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Lu, Wei; Zhang, Yu; McDonald, David O.; Jing, Huie; Carroll, Bernadette; Robertson, Nic; Zhang, Qian; Griffin, Helen; Sanderson, Sharon; Lakey, Jeremy H.; Morgan, Neil V.; Reynard, Louise N.; Zheng, Lixin; Murdock, Heardley M.; Turvey, Stuart E.; Hackett, Scott J.; Prestidge, Tim; Hall, Julie M.; Cant, Andrew J.; Matthews, Helen F.; Koref, Mauro F. Santibanez; Simon, Anna Katharina; Korolchuk, Viktor I.; Lenardo, Michael J.; [...]Dual Proteolytic Pathways Govern Glycolysis and Immune CompetenceView onlineSchließen
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Published in: Cell
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Giorgia Bucciol; Leen Moens; Masato Ogishi; Darawan Rinchai; Daniela Matuozzo; Mana Momenilandi; Nacim Kerrouche; Catherine M. Cale; Elsa R. Treffeisen; Mohammad Al Salamah; Bandar K. Al-Saud; Alain Lachaux; Remi Duclaux-Loras; Marie Meignien; Aziz Bousfiha; Ibtihal Benhsaien; Anna Shcherbina; Anna Roppelt; COVID Human Genetic Effort; Florian Gothe; Nadhira Houhou-Fidouh; Scott J. Hackett; Lisa M. Bartnikas; Michelle C. Maciag; [...]Human inherited complete STAT2 deficiency underlies inflammatory viral diseasesView onlineSchließen
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Published in: The Journal of Clinical Investigation
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Bucciol, Giorgia; Moens, Leen; Ogishi, Masato; Rinchai, Darawan; Matuozzo, Daniela; Momenilandi, Mana; Kerrouche, Nacim; Cale, Catherine M.; Treffeisen, Elsa R.; Al Salamah, Mohammad; Al-Saud, Bandar K.; Lachaux, Alain; Duclaux-Loras, Remi; Meignien, Marie; Bousfiha, Aziz; Benhsaien, Ibtihal; Shcherbina, Anna; Roppelt, Anna; Gothe, Florian; Houhou-Fidouh, Nadhira; Hackett, Scott J.; Bartnikas, Lisa M.; Maciag, Michelle C.; Alosaimi, Mohammed F.; [...]Human inherited complete STAT2 deficiency underlies inflammatory viral diseasesView onlineSchließen
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Published in: Journal of Clinical Investigation
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Wiseman, Dexter J; Thwaites, Ryan S; Drysdale, Simon B; Janet, Sophie; Donaldson, Gavin C; Wedzicha, Jadwiga A; Openshaw, Peter J; Nair, Harish; Campbell, Harry; Shi, Ting; Zhang, Shanshan; Li, You; Openshaw, Peter; Wedzicha, Jadwiga; Falsey, Ann; Miller, Mark; Beutels, Philippe; Bont, Louis; Pollard, Andrew; Molero, Eva; Martinon-Torres, Federico; Heikkinen, Terho; Meijer, Adam; Kølsen Fischer, Thea; [...]Immunological and Inflammatory Biomarkers of Susceptibility and Severity in Adult Respiratory Syncytial Virus InfectionsView onlineSchließen
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Published in: The Journal of Infectious Diseases
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Raichurkar, Pratik; Denehy, Linda; Solomon, Michael; Koh, Cherry; Pillinger, Neil; Hogan, Sophie; McBride, Kate; Carey, Sharon; Bartyn, Jenna; Hirst, Nicholas; Steffens, Daniel; Allen, Jonathan; Ancog, Kevin; Angenete, Eva; Ansari, Nabila; Ausania, Fabio; Beaumont, Anna; Beilstein, Christian; Berrevoet, Frederik; Boden, Ianthe; Bostock, Kimberley; Bothe, Janine; Brandstrup, Birgitte; Brennan, Louise; [...]ASO Visual Abstract: Research Priorities in Prehabilitation for Patients Undergoing Cancer Surgery—An International Delphi StudyView onlineSchließen
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Published in: Annals of Surgical Oncology
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Raichurkar, Pratik; Denehy, Linda; Solomon, Michael; Koh, Cherry; Pillinger, Neil; Hogan, Sophie; McBride, Kate; Carey, Sharon; Bartyn, Jenna; Hirst, Nicholas; Steffens, Daniel; Allen, Jonathan; Ancog, Kevin; Angenete, Eva; Ansari, Nabila; Ausania, Fabio; Beaumont, Anna; Beilstein, Christian; Berrevoet, Frederik; Boden, Ianthe; Bostock, Kimberley; Bothe, Janine; Brandstrup, Birgitte; Brennan, Louise; [...]Research Priorities in Prehabilitation for Patients Undergoing Cancer Surgery: An International Delphi StudyView onlineSchließen
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Published in: Annals of Surgical Oncology
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Lewin, Harris A.; Richards, Stephen; Lieberman Aiden, Erez; Allende, Miguel L.; Archibald, John M.; Bálint, Miklós; Barker, Katharine B.; Baumgartner, Bridget; Belov, Katherine; Bertorelle, Giorgio; Blaxter, Mark L.; Cai, Jing; Caperello, Nicolette D.; Carlson, Keith; Castilla-Rubio, Juan Carlos; Chaw, Shu-Miaw; Chen, Lei; Childers, Anna K.; Coddington, Jonathan A.; Conde, Dalia A.; Corominas, Montserrat; Crandall, Keith A.; Crawford, Andrew J.; DiPalma, Federica; [...]The Earth BioGenome Project 2020: Starting the clockView onlineSchließen
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Published in: Proceedings of the National Academy of Sciences
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Minskaia, Ekaterina; Maimaris, Jesmeen; Jenkins, Persephone; Albuquerque, Adriana S.; Hong, Ying; Eleftheriou, Despina; Gilmour, Kimberly C.; Grace, Richard; Moreira, Fernando; Grimbacher, Bodo; Adhya, Zoe; Alachkar, Hana; Anantharachagan, Ariharan; Antrobus, Richard; Arumugakani, Gururaj; Bacchelli, Chiara; Baxendale, Helen; Bethune, Claire; Bibi, Shahnaz; Boardman, Barbara; Booth, Claire; Browning, Michael; Brownlie, Mary; Burns, Siobhan; [...]Autosomal Dominant STAT6 Gain of Function Causes Severe Atopy Associated with LymphomaView onlineSchließen
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Published in: Journal of Clinical Immunology
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Tuijnenburg, Paul; Lango Allen, Hana; Burns, Siobhan O.; Greene, Daniel; Jansen, Machiel H.; Staples, Emily; Stephens, Jonathan; Carss, Keren J.; Biasci, Daniele; Baxendale, Helen; Thomas, Moira; Chandra, Anita; Kiani-Alikhan, Sorena; Longhurst, Hilary J.; Seneviratne, Suranjith L.; Oksenhendler, Eric; Simeoni, Ilenia; de Bree, Godelieve J.; Tool, Anton T.J.; van Leeuwen, Ester M.M.; Ebberink, Eduard H.T.M.; Meijer, Alexander B.; Tuna, Salih; Whitehorn, Deborah; [...]Loss-of-function nuclear factor κB subunit 1 (NFKB1) variants are the most common monogenic cause of common variable immunodeficiency in EuropeansView onlineSchließen
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Published in: Journal of Allergy and Clinical Immunology
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Lorenzini, Tiziana; Fliegauf, Manfred; Klammer, Nils; Frede, Natalie; Proietti, Michele; Bulashevska, Alla; Camacho-Ordonez, Nadezhda; Varjosalo, Markku; Kinnunen, Matias; de Vries, Esther; van der Meer, Jos W.M.; Ameratunga, Rohan; Roifman, Chaim M.; Schejter, Yael D.; Kobbe, Robin; Hautala, Timo; Atschekzei, Faranaz; Schmidt, Reinhold E.; Schröder, Claudia; Stepensky, Polina; Shadur, Bella; Pedroza, Luis A.; van der Flier, Michiel; Martínez-Gallo, Mónica; [...]Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutationsView onlineSchließen
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Published in: Journal of Allergy and Clinical Immunology
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Cacheiro, Pilar; Muñoz-Fuentes, Violeta; Murray, Stephen A.; Dickinson, Mary E.; Bucan, Maja; Nutter, Lauryl M. J.; Peterson, Kevin A.; Haselimashhadi, Hamed; Flenniken, Ann M.; Morgan, Hugh; Westerberg, Henrik; Konopka, Tomasz; Hsu, Chih-Wei; Christiansen, Audrey; Lanza, Denise G.; Beaudet, Arthur L.; Heaney, Jason D.; Fuchs, Helmut; Gailus-Durner, Valerie; Sorg, Tania; Prochazka, Jan; Novosadova, Vendula; Lelliott, Christopher J.; Wardle-Jones, Hannah; [...]Human and mouse essentiality screens as a resource for disease gene discoveryView onlineSchließen
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Published in: Nature Communications
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Faheem, Waleed; Nandra, Taran; Richardson, Sarah; Saliu, David; Wilson, Daisy; Jackson, Thomas A.; Magill, Laura; McCluskey, Lauren; Perry, Rita; Welch, Carly; Wilson, Daisy; Copeland, Claire; Cunningham, Emma L.; Davis, Daniel; Treml, Jonathan; Pinkney, Thomas; Quinn, Terrence; Nightingale, Peter; Jelley, Benjamin; Gaunt, Victoria; Lochlainn, Mary Ni; Giridharan, Kumudhini; Alsahab, Mustafa; Makin, Stephen; [...]Increasing frailty is associated with higher prevalence and reduced recognition of delirium in older hospitalised inpatients: results of a multi-centre studyView onlineSchließen
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Published in: European Geriatric Medicine
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Whitworth, James; Smith, Philip S.; Martin, Jose-Ezequiel; West, Hannah; Luchetti, Andrea; Rodger, Faye; Clark, Graeme; Carss, Keren; Stephens, Jonathan; Stirrups, Kathleen; Penkett, Chris; Mapeta, Rutendo; Ashford, Sofie; Megy, Karyn; Shakeel, Hassan; Ahmed, Munaza; Adlard, Julian; Barwell, Julian; Brewer, Carole; Casey, Ruth T.; Armstrong, Ruth; Cole, Trevor; Evans, Dafydd Gareth; Fostira, Florentia; [...]Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor PhenotypesView onlineSchließen
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Published in: The American Journal of Human Genetics
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Ito, Yoko; Carss, Keren J.; Duarte, Sofia T.; Hartley, Taila; Keren, Boris; Kurian, Manju A.; Marey, Isabelle; Charles, Perinne; Mendonça, Carla; Nava, Caroline; Pfundt, Rolph; Sanchis-Juan, Alba; van Bokhoven, Hans; van Essen, Anthony; van Ravenswaaij-Arts, Conny; Boycott, Kym M.; Kernohan, Kristin D.; Dyack, Sarah; Raymond, F. Lucy; Aitman, Timothy; Bennett, David; Caulfield, Mark; Chinnery, Patrick; Gale, Daniel; [...]De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with SeizuresView onlineSchließen
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Published in: The American Journal of Human Genetics
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Farmery, James H. R.; Smith, Mike L.; Huissoon, Aarnoud; Furnell, Abigail; Mead, Adam; Levine, Adam P.; Manzur, Adnan; Thrasher, Adrian; Greenhalgh, Alan; Parker, Alasdair; Sanchis-Juan, Alba; Richter, Alex; Gardham, Alice; Lawrie, Allan; Sohal, Aman; Creaser-Myers, Amanda; Frary, Amy; Greinacher, Andreas; Themistocleous, Andreas; Peacock, Andrew J.; Marshall, Andrew; Mumford, Andrew; Rice, Andrew; Webster, Andrew; [...]Publisher Correction: Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing dataView onlineSchließen
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Published in: Scientific Reports
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Farmery, James H. R.; Smith, Mike L.; Huissoon, Aarnoud; Furnell, Abigail; Mead, Adam; Levine, Adam P.; Manzur, Adnan; Thrasher, Adrian; Greenhalgh, Alan; Parker, Alasdair; Sanchis-Juan, Alba; Richter, Alex; Gardham, Alice; Lawrie, Allan; Sohal, Aman; Creaser-Myers, Amanda; Frary, Amy; Greinacher, Andreas; Themistocleous, Andreas; Peacock, Andrew J.; Marshall, Andrew; Mumford, Andrew; Rice, Andrew; Webster, Andrew; [...]Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing dataView onlineSchließen
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Published in: Scientific Reports
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Arno, Gavin; Carss, Keren J.; Hull, Sarah; Zihni, Ceniz; Robson, Anthony G.; Fiorentino, Alessia; Hardcastle, Alison J.; Holder, Graham E.; Cheetham, Michael E.; Plagnol, Vincent; Moore, Anthony T.; Raymond, F. Lucy; Matter, Karl; Balda, Maria S.; Webster, Andrew R.; Black, Graeme; Hall, Georgina; Ingram, Stuart; Gillespie, Rachel; Manson, Forbes; Sergouniotis, Panagiotis; Inglehearn, Chris; Toomes, Carmel; Ali, Manir; [...]Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal DegenerationView onlineSchließen
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Published in: The American Journal of Human Genetics
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Carss, Keren J.; Arno, Gavin; Erwood, Marie; Stephens, Jonathan; Sanchis-Juan, Alba; Hull, Sarah; Megy, Karyn; Grozeva, Detelina; Dewhurst, Eleanor; Malka, Samantha; Plagnol, Vincent; Penkett, Christopher; Stirrups, Kathleen; Rizzo, Roberta; Wright, Genevieve; Josifova, Dragana; Bitner-Glindzicz, Maria; Scott, Richard H.; Clement, Emma; Allen, Louise; Armstrong, Ruth; Brady, Angela F.; Carmichael, Jenny; Chitre, Manali; [...]Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal DiseaseView onlineSchließen
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Published in: The American Journal of Human Genetics
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Hadinnapola, Charaka; Bleda, Marta; Haimel, Matthias; Screaton, Nicholas; Swift, Andrew; Dorfmüller, Peter; Preston, Stephen D.; Southwood, Mark; Hernandez-Sanchez, Jules; Martin, Jennifer; Treacy, Carmen; Yates, Katherine; Bogaard, Harm; Church, Colin; Coghlan, Gerry; Condliffe, Robin; Corris, Paul A.; Gibbs, Simon; Girerd, Barbara; Holden, Simon; Humbert, Marc; Kiely, David G.; Lawrie, Allan; Machado, Rajiv; [...]Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial HypertensionView onlineSchließen
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Published in: Circulation
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Côté, Marie-Ève; Boulay, Marie-Ève; Plante, Sophie; Chakir, Jamila; Boulet, Louis-Philippe; Ahmed, Hanan; Ospina, Maria-Beatriz; Sideri, Kyriaki; Vliagoftis, Harissios; Johnson, Sara F.; Woodgate, Roberta L.; Cros, Guilhem; Teira, Pierre; Cellot, Sonia; Bittencourt, Henrique; Decaluwe, Helene; Vachon, Marie France; Duval, Michel; Haddad, Elie; Kim, Vy H. D.; Pham-Huy, Anne; Grunebaum, Eyal; Oliveria, John-Paul; Phan, Stephanie; [...]Proceedings of the Canadian society of allergy and clinical immunology annual scientific meeting 2015View onlineSchließen
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Published in: Allergy, Asthma & Clinical Immunology