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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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Minikel, Eric Vallabh; Karczewski, Konrad J.; Martin, Hilary C.; Cummings, Beryl B.; Whiffin, Nicola; Rhodes, Daniel; Alföldi, Jessica; Trembath, Richard C.; van Heel, David A.; Daly, Mark J.; 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.; Donnelly, Stacey; Farjoun, Yossi; Ferriera, Steven; Francioli, Laurent; [...]Evaluating drug targets through human loss-of-function genetic variationView onlineSchließen
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Published in: Nature
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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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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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Baker, Anna M.; Holbrook, Janet T.; Yohannes, Abebaw M.; Eakin, Michelle N.; Sugar, Elizabeth A.; Henderson, Robert J.; Casper, Anne S.; Kaminsky, David A.; Rea, Alexis L.; Mathews, Anne M.; Que, Loretta G.; Ramsdell, Joe W.; Gerald, Lynn B.; Wise, Robert A.; Hanania, Nicola A.; Hanania, Nicola; Sockrider, Marianna; Bertrand, Laura; Atik, Mustafa; Lopez, Blanca A.; Reibman, Joan; DiMango, Emily; Rogers, Linda; Carapetyan, Karen; [...]Test Performance Characteristics of the AIR, GAD-7, and HADS-Anxiety Screening Questionnaires for Anxiety in Chronic Obstructive Pulmonary DiseaseView onlineSchließen
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Published in: Annals of the American Thoracic Society
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Lee, S Hong; Byrne, Enda M; Hultman, Christina M; Kähler, Anna; Vinkhuyzen, Anna AE; Ripke, Stephan; Andreassen, Ole A; Frisell, Thomas; Gusev, Alexander; Hu, Xinli; Karlsson, Robert; Mantzioris, Vasilis X; McGrath, John J; Mehta, Divya; Stahl, Eli A; Zhao, Qiongyi; Kendler, Kenneth S; Sullivan, Patrick F; Price, Alkes L; O’Donovan, Michael; Okada, Yukinori; Mowry, Bryan J; Raychaudhuri, Soumya; Wray, Naomi R; [...]New data and an old puzzle: the negative association between schizophrenia and rheumatoid arthritisView onlineSchließen
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Published in: International Journal of Epidemiology
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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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Rivas, Manuel A.; Pirinen, Matti; Conrad, Donald F.; Lek, Monkol; Tsang, Emily K.; Karczewski, Konrad J.; Maller, Julian B.; Kukurba, Kimberly R.; DeLuca, David S.; Fromer, Menachem; Ferreira, Pedro G.; Smith, Kevin S.; Zhang, Rui; Zhao, Fengmei; Banks, Eric; Poplin, Ryan; Ruderfer, Douglas M.; Purcell, Shaun M.; Tukiainen, Taru; Minikel, Eric V.; Stenson, Peter D.; Cooper, David N.; Huang, Katharine H.; Sullivan, Timothy J.; [...]Effect of predicted protein-truncating genetic variants on the human transcriptomeView onlineSchließen
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Published in: Science
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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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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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Fan, Xue-Ru; Wang, Yin-Shan; Chang, Da; Yang, Ning; Rong, Meng-Jie; Zhang, Zhe; He, Ye; Hou, Xiaohui; Zhou, Quan; Gong, Zhu-Qing; Cao, Li-Zhi; Dong, Hao-Ming; Nie, Jing-Jing; Chen, Li-Zhen; Zhang, Qing; Zhang, Jia-Xin; Zhang, Lei; Li, Hui-Jie; Bao, Min; Chen, Antao; Chen, Jing; Chen, Xu; Ding, Jinfeng; Dong, Xue; [...]A longitudinal resource for population neuroscience of school-age children and adolescents in ChinaView onlineSchließen
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Published in: Scientific Data
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Serra, Eva Gonçalves; Schwerd, Tobias; Moutsianas, Loukas; Cavounidis, Athena; Fachal, Laura; Pandey, Sumeet; Kammermeier, Jochen; Croft, Nicholas M.; Posovszky, Carsten; Rodrigues, Astor; Russell, Richard K.; Barakat, Farah; Auth, Marcus K. H.; Heuschkel, Robert; Zilbauer, Matthias; Fyderek, Krzysztof; Braegger, Christian; Travis, Simon P.; Satsangi, Jack; Parkes, Miles; Thapar, Nikhil; Ferry, Helen; Matte, Julie C.; Gilmour, Kimberly C.; [...]Author Correction: Somatic mosaicism and common genetic variation contribute to the risk of very-early-onset inflammatory bowel diseaseView onlineSchließen
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Published in: Nature Communications
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Serra, Eva Gonçalves; Schwerd, Tobias; Moutsianas, Loukas; Cavounidis, Athena; Fachal, Laura; Pandey, Sumeet; Kammermeier, Jochen; Croft, Nicholas M.; Posovszky, Carsten; Rodrigues, Astor; Russell, Richard K.; Barakat, Farah; Auth, Marcus K. H.; Heuschkel, Robert; Zilbauer, Matthias; Fyderek, Krzysztof; Braegger, Christian; Travis, Simon P.; Satsangi, Jack; Parkes, Miles; Thapar, Nikhil; Ferry, Helen; Matte, Julie C.; Gilmour, Kimberly C.; [...]Somatic mosaicism and common genetic variation contribute to the risk of very-early-onset inflammatory bowel diseaseView onlineSchließen
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Published in: Nature Communications
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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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Muus, Christoph; Luecken, Malte D.; Eraslan, Gökcen; Sikkema, Lisa; Waghray, Avinash; Heimberg, Graham; Kobayashi, Yoshihiko; Vaishnav, Eeshit Dhaval; Subramanian, Ayshwarya; Smillie, Christopher; Jagadeesh, Karthik A.; Duong, Elizabeth Thu; Fiskin, Evgenij; Torlai Triglia, Elena; Ansari, Meshal; Cai, Peiwen; Lin, Brian; Buchanan, Justin; Chen, Sijia; Shu, Jian; Haber, Adam L.; Chung, Hattie; Montoro, Daniel T.; Adams, Taylor; [...]Single-cell meta-analysis of SARS-CoV-2 entry genes across tissues and demographicsView onlineSchließen
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Published in: Nature Medicine
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Giovannoni, Gavin; Cohen, Jeffrey A.; Coles, Alasdair J.; Hartung, Hans-Peter; Havrdova, Eva; Selmaj, Krzysztof W.; Margolin, David H.; Lake, Stephen L.; Kaup, Susan M.; Panzara, Michael A.; Compston, D. Alastair S.; Arnold, Doug; Cohen, Jeffrey A.; Coles, Alasdair; Compston, Alastair; Confavreux, Christian; Fox, Edward; Hartung, Hans-Peter; Havrdova, Eva; Selmaj, Krzysztof; Weiner, Howard; Panitch, Hillel; Clifford, David; Antel, Jack; [...]Alemtuzumab improves preexisting disability in active relapsing-remitting MS patientsView onlineSchließen
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Published in: Neurology
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Bass, Gary Alan; Mohseni, Shahin; Ryan, Éanna J.; Forssten, Maximilian Peter; Tolonen, Matti; Cao, Yang; Kaplan, Lewis J.; Ahl Hulme, Rebecka; Biloslavo, Alan; Kurihara, Hayato; Martinez-Casas, Isidro; Pereira, Jorge; Pourlotfi, Arvid; Louri, Nayef; Cao, Yang; Nedham, Fatema; Walsh, Thomas Noel; Hashem, Jamal; Corbally, Martin; Farhan, Abeer; Al Hamad, Hamad; Elhennawy, Rawan; AlKooheji, Mariam; AlYusuf, Manar; [...]Clinical practice selectively follows acute appendicitis guidelinesView onlineSchließen
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Published in: European Journal of Trauma and Emergency Surgery
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Young, Nathalie; Ahl Hulme, Rebecka; Forssten, Maximilian Peter; Kaplan, Lewis Jay; Walsh, Thomas Noel; Cao, Yang; Mohseni, Shahin; Bass, Gary Alan; Biloslavo, Alan; Kurihara, Hayato; Martinez-Casas, Isidro; Pereira, Jorge; Pourlotfi, Arvid; Ryan, Éanna J.; Tolonen, Matti; Louri, Nayef; Nedham, Fatema; Walsh, Thomas Noel; Hashem, Jamal; Corbally, Martin; Farhan, Abeer; Al Hamad, Hamad; Elhennawy, Rawan; AlKooheji, Mariam; [...]Graded operative autonomy in emergency appendectomy mirrors case-complexity: surgical training insights from the SnapAppy prospective observational studyView onlineSchließen
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Published in: European Journal of Trauma and Emergency Surgery
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Forssten, Maximilian Peter; Kaplan, Lewis J.; Tolonen, Matti; Martinez-Casas, Isidro; Cao, Yang; Walsh, Thomas N.; Bass, Gary Alan; Mohseni, Shahin; Ahl Hulme, Rebecka; Biloslavo, Alan; Kurihara, Hayato; Pereira, Jorge; Pourlotfi, Arvid; Ryan, Éanna J.; Louri, Nayef; Nedham, Fatema; Walsh, Thomas Noel; Hashem, Jamal; Corbally, Martin; Farhan, Abeer; Al Hamad, Hamad; Elhennawy, Rawan; AlKooheji, Mariam; AlYusuf, Manar; [...]Surgical management of acute appendicitis during the European COVID-19 second wave: safe and effectiveView onlineSchließen
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Published in: European Journal of Trauma and Emergency Surgery