol, Stephen Sawcer, Sarah Hines, Mahim Jain, Allan H. Young, Steve Eyre, Elilan Somaskantharajah, Alexander J. Mentzer, Niall Cardin, Eleanor Howard, Inês Barroso, Stephen C. L. Gough, Toby Johnson, Deborah P M Symmons, Christopher Holmes, David St Clair, Patricia B. Munroe, Sue Shaw-Hawkins, Emma Gray, Stephen W. Scherer, Tariq Ahmad, Jaswinder Bull, Debbie Hughes, E. Russell, Timothy M. Frayling, Chris Clee, I. Nicol Ferrier, James Lee, Dominic P. Kwiatkowski, Husam Hebaishi, Anne Hinks, Simon Myers, Gareth Evans, Eleftheria Zeggini, Katarina Spanova, Michael L. Mimmack, David M. Reid, Amanda J. Bennett, Richard T. Scott, Armand Valsesia, Derek P. Jewell, Andrew P. Morris, Peter Donnelly, Mark J. Caulfield, Jake K. Byrnes, Lars Feuk, Pile Harrison, Anna F. Dominiczak, Cathryn Edwards, Andrew Dunham, Dalila Pinto, Inga Prokopenko, Ian Jones, Craig Mowat, Nigel R. Ovington, Willem H. Ouwehand, Edward Flynn, Jason D. Cooper, Louise V. Wain, Alistair Forbes, Bernadette Ebbs, Jennifer Jolley, Jonathan Marchini, Peter S. Braund, Ifejinelo Onyiah, Mark Walker, Adrian V. S. Hill, Cordelia Langford, Anne M. Phillips, George Kirov, David P. Strachan, Oliver S. Burren, Martin D. Tobin, Anthony G. Wilson, Ian N. Bruce, Hana Lango-Allen, Alistair S. Hall, Natalie J. Prescott, Charles Lee, Clare Turnbull, Cecilia M. Lindgren, John D. Isaacs, Jack Satsangi, Liz Forty, John M. C. Connell, Neelam Hassanali, Hazel E. Drummond, Matthew A. Brown, John A. Todd, Joanna M. M. Howson, Jennifer G. Sambrook, Graham A. Hitman, Michael N. Weedon, Christopher Yau, Abiodun Onipinla, Kathy Stirrups, Chris Tyler-Smith, Darshna Dudakia, G. Mark Lathrop, Katherine Gordon-Smith, Nazneen Rahman, Christopher J. Groves, William G. Newman, Kirstie Parnell, Stephen G. Ball, Tomas W Fitzgerald, Paul Gilbert, Kevin Lewis, Charlie W. Lees, Polly Gibbs, Rachel M. Freathy, Aarno Palotie, Katarzyna Blaszczyk, Matthew E. Hurles, Jonathan Stephens, Lynne J. Hocking, Nicholas A. Watkins, Christopher G. Mathew, Helen Schuilenburg, David Pernet, Eleni Giannoulatou, Kimmo Palin, Nigel W. Rayner, Donald F. Conrad, Susan M. Ring, John R. Thompson, Debbie J. Smyth, Wendy L. McArdle, B. Paul Wordsworth, David M. Evans, Dunecan Massey, Naomi Hammond, Diana Eccles, Panos Deloukas, Sian Caesar, Chris P. Barnes, Sophia Steer, Anthony Attwood, Chris Wallace, Richard Redon, Paul Burton, Anne Barton, Marcus Pembrey, Michael John Owen, Jane Worthington, Mary E. Travers, Jeremy D. Sanderson, Meeta Maisuria-Armer, Elaine K. Green, Michael A. Quail, Oliver J. Brand, Anne Farmer, Matthew J. Simmonds, Neil Robertson, Nicholas John Craddock, Zhan Su, Jan Aerts, Martin Farrall, Hazel Arbury, Damjan Vukcevic, Paul Emery, Omer Gokumen, A Hall, Wendy Thomson, Jeffrey C. Barrett, Margaret Warren-Perry, Rhian Gwilliam, Sarah E. Hunt, Samuel Robson, Paul Martin, Audrey Duncanson, Anthony Renwick, John Webster, Lisa Jones, Mark I. McCarthy, Nilesh J. Samani, Matthew Hardy, Miles Parkes, John Burton, Jayne A. Franklyn
Publikováno v:
Nature
Nature, 2010, 464 (7289), pp.713-720. ⟨10.1038/nature08979⟩
Nature, Nature Publishing Group, 2010, 464 (7289), pp.713-720. ⟨10.1038/nature08979⟩
U86
Nature, 2010, 464 (7289), pp.713-720. ⟨10.1038/nature08979⟩
Nature, Nature Publishing Group, 2010, 464 (7289), pp.713-720. ⟨10.1038/nature08979⟩
U86
Copy number variants (CNVs) account for a major proportion of human genetic polymorphism and have been predicted to have an important role in genetic susceptibility to common disease. To address this we undertook a large, direct genome-wide study of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aabf06404a0287e631ec3785ace540b3
https://doi.org/10.1038/nature08979
https://doi.org/10.1038/nature08979
Autor:
Thomas Werge, Merete Nordentoft, Christine Stevens, Christian M. Hagen, Jun Wang, Francesco Lescai, Mads V. Hollegaard, Julian Maller, Mark J. Daly, Shenting Li, Jakob Grove, Preben Bo Mortensen, Anders D. Børglum, Jihua Sun, Qibin Li, Marie Bækvad-Hansen, Jonas Bybjerg-Grauholm, Michael Christiansen, David M. Hougaard, Jesper Buchhave Poulsen
Publikováno v:
Poulsen, J B, Lescai, F, Grove, J, Bækvad-Hansen, M, Christiansen, M, Hagen, C M, Maller, J, Stevens, C, Li, S, Li, Q, Sun, J, Wang, J, Nordentoft, M, Werge, T M, Mortensen, P B, Børglum, A D, Daly, M, Hougaard, D M, Bybjerg-Grauholm, J & Hollegaard, M V 2016, ' High-Quality Exome Sequencing of Whole-Genome Amplified Neonatal Dried Blood Spot DNA ', PLOS ONE, vol. 11, no. 4, pp. e0153253 . https://doi.org/10.1371/journal.pone.0153253
PLoS ONE, Vol 11, Iss 4, p e0153253 (2016)
PLoS ONE
Poulsen, J B, Lescai, F, Grove, J, Bækvad-Hansen, M, Christiansen, M, Hagen, C M, Maller, J, Stevens, C, Li, S, Li, Q, Sun, J, Wang, J, Nordentoft, M, Werge, T M, Mortensen, P B, Børglum, A D, Daly, M, Hougaard, D M, Bybjerg-Grauholm, J & Hollegaard, M V 2016, ' High-Quality Exome Sequencing of Whole-Genome Amplified Neonatal Dried Blood Spot DNA ', P L o S One, vol. 11, no. 4, e0153253 . https://doi.org/10.1371/journal.pone.0153253
PLoS ONE, Vol 11, Iss 4, p e0153253 (2016)
PLoS ONE
Poulsen, J B, Lescai, F, Grove, J, Bækvad-Hansen, M, Christiansen, M, Hagen, C M, Maller, J, Stevens, C, Li, S, Li, Q, Sun, J, Wang, J, Nordentoft, M, Werge, T M, Mortensen, P B, Børglum, A D, Daly, M, Hougaard, D M, Bybjerg-Grauholm, J & Hollegaard, M V 2016, ' High-Quality Exome Sequencing of Whole-Genome Amplified Neonatal Dried Blood Spot DNA ', P L o S One, vol. 11, no. 4, e0153253 . https://doi.org/10.1371/journal.pone.0153253
Stored neonatal dried blood spot (DBS) samples from neonatal screening programmes are a valuable diagnostic and research resource. Combined with information from national health registries they can be used in population-based studies of genetic disea
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https://pure.au.dk/portal/da/publications/highquality-exome-sequencing-of-wholegenome-amplified-neonatal-dried-blood-spot-dna(e02c8dbb-79a8-4f9f-bb13-e22900e72dc1).html