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Year Number of Results
2014 2
2015 3
2016 1
2017 1
2018 2
2019 3
2020 2
2022 1
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2024 0

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15 results

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Page 1
Models of KPTN-related disorder implicate mTOR signalling in cognitive and overgrowth phenotypes.
Levitin MO, Rawlins LE, Sanchez-Andrade G, Arshad OA, Collins SC, Sawiak SJ, Iffland PH 2nd, Andersson MHL, Bupp C, Cambridge EL, Coomber EL, Ellis I, Herkert JC, Ironfield H, Jory L, Kretz PF, Kant SG, Neaverson A, Nibbeling E, Rowley C, Relton E, Sanderson M, Scott EM, Stewart H, Shuen AY, Schreiber J, Tuck L, Tonks J, Terkelsen T, van Ravenswaaij-Arts C, Vasudevan P, Wenger O, Wright M, Day A, Hunter A, Patel M, Lelliott CJ, Crino PB, Yalcin B, Crosby AH, Baple EL, Logan DW, Hurles ME, Gerety SS. Levitin MO, et al. Among authors: coomber el. Brain. 2023 Nov 2;146(11):4766-4783. doi: 10.1093/brain/awad231. Brain. 2023. PMID: 37437211 Free PMC article.
A novel mutation in EROS (CYBC1) causes chronic granulomatous disease.
Mortimer PM, Nichols E, Thomas J, Shanbhag R, Singh N, Coomber EL, Malik TH, Pickering MC, Randzavola L, Rae W, Bhattad S, Thomas DC. Mortimer PM, et al. Among authors: coomber el. Clin Immunol. 2023 Oct;255:109761. doi: 10.1016/j.clim.2023.109761. Epub 2023 Sep 8. Clin Immunol. 2023. PMID: 37673227
Immunodeficiency, autoimmunity, and increased risk of B cell malignancy in humans with TRAF3 mutations.
Rae W, Sowerby JM, Verhoeven D, Youssef M, Kotagiri P, Savinykh N, Coomber EL, Boneparth A, Chan A, Gong C, Jansen MH, du Long R, Santilli G, Simeoni I, Stephens J, Wu K, Zinicola M, Allen HL, Baxendale H, Kumararatne D, Gkrania-Klotsas E, Scheffler Mendoza SC, Yamazaki-Nakashimada MA, Ruiz LB, Rojas-Maruri CM, Lugo Reyes SO, Lyons PA, Williams AP, Hodson DJ, Bishop GA, Thrasher AJ, Thomas DC, Murphy MP, Vyse TJ, Milner JD, Kuijpers TW, Smith KGC. Rae W, et al. Among authors: coomber el. Sci Immunol. 2022 Aug 12;7(74):eabn3800. doi: 10.1126/sciimmunol.abn3800. Epub 2022 Aug 12. Sci Immunol. 2022. PMID: 35960817
Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders.
Singh T, Kurki MI, Curtis D, Purcell SM, Crooks L, McRae J, Suvisaari J, Chheda H, Blackwood D, Breen G, Pietiläinen O, Gerety SS, Ayub M, Blyth M, Cole T, Collier D, Coomber EL, Craddock N, Daly MJ, Danesh J, DiForti M, Foster A, Freimer NB, Geschwind D, Johnstone M, Joss S, Kirov G, Körkkö J, Kuismin O, Holmans P, Hultman CM, Iyegbe C, Lönnqvist J, Männikkö M, McCarroll SA, McGuffin P, McIntosh AM, McQuillin A, Moilanen JS, Moore C, Murray RM, Newbury-Ecob R, Ouwehand W, Paunio T, Prigmore E, Rees E, Roberts D, Sambrook J, Sklar P, St Clair D, Veijola J, Walters JT, Williams H; Swedish Schizophrenia Study; INTERVAL Study; DDD Study; UK10 K Consortium; Sullivan PF, Hurles ME, O'Donovan MC, Palotie A, Owen MJ, Barrett JC. Singh T, et al. Among authors: coomber el. Nat Neurosci. 2016 Apr;19(4):571-7. doi: 10.1038/nn.4267. Epub 2016 Mar 14. Nat Neurosci. 2016. PMID: 26974950 Free PMC article.
An African Salmonella Typhimurium ST313 sublineage with extensive drug-resistance and signatures of host adaptation.
Van Puyvelde S, Pickard D, Vandelannoote K, Heinz E, Barbé B, de Block T, Clare S, Coomber EL, Harcourt K, Sridhar S, Lees EA, Wheeler NE, Klemm EJ, Kuijpers L, Mbuyi Kalonji L, Phoba MF, Falay D, Ngbonda D, Lunguya O, Jacobs J, Dougan G, Deborggraeve S. Van Puyvelde S, et al. Among authors: coomber el. Nat Commun. 2019 Sep 19;10(1):4280. doi: 10.1038/s41467-019-11844-z. Nat Commun. 2019. PMID: 31537784 Free PMC article.
Interleukin-22 promotes phagolysosomal fusion to induce protection against Salmonella enterica Typhimurium in human epithelial cells.
Forbester JL, Lees EA, Goulding D, Forrest S, Yeung A, Speak A, Clare S, Coomber EL, Mukhopadhyay S, Kraiczy J, Schreiber F, Lawley TD, Hancock REW, Uhlig HH, Zilbauer M, Powrie F, Dougan G. Forbester JL, et al. Among authors: coomber el. Proc Natl Acad Sci U S A. 2018 Oct 2;115(40):10118-10123. doi: 10.1073/pnas.1811866115. Epub 2018 Sep 14. Proc Natl Acad Sci U S A. 2018. PMID: 30217896 Free PMC article.
EROS/CYBC1 mutations: Decreased NADPH oxidase function and chronic granulomatous disease.
Thomas DC, Charbonnier LM, Schejtman A, Aldhekri H, Coomber EL, Dufficy ER, Beenken AE, Lee JC, Clare S, Speak AO, Thrasher AJ, Santilli G, Al-Mousa H, Alkuraya FS, Chatila TA, Smith KGC. Thomas DC, et al. Among authors: coomber el. J Allergy Clin Immunol. 2019 Feb;143(2):782-785.e1. doi: 10.1016/j.jaci.2018.09.019. Epub 2018 Oct 9. J Allergy Clin Immunol. 2019. PMID: 30312704 Free PMC article.
15 results