未登录HERC1 deficiency causes osteopenia through transcriptional program dysregulation during bone remodeling
Pedrazza, Leonardo; Martinez-Martinez, Arturo; Sanchez-de-Diego, Cristina; Valer, Jose Antonio; Pimenta-Lopes, Carolina; Sala-Gaston, Joan; Szpak, Michal; Tyler-Smith, Chris; Ventura, Francesc; Rosa, Jose Luis .png)
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收藏Ensembl 2023Martin, Fergal J.; Amode, M. Ridwan; Aneja, Alisha; Austine-Orimoloye, Olanrewaju; Azov, Andrey G.; Barnes, If; Becker, Arne; Bennett, Ruth; Berry, Andrew; Bhai, Jyothish; Bhurji, Simarpreet Kaur; Bignell, Alexandra; Boddu, Sanjay; Lins, Paulo R. Branco; Brooks, Lucy; Ramaraju, Shashank Budhanuru; Charkhchi, Mehrnaz; Cockburn, Alexander; Fiorretto, Luca Da Rin; Davidson, Claire; Dodiya, Kamalkumar; Donaldson, Sarah; El Houdaigui, Bilal; El Naboulsi, Tamara; Fatima, Reham; Giron, Carlos Garcia; Genez, Thiago; Ghattaoraya, Gurpreet S.; Martinez, Jose Gonzalez; Guijarro, Cristi; Hardy, Matthew; Hollis, Zoe; Hourlier, Thibaut; Hunt, Toby; Kay, Mike; Kaykala, Vinay; Le, Tuan; Lemos, Diana; Marques-Coelho, Diego; Marugan, Jose Carlos; Merino, Gabriela Alejandra; Mirabueno, Louisse Paola; Mushtaq, Aleena; Hossain, Syed Nakib; Ogeh, Denye N.; Sakthivel, Manoj Pandian; Parker, Anne; Perry, Malcolm; Pilizota, Ivana; Prosovetskaia, Irina; Perez-Silva, Jose G.; Salam, Ahamed Imran Abdul; Saraiva-Agostinho, Nuno; Schuilenburg, Helen; Sheppard, Dan; Sinha, Swati; Sipos, Botond; Stark, William; Steed, Emily; Sukumaran, Ranjit; Sumathipala, Dulika; Suner, Marie-Marthe; Surapaneni, Likhitha; Sutinen, Kyosti; Szpak, Michal; Tricomi, Francesca Floriana; Urbina-Gomez, David; Veidenberg, Andres; Walsh, Thomas A.; Walts, Brandon; Wass, Elizabeth; Willhoft, Natalie; Allen, Jamie; Alvarez-Jarreta, Jorge; Chakiachvili, Marc; Flint, Bethany; Giorgetti, Stefano; Haggerty, Leanne; Ilsley, Garth R.; Loveland, Jane E.; Moore, Benjamin; Mudge, Jonathan M.; Tate, John; Thybert, David; Trevanion, Stephen J.; Winterbottom, Andrea; Frankish, Adam; Hunt, Sarah E.; Ruffier, Magali; Cunningham, Fiona; Dyer, Sarah; Finn, Robert D.; Howe, Kevin L.; Harrison, Peter W.; Yates, Andrew D.; Flicek, Paul 分享 收藏 Annotating and prioritizing genomic variants using the Ensembl Variant Effect Predictor-A tutorial使用Ensembl变异效应预测器对基因组变异进行注释和优先排序-教程Hunt, Sarah E.; Moore, Benjamin; Amode, Ridwan M.; Armean, Irina M.; Lemos, Diana; Mushtaq, Aleena; Parton, Andrew; Schuilenburg, Helen; Szpak, Michal; Thormann, Anja; Perry, Emily; Trevanion, Stephen J.; Flicek, Paul; Yates, Andrew D.; Cunningham, Fiona 分享 收藏 Ensembl 2022Cunningham, Fiona; Allen, James E.; Allen, Jamie; Alvarez-Jarreta, Jorge; Amode, M. Ridwan; Armean, Irina M.; Austine-Orimoloye, Olanrewaju; Azov, Andrey G.; Barnes, If; Bennett, Ruth; Berry, Andrew; Bhai, Jyothish; Bignell, Alexandra; Billis, Konstantinos; Boddu, Sanjay; Brooks, Lucy; Charkhchi, Mehrnaz; Cummins, Carla; Fioretto, Luca Da Rin; Davidson, Claire; Dodiya, Kamalkumar; Donaldson, Sarah; El Houdaigui, Bilal; El Naboulsi, Tamara; Fatima, Reham; Giron, Carlos Garcia; Genez, Thiago; Martinez, Jose Gonzalez; Guijarro-Clarke, Cristina; Gymer, Arthur; Hardy, Matthew; Hollis, Zoe; Hourlier, Thibaut; Hunt, Toby; Juettemann, Thomas; Kaikala, Vinay; Kay, Mike; Lavidas, Ilias; Le, Tuan; Lemos, Diana; Marugan, Jose Carlos; Mohanan, Shamika; Mushtaq, Aleena; Naven, Marc; Ogeh, Denye N.; Parker, Anne; Parton, Andrew; Perry, Malcolm; Pilizota, Ivana; Prosovetskaia, Irina; Sakthivel, Manoj Pandian; Salam, Ahamed Imran Abdul; Schmitt, Bianca M.; Schuilenburg, Helen; Sheppard, Dan; Perez-Silva, Jose G.; Stark, William; Steed, Emily; Sutinen, Kyosti; Sukumaran, Ranjit; Sumathipala, Dulika; Suner, Marie-Marthe; Szpak, Michal; Thormann, Anja; Tricomi, Francesca Floriana; Urbina-Gomez, David; Veidenberg, Andres; Walsh, Thomas A.; Walts, Brandon; Willhoft, Natalie; Winterbottom, Andrea; Wass, Elizabeth; Chakiachvili, Marc; Flint, Bethany; Frankish, Adam; Giorgetti, Stefano; Haggerty, Leanne; Hunt, Sarah E.; IIsley, Garth R.; Loveland, Jane E.; Martin, Fergal J.; Moore, Benjamin; Mudge, Jonathan M.; Muffato, Matthieu; Perry, Emily; Ruffier, Magali; Tate, John; Thybert, David; Trevanion, Stephen J.; Dyer, Sarah; Harrison, Peter W.; Howe, Kevin L.; Yates, Andrew D.; Zerbino, Daniel R.; Flicek, Paul 分享 收藏 Ensembl Genomes 2022: an expanding genome resource for non-vertebratesEnsembl基因组2022: 非脊椎动物的扩展基因组资源Yates, Andrew D.; Allen, James; Amode, Ridwan M.; Azov, Andrey G.; Barba, Matthieu; Becerra, Andres; Bhai, Jyothish; Campbell, Lahcen, I; Martinez, Manuel Carbajo; Chakiachvili, Marc; Chougule, Kapeel; Christensen, Mikkel; Contreras-Moreira, Bruno; Cuzick, Alayne; Fioretto, Luca Da Rin; Davis, Paul; De Silva, Nishadi H.; Diamantakis, Stavros; Dyer, Sarah; Elser, Justin; Filippi, Carla, V; Gall, Astrid; Grigoriadis, Dionysios; Guijarro-Clarke, Cristina; Gupta, Parul; Hammond-Kosack, Kim E.; Howe, Kevin L.; Jaiswal, Pankaj; Kaikala, Vinay; Kumar, Vivek; Kumari, Sunita; Langridge, Nick; Le, Tuan; Luypaert, Manuel; Maslen, Gareth L.; Maurel, Thomas; Moore, Benjamin; Muffato, Matthieu; Mushtaq, Aleena; Naamati, Guy; Naithani, Sushma; Olson, Andrew; Parker, Anne; Paulini, Michael; Pedro, Helder; Perry, Emily; Preece, Justin; Quinton-Tulloch, Mark; Rodgers, Faye; Rosello, Marc; Ruffier, Magali; Seager, James; Sitnik, Vasily; Szpak, Michal; Tate, John; Tello-Ruiz, Marcela K.; Trevanion, Stephen J.; Urban, Martin; Ware, Doreen; Wei, Sharon; Williams, Gary; Winterbottom, Andrea; Zarowiecki, Magdalena; Finn, Robert D.; Flicek, Paul 分享 收藏 A Positively Selected MAGEE2 LoF Allele Is Associated with Sexual Dimorphism in Human Brain Size and Shows Similar Phenotypes in Magee2 Null MiceSzpak, Michal; Collins, Stephan C.; Li, Yan; Liu, Xiao; Ayub, Qasim; Fischer, Marie-Christine; Vancollie, Valerie E.; Lelliott, Christopher J.; Xue, Yali; Yalcin, Binnaz; Yang, Huanming; Tyler-Smith, Chris 分享 收藏 Ensembl 2021Howe, 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 分享 收藏 分享 收藏 Bible Says Israelites Didn't Exterminate Sidonians ResponseHaber, Marc; Doumet-Serhal, Claude; Scheib, Christiana; Xue, Yali; Danecek, Petr; Mezzavilla, Massimo; Youhanna, Sonia; Martiniano, Rui; Prado-Martinez, Javier; Szpak, Michal; Matisoo-Smith, Elizabeth; Schutkowski, Holger; Mikulski, Richard; Zalloua, Pierre; Kivisild, Toomas; Tyler-Smith, Chris 分享 收藏 分享 收藏 Continuity and Admixture in the Last Five Millennia of Levantine History from Ancient Canaanite and Present-Day Lebanese Genome Sequences古代迦南人和当今黎巴嫩基因组序列在黎凡特历史的最后五千年中的连续性和混合性Haber, Marc; Doumet-Serhal, Claude; Scheib, Christiana; Xue, Yali; Danecek, Petr; Mezzavilla, Massimo; Youhanna, Sonia; Martiniano, Rui; Prado-Martinez, Javier; Szpak, Michal; Matisoo-Smith, Elizabeth; Schutkowski, Holger; Mikulski, Richard; Zalloua, Pierre; Kivisild, Toomas; Tyler-Smith, Chris 分享 收藏 Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits全基因组测序与插补相结合，发现了人体测量性状的遗传信号Tachmazidou, Ioanna; Suveges, Daniel; Min, Josine L.; Ritchie, Graham R. S.; Steinberg, Julia; Walter, Klaudia; Iotchkova, Valentina; Schwartzentruber, Jeremy; Huang, Jie; Memari, Yasin; McCarthy, Shane; Crawford, Andrew A.; Bombieri, Cristina; Cocca, Massimiliano; Farmaki, Aliki-Eleni; Gaunt, Tom R.; Jousilahti, Pekka; Kooijman, Marjolein N.; Lehne, Benjamin; Malerba, Giovanni; Mannisto, Satu; Matchan, Angela; Medina-Gomez, Carolina; Metrustry, Sarah J.; Nag, Abhishek; Ntalla, Ioanna; Paternoster, Lavinia; Rayner, Nigel W.; Sala, Cinzia; Scott, William R.; Shihab, Hashem A.; Southam, Lorraine; St Pourcain, Beate; Traglia, Michela; Trajanoska, Katerina; Zaza, Gialuigi; Zhang, Weihua; Artigas, Maria S.; Bansal, Narinder; Benn, Marianne; Chen, Zhongsheng; Danecek, Petr; Lin, Wei-Yu; Locke, Adam; Luan, Jian'an; Manning, Alisa K.; Mulas, Antonella; Sidore, Carlo; Tybjaerg-Hansen, Anne; Varbo, Anette; Zoledziewska, Magdalena; Finan, Chris; Hatzikotoulas, Konstantinos; Hendricks, Audrey E.; Kemp, John P.; Moayyeri, Alireza; Panoutsopoulou, Kalliope; Szpak, Michal; Wilson, Scott G.; Boehnke, Michael; Cucca, Francesco; Di Angelantonio, Emanuele; Langenberg, Claudia; Lindgren, Cecilia; McCarthy, Mark I.; Morris, Andrew P.; Nordestgaard, Borge G.; Scott, Robert A.; Tobin, Martin D.; Wareham, Nicholas J.; Burton, Paul; Chambers, John C.; Smith, George Davey; Dedoussis, George; Felix, Janine F.; Franco, Oscar H.; Gambaro, Giovanni; Gasparini, Paolo; Hammond, Christopher J.; Hofman, Albert; Jaddoe, Vincent W. V.; Kleber, Marcus; Kooner, Jaspal S.; Perola, Markus; Relton, Caroline; Ring, Susan M.; Rivadeneira, Fernando; Salomaa, Veikko; Spector, Timothy D.; Stegle, Oliver; Toniolo, Daniela; Uitterlinden, Andre G.; Barroso, Ines; Greenwood, Celia M. T.; Perry, John R. B.; Walker, Brian R.; Butterworth, Adam S.; Xue, Yali; Durbin, Richard; Small, Kerrin S.; Soranzo, Nicole; Timpson, Nicholas J.; Zeggini, Eleftheria 分享 收藏 Fine mapping of type 1 diabetes susceptibility loci and evidence for colocalization of causal variants with lymphoid gene enhancers1型糖尿病易感基因座的精细定位以及致病变异与淋巴样基因增强子共定位的证据Onengut-Gumuscu, Suna; Chen, Wei-Min; Burren, Oliver; Cooper, Nick J.; Quinlan, Aaron R.; Mychaleckyj, Josyf C.; Farber, Emily; Bonnie, Jessica K.; Szpak, Michal; Schofield, Ellen; Achuthan, Premanand; Guo, Hui; Fortune, Mary D.; Stevens, Helen; Walker, Neil M.; Ward, Lucas D.; Kundaje, Anshul; Kellis, Manolis; Daly, Mark J.; Barrett, Jeffrey C.; Cooper, Jason D.; Deloukas, Panos; Todd, John A.; Wallace, Chris; Concannon, Patrick; Rich, Stephen S. 分享 收藏 A Selective Sweep on a Deleterious Mutation in CPT1A in Arctic Populations对北极人群中CPT1A有害突变的选择性扫描Clemente, Florian J.; Cardona, Alexia; Inchley, Charlotte E.; Peter, Benjamin M.; Jacobs, Guy; Pagani, Luca; Lawson, Daniel J.; Antao, Tiago; Vicente, Mario; Mitt, Mario; DeGiorgio, Michael; Faltyskova, Zuzana; Xue, Yali; Ayub, Qasim; Szpak, Michal; Maegi, Reedik; Eriksson, Anders; Manica, Andrea; Raghavan, Maanasa; Rasmussen, Morten; Rasmussen, Simon; Willerslev, Eske; Vidal-Puig, Antonio; Tyler-Smith, Chris; Villems, Richard; Nielsen, Rasmus; Metspalu, Mait; Malyarchuk, Boris; Derenko, Miroslava; Kivisild, Toomas 分享 收藏 
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