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2020 6
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2024 1

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Page 1
GNAQ/GNA11 Mosaicism Is Associated with Abnormal Serum Calcium Indices and Microvascular Neurocalcification.
Knöpfel N, Zecchin D, Richardson H, Polubothu S, Barberan-Martin S, Cullup T, Gholam K, Heales S, Krywawych S, López-Balboa P, Muwanga-Nanyonjo N, Ogunbiyi O, Puvirajasinghe C, Solman L, Swarbrick K, Syed SB, Tahir Z, Tisdall MM, Allgrove J, Chesover AD, Aylett SE, Jacques TS, Hannan FM, Löbel U, Semple RK, Thakker RV, Kinsler VA. Knöpfel N, et al. Among authors: puvirajasinghe c. J Invest Dermatol. 2024 Apr;144(4):820-832.e9. doi: 10.1016/j.jid.2023.09.008. Epub 2023 Oct 4. J Invest Dermatol. 2024. PMID: 37802294 Free article.
Late diagnoses of Dravet syndrome: How many individuals are we missing?
Silvennoinen K, Puvirajasinghe C, Hudgell K, Sidhu MK, Martins Custodio H; Genomics England Research Consortium; Jones WD, Balestrini S, Sisodiya SM. Silvennoinen K, et al. Among authors: puvirajasinghe c. Epilepsia Open. 2021 Dec;6(4):770-776. doi: 10.1002/epi4.12525. Epub 2021 Aug 5. Epilepsia Open. 2021. PMID: 34268891 Free PMC article.
Scalable and robust SARS-CoV-2 testing in an academic center.
Aitken J, Ambrose K, Barrell S, Beale R, Bineva-Todd G, Biswas D, Byrne R, Caidan S, Cherepanov P, Churchward L, Clark G, Crawford M, Cubitt L, Dearing V, Earl C, Edwards A, Ekin C, Fidanis E, Gaiba A, Gamblin S, Gandhi S, Goldman J, Goldstone R, Grant PR, Greco M, Heaney J, Hindmarsh S, Houlihan CF, Howell M, Hubank M, Hughes D, Instrell R, Jackson D, Jamal-Hanjani M, Jiang M, Johnson M, Jones L, Kanu N, Kassiotis G, Kirk S, Kjaer S, Levett A, Levett L, Levi M, Lu WT, MacRae JI, Matthews J, McCoy LE, Moore C, Moore D, Nastouli E, Nicod J, Nightingale L, Olsen J, O'Reilly N, Pabari A, Papayannopoulos V, Patel N, Peat N, Pollitt M, Ratcliffe P, Reis e Sousa C, Rosa A, Rosenthal R, Roustan C, Rowan A, Shin GY, Snell DM, Song OR, Spyer MJ, Strange A, Swanton C, Turner JMA, Turner M, Wack A, Walker PA, Ward S, Wong WK, Wright J, Wu M; Crick COVID-19 Consortium. Aitken J, et al. Nat Biotechnol. 2020 Aug;38(8):927-931. doi: 10.1038/s41587-020-0588-y. Nat Biotechnol. 2020. PMID: 32555528 No abstract available.
Real-life survey of pitfalls and successes of precision medicine in genetic epilepsies.
Balestrini S, Chiarello D, Gogou M, Silvennoinen K, Puvirajasinghe C, Jones WD, Reif P, Klein KM, Rosenow F, Weber YG, Lerche H, Schubert-Bast S, Borggraefe I, Coppola A, Troisi S, Møller RS, Riva A, Striano P, Zara F, Hemingway C, Marini C, Rosati A, Mei D, Montomoli M, Guerrini R, Cross JH, Sisodiya SM. Balestrini S, et al. Among authors: puvirajasinghe c. J Neurol Neurosurg Psychiatry. 2021 Oct;92(10):1044-1052. doi: 10.1136/jnnp-2020-325932. Epub 2021 Apr 26. J Neurol Neurosurg Psychiatry. 2021. PMID: 33903184 Free PMC article.
Clinical outcomes of COVID-19 in long-term care facilities for people with epilepsy.
Balestrini S, Koepp MJ, Gandhi S, Rickman HM, Shin GY, Houlihan CF, Anders-Cannon J, Silvennoinen K, Xiao F, Zagaglia S, Hudgell K, Ziomek M, Haimes P, Sampson A, Parker A, Helen Cross J, Pardington R, Nastouli E, Swanton C; Crick COVID Consortium (CCC); Sander JW, Sisodiya SM; ChAlfont keepS vulnerAble People safe (ASAP) Consortium:. Balestrini S, et al. Epilepsy Behav. 2021 Feb;115:107602. doi: 10.1016/j.yebeh.2020.107602. Epub 2020 Nov 5. Epilepsy Behav. 2021. PMID: 33279440 Free PMC article.
Pandemic peak SARS-CoV-2 infection and seroconversion rates in London frontline health-care workers.
Houlihan CF, Vora N, Byrne T, Lewer D, Kelly G, Heaney J, Gandhi S, Spyer MJ, Beale R, Cherepanov P, Moore D, Gilson R, Gamblin S, Kassiotis G, McCoy LE, Swanton C; Crick COVID-19 Consortium; Hayward A, Nastouli E; SAFER Investigators. Houlihan CF, et al. Lancet. 2020 Jul 25;396(10246):e6-e7. doi: 10.1016/S0140-6736(20)31484-7. Epub 2020 Jul 9. Lancet. 2020. PMID: 32653078 Free PMC article. No abstract available.
Author Correction: Scalable and robust SARS-CoV-2 testing in an academic center.
Aitken J, Ambrose K, Barrell S, Beale R, Bineva-Todd G, Biswas D, Byrne R, Caidan S, Cherepanov P, Churchward L, Clark G, Crawford M, Cubitt L, Dearing V, Earl C, Edwards A, Ekin C, Fidanis E, Gaiba A, Gamblin S, Gandhi S, Goldman J, Goldstone R, Grant PR, Greco M, Heaney J, Hindmarsh S, Houlihan CF, Howell M, Hubank M, Hughes D, Instrell R, Jackson D, Jamal-Hanjani M, Jiang M, Johnson M, Jones L, Kanu N, Kassiotis G, Kirk S, Kjaer S, Levett A, Levett L, Levi M, Lu WT, MacRae JI, Matthews J, McCoy LE, Moore C, Moore D, Nastouli E, Nicod J, Nightingale L, Olsen J, O'Reilly N, Pabari A, Papayannopoulos V, Patel N, Peat N, Pollitt M, Ratcliffe P, Reis e Sousa C, Rosa A, Rosenthal R, Roustan C, Rowan A, Shin GY, Snell DM, Song OR, Spyer MJ, Strange A, Swanton C, Turner JMA, Turner M, Wack A, Walker PA, Ward S, Wong WK, Wright J, Wu M; Crick COVID-19 Consortium. Aitken J, et al. Nat Biotechnol. 2020 Aug;38(8):1000. doi: 10.1038/s41587-020-0623-z. Nat Biotechnol. 2020. PMID: 32681136 Free PMC article.
Moyamoya and progressive myoclonic epilepsy secondary to CLN6 bi-allelic mutations - A previously unreported association.
Talbot J, Singh P, Puvirajasinghe C; Genomics England Research Consortiumgecip-help@genomicsengland.co.uk; Sisodiya SM, Rugg-Gunn F. Talbot J, et al. Among authors: puvirajasinghe c. Epilepsy Behav Rep. 2020 Aug 31;14:100389. doi: 10.1016/j.ebr.2020.100389. eCollection 2020. Epilepsy Behav Rep. 2020. PMID: 33024953 Free PMC article.