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Page 1
Mosaic RAS/MAPK variants cause sporadic vascular malformations which respond to targeted therapy.
Al-Olabi L, Polubothu S, Dowsett K, Andrews KA, Stadnik P, Joseph AP, Knox R, Pittman A, Clark G, Baird W, Bulstrode N, Glover M, Gordon K, Hargrave D, Huson SM, Jacques TS, James G, Kondolf H, Kangesu L, Keppler-Noreuil KM, Khan A, Lindhurst MJ, Lipson M, Mansour S, O'Hara J, Mahon C, Mosica A, Moss C, Murthy A, Ong J, Parker VE, Rivière JB, Sapp JC, Sebire NJ, Shah R, Sivakumar B, Thomas A, Virasami A, Waelchli R, Zeng Z, Biesecker LG, Barnacle A, Topf M, Semple RK, Patton EE, Kinsler VA. Al-Olabi L, et al. Among authors: stadnik p. J Clin Invest. 2018 Apr 2;128(4):1496-1508. doi: 10.1172/JCI98589. Epub 2018 Mar 12. J Clin Invest. 2018. PMID: 29461977 Free PMC article.
Mosaic RAS/MAPK variants cause sporadic vascular malformations which respond to targeted therapy.
Al-Olabi L, Polubothu S, Dowsett K, Andrews KA, Stadnik P, Joseph AP, Knox R, Pittman A, Clark G, Baird W, Bulstrode N, Glover M, Gordon K, Hargrave D, Huson SM, Jacques TS, James G, Kondolf H, Kangesu L, Keppler-Noreuil KM, Khan A, Lindhurst MJ, Lipson M, Mansour S, O'Hara J, Mahon C, Mosica A, Moss C, Murthy A, Ong J, Parker VE, Rivière JB, Sapp JC, Sebire NJ, Shah R, Sivakumar B, Thomas A, Virasami A, Waelchli R, Zeng Z, Biesecker LG, Barnacle A, Topf M, Semple RK, Patton EE, Kinsler VA. Al-Olabi L, et al. Among authors: stadnik p. J Clin Invest. 2018 Nov 1;128(11):5185. doi: 10.1172/JCI124649. Epub 2018 Nov 1. J Clin Invest. 2018. PMID: 30382944 Free PMC article. No abstract available.
Does the gene matter? Genotype-phenotype and genotype-outcome associations in congenital melanocytic naevi.
Polubothu S, McGuire N, Al-Olabi L, Baird W, Bulstrode N, Chalker J, Josifova D, Lomas D, O'Hara J, Ong J, Rampling D, Stadnik P, Thomas A, Wedgeworth E, Sebire NJ, Kinsler VA. Polubothu S, et al. Among authors: stadnik p. Br J Dermatol. 2020 Feb;182(2):434-443. doi: 10.1111/bjd.18106. Epub 2019 Aug 9. Br J Dermatol. 2020. PMID: 31111470 Free PMC article.
Molecular Genetic Dissection of Inflammatory Linear Verrucous Epidermal Naevus Leads to Successful Targeted Therapy.
Riachi M, Polubothu S, Stadnik P, Hughes C, Martin SB, Charman CR, Cheng IL, Gholam K, Ogunbiyi O, Paige DG, Sebire NJ, Pittman A, Di WL, Kinsler VA. Riachi M, et al. Among authors: stadnik p. J Invest Dermatol. 2021 Dec;141(12):2979-2983.e1. doi: 10.1016/j.jid.2021.02.765. Epub 2021 Jun 8. J Invest Dermatol. 2021. PMID: 34116062 Free PMC article. No abstract available.
Inherited duplications of PPP2R3B predispose to nevi and melanoma via a C21orf91-driven proliferative phenotype.
Polubothu S, Zecchin D, Al-Olabi L, Lionarons DA, Harland M, Horswell S, Thomas AC, Hunt L, Wlodarchak N, Aguilera P, Brand S, Bryant D, Carrera C, Chen H, Elgar G, Harwood CA, Howell M, Larue L, Loughlin S, MacDonald J, Malvehy J, Barberan SM, da Silva VM, Molina M, Morrogh D, Moulding D, Nsengimana J, Pittman A, Puig-Butillé JA, Parmar K, Sebire NJ, Scherer S, Stadnik P, Stanier P, Tell G, Waelchli R, Zarrei M, Puig S, Bataille V, Xing Y, Healy E, Moore GE, Di WL, Newton-Bishop J, Downward J, Kinsler VA. Polubothu S, et al. Among authors: stadnik p. Genet Med. 2021 Sep;23(9):1636-1647. doi: 10.1038/s41436-021-01204-y. Epub 2021 Jun 18. Genet Med. 2021. PMID: 34145395 Free PMC article.
Low Blood-As Levels and Selected Genotypes Appears to Be Promising Biomarkers for Occurrence of Colorectal Cancer in Women.
Baszuk P, Stadnik P, Marciniak W, Derkacz R, Jakubowska A, Cybulski C, Huzarski T, Gronwald J, Dębniak T, Białkowska K, Pietrzak S, Kładny J, Scott RJ, Lubiński J, Lener MR. Baszuk P, et al. Among authors: stadnik p. Biomedicines. 2021 Aug 28;9(9):1105. doi: 10.3390/biomedicines9091105. Biomedicines. 2021. PMID: 34572288 Free PMC article.
RF-Induced Unintended Stimulation for Implantable Medical Devices in MRI.
Brown JE, Qiang R, Stadnik PJ, Stotts LJ, Von Arx JA. Brown JE, et al. Among authors: stadnik pj. 2020 Aug 6. In: Makarov SN, Noetscher GM, Nummenmaa A, editors. Brain and Human Body Modeling 2020: Computational Human Models Presented at EMBC 2019 and the BRAIN Initiative® 2019 Meeting [Internet]. Cham (CH): Springer; 2021. 2020 Aug 6. In: Makarov SN, Noetscher GM, Nummenmaa A, editors. Brain and Human Body Modeling 2020: Computational Human Models Presented at EMBC 2019 and the BRAIN Initiative® 2019 Meeting [Internet]. Cham (CH): Springer; 2021. PMID: 32966021 Free Books & Documents. Review.
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