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  1. 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 Hypertension

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    Ovid Technologies (Wolters Kluwer Health), 2017

    Published in: Circulation

  2. 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 2015

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    Springer Science and Business Media LLC, 2016

    Published in: Allergy, Asthma & Clinical Immunology

  3. 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 elements

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    Springer Science and Business Media LLC, 2022

    Published in: Nature Communications

  4. Aitken, Jim; Ambrose, Karen; Barrell, Sam; Beale, Rupert; Bineva-Todd, Ganka; Biswas, Dhruva; Byrne, Richard; Caidan, Simon; Cherepanov, Peter; Churchward, Laura; Clark, Graham; Crawford, Margaret; Cubitt, Laura; Dearing, Vicky; Earl, Christopher; Edwards, Amelia; Ekin, Chris; Fidanis, Efthymios; Gaiba, Alessandra; Gamblin, Steve; Gandhi, Sonia; Goldman, Jacki; Goldstone, Robert; Grant, Paul R.; [...]

    Author Correction: Scalable and robust SARS-CoV-2 testing in an academic center

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    Springer Science and Business Media LLC, 2020

    Published in: Nature Biotechnology

  5. Aitken, Jim; Ambrose, Karen; Barrell, Sam; Beale, Rupert; Bineva-Todd, Ganka; Biswas, Dhruva; Byrne, Richard; Caidan, Simon; Cherepanov, Peter; Churchward, Laura; Clark, Graham; Crawford, Margaret; Cubitt, Laura; Dearing, Vicky; Earl, Christopher; Edwards, Amelia; Ekin, Chris; Fidanis, Efthymios; Gaiba, Alessandra; Gamblin, Steve; Gandhi, Sonia; Goldman, Jacki; Goldstone, Robert; Grant, Paul R.; [...]

    Scalable and robust SARS-CoV-2 testing in an academic center

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    Springer Science and Business Media LLC, 2020

    Published in: Nature Biotechnology

  6. 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 cohort

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    Springer Science and Business Media LLC, 2020

    Published in: Nature

  7. 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 cohort

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    Springer Science and Business Media LLC, 2020

    Published in: Nature

  8. 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-Dyskinesia

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    Elsevier BV, 2019

    Published in: The American Journal of Human Genetics