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Whiffin, Nicola; Karczewski, Konrad J.; Zhang, Xiaolei; Chothani, Sonia; Smith, Miriam J.; Evans, D. Gareth; Roberts, Angharad M.; Quaife, Nicholas M.; Schafer, Sebastian; Rackham, Owen; Alföldi, Jessica; O’Donnell-Luria, Anne H.; Francioli, Laurent C.; Armean, Irina M.; Banks, Eric; Bergelson, Louis; Cibulskis, Kristian; Collins, Ryan L.; Connolly, Kristen M.; Covarrubias, Miguel; Cummings, Beryl; Daly, Mark J.; Donnelly, Stacey; Farjoun, Yossi; [...]Characterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individualsView onlineSchließen
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Published in: Nature Communications
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Wang, Qingbo; Pierce-Hoffman, Emma; Cummings, Beryl B.; Alföldi, Jessica; Francioli, Laurent C.; Gauthier, Laura D.; Hill, Andrew J.; O’Donnell-Luria, Anne H.; Armean, Irina M.; Banks, Eric; Bergelson, Louis; Cibulskis, Kristian; Collins, Ryan L.; Connolly, Kristen M.; Covarrubias, Miguel; Daly, Mark J.; Donnelly, Stacey; Farjoun, Yossi; Ferriera, Steven; Gabriel, Stacey; Gentry, Jeff; Gupta, Namrata; Jeandet, Thibault; Kaplan, Diane; [...]Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomesView onlineSchließen
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Published in: Nature Communications
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Karczewski, Konrad J.; Francioli, Laurent C.; Tiao, Grace; Cummings, Beryl B.; Alföldi, Jessica; Wang, Qingbo; Collins, Ryan L.; Laricchia, Kristen M.; Ganna, Andrea; Birnbaum, Daniel P.; Gauthier, Laura D.; Brand, Harrison; Solomonson, Matthew; Watts, Nicholas A.; Rhodes, Daniel; Singer-Berk, Moriel; England, Eleina M.; Seaby, Eleanor G.; Kosmicki, Jack A.; Walters, Raymond K.; Tashman, Katherine; Farjoun, Yossi; Banks, Eric; Poterba, Timothy; [...]The mutational constraint spectrum quantified from variation in 141,456 humansView onlineSchließen
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Published in: Nature
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Cummings, Beryl B.; Karczewski, Konrad J.; Kosmicki, Jack A.; Seaby, Eleanor G.; Watts, Nicholas A.; Singer-Berk, Moriel; Mudge, Jonathan M.; Karjalainen, Juha; Satterstrom, F. Kyle; O’Donnell-Luria, Anne H.; Poterba, Timothy; Seed, Cotton; Solomonson, Matthew; Alföldi, Jessica; Alföldi, Jessica; Armean, Irina M.; Banks, Eric; Bergelson, Louis; Cibulskis, Kristian; Collins, Ryan L.; Connolly, Kristen M.; Covarrubias, Miguel; Cummings, Beryl B.; Daly, Mark J.; [...]Transcript expression-aware annotation improves rare variant interpretationView onlineSchließen
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Published in: Nature
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Chen, Siwei; Francioli, Laurent C.; Goodrich, Julia K.; Collins, Ryan L.; Kanai, Masahiro; Wang, Qingbo; Alföldi, Jessica; Watts, Nicholas A.; Vittal, Christopher; Gauthier, Laura D.; Poterba, Timothy; Wilson, Michael W.; Tarasova, Yekaterina; Phu, William; Grant, Riley; Yohannes, Mary T.; Koenig, Zan; Farjoun, Yossi; Banks, Eric; Donnelly, Stacey; Gabriel, Stacey; Gupta, Namrata; Ferriera, Steven; Tolonen, Charlotte; [...]Author Correction: A genomic mutational constraint map using variation in 76,156 human genomesView onlineSchließen
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Published in: Nature
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Chen, Siwei; Francioli, Laurent C.; Goodrich, Julia K.; Collins, Ryan L.; Kanai, Masahiro; Wang, Qingbo; Alföldi, Jessica; Watts, Nicholas A.; Vittal, Christopher; Gauthier, Laura D.; Poterba, Timothy; Wilson, Michael W.; Tarasova, Yekaterina; Phu, William; Grant, Riley; Yohannes, Mary T.; Koenig, Zan; Farjoun, Yossi; Banks, Eric; Donnelly, Stacey; Gabriel, Stacey; Gupta, Namrata; Ferriera, Steven; Tolonen, Charlotte; [...]A genomic mutational constraint map using variation in 76,156 human genomesView onlineSchließen
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Published in: Nature
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Guo, Michael H.; Francioli, Laurent C.; Stenton, Sarah L.; Goodrich, Julia K.; Watts, Nicholas A.; Singer-Berk, Moriel; Groopman, Emily; Darnowsky, Philip W.; Solomonson, Matthew; Baxter, Samantha; Abreu, Maria; Salinas, Carlos A. Aguilar; Ahmad, Tariq; Albert, Christine M.; Alföldi, Jessica; Ardissino, Diego; Armean, Irina M.; Atzmon, Gil; Banks, Eric; Barnard, John; Baxter, Samantha M.; Beaugerie, Laurent; Benjamin, Emelia J.; Benjamin, David; [...]Inferring compound heterozygosity from large-scale exome sequencing dataView onlineSchließen
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Published in: Nature Genetics
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Collins, Ryan L.; Brand, Harrison; Karczewski, Konrad J.; Zhao, Xuefang; Alföldi, Jessica; Francioli, Laurent C.; Khera, Amit V.; Lowther, Chelsea; Gauthier, Laura D.; Wang, Harold; Watts, Nicholas A.; Solomonson, Matthew; O’Donnell-Luria, Anne; Baumann, Alexander; Munshi, Ruchi; Walker, Mark; Whelan, Christopher W.; Huang, Yongqing; Brookings, Ted; Sharpe, Ted; Stone, Matthew R.; Valkanas, Elise; Fu, Jack; Tiao, Grace; [...]A structural variation reference for medical and population geneticsView onlineSchließen
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Published in: Nature
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Whiffin, Nicola; Armean, Irina M.; Kleinman, Aaron; Marshall, Jamie L.; Minikel, Eric V.; Goodrich, Julia K.; Quaife, Nicholas M.; Cole, Joanne B.; Wang, Qingbo; Karczewski, Konrad J.; Cummings, Beryl B.; Francioli, Laurent; Laricchia, Kristen; Guan, Anna; Alipanahi, Babak; Morrison, Peter; Baptista, Marco A. S.; Merchant, Kalpana M.; Armean, Irina M.; Banks, Eric; Bergelson, Louis; Cibulskis, Kristian; Collins, Ryan L.; Connolly, Kristen M.; [...]The effect of LRRK2 loss-of-function variants in humansView onlineSchließen
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Published in: Nature Medicine
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Ahogni, Didier; Ahounou, Aristide; Boukari, K. Alassan; Gbehade, Oswald; Hessou, Thierry K.; Nindopa, Sinama; Nontonwanou, M. J. Bienvenue; Guessou, Nafissatou Orou; Sambo, Arouna; Tchati, Sorekou Victoire; Tchogo, Affisatou; Tobome, Semevo Romaric; Yanto, Parfait; Gandaho, Isidore; Hadonou, Armel; Hinvo, Simplice; Hodonou, Montcho Adrien; Tamou, Sambo Bio; Lawani, Souliath; Kandokponou, Covalic Melic Bokossa; Dossou, Francis Moise; Gaou, Antoine; Goudou, Roland; Kouroumta, Marie-Claire; [...]Strategies to minimise and monitor biases and imbalances by arm in surgical cluster randomised trials: evidence from ChEETAh, a trial in seven low- and middle-income countriesView onlineSchließen
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Published in: Trials
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Ziyatdinov, Andrey; Torres, Jason; Alegre-Díaz, Jesús; Backman, Joshua; Mbatchou, Joelle; Turner, Michael; Gaynor, Sheila M.; Joseph, Tyler; Zou, Yuxin; Liu, Daren; Wade, Rachel; Staples, Jeffrey; Panea, Razvan; Popov, Alex; Bai, Xiaodong; Balasubramanian, Suganthi; Habegger, Lukas; Lanche, Rouel; Lopez, Alex; Maxwell, Evan; Jones, Marcus; García-Ortiz, Humberto; Ramirez-Reyes, Raul; Santacruz-Benítez, Rogelio; [...]Author Correction: Genotyping, sequencing and analysis of 140,000 adults from Mexico CityView onlineSchließen
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Published in: Nature
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Ziyatdinov, Andrey; Torres, Jason; Alegre-Díaz, Jesús; Backman, Joshua; Mbatchou, Joelle; Turner, Michael; Gaynor, Sheila M.; Joseph, Tyler; Zou, Yuxin; Liu, Daren; Wade, Rachel; Staples, Jeffrey; Panea, Razvan; Popov, Alex; Bai, Xiaodong; Balasubramanian, Suganthi; Habegger, Lukas; Lanche, Rouel; Lopez, Alex; Maxwell, Evan; Jones, Marcus; García-Ortiz, Humberto; Ramirez-Reyes, Raul; Santacruz-Benítez, Rogelio; [...]Genotyping, sequencing and analysis of 140,000 adults from Mexico CityView onlineSchließen
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Published in: Nature
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Zhou, Zien; Jardine, Meg J.; Li, Qiang; Neuen, Brendon L.; Cannon, Christopher P.; de Zeeuw, Dick; Edwards, Robert; Levin, Adeera; Mahaffey, Kenneth W.; Perkovic, Vlado; Neal, Bruce; Lindley, Richard I.; Ahuad Guerrero, Rodolfo Andres; Aizenberg, Diego; Albisu, Juan Pablo; Alvarisqueta, Andres; Bartolacci, Ines; Berli, Mario Alberto; Bordonava, Anselmo; Calella, Pedro; Cantero, Maria Cecilia; Cartasegna, Luis Rodolfo; Cercos, Esteban; Coloma, Gabriela Cecilia; [...]Effect of SGLT2 Inhibitors on Stroke and Atrial Fibrillation in Diabetic Kidney Disease : Results From the CREDENCE Trial and Meta-Analysis : Results From the CREDENCE Trial and Meta-AnalysisView onlineSchließen
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Published in: Stroke
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Kachapila, Mwayi; Oppong, Raymond; Ademuyiwa, Adesoji O.; Bhangu, Aneel; Dauda, Risikat; Ghosh, Dhruva N.; Kamarajah, Sivesh K; Lawani, Ismail; Medina, Antonio Ramos-De la; Monahan, Mark; Morton, Dion G.; Omar, Omar; Picciochi, Maria; Tabiri, Stephen; Roberts, Tracy E.; Brocklehurst, Peter; Chakrabortee, Sohini; Glasbey, James; Hardy, Pollyanna; Harrison, Ewen; Lillywhite, Rachel; Magill, Laura; Nepogodiev, Dmitri; Simoes, Joana; [...]Routine sterile glove and instrument change at the time of abdominal wound closure to prevent surgical site infection (ChEETAh): a model-based cost-effectiveness analysis of a pragmatic, cluster-randomised trial in seven low-income and middle-income countriesView onlineSchließen
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Published in: The Lancet Global Health
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Fabian, Ido Didi; Abdallah, Elhassan; Abdullahi, Shehu U; Abdulqader, Rula A; Abdulrahaman, Aminatu A; Abouelnaga, Sherif; Ademola-Popoola, Dupe S; Adio, Adedayo; Afifi, Mahmoud A; Afshar, Armin R; Aggarwal, Priyanka; Aghaji, Ada E; Ahmad, Alia; Akib, Marliyanti NR; Akinsete, Adeseye; Al Harby, Lamis; Al Mesfer, Saleh; Al Ani, Mouroge H; Alarcón Portabella, Silvia; Al-Badri, Safaa AF; Alcasabas, Ana Patricia A; Al-Dahmash, Saad A; Alejos, Amanda; Alemany-Rubio, Ernesto; [...]The Global Retinoblastoma Outcome Study: a prospective, cluster-based analysis of 4064 patients from 149 countriesView onlineSchließen
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Published in: The Lancet Global Health
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Cho, Sung-Min; Premraj, Lavienraj; Battaglini, Denise; Fanning, Jonathon Paul; Suen, Jacky; Bassi, Gianluigi Li; Fraser, John; Robba, Chiara; Griffee, Matthew; Solomon, Tom; Semple, Malcolm G; Baillie, Kenneth; Sigfrid, Louise; Scott, Janet T; Citarella, Barbara Wanjiru; Merson, Laura; Arora, Rakesh C; Whitman, Glenn; Thomson, David; White, Nicole; Abel, Laurent; Abrous, Amal; Jabal, Kamal Abu; Zayyad, Hiba Abu; [...]Sex differences in post-acute neurological sequelae of SARS-CoV-2 and symptom resolution in adults after coronavirus disease 2019 hospitalization: an international multi-centre prospective observational studyView onlineSchließen
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Published in: Brain Communications
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Abdukahil, Sheryl Ann; Abe, Ryuzo; Abel, Laurent; Absil, Lara; Acker, Andrew; Adachi, Shingo; Adam, Elisabeth; Adrião, Diana; Ainscough, Kate; Hssain, Ali Ait; Tamlihat, Younes Ait; Akimoto, Takako; Al-Dabbous, Tala; Al-Fares, Abdulrahman; Al Qasim, Eman; Alalqam, Razi; Alex, Beatrice; Alexandre, Kévin; Alfoudri, Huda; Alidjnou, Kazali Enagnon; Aliudin, Jeffrey; Allavena, Clotilde; Allou, Nathalie; Alves, João; [...]COVID-19 symptoms at hospital admission vary with age and sex: results from the ISARIC prospective multinational observational studyView onlineSchließen
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Published in: Infection
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Rick, Anne-Marie; Laurens, Matthew B.; Huang, Ying; Yu, Chenchen; Martin, Thomas C.S.; Rodriguez, Carina A.; Rostad, Christina A.; Maboa, Rebone M.; Baden, Lindsey R.; El Sahly, Hana M.; Grinsztejn, Beatriz; Gray, Glenda E.; Gay, Cynthia L.; Gilbert, Peter B.; Janes, Holly E.; Kublin, James G.; Huang, Yunda; Leav, Brett; Hirsch, Ian; Struyf, Frank; Dunkle, Lisa M.; Neuzil, Kathleen M.; Corey, Lawrence; Goepfert, Paul A.; [...]Risk of COVID-19 after natural infection or vaccinationView onlineSchließen
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Published in: eBioMedicine
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Theodore, Deborah A.; Branche, Angela R.; Zhang, Lily; Graciaa, Daniel S.; Choudhary, Madhu; Hatlen, Timothy J.; Osman, Raadhiya; Babu, Tara M.; Robinson, Samuel T.; Gilbert, Peter B.; Follmann, Dean; Janes, Holly; Kublin, James G.; Baden, Lindsey R.; Goepfert, Paul; Gray, Glenda E.; Grinsztejn, Beatriz; Kotloff, Karen L.; Gay, Cynthia L.; Leav, Brett; Miller, Jacqueline; Hirsch, Ian; Sadoff, Jerald; Dunkle, Lisa M.; [...]Clinical and Demographic Factors Associated With COVID-19, Severe COVID-19, and SARS-CoV-2 Infection in Adults : A Secondary Cross-Protocol Analysis of 4 Randomized Clinical Trials : A Secondary Cross-Protocol Analysis of 4 Randomized Clinical TrialsView onlineSchließen
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Published in: JAMA Network Open
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Klionsky, Daniel J; Abdelmohsen, Kotb; Abe, Akihisa; Abedin, Md Joynal; Abeliovich, Hagai; Acevedo Arozena, Abraham; Adachi, Hiroaki; Adams, Christopher M; Adams, Peter D; Adeli, Khosrow; Adhihetty, Peter J; Adler, Sharon G; Agam, Galila; Agarwal, Rajesh; Aghi, Manish K; Agnello, Maria; Agostinis, Patrizia; Aguilar, Patricia V; Aguirre-Ghiso, Julio; Airoldi, Edoardo M; Ait-Si-Ali, Slimane; Akematsu, Takahiko; Akporiaye, Emmanuel T; Al-Rubeai, Mohamed; [...]Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition)View onlineSchließen
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Published in: Autophagy