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Sewell, Marc T. [Author]; Sewell, Laura M. [Author]The software architect's profession : an introductionClose
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Published in: Software architecture series
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Vishnoi, Monika; Boral, Debasish; Liu, Haowen; Sprouse, Marc L.; Yin, Wei; Goswami-Sewell, Debalina; Tetzlaff, Michael T.; Davies, Michael A.; Oliva, Isabella C. Glitza; Marchetti, DarioTargeting USP7 Identifies a Metastasis-Competent State within Bone Marrow–Resident Melanoma CTCsView onlineSchließen
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Published in: Cancer Research
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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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Dixon, Peter H.; Levine, Adam P.; Cebola, Inês; Chan, Melanie M. Y.; Amin, Aliya S.; Aich, Anshul; Mozere, Monika; Maude, Hannah; Mitchell, Alice L.; Zhang, Jun; Adlard, Julian; Ahmed, Munaza; Aitman, Tim; Alachkar, Hana; Allsup, David; Almeida-King, Jeff; Ancliff, Philip; Antrobus, Richard; Armstrong, Ruth; Arno, Gavin; Ashford, Sofie; Astle, William; Attwood, Anthony; Babbs, Chris; [...]GWAS meta-analysis of intrahepatic cholestasis of pregnancy implicates multiple hepatic genes and regulatory elementsView onlineSchließen
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Published in: Nature Communications
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Wei, Wei; Tuna, Salih; Keogh, Michael J.; Smith, Katherine R.; Aitman, Timothy J.; Beales, Phil L.; Bennett, David L.; Gale, Daniel P.; Bitner-Glindzicz, Maria A. K.; Black, Graeme C.; Brennan, Paul; Elliott, Perry; Flinter, Frances A.; Floto, R. Andres; Houlden, Henry; Irving, Melita; Koziell, Ania; Maher, Eamonn R.; Markus, Hugh S.; Morrell, Nicholas W.; Newman, William G.; Roberts, Irene; Sayer, John A.; Smith, Kenneth G. C.; [...]Germline selection shapes human mitochondrial DNA diversityView onlineSchließen
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Published in: Science
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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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Turro, Ernest; Astle, William J.; Megy, Karyn; Gräf, Stefan; Greene, Daniel; Shamardina, Olga; Allen, Hana Lango; Sanchis-Juan, Alba; Frontini, Mattia; Thys, Chantal; Stephens, Jonathan; Mapeta, Rutendo; Burren, Oliver S.; Downes, Kate; Haimel, Matthias; Tuna, Salih; Deevi, Sri V. V.; Aitman, Timothy J.; Bennett, David L.; Calleja, Paul; Carss, Keren; Caulfield, Mark J.; Chinnery, Patrick F.; Dixon, Peter H.; [...]Whole-genome sequencing of patients with rare diseases in a national health systemView onlineSchließen
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Published in: Nature
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Thaventhiran, James E. D.; Lango Allen, Hana; Burren, Oliver S.; Rae, William; Greene, Daniel; Staples, Emily; Zhang, Zinan; Farmery, James H. R.; Simeoni, Ilenia; Rivers, Elizabeth; Maimaris, Jesmeen; Penkett, Christopher J.; Stephens, Jonathan; Deevi, Sri V. V.; Sanchis-Juan, Alba; Gleadall, Nicholas S.; Thomas, Moira J.; Sargur, Ravishankar B.; Gordins, Pavels; Baxendale, Helen E.; Brown, Matthew; Tuijnenburg, Paul; Worth, Austen; Hanson, Steven; [...]Publisher Correction: Whole-genome sequencing of a sporadic primary immunodeficiency cohortView onlineSchließen
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Published in: Nature
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Thaventhiran, James E. D.; Lango Allen, Hana; Burren, Oliver S.; Rae, William; Greene, Daniel; Staples, Emily; Zhang, Zinan; Farmery, James H. R.; Simeoni, Ilenia; Rivers, Elizabeth; Maimaris, Jesmeen; Penkett, Christopher J.; Stephens, Jonathan; Deevi, Sri V. V.; Sanchis-Juan, Alba; Gleadall, Nicholas S.; Thomas, Moira J.; Sargur, Ravishankar B.; Gordins, Pavels; Baxendale, Helen E.; Brown, Matthew; Tuijnenburg, Paul; Worth, Austen; Hanson, Steven; [...]Whole-genome sequencing of a sporadic primary immunodeficiency cohortView onlineSchließen
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Published in: Nature
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Gorman, Kathleen M.; Meyer, Esther; Grozeva, Detelina; Spinelli, Egidio; McTague, Amy; Sanchis-Juan, Alba; Carss, Keren J.; Bryant, Emily; Reich, Adi; Schneider, Amy L.; Pressler, Ronit M.; Simpson, Michael A.; Debelle, Geoff D.; Wassmer, Evangeline; Morton, Jenny; Sieciechowicz, Diana; Jan-Kamsteeg, Eric; Paciorkowski, Alex R.; King, Mary D.; Cross, J. Helen; Poduri, Annapurna; Mefford, Heather C.; Scheffer, Ingrid E.; Haack, Tobias B.; [...]Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-DyskinesiaView onlineSchließen
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Published in: The American Journal of Human Genetics
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Liew, Felicity; Talwar, Shubha; Cross, Andy; Willett, Brian J.; Scott, Sam; Logan, Nicola; Siggins, Matthew K.; Swieboda, Dawid; Sidhu, Jasmin K.; Efstathiou, Claudia; Moore, Shona C.; Davis, Chris; Mohamed, Noura; Nunag, Jose; King, Clara; Thompson, A.A. Roger; Rowland-Jones, Sarah L.; Docherty, Annemarie B.; Chalmers, James D.; Ho, Ling-Pei; Horsley, Alexander; Raman, Betty; Poinasamy, Krisnah; Marks, Michael; [...]SARS-CoV-2-specific nasal IgA wanes 9 months after hospitalisation with COVID-19 and is not induced by subsequent vaccinationView onlineSchließen
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Published in: eBioMedicine
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Lundqvist, Andreas; van Hoef, Vincent; Zhang, Xiaonan; Wennerberg, Erik; Lorent, Julie; Witt, Kristina; Sanz, Laia Masvidal; Liang, Shuo; Murray, Shannon; Larsson, Ola; Kiessling, Rolf; Mao, Yumeng; Sidhom, John-William; Bessell, Catherine A.; Havel, Jonathan; Schneck, Jonathan; Chan, Timothy A.; Sachsenmeier, Eliot; Woods, David; Berglund, Anders; Ramakrishnan, Rupal; Sodre, Andressa; Weber, Jeffrey; Zappasodi, Roberta; [...]31st Annual Meeting and Associated Programs of the Society for Immunotherapy of Cancer (SITC 2016): part one : National Harbor, MD, USA. 9-13 November 2016View onlineSchließen
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Published in: Journal for ImmunoTherapy of Cancer
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Pisani, Luigi; Algera, Anna Geke; Neto, Ary Serpa; Azevedo, Luciano; Pham, Tài; Paulus, Frederique; de Abreu, Marcelo Gama; Pelosi, Paolo; Dondorp, Arjen M; Bellani, Giacomo; Laffey, John G; Schultz, Marcus J; Martinez, Amadeu; Leal, Livia; Jorge Pereira, Antonio; de Oliveira Maia, Marcelo; Neto, Josè Aires; Piras, Claudio; Caser, Eliana Bernadete; Moreira, Cora Lavigne; Braga Gusman, Pablo; Dalcomune, Dyanne Moysés; Ribeiro de Carvalho, Alexandre Guilherme; Gondim, Louise Aline Romão; [...]Geoeconomic variations in epidemiology, ventilation management, and outcomes in invasively ventilated intensive care unit patients without acute respiratory distress syndrome: a pooled analysis of four observational studiesView onlineSchließen
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Published in: The Lancet Global Health