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Year Number of Results
2008 1
2010 2
2011 1
2012 1
2013 3
2014 3
2017 1
2020 5
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2022 1
2023 4
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2025 3
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26 results

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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: zecchin d. 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 PMC article.
PTPN11 Mosaicism Causes a Spectrum of Pigmentary and Vascular Neurocutaneous Disorders and Predisposes to Melanoma.
Polubothu S, Bender N, Muthiah S, Zecchin D, Demetriou C, Martin SB, Malhotra S, Travnickova J, Zeng Z, Böhm M, Barbarot S, Cottrell C, Davies O, Baselga E, Burrows NP, Carmignac V, Diaz JS, Fink C, Haenssle HA, Happle R, Harland M, Majerowski J, Vabres P, Vincent M, Newton-Bishop JA, Bishop DT, Siegel D, Patton EE, Topf M, Rajan N, Drolet B, Kinsler VA. Polubothu S, et al. Among authors: zecchin d. J Invest Dermatol. 2023 Jun;143(6):1042-1051.e3. doi: 10.1016/j.jid.2022.09.661. Epub 2022 Dec 23. J Invest Dermatol. 2023. PMID: 36566878 Free PMC article.
Mosaic BRAF Fusions Are a Recurrent Cause of Congenital Melanocytic Nevi Targetable by MAPK Pathway Inhibition.
Martin SB, Polubothu S, Bruzos AL, Kelly G, Horswell S, Sauvadet A, Bryant D, Zecchin D, Riachi M, Michailidis F, Sadri A, Muwanga-Nanyonjo N, Lopez-Balboa P, Knöpfel N, Bulstrode N, Pittman A, Yeh I, Kinsler VA. Martin SB, et al. Among authors: zecchin d. J Invest Dermatol. 2024 Mar;144(3):593-600.e7. doi: 10.1016/j.jid.2023.06.213. Epub 2023 Sep 15. J Invest Dermatol. 2024. PMID: 37716647 Free article.
RNA Therapy for Oncogenic NRAS-Driven Nevi Induces Apoptosis.
Bryant D, Barberan-Martin S, Maeshima R, Del Valle Torres I, Rabii M, Baird W, Sauvadet A, Demetriou C, Jones P, Knöpfel N, Michailidis F, Riachi M, Bennett DC, Zecchin D, Pittman A, Polubothu S, Hart S, Kinsler VA. Bryant D, et al. Among authors: zecchin d. J Invest Dermatol. 2025 Jan;145(1):122-134.e11. doi: 10.1016/j.jid.2024.04.031. Epub 2024 Jun 17. J Invest Dermatol. 2025. PMID: 38897541 Free article.
GNAQ/GNA11 Mosaicism Causes Aberrant Calcium Signaling Susceptible to Targeted Therapeutics.
Zecchin D, Knöpfel N, Gluck AK, Stevenson M, Sauvadet A, Polubothu S, Barberan-Martin S, Michailidis F, Bryant D, Inoue A, Lines KE, Hannan FM, Semple RK, Thakker RV, Kinsler VA. Zecchin D, et al. J Invest Dermatol. 2024 Apr;144(4):811-819.e4. doi: 10.1016/j.jid.2023.08.028. Epub 2023 Oct 4. J Invest Dermatol. 2024. PMID: 37802293 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.
Gene discovery in extensive dermal melanocytosis reveals multiple mosaic causes.
Knöpfel N, Barberan-Martin S, Polubothu S, Sauvadet A, Bryant D, Laskar R, Izadi F, Lomas D, O'Neil C, Dyankova-Peeva D, Henderson RA, Macrae F, Cullup T, Zecchin D, Del Valle Torres I, Kinsler VA. Knöpfel N, et al. Among authors: zecchin d. Br J Dermatol. 2025 Nov 27:ljaf481. doi: 10.1093/bjd/ljaf481. Online ahead of print. Br J Dermatol. 2025. PMID: 41308076
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.
26 results