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Popejoy, Alice B.; Ritter, Deborah I.; Azzariti, Danielle; Berg, Jonathan S.; Bulkley, Joanna E.; Cho, Mildred; Gonzaga-Jauregui, Claudia; Klein, Teri E.; Martschenko, Daphne O.; Oni-Orisan, Akinyemi; Ramos, Erin M.; Rehm, Heidi L.; Riggs, Erin R.; Wright, Matthew W.; Yudell, Michael; Plon, Sharon E.; Morales, Joannella .png)
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SaveThe NHGRI-EBI GWAS Catalog: standards for reusability, sustainability and diversityCerezo, 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 Share Save Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanismsWright, Caroline F.; Quaife, Nicholas M.; Ramos-Hernandez, Laura; Danecek, Petr; Ferla, Matteo P.; Samocha, Kaitlin E.; Kaplanis, Joanna; Gardner, Eugene J.; Eberhardt, Ruth Y.; Chao, Katherine R.; Karczewski, Konrad J.; Morales, Joannella; Gallone, Giuseppe; Balasubramanian, Meena; Banka, Siddharth; Gompertz, Lianne; Kerr, Bronwyn; Kirby, Amelia; Lynch, Sally A.; Morton, Jenny E., V; Pinz, Hailey; Sansbury, Francis H.; Stewart, Helen; Zuccarelli, Britton D.; Cook, Stuart A.; Taylor, Jenny C.; Juusola, Jane; Retterer, Kyle; Firth, Helen, V; Hurles, Matthew E.; Lara-Pezzi, Enrique; Barton, Paul J. R.; Whiffin, Nicola Share Save Ensembl 2020Yates, 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 Curated disease-causing genes for bleeding, thrombotic, and platelet disorders: Communication from the SSC of the ISTHMegy, Karyn; Downes, Kate; Simeoni, Ilenia; Bury, Loredana; Morales, Joannella; Mapeta, Rutendo; Bellissimo, Daniel B.; Bray, Paul F.; Goodeve, Anne C.; Gresele, Paolo; Lambert, Michele; Reitsma, Pieter; Ouwehand, Willem H.; Freson, Kathleen 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 patientsMignot, 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 2019Buniello, 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 2019Cunningham, 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 A standardized framework for representation of ancestry data in genomics studies, with application to the NHGRI-EBI GWAS CatalogMorales, 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 The NHGRI GWAS Catalog, a curated resource of SNP-trait associationsWelter, Danielle; MacArthur, Jacqueline; Morales, Joannella; Burdett, Tony; Hall, Peggy; Junkins, Heather; Klemm, Alan; Flicek, Paul; Manolio, Teri; Hindorff, Lucia; Parkinson, Helen Share Save Locus Reference Genomic: reference sequences for the reporting of clinically relevant sequence variantsMacArthur, Jacqueline A. L.; Morales, Joannella; Tully, Ray E.; Astashyn, Alex; Gil, Laurent; Bruford, Elspeth A.; Larsson, Pontus; Flicek, Paul; Dalgleish, Raymond; Maglott, Donna R.; Cunningham, Fiona Share Save Drosophila fragile X protein, DFXR, regulates neuronal morphology and function in the brainMorales, J; Hiesinger, PR; Schroeder, AJ; Kume, K; Verstreken, P; Jackson, FR; Nelson, DL; Hassan, BA Share Save 
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