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Wingdield, Jullian Symons, Tom Rhodes, Andrew Pierce and Christopher Walker, Jill Crawshaw, David Powell, Sam Kiley, David Maddock, John Goodbody, Sports News Correspondent, Minette Walters, Nicholas Freeling, P. D. James,
... mill Spoilt little rich boy, retro addict, fascist - Crispian Mills has had his share of labels, But ... horror The Hacienda My Venezuelan Years By Lisa St Aubin de… In hot water Open Sesame By ...
1998 - Gale Group | TDA
Kathleen M. Gorman, Esther Meyer, Detelina Grozeva, Egidio Spinelli, Amy McTague, Alba Sanchis‐Juan, Keren Carss, Emily Bryant, Adi Reich, Amy L. Schneider, Ronit Pressler, Michael A. Simpson, Geoff Debelle, Evangeline Wassmer, Jenny Morton, Diana Sieciechowicz, Eric Jan-Kamsteeg, Alex R. Paciorkowski, Mary D. King, J. Helen Cross, Annapurna Poduri, Heather C. Mefford, Ingrid E. Scheffer, Tobias B. Haack, Gary McCullagh, J Gordon Millichap, Gemma L. Carvill, Jill Clayton‐Smith, Eamonn R. Maher, F. Lucy Raymond, Manju A. Kurian, Jeremy F. McRae, Stephen Clayton, Tomas Fitzgerald, Joanna Kaplanis, Elena Prigmore, Diana Rajan, Alejandro Sifrim, Stuart Aitken, Nadia Akawi, Mohsan Alvi, Kirsty Ambridge, Daniel M. Barrett, Tanya Bayzetinova, Philip Jones, Wendy D. Jones, Daniel A. King, Netravathi Krishnappa, Laura E. Mason, Tarjinder Singh, Adrian R. Tivey, Munaza Ahmed, Uruj Anjum, Hayley Archer, Ruth Armstrong, Jana Awada, Meena Balasubramanian, Siddharth Banka, Diana Baralle, Angela Barnicoat, Paul Batstone, David Baty, Chris Bennett, Jonathan Berg, Birgitta Bernhard, A. Paul Bevan, Maria Bitner‐Glindzicz, Edward Blair, Moira Blyth, David Bohanna, Louise Bourdon, David Bourn, Lisa Bradley, Angela Brady, Simon Brent, Carole Brewer, Kate Brunstrom, David J. Bunyan, John Burn, Natalie Canham, Bruce Castle, Kate Chandler, Elena Chatzimichali, Deirdre Cilliers, Angus Clarke, Susan Clasper, Jill Clayton‐Smith, Virginia Clowes, Andrea Coates, Trevor Cole, Irina Colgiu, Amanda Collins, Morag N. Collinson, Fiona Connell, Nicola Cooper, Helen Cox, Lara Cresswell, Gareth Cross, Yanick J. Crow, Mariella D’Alessandro, Tabib Dabir, Rosemarie Davidson, Sally Davies, Dylan H. de Vries, John Dean, Charu Deshpande, Gemma Devlin, Abhijit Dixit, Angus Dobbie, Alan Donaldson, Dian Donnai, Deirdre Donnelly, Carina Donnelly, Angela Douglas, Sofia Douzgou, Alexis E. Duncan, Jacqueline Eason, Sian Ellard, Ian O. Ellis, Frances Elmslie, Karenza Evans, Sarah Everest, Tina Fendick, Richard Fisher, Frances Flinter, Nicola Foulds, Andrew E. Fry, Alan Fryer, Carol Gardiner, Lorraine Gaunt, Neeti Ghali, Richard J. Gibbons, Harinder Gill, Judith Goodship, David Goudie, Emma Gray, Andrew Green, Philip Greene, Lynn Greenhalgh, Susan Gribble, Rachel Harrison, Lucy Harrison, Victoria Harrison, Rose Hawkins, Liu He, Stephen Hellens, Alex Henderson, Sarah Hewitt, Lucy Hildyard, Emma Hobson, Simon Holden, Muriel Holder, Susan Holder, Georgina Hollingsworth, Tessa Homfray, Mervyn Humphreys, Jane A. Hurst, Ben Hutton, Stuart Ingram, Melita Irving, Lily Islam, Andrew P. Jackson, Joanna Jarvis, Lucy Jenkins, Diana Johnson, Elizabeth Jones, Dragana Josifova, Shelagh Joss, Beckie Kaemba, Sandra Kazembe, Rosemary E. Kelsell, Bronwyn Kerr, Helen Kingston, Usha Kini, Esther Kinning, Gail Kirby, Claire Kirk, Emma Kivuva, Alison Kraus, Dhavendra Kumar, Vipul Kumar, Katherine Lachlan, Wayne Lam, Anne Lampe, Caroline Langman, Melissa Lees, Derek Lim, Cheryl Longman, Gordon Lowther, Sally Ann Lynch, Alex Magee, E.R. Maher, Alison Male, Sahar Mansour, Karen Marks, Katherine Martin, Una Maye, Emma McCann, Vivienne McConnell, Meriel McEntagart, Ruth McGowan, Kirsten McKay, Shane McKee, Dominic McMullan, Susan McNerlan, Catherine McWilliam, Sarju Mehta, Kay Metcalfe, Anna Middleton, Zosia Miedzybrodzka, Emma Miles, Shehla Mohammed, Tara Montgomery, David Moore, Siân Morgan, Jenny Morton, Hood Mugalaasi, Victoria Murday, Helen Murphy, Swati Naik, Andrea H. Németh, Louise Nevitt, Ruth Newbury‐Ecob, Andrew Norman, Rosie O’Shea, Caroline Mackie Ogilvie, Kai‐Ren Ong, Soo‐Mi Park, Michael Parker, Chirag J. Patel, Joan Paterson, Stewart J. Payne, Daniel Perrett, Julie Phipps, Daniela T. Pilz, Martin Pollard, Caroline Pottinger, Joanna Poulton, Norman Pratt, Katrina Prescott, Sue Price, Abigail Pridham, Annie Procter, Hellen Purnell, Oliver Quarrell, Nicola Ragge, Raheleh Rahbari, Josh Randall, Julia Rankin, Lucy Raymond, Debbie Rice, Leema Robert, Eileen Roberts, Jonathan Roberts, Paul Roberts, Gillian Roberts, Alison Ross, Elisabeth Rosser, Anand Saggar, Shalaka Samant, Julian R. Sampson, Richard Sandford, Ajoy Sarkar, Susann Schweiger, Richard H. Scott, Ingrid Scurr, Ann Selby, A Seller, Cheryl Sequeira, Nora Shannon, Saba Sharif, Charles Shaw‐Smith, Emma Shearing, Debbie Shears, Eamonn Sheridan, Ingrid Simonic, Roldan Singzon, Zara Skitt, Audrey Smith, Kath Smith, Sarah Smithson, Linda Sneddon, Miranda Splitt, Miranda Squires, Fiona Stewart, Helen Stewart, Volker Straub, Mohnish Suri, V. Reid Sutton, G. Jawahar Swaminathan, Elizabeth Sweeney, Kate Tatton‐Brown, Cat Taylor, Rohan Taylor, Mark Tein, I. Karen Temple,
The occurrence of non-epileptic hyperkinetic movements in the context of developmental epileptic encephalopathies is an increasingly recognized phenomenon. Identification of causative mutations provides an important insight into common pathogenic mechanisms that cause both seizures and abnormal motor control. We report bi-allelic loss-of-function CACNA1B variants in six children from three unrelated families whose affected members present with a complex and progressive neurological syndrome. All ...
Elsevier BV
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... Confidence University of Glamorgan Multiple Classified Advertising Items Peters & Peters GGY Graham Gill & Young CCH Cch Editions Limited ...
1996 - Gale Group | TDA
Peter Taylor, Eleonora Porcu, Shelby Chew, Purdey J. Campbell, Michela Traglia, Suzanne J. Brown, Benjamin H. Mullin, Hashem A. Shihab, Josine L. Min, Klaudia Walter, Yasin Memari, Jie Huang, Michael R. Barnes, John Beilby, Pimphen Charoen, Petr Danecek, Frank Dudbridge, Vincenzo Forgetta, Celia M.T. Greenwood, Elin Grundberg, Andrew D. Johnson, Jennie Hui, Ee Mun Lim, Shane McCarthy, Dawn Muddyman, Vijay Panicker, John R. B. Perry, Jordana T. Bell, Yuan Wei, Caroline L. Relton, Tom R. Gaunt, David Schlessinger, Gonçalo R. Abecasis, Francesco Cucca, Gabriela Surdulescu, Wolfram Woltersdorf, Eleftheria Zeggini, Hou‐Feng Zheng, Daniela Toniolo, Colin Dayan, Silvia Naitza, John P. Walsh, Tim D. Spector, George Davey Smith, Richard Durbin, J. Brent Richards, Serena Sanna, Nicole Soranzo, Nicholas J. Timpson, Scott G. Wilson, Saeed Al Turki, Carl A. Anderson, Richard Anney, Dinu Antony, María Soler Artigas, Muhammad Ayub, Senduran Balasubramaniam, Jeffrey C. Barrett, Inês Barroso, Phil Beales, Jamie Bentham, Shoumo Bhattacharya, Ewan Birney, Douglas Blackwood, Martin Bobrow, Elena G. Bochukova, Patrick Bolton, Rebecca Bounds, Chris Boustred, Gerome Breen, Mattia Calissano, Keren Carss, Krishna Chatterjee, Lu Chen, Antonio Ciampi, Sebhattin Cirak, Peter Clapham, Gail Clement, Guy Coates, David Collier, Catherine Cosgrove, Tony Cox, Nick Craddock, Lucy Crooks, Sarah Curran, David Curtis, Allan Daly, Aaron G. Day‐Williams, Ian N. M. Day, Thomas A. Down, Yuanping Du, Ian Dunham, Sarah Edkins, Peter Ellis, David M. Evans, Sadaf Faroogi, Ghazaleh Fatemifar, David Fitzpatrick, Paul Flicek, James Flyod, A. Reghan Foley, Christopher S. Franklin, Marta Futema, Louise Gallagher, Matthias Geihs, Daniel Geschwind, Heather Griffin, Detelina Grozeva, Xueqin Guo, Xiaosen Guo, Hugh Gurling, Deborah Hart, Audrey E. Hendricks, Peter Holmans, Bryan Howie, Jie Huang, Tim Hubbard, Steve E. Humphries, Matthew E. Hurles, Pirro G. Hysi, David K. Jackson, Yalda Jamshidi, Jing Tian, Christopher Joyce, Jane Kaye, Thomas Keane, Julia M. Keogh, John P. Kemp, Karen Kennedy, Anja Kolb-Kokocinski, Geneviève Lachance, Cordelia Langford, Daniel Lawson, Irene Lee, Monkol Lek, Jieqin Liang, Honghuang Lin, Rui Li, Rui Li, Ryan Liu, Jouko Lönnqvist, Margarida Lopes, Valentina Iotchkova, Daniel G. MacArthur, Jonathan Marchini, John Maslen, Mangino Massimo, Iain Mathieson, Gaëlle Marenne, Peter McGuffin, Andrew M. McIntosh, Andrew G. McKechanie, Andrew McQuillin, Sarah Metrustry, Hannah M. Mitchison, Alireza Moayyeri, James Morris, Francesco Muntoni, Kate Northstone, Michael O'Donnovan, Alexandros Onoufriadis, Stephen O’Rahilly, Karim Oualkacha, Michael J. Owen, Aarno Palotie, Kalliope Panoutsopoulou, Victoria Parker, Jeremy Parr, Lavinia Paternoster, Tiina Paunio, Felicity Payne, Olli Pietiläinen, Vincent Plagnol, Lydia Quaye, Michael A. Quail, Lucy Raymond, Karola Rehnström, Susan M. Ring, Graham R. S. Ritchie, Nicola D. Roberts, David B. Savage, Peter Scambler, Stephen Schiffels, Miriam Schmidts, Nadia Schoenmakers, Robert K. Semple, Eva Serra, Sally I. Sharp, So-Youn Shin, David Skuse, Kerrin S. Small, Lorraine Southam, Olivera Spasić-Bošković, David St Clair, Jim Stalker, Elizabeth Stevens, Beate St Pourcian, Jianping Sun, Jaana Suvisaari, Ionna Tachmazidou, Martin D. Tobin, Ana M. Valdes, Margriet van Kogelenberg, Parthiban Vijayarangakannan, Peter M. Visscher, Louise V. Wain, James Walters, Guangbiao Wang, Jun Wang, Yu Wang, Kirsten Ward, Eleanor Wheeler, Tamieka Whyte, Hywel Williams, Kathleen A. Williamson, Crispian Wilson, Kim Wong, Changjiang Xu, Jian Yang, F. Zhang, Pingbo Zhang,
Normal thyroid function is essential for health, but its genetic architecture remains poorly understood. Here, for the heritable thyroid traits thyrotropin (TSH) and free thyroxine (FT4), we analyse whole-genome sequence data from the UK10K project (N=2,287). Using additional whole-genome sequence and deeply imputed data sets, we report meta-analysis results for common variants (MAF≥1%) associated with TSH and FT4 (N=16,335). For TSH, we identify a novel variant in SYN2 (MAF=23.5%, P=6.15 × 10(-9)) and ...
Tópico(s): Thyroid Cancer Diagnosis and Treatment
2015 - Nature Portfolio | Nature Communications
... Robin Hood) to its parent and original, the St Crispian speech in William Shakespeare's King Henry V ... Abelard and Heloise (New York, NY: Penguin, 2004). Peter Dronke, Abelard and Heloise in Medieval Testimonies (Glasgow: The University of Glasgow Press, 1976). Constant J. Mews, Abelard and Heloise (Oxford: Oxford University Press, 2005). Constant J. Mews, The Lost Love Letters of Heloise and Abelard: Perceptions of Dialogue in Twelfth‐Century France (New York, NY: St. Martin's Press, 1999). Barbara Newman, ‘Authority, Authenticity, ...
Tópico(s): Folklore, Mythology, and Literature Studies
2008 - Wiley | History Compass
Audrey E. Hendricks, Elena G. Bochukova, Gaëlle Marenne, Julia M. Keogh, Neli Atanassova, Rebecca Bounds, Eleanor Wheeler, Vanisha Mistry, Elana Henning, Antje Körner, Dawn Muddyman, Shane McCarthy, Anke Hinney, Johannes Hebebrand, Robert A. Scott, Claudia Langenberg, Nicholas J. Wareham, Praveen Surendran, Joanna M. M. Howson, Adam S. Butterworth, John Danesh, Børge G. Nordestgaard, Sune F. Nielsen, Shoaib Afzal, Sofia Papadia, Sofie Ashford, Sumedha Garg, Glenn L. Millhauser, Rafael I. Palomino, Alexandra Kwasniewska, Ioanna Tachmazidou, Stephen O’Rahilly, Eleftheria Zeggini, Inês Barroso, I. Sadaf Farooqi, Michaela Benzeval, Jonathan Burton, Nicholas Buck, Annette Jäckle, Meena Kumari, Heather Laurie, Peter Lynn, Stephen Pudney, Birgitta Rabe, Dieter Wolke, Kim Overvad, Anne Tjønneland, Francoise Clavel-Chapelon, Rudolf Kaaks, Heiner Boeing, Antonia Trichopoulou, Pietro Ferrari, Domenico Palli, Vittorio Krogha, Salvatore Panico, Rosario Tuminoa, Giuseppe Matullo, Jolanda M.A. Boer, Yvonne T. van der Schouw, Elisabete Weiderpass, J. Ramón Quirós, María‐José Sánchez, Carmen Navarro, Conchi Moreno‐Iribas, Larraitz Arriola, Olle Melander, Patrik Wennberg, Timothy J. Key, Elio Ríboli, Saeed Al Turki, Carl A. Anderson, Richard Anney, Dinu Antony, María Soler Artigas, Muhammad Ayub, Senduran Bala, Jeffrey C. Barrett, Phil Beales, Jamie Bentham, Shoumo Bhattacharyaa, Ewan Birney, Douglas Blackwooda, Martin Bobrow, Patrick Bolton, Chris Boustred, Gerome Breen, Mattia Calissanoa, Keren Carss, Ruth Charlton, Krishna Chatterjee, Lu Chen, Antonio Ciampia, Sebahattin Çırak, Peter Clapham, Gail Clement, Guy Coates, Massimiliano Coccaa, David Collier, Catherine Cosgrove, Tony Coxa, Nick Craddock, Lucy Crooks, Sarah Curran, David Curtis, Allan Daly, Petr Danecek, Ian N. M. Day, Aaron G. Day‐Williams, Anna F. Dominiczak, Thomas A. Down, Yuanping Du, Ian Dunham, Richard Durbin, Sarah Edkins, Rosemary Ekong, Peter Ellis, David M. Evansa, David Fitzpatrick, Paul Flicek, James Floyd, A. Reghan Foley, Christopher S. Franklin, Marta Futema, Louise Gallagher, Tom R. Gaunt, Matthias Geihs, Daniel Geschwind, Celia M.T. Greenwood, Heather Griffin, Detelina Grozeva, Xiaosen Guo, Xueqin Guo, Hugh Gurling, Deborah Hart, Peter Holmans, Bryan Howie, Jie Huang, Jie Huang, Tim Hubbard, Steve E. Humphries, Matthew E. Hurles, Pirro G. Hysi, Valentina Iotchkova, David K. Jackson, Yalda Jamshidi, Christopher Joyce, Konrad J. Karczewski, Jane Kaye, Thomas Keane, John P. Kemp, Karen L. Kennedy, Alastair Kent, Farrah Khawaja, Margriet van Kogelenberg, Anja Kolb‐Kokocinski, Geneviève Lachance, Cordelia Langford, Daniel J. Lawson, Irene Lee, Monkol Lek, Rui Li, Rui Li, Jieqin Liang, Hong Lin, Ryan Liu, Jouko Lönnqvist, Luís R. Lopes, Margarida Lopes, Daniel G. MacArthur, Massimo Mangino, Jonathan Marchini, John Maslen, Iain Mathieson, Peter McGuffin, Andrew M. McIntosh, Andrew G. McKechanie, Andrew McQuillin, Yasin Memari, Sarah Metrustry, Nicola Migone, Josine L. Min, Hannah M. Mitchison, Alireza Moayyeri, Andrew P. Morris, James Morris, Francesco Muntoni, Kate Northstone, Michael O’Donovan, Alexandros Onoufriadis, Karim Oualkacha, Michael J. Owen, Aarno Palotie, Kalliope Panoutsopoulou, Victoria Parker, Jeremy Parr, Lavinia Paternoster, Tiina Paunio, Felicity Payne, Stewart J. Payne, John R. B. Perry, Olli Pietiläinen, Vincent Plagnol, Rebecca C. Pollitt, David J. Porteous, Sue Povey, Michael A. Quail, Lydia Quaye, F. Lucy Raymond, Karola Rehnström, J. Brent Richards, Cheryl K. Ridout, Susan M. Ring, Graham R. S. Ritchie, Nicola Roberts, Rachel L. Robinson, David B. Savage, Peter Scambler, Stephan Schiffels, Miriam Schmidts, Nadia Schoenmakers, Richard H. Scott, Robert K. Semple, Eva Serra, Sally I. Sharp, Adam Shaw, Hashem A. Shihab, So-Youn Shin, David Skuse, Kerrin S. Small, Carol Smee, Blair H. Smith, George Davey Smith, Nicole Soranzo, Lorraine Southam, Olivera Spasic-Boskovic, Timothy D. Spector, David St Clair, Beaté St Pourcain, Jim Stalker, Elizabeth Stevens, Jianping Sun, Gabriela Surdulescu, Jaana Suvisaari, Petros Syrris, Rohan Taylor, Jing Tian, Nicholas J. Timpson, Martin D. Tobin, Ana M. Valdes, Anthony M. Vandersteen, Parthiban Vijayarangakannan, Peter M. Visscher, Louise V. Wain, Klaudia Walter, James Walters, Guangbiao Wang, Jun Wang, Yu Wang, Kirsten Ward, Tamieka Whyte, Hywel Williams, Kathleen A. Williamson, Crispian Wilson, Scott G. Wilson, Kim Wong, Changjiang Xu, Jian Yang, Feng Zhang, Pingbo Zhang, Hou-Feng Zheng,
Abstract Obesity is a genetically heterogeneous disorder. Using targeted and whole-exome sequencing, we studied 32 human and 87 rodent obesity genes in 2,548 severely obese children and 1,117 controls. We identified 52 variants contributing to obesity in 2% of cases including multiple novel variants in GNAS , which were sometimes found with accelerated growth rather than short stature as described previously. Nominally significant associations were found for rare functional variants in BBS1 , BBS9 , GNAS , ...
Nature Portfolio | Scientific Reports
Simon Haworth, Chin Yang Shapland, Caroline Hayward, Bram P. Prins, Janine F. Felix, Carolina Medina‐Gómez, Fernando Rivadeneira, Carol A. Wang, Tarunveer S. Ahluwalia, Martine Vrijheid, Mònica Guxens, Jordi Sunyer, Ioanna Tachmazidou, Klaudia Walter, Valentina Iotchkova, Andrew P. Jackson, Louise Cleal, Jennifer Huffmann, Josine L. Min, Lærke Sass, Paul R. H. J. Timmers, Saeed Al Turki, Carl A. Anderson, Richard Anney, Dinu Antony, María Soler Artigas, Muhammad Ayub, Senduran Bala, Jeffrey C. Barrett, Inês Barroso, Phil Beales, Jamie Bentham, Shoumo Bhattacharya, Ewan Birney, Douglas Blackwood, Martin Bobrow, Elena G. Bochukova, Patrick Bolton, Rebecca Bounds, Chris Boustred, Gerome Breen, Mattia Calissano, Keren Carss, Ruth Charlton, Krishna Chatterjee, Lu Chen, Antonio Ciampi, Sebahattin Çırak, Peter Clapham, Gail Clement, Guy Coates, Massimiliano Cocca, David Collier, Catherine Cosgrove, Tony Cox, Nick Craddock, Lucy Crooks, Sarah Curran, David Curtis, Allan Daly, Petr Danecek, Ian N. M. Day, Aaron G. Day‐Williams, Anna F. Dominiczak, Thomas A. Down, Yuanping Du, Ian Dunham, Richard Durbin, Sarah Edkins, Rosemary Ekong, Peter Ellis, David M. Evans, I. Sadaf Farooqi, David Fitzpatrick, Paul Flicek, James Floyd, A. Reghan Foley, Christopher S. Franklin, Marta Futema, Louise Gallagher, Tom R. Gaunt, Matthias Geihs, Daniel Geschwind, Celia M.T. Greenwood, Heather Griffin, Detelina Grozeva, Xiaosen Guo, Xueqin Guo, Hugh Gurling, Deborah Hart, Audrey E. Hendricks, Peter Holmans, Bryan Howie, Jie Huang, Jie Huang, Tim Hubbard, Steve E. Humphries, Matthew E. Hurles, Pirro G. Hysi, David K. Jackson, Yalda Jamshidi, Christopher Joyce, Konrad J. Karczewski, Jane Kaye, Thomas Keane, John P. Kemp, Karen L. Kennedy, Alastair Kent, Julia M. Keogh, Farrah Khawaja, Margriet van Kogelenberg, Anja Kolb‐Kokocinski, Geneviève Lachance, Cordelia Langford, Daniel J. Lawson, Irene Lee, Monkol Lek, Rui Li, Yingrui Li, Jieqin Liang, Hong Lin, Ryan Liu, Jouko Lönnqvist, Luís R. Lopes, Margarida Lopes, Daniel G. MacArthur, Massimo Mangino, Jonathan Marchini, Gaëlle Marenne, John Maslen, Iain Mathieson, Shane McCarthy, Peter McGuffin, Andrew M. McIntosh, Andrew G. McKechanie, Andrew McQuillin, Yasin Memari, Sarah Metrustry, Nicola Migone, Hannah M. Mitchison, Alireza Moayyeri, Andrew D. Morris, James Morris, Dawn Muddyman, Francesco Muntoni, Kate Northstone, Michael O’Donovan, Stephen O’Rahilly, Alexandros Onoufriadis, Karim Oualkacha, Michael J. Owen, Aarno Palotie, Kalliope Panoutsopoulou, Victoria Parker, Jeremy Parr, Lavinia Paternoster, Tiina Paunio, Felicity Payne, Stewart J. Payne, John R. B. Perry, Olli Pietiläinen, Vincent Plagnol, Rebecca C. Pollitt, David J. Porteous, Sue Povey, Michael A. Quail, Lydia Quaye, F. Lucy Raymond, Karola Rehnström, J. Brent Richards, Cheryl K. Ridout, Susan M. Ring, Graham R. S. Ritchie, Nicola Roberts, Rachel L. Robinson, David B. Savage, Peter Scambler, Stephan Schiffels, Miriam Schmidts, Nadia Schoenmakers, Richard H. Scott, Robert K. Semple, Eva Serra, Sally I. Sharp, Adam Shaw, Hashem A. Shihab, So–Youn Shin, David Skuse, Kerrin S. Small, Carol Smee, Blair H. Smith, Nicole Soranzo, Lorraine Southam, Olivera Spasić-Bošković, Timothy D. Spector, David St Clair, Jim Stalker, Elizabeth Stevens, Jianping Sun, Gabriela Surdulescu, Jaana Suvisaari, Petros Syrris, Rohan Taylor, Jing Tian, Martin D. Tobin, Ana M. Valdes, Anthony M. Vandersteen, Parthiban Vijayarangakannan, Peter M. Visscher, Louise V. Wain, James Walters, Guangbiao Wang, Jun Wang, Yu Wang, Kirsten Ward, Eleanor Wheeler, Tamieka Whyte, Hywel Williams, Kathleen A. Williamson, Crispian Wilson, Scott G. Wilson, Kim Wong, Changjiang Xu, Jian Yang, Feng Zhang, Pingbo Zhang, Hou‐Feng Zheng, George Davey Smith, Simon E. Fisher, James F. Wilson, Tim Cole, Dietmar Fernández‐Orth, Klaus Bønnelykke, Hans Bisgaard, Craig E. Pennell, Vincent W. V. Jaddoe, George Dedoussis, Nicholas J. Timpson, Eleftheria Zeggini, Véronique Vitart, Beaté St Pourcain,
Abstract Cranial growth and development is a complex process which affects the closely related traits of head circumference (HC) and intracranial volume (ICV). The underlying genetic influences shaping these traits during the transition from childhood to adulthood are little understood, but might include both age-specific genetic factors and low-frequency genetic variation. Here, we model the developmental genetic architecture of HC, showing this is genetically stable and correlated with genetic determinants ...
Tópico(s): Genomics and Chromatin Dynamics
2019 - Nature Portfolio | Nature Communications
Jie Huang, Bryan Howie, Shane McCarthy, Yasin Memari, Klaudia Walter, Josine L. Min, Petr Danecek, Giovanni Malerba, Elisabetta Trabetti, Hou‐Feng Zheng, Saeed Al Turki, Antoinette Amuzu, Carl A. Anderson, Richard Anney, Dinu Antony, María Soler Artigas, Muhammad Ayub, Senduran Bala, Jeffrey C. Barrett, Inês Barroso, Phil Beales, Marianne Benn, Jamie Bentham, Shoumo Bhattacharya, Ewan Birney, Douglas Blackwood, Martin Bobrow, Elena G. Bochukova, Patrick Bolton, Rebecca Bounds, Chris Boustred, Gerome Breen, Mattia Calissano, Keren Carss, Juan P. Casas, John C. Chambers, Ruth Charlton, Krishna Chatterjee, Lu Chen, Antonio Ciampi, Sebahattin Çırak, Peter Clapham, Gail Clement, Guy Coates, Massimiliano Cocca, David Collier, Catherine Cosgrove, Tony Cox, Nick Craddock, Lucy Crooks, Sarah Curran, David Curtis, Allan Daly, Ian N.M. Day, Aaron G. Day‐Williams, George Dedoussis, Thomas A. Down, Yuanping Du, Cornelia M. van Duijn, Ian Dunham, Sarah Edkins, Rosemary Ekong, Peter Ellis, David M. Evans, I. Sadaf Farooqi, David Fitzpatrick, Paul Flicek, James Floyd, A. Reghan Foley, Christopher S. Franklin, Marta Futema, Louise Gallagher, Paolo Gasparini, Tom R. Gaunt, Matthias Geihs, Daniel H. Geschwind, Celia M.T. Greenwood, Heather Griffin, Detelina Grozeva, Xiaosen Guo, Xueqin Guo, Hugh Gurling, Deborah Hart, Audrey E. Hendricks, Peter Holmans, Jie Huang, Tim Hubbard, Steve E. Humphries, Matthew E. Hurles, Pirro G. Hysi, Valentina Iotchkova, Aaron Isaacs, David K. Jackson, Yalda Jamshidi, Jon Johnson, Christopher Joyce, Konrad J. Karczewski, Jane Kaye, Thomas Keane, John P. Kemp, Karen Kennedy, Alastair Kent, Julia M. Keogh, Farrah Khawaja, Marcus E. Kleber, Margriet van Kogelenberg, Anja Kolb-Kokocinski, Jaspal S. Kooner, Geneviève Lachance, Claudia Langenberg, Cordelia Langford, Daniel J. Lawson, Irene Lee, Jin‐Moo Lee, Monkol Lek, Rui Li, Rui Li, Jieqin Liang, Hong Lin, Ryan Liu, Jouko Lönnqvist, Luís R. Lopes, Margarida Lopes, Jian’an Luan, Daniel G. MacArthur, Massimo Mangino, Gaëlle Marenne, Winfried März, John Maslen, Angela Matchan, Iain Mathieson, Peter McGuffin, Andrew M. McIntosh, Andrew G. McKechanie, Andrew McQuillin, Sarah Metrustry, Nicola Migone, Hannah M. Mitchison, Alireza Moayyeri, James Morris, Richard Morris, Dawn Muddyman, Francesco Muntoni, Børge G. Nordestgaard, Kate Northstone, Michael O’Donovan, Stephen O’Rahilly, Alexandros Onoufriadis, Karim Oualkacha, Michael J. Owen, Aarno Palotie, Kalliope Panoutsopoulou, Victoria Parker, Jeremy Parr, Lavinia Paternoster, Tiina Paunio, Felicity Payne, Stewart J. Payne, John R. B. Perry, Olli Pietiläinen, Vincent Plagnol, Rebecca C. Pollitt, Sue Povey, Michael A. Quail, Lydia Quaye, Lucy Raymond, Karola Rehnström, Cheryl K. Ridout, Susan M. Ring, Graham R. S. Ritchie, Nicola Roberts, Rachel L. Robinson, David B. Savage, Peter Scambler, Stephan Schiffels, Miriam Schmidts, Nadia Schoenmakers, Richard H. Scott, Robert A. Scott, Robert K. Semple, Eva Serra, Sally I. Sharp, Adam Shaw, Hashem A. Shihab, So–Youn Shin, David Skuse, Kerrin S. Small, Carol Smee, George Davey Smith, Lorraine Southam, Olivera Spasić-Bošković, Timothy D. Spector, David St Clair, Beaté St Pourcain, Jim Stalker, Elizabeth Stevens, Jianping Sun, Gabriela Surdulescu, Jaana Suvisaari, Petros Syrris, Ioanna Tachmazidou, Rohan Taylor, Jing Tian, Martin D. Tobin, Daniela Toniolo, Michela Traglia, Anne Tybjærg‐Hansen, Ana M. Valdes, Anthony M. Vandersteen, Anette Varbo, Parthiban Vijayarangakannan, Peter M. Visscher, Louise V. Wain, James Walters, Guangbiao Wang, Jun Wang, Yu Wang, Kirsten Ward, Eleanor Wheeler, Peter H. Whincup, Tamieka Whyte, Hywel Williams, Kathleen A. Williamson, Crispian Wilson, Scott G. Wilson, Kim Wong, Changjiang Xu, Jian Yang, Gianluigi Zaza, Eleftheria Zeggini, Feng Zhang, Pingbo Zhang, Weihua Zhang, Giovanni Gambaro, J. Brent Richards, Richard Durbin, Nicholas J. Timpson, Jonathan Marchini, Nicole Soranzo,
Imputing genotypes from reference panels created by whole-genome sequencing (WGS) provides a cost-effective strategy for augmenting the single-nucleotide polymorphism (SNP) content of genome-wide arrays. The UK10K Cohorts project has generated a data set of 3,781 whole genomes sequenced at low depth (average 7x), aiming to exhaustively characterize genetic variation down to 0.1% minor allele frequency in the British population. Here we demonstrate the value of this resource for improving imputation ...
Tópico(s): Genetic and phenotypic traits in livestock
2015 - Nature Portfolio | Nature Communications
Klaudia Walter, Josine L. Min, Jie Huang, Lucy Crooks, Yasin Memari, Shane McCarthy, John R. B. Perry, Changjiang Xu, Marta Futema, Daniel Lawson, Valentina Iotchkova, Stephan Schiffels, Audrey E. Hendricks, Petr Danecek, Rui Li, James S. Floyd, Louise V. Wain, Inês Barroso, Steve E. Humphries, Matthew E. Hurles, Eleftheria Zeggini, Jeffrey C. Barrett, Vincent Plagnol, J. Brent Richards, Celia M. T. Greenwood, Nicholas J. Timpson, Richard Durbin, Nicole Soranzo, Senduran Bala, Peter Clapham, Guy Coates, Tony Cox, Allan Daly, Petr Danecek, Yuanping Du, Richard Durbin, Sarah Edkins, Peter Ellis, Paul Flicek, Xiaosen Guo, Xueqin Guo, Jie Huang, David K. Jackson, Christopher Joyce, Thomas Keane, Anja Kolb-Kokocinski, Cordelia Langford, Rui Li, Jieqin Liang, Hong Lin, Ryan Liu, John Maslen, Shane McCarthy, Dawn Muddyman, Michael A. Quail, Jim Stalker, Jianping Sun, Jing Tian, Guangbiao Wang, Jun Wang, Yu Wang, Kim Wong, Pingbo Zhang, Inês Barroso, Ewan Birney, Chris Boustred, Lu Chen, Gail Clement, Massimiliano Cocca, Petr Danecek, George Davey Smith, Ian N.M. Day, Aaron G. Day‐Williams, Thomas A. Down, Ian Dunham, Richard Durbin, David M. Evans, Tom R. Gaunt, Matthias Geihs, Celia M. T. Greenwood, Deborah Hart, Audrey E. Hendricks, Bryan Howie, Jie Huang, Tim Hubbard, Pirro G. Hysi, Valentina Iotchkova, Yalda Jamshidi, Konrad J. Karczewski, John P. Kemp, Geneviève Lachance, Daniel Lawson, Monkol Lek, Margarida Lopes, Daniel G. MacArthur, Jonathan Marchini, Massimo Mangino, Iain Mathieson, Shane McCarthy, Yasin Memari, Sarah Metrustry, Josine L. Min, Alireza Moayyeri, Dawn Muddyman, Kate Northstone, Kalliope Panoutsopoulou, Lavinia Paternoster, John R. B. Perry, Lydia Quaye, J. Brent Richards, Susan M. Ring, Graham R. S. Ritchie, Stephan Schiffels, Hashem A. Shihab, So–Youn Shin, Kerrin S. Small, María Soler Artigas, Nicole Soranzo, Lorraine Southam, Timothy D. Spector, Beaté St Pourcain, Gabriela Surdulescu, Ioanna Tachmazidou, Nicholas J. Timpson, Martin D. Tobin, Ana M. Valdes, Peter M. Visscher, Louise V. Wain, Klaudia Walter, Kirsten Ward, Scott G. Wilson, Kim Wong, Jian Yang, Eleftheria Zeggini, Feng Zhang, Hou-Feng Zheng, Richard Anney, Muhammad Ayub, Jeffrey C. Barrett, Douglas Blackwood, Patrick Bolton, Gerome Breen, David Collier, Nick Craddock, Lucy Crooks, Sarah Curran, David Curtis, Richard Durbin, Louise Gallagher, Daniel Geschwind, Hugh Gurling, Peter Holmans, Irene Lee, Jouko Lönnqvist, Shane McCarthy, Peter McGuffin, Andrew M. McIntosh, Andrew G. McKechanie, Andrew McQuillin, James Morris, Dawn Muddyman, Michael O’Donovan, Michael J. Owen, Aarno Palotie, Jeremy Parr, Tiina Paunio, Olli Pietiläinen, Karola Rehnström, Sally I. Sharp, David Skuse, David St Clair, Jaana Suvisaari, James Walters, Hywel Williams, Inês Barroso, Elena G. Bochukova, Rebecca Bounds, Anna F. Dominiczak, Richard Durbin, I. Sadaf Farooqi, Audrey E. Hendricks, Julia M. Keogh, Gaëlle Marenne, Shane McCarthy, Andrew D. Morris, Dawn Muddyman, Stephen O’Rahilly, David J. Porteous, Blair H. Smith, Ioanna Tachmazidou, Eleanor Wheeler, Eleftheria Zeggini, Saeed Al Turki, Carl A. Anderson, Dinu Antony, Inês Barroso, Phil Beales, Jamie Bentham, Shoumo Bhattacharya, Mattia Calissano, Keren Carss, Krishna Chatterjee, Sebahattin Çırak, Catherine Cosgrove, Richard Durbin, David Fitzpatrick, James Floyd, A. Reghan Foley, Christopher S. Franklin, Marta Futema, Detelina Grozeva, Steve E. Humphries, Matthew E. Hurles, Shane McCarthy, Hannah M. Mitchison, Dawn Muddyman, Francesco Muntoni, Stephen O’Rahilly, Alexandros Onoufriadis, Victoria Parker, Felicity Payne, Vincent Plagnol, F. Lucy Raymond, Nicola D. Roberts, David B. Savage, Peter Scambler, Miriam Schmidts, Nadia Schoenmakers, Robert K. Semple, Eva Serra, Olivera Spasić-Bošković, Elizabeth Stevens, Margriet van Kogelenberg, Parthiban Vijayarangakannan, Klaudia Walter, Kathleen A. Williamson, Crispian Wilson, Tamieka Whyte, Antonio Ciampi, Celia M. T. Greenwood, Audrey E. Hendricks, Rui Li, Sarah Metrustry, Karim Oualkacha, Ioanna Tachmazidou, Changjiang Xu, Eleftheria Zeggini, Martin Bobrow, Patrick Bolton, Richard Durbin, David Fitzpatrick, Heather Griffin, Matthew E. Hurles, Jane Kaye, Karen L. Kennedy, Alastair Kent, Dawn Muddyman, Francesco Muntoni, F. Lucy Raymond, Robert K. Semple, Carol Smee, Timothy D. Spector, Nicholas J. Timpson, Ruth Charlton, Rosemary Ekong, Marta Futema, Steve E. Humphries, Farrah Khawaja, Luís R. Lopes, Nicola Migone, Stewart J. Payne, Vincent Plagnol, Rebecca C. Pollitt, Sue Povey, Cheryl K. Ridout, Rachel L. Robinson, Richard H. Scott, Adam Shaw, Petros Syrris, Rohan Taylor, Anthony M. Vandersteen, Jeffrey C. Barrett, Inês Barroso, George Davey Smith, Richard Durbin, I. Sadaf Farooqi, David Fitzpatrick, Matthew E. Hurles, Jane Kaye, Karen L. Kennedy, Cordelia Langford, Shane McCarthy, Dawn Muddyman, Michael J. Owen, Aarno Palotie, J. Brent Richards,
The contribution of rare and low-frequency variants to human traits is largely unexplored. Here we describe insights from sequencing whole genomes (low read depth, 7×) or exomes (high read depth, 80×) of nearly 10,000 individuals from population-based and disease collections. In extensively phenotyped cohorts we characterize over 24 million novel sequence variants, generate a highly accurate imputation reference panel and identify novel alleles associated with levels of triglycerides (APOB), adiponectin ( ...
Nature Portfolio
Nicholas J. Timpson, Klaudia Walter, Josine L. Min, Ioanna Tachmazidou, Giovanni Malerba, So–Youn Shin, Lu Chen, Marta Futema, Lorraine Southam, Valentina Iotchkova, Massimiliano Cocca, Jie Huang, Yasin Memari, Shane McCarthy, Petr Danecek, Dawn Muddyman, Massimo Mangino, Cristina Menni, John R. B. Perry, Susan M. Ring, Amadou Gaye, George Dedoussis, Aliki‐Eleni Farmaki, Paul R. Burton, Philippa J. Talmud, Giovanni Gambaro, Tim D. Spector, George Davey Smith, Richard Durbin, J. Brent Richards, Steve E. Humphries, Eleftheria Zeggini, Nicole Soranzo, Saeed Al Turki, Carl A. Anderson, Richard Anney, Dinu Antony, María Soler Artigas, Muhammad Ayub, Senduran Balasubramaniam, Jeffrey C. Barrett, Inês Barroso, Phil Beales, Jamie Bentham, Shoumo Bhattacharya, Ewan Birney, Douglas Blackwood, Martin Bobrow, Elena G. Bochukova, Patrick Bolton, Rebecca Bounds, Chris Boustred, Gerome Breen, Mattia Calissano, Keren Carss, Krishna Chatterjee, Lu Chen, Antonio Ciampi, Sebhattin Cirak, Peter Clapham, Gail Clement, Guy Coates, David Collier, Catherine Cosgrove, Tony Cox, Nick Craddock, Lucy Crooks, Sarah Curran, David Curtis, Allan Daly, Petr Danecek, George Davey Smith, Aaron G. Day‐Williams, Ian N.M. Day, Thomas A. Down, Yuanping Du, Ian Dunham, Richard Durbin, Sarah Edkins, Peter Ellis, David M. Evans, Sadaf Faroogi, Ghazaleh Fatemifar, David Fitzpatrick, Paul Flicek, James Flyod, A. Reghan Foley, Christopher S. Franklin, Marta Futema, Louise Gallagher, Tom R. Gaunt, Matthias Geihs, Daniel Geschwind, Celia M.T. Greenwood, Heather Griffin, Detelina Grozeva, Xueqin Guo, Xiaosen Guo, Hugh Gurling, Deborah Hart, Audrey E. Hendricks, Peter Holmans, Bryan Howie, Jie Huang, Jie Huang, Tim Hubbard, Steve E. Humphries, Matthew E. Hurles, Pirro G. Hysi, David K. Jackson, Yalda Jamshidi, Jing Tian, Christopher Joyce, Jane Kaye, Thomas Keane, Julia M. Keogh, John P. Kemp, Karen Kennedy, Anja Kolb‐Kokocinski, Geneviève Lachance, Cordelia Langford, Daniel J. Lawson, Irene Lee, Monkol Lek, Jieqin Liang, Hong Lin, Rui Li, Rui Li, Ryan Liu, Jouko Lönnqvist, Margarida Lopes, Valentina Lotchkova, Daniel G. MacArthur, Jonathan Marchini, John Maslen, Mangino Massimo, Iain Mathieson, Gaëlle Marenne, Shane McCarthy, Peter McGuffin, Andrew M. McIntosh, Andrew G. McKechanie, Andrew McQuillin, Yasin Memari, Sarah Metrustry, Josine L. Min, Hannah M. Mitchison, Alireza Moayyeri, James Morris, Dawn Muddyman, Francesco Muntoni, Kate Northstone, Michael O'Donnovan, Alexandros Onoufriadis, Stephen O’Rahilly, Karim Oualkacha, Michael J. Owen, Aarno Palotie, Kalliope Panoutsopoulou, Victoria Parker, Jeremy Parr, Lavinia Paternoster, Tiina Paunio, Felicity Payne, John R. B. Perry, Olli Pietiläinen, Vincent Plagnol, Lydia Quaye, Michael A. Quail, Lucy Raymond, Karola Rehnström, J. Brent Richards, Susan M. Ring, Graham R. S. Ritchie, Nicola D. Roberts, David B. Savage, Peter Scambler, Stephen Schiffels, Miriam Schmidts, Nadia Schoenmakers, Robert K. Semple, Eva Serra, Sally I. Sharp, Hasheem Shihab, So–Youn Shin, David Skuse, Kerrin S. Small, Nicole Soranzo, Lorraine Southam, Olivera Spasić-Bošković, Tim D. Spector, David St Clair, Jim Stalker, Elizabeth R. Stevens, Beate St Pourcian, Jianping Sun, Gabriela Surdulescu, Jaana Suvisaari, Ionna Tachmazidou, Nicholas J. Timpson, Martin D. Tobin, Ana M. Valdes, Margriet van Kogelenberg, Parthiban Vijayarangakannan, Peter M. Visscher, Louise V. Wain, Klaudia Walter, James Walters, Guangbiao Wang, Jun Wang, Yu Wang, Kirsten Ward, Eleanor Wheeler, Tamieka Whyte, Hywel Williams, Kathleen A. Williamson, Crispian Wilson, Scott G. Wilson, Kim Wong, Changjiang Xu, Jian Yang, Eleftheria Zeggini, F. Zhang, Pingbo Zhang, Hou-Feng Zheng,
Abstract The analysis of rich catalogues of genetic variation from population-based sequencing provides an opportunity to screen for functional effects. Here we report a rare variant in APOC3 (rs138326449-A, minor allele frequency ~0.25% (UK)) associated with plasma triglyceride (TG) levels (−1.43 s.d. (s.e.=0.27 per minor allele ( P -value=8.0 × 10 −8 )) discovered in 3,202 individuals with low read-depth, whole-genome sequence. We replicate this in 12,831 participants from five additional samples of Northern ...
Tópico(s): Peroxisome Proliferator-Activated Receptors
2014 - Nature Portfolio | Nature Communications