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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2019 3
2020 2
2021 2
2022 4
2023 2
2024 0

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12 results

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Page 1
Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases.
Pagnamenta AT, Camps C, Giacopuzzi E, Taylor JM, Hashim M, Calpena E, Kaisaki PJ, Hashimoto A, Yu J, Sanders E, Schwessinger R, Hughes JR, Lunter G, Dreau H, Ferla M, Lange L, Kesim Y, Ragoussis V, Vavoulis DV, Allroggen H, Ansorge O, Babbs C, Banka S, Baños-Piñero B, Beeson D, Ben-Ami T, Bennett DL, Bento C, Blair E, Brasch-Andersen C, Bull KR, Cario H, Cilliers D, Conti V, Davies EG, Dhalla F, Dacal BD, Dong Y, Dunford JE, Guerrini R, Harris AL, Hartley J, Hollander G, Javaid K, Kane M, Kelly D, Kelly D, Knight SJL, Kreins AY, Kvikstad EM, Langman CB, Lester T, Lines KE, Lord SR, Lu X, Mansour S, Manzur A, Maroofian R, Marsden B, Mason J, McGowan SJ, Mei D, Mlcochova H, Murakami Y, Németh AH, Okoli S, Ormondroyd E, Ousager LB, Palace J, Patel SY, Pentony MM, Pugh C, Rad A, Ramesh A, Riva SG, Roberts I, Roy N, Salminen O, Schilling KD, Scott C, Sen A, Smith C, Stevenson M, Thakker RV, Twigg SRF, Uhlig HH, van Wijk R, Vona B, Wall S, Wang J, Watkins H, Zak J, Schuh AH, Kini U, Wilkie AOM, Popitsch N, Taylor JC. Pagnamenta AT, et al. Genome Med. 2023 Nov 9;15(1):94. doi: 10.1186/s13073-023-01240-0. Genome Med. 2023. PMID: 37946251 Free PMC article.
Prolidase Deficiency Causes Spontaneous T Cell Activation and Lupus-like Autoimmunity.
Hodgson R, Crockford TL, Bhandari A, Kepple JD, Back J, Cawthorne E, Abeler-Dörner L, Laing AG, Clare S, Speak A, Adams DJ, Dougan G, Hayday AC, Deobagkar-Lele M, Cornall RJ, Bull KR. Hodgson R, et al. J Immunol. 2023 Mar 1;210(5):547-557. doi: 10.4049/jimmunol.2200212. J Immunol. 2023. PMID: 36637239 Free PMC article.
SARS-CoV-2-Specific T Cell Responses Are Not Associated with Protection against Reinfection in Hemodialysis Patients.
Shankar S, Beckett J, Tipton T, Ogbe A, Kasanyinga M, Dold C, Lumley S, Dengu F, Rompianesi G, Elgilani F, Longet S, Deeks A, Payne RP, Duncan CJA, Richter A, de Silva TI, Turtle L, Bull K, Barnardo M, Friend PJ, Dunachie SJ, Hester J, Issa F, Barnes E, Carroll MW, Klenerman P. Shankar S, et al. J Am Soc Nephrol. 2022 May;33(5):883-887. doi: 10.1681/ASN.2021121587. Epub 2022 Mar 31. J Am Soc Nephrol. 2022. PMID: 35361708 Free PMC article.
Exploring the relevance of NUP93 variants in steroid-resistant nephrotic syndrome using next generation sequencing and a fly kidney model.
Bierzynska A, Bull K, Miellet S, Dean P, Neal C, Colby E, McCarthy HJ, Hegde S, Sinha MD, Bugarin Diz C, Stirrups K, Megy K, Mapeta R, Penkett C, Marsh S, Forrester N, Afzal M, Stark H, BioResource N, Williams M, Welsh GI, Koziell AB, Hartley PS, Saleem MA. Bierzynska A, et al. Pediatr Nephrol. 2022 Nov;37(11):2643-2656. doi: 10.1007/s00467-022-05440-5. Epub 2022 Feb 24. Pediatr Nephrol. 2022. PMID: 35211795 Free PMC article.
Neutralising antibodies after COVID-19 vaccination in UK haemodialysis patients.
Carr EJ, Wu M, Harvey R, Wall EC, Kelly G, Hussain S, Howell M, Kassiotis G, Swanton C, Gandhi S, Bauer DL; Haemodialysis COVID-19 consortium; Crick COVID Immunity Pipeline; Billany RE, Graham-Brown MP, Beckett J, Bull K, Shankar S, Henderson S, Motallebzadeh R, Salama AD, Harper L, Mark PB, McAdoo S, Willicombe M, Beale R. Carr EJ, et al. Lancet. 2021 Sep 18;398(10305):1038-1041. doi: 10.1016/S0140-6736(21)01854-7. Epub 2021 Aug 13. Lancet. 2021. PMID: 34391504 Free PMC article. No abstract available.
An ontogenetic switch drives the positive and negative selection of B cells.
Xu X, Deobagkar-Lele M, Bull KR, Crockford TL, Mead AJ, Cribbs AP, Sims D, Anzilotti C, Cornall RJ. Xu X, et al. Proc Natl Acad Sci U S A. 2020 Feb 18;117(7):3718-3727. doi: 10.1073/pnas.1915247117. Epub 2020 Feb 4. Proc Natl Acad Sci U S A. 2020. PMID: 32019891 Free PMC article.
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation.
Abeler-Dörner L, Laing AG, Lorenc A, Ushakov DS, Clare S, Speak AO, Duque-Correa MA, White JK, Ramirez-Solis R, Saran N, Bull KR, Morón B, Iwasaki J, Barton PR, Caetano S, Hng KI, Cambridge E, Forman S, Crockford TL, Griffiths M, Kane L, Harcourt K, Brandt C, Notley G, Babalola KO, Warren J, Mason JC, Meeniga A, Karp NA, Melvin D, Cawthorne E, Weinrick B, Rahim A, Drissler S, Meskas J, Yue A, Lux M, Song-Zhao GX, Chan A, Ballesteros Reviriego C, Abeler J, Wilson H, Przemska-Kosicka A, Edmans M, Strevens N, Pasztorek M, Meehan TF, Powrie F, Brinkman R, Dougan G, Jacobs W Jr, Lloyd CM, Cornall RJ, Maloy KJ, Grencis RK, Griffiths GM, Adams DJ, Hayday AC. Abeler-Dörner L, et al. Nat Immunol. 2020 Jan;21(1):86-100. doi: 10.1038/s41590-019-0549-0. Epub 2019 Dec 16. Nat Immunol. 2020. PMID: 31844327 Free PMC article.
12 results