Not logged in Better statistical reporting does not lead to statistical rigour: lessons from two decades of pseudoreplication in mouse-model studies of neurological disorders Eleftheriou, Constantinos; Giachetti, Sarah; Hickson, Raven; Kamnioti-Dumont, Laura; Templaar, Robert; Aaltonen, Alina; Tsoukala, Eleni; Kim, Nawon; Fryer-Petridis, Lysandra; Henley, Chloe; Erdem, Ceren; Wilson, Emma; Maio, Beatriz; Ye, Jingjing; Pierce, Jessica C.; Mazur, Kath; Landa-Navarro, Lucia; Petrovic, Nina G.; Bendova, Sarah; Woods, Hanan; Rizzi, Manuela; Salazar-Sanchez, Vanesa; Anstey, Natasha; Asiminas, Antonios; Basu, Shinjini; Booker, Sam A.; Harris, Anjanette; Heyes, Sam; Jackson, Adam; Crocker-Buque, Alex; McMahon, Aoife C.; Till, Sally M.; Wijetunge, Lasani S.; Wyllie, David J. A.; Abbott, Catherine M.; O'Leary, Timothy; Kind, Peter C. Share Save
The NHGRI-EBI GWAS Catalog: standards for reusability, sustainability and diversity Cerezo, Maria; Sollis, Elliot; Ji, Yue; Lewis, Elizabeth; Abid, Ala; Bircan, Karatug Ozan; Hall, Peggy; Hayhurst, James; John, Sajo; Mosaku, Abayomi; Ramachandran, Santhi; Foreman, Amy; Ibrahim, Arwa; McLaughlin, James; Pendlington, Zoe; Stefancsik, Ray; Lambert, Samuel A.; McMahon, Aoife; Morales, Joannella; Keane, Thomas; Inouye, Michael; Parkinson, Helen; Harris, Laura W. Share Save
Enhancing the Polygenic Score Catalog with tools for score calculation and ancestry normalization Lambert, Samuel A.; Wingfield, Benjamin; Gibson, Joel T.; Gil, Laurent; Ramachandran, Santhi; Yvon, Florent; Saverimuttu, Shirin; Tinsley, Emily; Lewis, Elizabeth; Ritchie, Scott C.; Wu, Jingqin; Canovas, Rodrigo; McMahon, Aoife; Harris, Laura W.; Parkinson, Helen; Inouye, Michael Share Save
Evaluation of polygenic scoring methods in five biobanks shows larger variation between biobanks than methods and finds benefits of ensemble learning Monti, Remo; Eick, Lisa; Hudjashov, Georgi; Lall, Kristi; Kanoni, Stavroula; Wolford, Brooke N.; Wingfield, Benjamin; Pain, Oliver; Wharrie, Sophie; Jermy, Bradley; McMahon, Aoife; Hartonen, Tuomo; Heyne, Henrike; Mars, Nina; Lambert, Samuel; Hveem, Kristian; Inouye, Michael; van Heel, David A.; Magi, Reedik; Marttinen, Pekka; Ripatti, Samuli; Ganna, Andrea; Lippert, Christoph Share Save
The Type 2 Diabetes Knowledge Portal: An open access genetic resource dedicated to type 2 diabetes and related traits Costanzo, Maria C.; von Grotthuss, Marcin; Massung, Jeffrey; Jang, Dongkeun; Caulkins, Lizz; Koesterer, Ryan; Gilbert, Clint; Welch, Ryan P.; Kudtarkar, Parul; Hoang, Quy; Boughton, Andrew P.; Singh, Preeti; Sun, Ying; Duby, Marc; Moriondo, Annie; Nguyen, Trang; Smadbeck, Patrick; Alexander, Benjamin R.; Brandes, MacKenzie; Carmichael, Mary; Dornbos, Peter; Green, Todd; Huellas-Bruskiewicz, Kenneth C.; Ji, Yue; Kluge, Alexandria; McMahon, Aoife C.; Mercader, Josep M.; Ruebenacker, Oliver; Sengupta, Sebanti; Spalding, Dylan; Taliun, Daniel; Smith, Philip; Thomas, Melissa K.; Akolkar, Beena; Brosnan, M. Julia; Cherkas, Andriy; Chu, Audrey Y.; Fauman, Eric B.; Fox, Caroline S.; Kamphaus, Tania Nayak; Miller, Melissa R.; Nguyen, Lynette; Parsa, Afshin; Reilly, Dermot F.; Ruetten, Hartmut; Wholley, David; Zaghloul, Norann A.; Abecasis, Goncalo R.; Altshuler, David; Keane, Thomas M.; McCarthy, Mark I.; Gaulton, Kyle J.; Florez, Jose C.; Boehnke, Michael; Burtt, Noel P.; Flannick, Jason Share Save
The NHGRI-EBI GWAS Catalog: knowledgebase and deposition resource Sollis, Elliot; Mosaku, Abayomi; Abid, Ala; Buniello, Annalisa; Cerezo, Maria; Gil, Laurent; Groza, Tudor; Gunes, Osman; Hall, Peggy; Hayhurst, James; Ibrahim, Arwa; Ji, Yue; John, Sajo; Lewis, Elizabeth; MacArthur, Jacqueline A. L.; McMahon, Aoife; Osumi-Sutherland, David; Panoutsopoulou, Kalliope; Pendlington, Zoe; Ramachandran, Santhi; Stefancsik, Ray; Stewart, Jonathan; Whetzel, Patricia; Wilson, Robert; Hindorff, Lucia; Cunningham, Fiona; Lambert, Samuel A.; Inouye, Michael; Parkinson, Helen; Harris, Laura W. Share Save
Perspective Workshop proceedings: GWAS summary statistics standards and sharing Macarthur, Jacqueline A. L.; Buniello, Annalisa; Harris, Laura W.; Hayhurst, James; Mcmahon, Aoife; Sollis, Elliot; Cerezo, Maria; Hall, Peggy; Lewis, Elizabeth; Whetzel, Patricia L.; Bahcall, Orli G.; Barroso, Ines; Carroll, Robert J.; Inouye, Michael; Manolio, Teri A.; Rich, Stephen S.; Hindorff, Lucia A.; Wiley, Ken; Parkinson, Helen Share Save
Sequencing-based genome-wide association studies reporting standards Mcmahon, Aoife; Lewis, Elizabeth; Buniello, Annalisa; Cerezo, Maria; Hall, Peggy; Sollis, Elliot; Parkinson, Helen; Hindorff, Lucia A.; Harris, Laura W.; Macarthur, Jacqueline A. L. Share Save
The Polygenic Score Catalog as an open database for reproducibility and systematic evaluation Lambert, Samuel A.; Gil, Laurent; Jupp, Simon; Ritchie, Scott C.; Xu, Yu; Buniello, Annalisa; McMahon, Aoife; Abraham, Gad; Chapman, Michael; Parkinson, Helen; Danesh, John; MacArthur, Jacqueline A. L.; Inouye, Michael Share Save
Ensembl 2021 Howe, Kevin L.; Achuthan, Premanand; Allen, James; Allen, Jamie; Alvarez-Jarreta, Jorge; Amode, M. Ridwan; Armean, Irina M.; Azov, Andrey G.; Bennett, Ruth; Bhai, Jyothish; Billis, Konstantinos; Boddu, Sanjay; Charkhchi, Mehrnaz; Cummins, Carla; Fioretto, Luca Rin; Davidson, Claire; Dodiya, Kamalkumar; El Houdaigui, Bilal; Fatima, Reham; Gall, Astrid; Giron, Carlos Garcia; Grego, Tiago; Guijarro-Clarke, Cristina; Haggerty, Leanne; Hemrom, Anmol; Hourlier, Thibaut; Izuogu, Osagie G.; Juettemann, Thomas; Kaikala, Vinay; Kay, Mike; Lavidas, Ilias; Le, Tuan; Lemos, Diana; Martinez, Jose Gonzalez; Marugan, Jose Carlos; Maurel, Thomas; McMahon, Aoife C.; Mohanan, Shamika; Moore, Benjamin; Muffato, Matthieu; Oheh, Denye N.; Paraschas, Dimitrios; Parker, Anne; Parton, Andrew; Prosovetskaia, Irina; Sakthivel, Manoj P.; Salam, Ahamed I. Abdul; Schmitt, Bianca M.; Schuilenburg, Helen; Sheppard, N.; Steed, Emily; Szpak, Michal; Szuba, Marek; Taylor, Kieron; Thormann, Anja; Threadgold, Glen; Walts, Brandon; Winterbottom, Andrea; Chakiachvili, Marc; Chaubal, Ameya; De Silva, Nishadi; Flint, Bethany; Frankish, Adam; Hunt, Sarah E.; IIsley, Garth R.; Langridge, Nick; Loveland, Jane E.; Martin, Fergal J.; Mudge, Jonathan M.; Morales, Joanella; Perry, Emily; Ruffier, Magali; Tate, John; Thybert, David; Trevanion, Stephen J.; Cunningham, Fiona; Yates, Andrew D.; Zerbino, Daniel R.; Flicek, Paul Share Save
Ensembl 2020 Yates, Andrew D.; Achuthan, Premanand; Akanni, Wasiu; Allen, James; Allen, Jamie; Alvarez-Jarreta, Jorge; Amode, M. Ridwan; Armean, Irina M.; Azov, Andrey G.; Bennett, Ruth; Bhai, Jyothish; Billis, Konstantinos; Boddu, Sanjay; Marugan, Jose Carlos; Cummins, Carla; Davidson, Claire; Dodiya, Kamalkumar; Fatima, Reham; Gall, Astrid; Giron, Carlos Garcia; Gil, Laurent; Grego, Tiago; Haggerty, Leanne; Haskell, Erin; Hourlier, Thibaut; Izuogu, Osagie G.; Janacek, Sophie H.; Juettemann, Thomas; Kay, Mike; Lavidas, Ilias; Le, Tuan; Lemos, Diana; Martinez, Jose Gonzalez; Maurel, Thomas; McDowall, Mark; McMahon, Aoife; Mohanan, Shamika; Moore, Benjamin; Nuhn, Michael; Oheh, Denye N.; Parker, Anne; Parton, Andrew; Patricio, Mateus; Sakthivel, Manoj Pandian; Salam, Ahamed Imran Abdul; Schmitt, Bianca M.; Schuilenburg, Helen; Sheppard, Dan; Sycheva, Mira; Szuba, Marek; Taylor, Kieron; Thormann, Anja; Threadgold, Glen; Vullo, Alessandro; Walts, Brandon; Winterbottom, Andrea; Zadissa, Amonida; Chakiachvili, Marc; Flint, Bethany; Frankish, Adam; Hunt, Sarah E.; Ilsley, Garth; Kostadima, Myrto; Langridge, Nick; Loveland, Jane E.; Martin, Fergal J.; Morales, Joannella; Mudge, Jonathan M.; Muffato, Matthieu; Perry, Emily; Ruffier, Magali; Trevanion, Stephen J.; Cunningham, Fiona; Howe, Kevin L.; Zerbino, Daniel R.; Flicek, Paul Share Save
IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients (vol 21, pg 837, 2019) Mignot, Cyril; McMahon, Aoife C.; Bar, Claire; Campeau, Philippe M.; Davidson, Claire; Buratti, Julien; Nava, Caroline; Jacquemont, Marie-Line; Tallot, Marilyn; Milh, Mathieu; Edery, Patrick; Marzin, Pauline; Barcia, Giulia; Barnerias, Christine; Besmond, Claude; Bienvenu, Thierry; Bruel, Ange-Line; Brunga, Ledia; Ceulemans, Berten; Coubes, Christine; Cristancho, Ana G.; Cunningham, Fiona; Dehouck, Marie-Bertille; Donner, Elizabeth J.; Duban-Bedu, Benedicte; Dubourg, Christele; Gardella, Elena; Gauthier, Julie; Genevieve, David; Gobin-Limballe, Stephanie; Goldberg, Ethan M.; Hagebeuk, Eveline; Hamdan, Fadi F.; Hancarova, Miroslava; Hubert, Laurence; Ioos, Christine; Ichikawa, Shoji; Janssens, Sandra; Journel, Hubert; Kaminska, Anna; Keren, Boris; Koopmans, Marije; Lacoste, Caroline; Lassuthova, Petra; Lederer, Damien; Lehalle, Daphne; Marjanovic, Dragan; Metreau, Julia; Michaud, Jacques L.; Miller, Kathryn; Minassian, Berge A.; Morales, Joannella; Moutard, Marie-Laure; Munnich, Arnold; Ortiz-Gonzalez, Xilma R.; Pinard, Jean-Marc; Prchalova, Darina; Putoux, Audrey; Quelin, Chloe; Rosen, Alyssa R.; Roume, Joelle; Rossignol, Elsa; Simon, Marleen E. H.; Smol, Thomas; Shur, Natasha; Shelihan, Ivan; Sterbova, Katalin; Vyhnalkova, Emilie; Vilain, Catheline; Soblet, Julie; Smits, Guillaume; Yang, Samuel P.; van der Smagt, Jasper J.; van Hasselt, Peter M.; van Kempen, Marjan; Weckhuysen, Sarah; Helbig, Ingo; Villard, Laurent; Heron, Delphine; Koeleman, Bobby; Moller, Rikke S.; Lesca, Gaetan; Helbig, Katherine L.; Nabbout, Rima; Verbeek, Nienke E.; Depienne, Christel Share Save
IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients Mignot, Cyril; McMahon, Aoife C.; Bar, Claire; Campeau, Philippe M.; Davidson, Claire; Buratti, Julien; Nava, Caroline; Jacquemont, Marie-Line; Tallot, Marilyn; Milh, Mathieu; Edery, Patrick; Marzin, Pauline; Barcia, Giulia; Barnerias, Christine; Besmond, Claude; Bienvenu, Thierry; Bruel, Ange-Line; Brunga, Ledia; Ceulemans, Berten; Coubes, Christine; Cristancho, Ana G.; Cunningham, Fiona; Dehouck, Marie-Bertille; Donner, Elizabeth J.; Duban-Bedu, Benedicte; Dubourg, Christele; Gardella, Elena; Gauthier, Julie; Genevieve, David; Gobin-Limballe, Stephanie; Goldberg, Ethan M.; Hagebeuk, Eveline; Hamdan, Fadi F.; Hancarova, Miroslava; Hubert, Laurence; Ioos, Christine; Ichikawa, Shoji; Janssens, Sandra; Journel, Hubert; Kaminska, Anna; Keren, Boris; Koopmans, Marije; Lacoste, Caroline; Lassuthova, Petra; Lederer, Damien; Lehalle, Daphne; Marjanovic, Dragan; Metreau, Julia; Michaud, Jacques L.; Miller, Kathryn; Minassian, Berge A.; Morales, Joannella; Moutard, Marie-Laure; Munnich, Arnold; Ortiz-Gonzalez, Xilma R.; Pinard, Jean-Marc; Prchalova, Darina; Putoux, Audrey; Quelin, Chloe; Rosen, Alyssa R.; Roume, Joelle; Rossignol, Elsa; Simon, Marleen E. H.; Smol, Thomas; Shur, Natasha; Shelihan, Ivan; Sterbova, Katalin; Vyhnalkova, Emilie; Vilain, Catheline; Soblet, Julie; Smits, Guillaume; Yang, Samuel P.; van der Smagt, Jasper J.; van Hasselt, Peter M.; van Kempen, Marjan; Weckhuysen, Sarah; Helbig, Ingo; Villard, Laurent; Heron, Delphine; Koeleman, Bobby; Moller, Rikke S.; Lesca, Gaetan; Helbig, Katherine L.; Nabbout, Rima; Verbeek, Nienke E.; Depienne, Christel Share Save
The NHGRI-EBI GWAS Catalog of published genome-wide association studies, targeted arrays and summary statistics 2019 Buniello, Annalisa; MacArthur, Jacqueline A. L.; Cerezo, Maria; Harris, Laura W.; Hayhurst, James; Malangone, Cinzia; McMahon, Aoife; Morales, Joannella; Mountjoy, Edward; Sollis, Elliot; Suveges, Daniel; Vrousgou, Olga; Whetzel, Patricia L.; Amode, Ridwan; Guillen, Jose A.; Riat, Harpreet S.; Trevanion, Stephen J.; Hall, Peggy; Junkins, Heather; Flicek, Paul; Burdett, Tony; Hindorff, Lucia A.; Cunningham, Fiona; Parkinson, Helen Share Save
Ensembl 2019 Cunningham, Fiona; Achuthan, Premanand; Akanni, Wasiu; Allen, James; Amode, M. Ridwan; Armean, Irina M.; Bennett, Ruth; Bhai, Jyothish; Billis, Konstantinos; Boddu, Sanjay; Cummins, Carla; Davidson, Claire; Dodiya, Kamalkumar Jayantilal; Gall, Astrid; Giron, Carlos Garcia; Gil, Laurent; Grego, Tiago; Haggerty, Leanne; Haskell, Erin; Hourlier, Thibaut; Izuogu, Osagie G.; Janacek, Sophie H.; Juettemann, Thomas; Kay, Mike; Laird, Matthew R.; Lavidas, Ilias; Liu, Zhicheng; Loveland, Jane E.; Marugan, Jose C.; Maurel, Thomas; McMahon, Aoife C.; Moore, Benjamin; Morales, Joannella; Mudge, Jonathan M.; Nuhn, Michael; Ogeh, Denye; Parker, Anne; Parton, Andrew; Patricio, Mateus; Salam, Ahamed Imran Abdul; Schmitt, Bianca M.; Schuilenburg, Helen; Sheppard, Dan; Sparrow, Helen; Stapleton, Eloise; Szuba, Marek; Taylor, Kieron; Threadgold, Glen; Thormann, Anja; Vullo, Alessandro; Walts, Brandon; Winterbottom, Andrea; Zadissa, Amonida; Chakiachvili, Marc; Frankish, Adam; Hunt, Sarah E.; Kostadima, Myrto; Langridge, Nick; Martin, Fergal J.; Muffato, Matthieu; Perry, Emily; Ruffier, Magali; Staines, Daniel M.; Trevanion, Stephen J.; Aken, Bronwen L.; Yates, Andrew D.; Zerbino, Daniel R.; Flicek, Paul Share Save
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A standardized framework for representation of ancestry data in genomics studies, with application to the NHGRI-EBI GWAS Catalog Morales, Joannella; Welter, Danielle; Bowler, Emily H.; Cerezo, Maria; Harris, Laura W.; McMahon, Aoife C.; Hall, Peggy; Junkins, Heather A.; Milano, Annalisa; Hastings, Emma; Malangone, Cinzia; Buniello, Annalisa; Burdett, Tony; Flicek, Paul; Parkinson, Helen; Cunningham, Fiona; Hindorff, Lucia A.; MacArthur, Jacqueline A. L. Share Save
The new NHGRI-EBI Catalog of published genome-wide association studies (GWAS Catalog) MacArthur, Jacqueline; Bowler, Emily; Cerezo, Maria; Gil, Laurent; Hall, Peggy; Hastings, Emma; Junkins, Heather; McMahon, Aoife; Milano, Annalisa; Morales, Joannella; Pendlington, Zoe May; Welter, Danielle; Burdett, Tony; Hindorff, Lucia; Flicek, Paul; Cunningham, Fiona; Parkinson, Helen Share Save
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SynGAP isoforms exert opposing effects on synaptic strength McMahon, A. C.; Barnett, M. W.; O'Leary, T. S.; Stoney, P. N.; Collins, M. O.; Papadia, S.; Choudhary, J. S.; Komiyama, N. H.; Grant, S. G. N.; Hardingham, G. E.; Wyllie, D. J. A.; Kind, P. C. Share Save
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