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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.
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.