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The 8th International RASopathies Symposium: Expanding research and care practice through global collaboration and advocacy.
Pierpont EI, Bennett AM, Schoyer L, Stronach B, Anschutz A, Borrie SC, Briggs B, Burkitt-Wright E, Castel P, Cirstea IC, Draaisma F, Ellis M, Fear VS, Frone MN, Flex E, Gelb BD, Green T, Gripp KW, Khoshkhoo S, Kieran MW, Kleemann K, Klein-Tasman BP, Kontaridis MI, Kruszka P, Leoni C, Liu CZ, Merchant N, Magoulas PL, Moertel C, Prada CE, Rauen KA, Roelofs R, Rossignol R, Sevilla C, Sevilla G, Sheedy R, Stieglitz E, Sun D, Tiemens D, White F, Wingbermühle E, Wolf C, Zenker M, Andelfinger G. Pierpont EI, et al. Among authors: burkitt wright e. Am J Med Genet A. 2024 Apr;194(4):e63477. doi: 10.1002/ajmg.a.63477. Epub 2023 Nov 15. Am J Med Genet A. 2024. PMID: 37969032
Recent developments in neurofibromatoses and RASopathies: management, diagnosis and current and future therapeutic avenues.
Rauen KA, Huson SM, Burkitt-Wright E, Evans DG, Farschtschi S, Ferner RE, Gutmann DH, Hanemann CO, Kerr B, Legius E, Parada LF, Patton M, Peltonen J, Ratner N, Riccardi VM, van der Vaart T, Vikkula M, Viskochil DH, Zenker M, Upadhyaya M. Rauen KA, et al. Am J Med Genet A. 2015 Jan;167A(1):1-10. doi: 10.1002/ajmg.a.36793. Epub 2014 Nov 12. Am J Med Genet A. 2015. PMID: 25393061 Free PMC article.
The Fourth International Symposium on Genetic Disorders of the Ras/MAPK pathway.
Stevenson DA, Schill L, Schoyer L, Andresen BS, Bakker A, Bayrak-Toydemir P, Burkitt-Wright E, Chatfield K, Elefteriou F, Elgersma Y, Fisher MJ, Franz D, Gelb BD, Goriely A, Gripp KW, Hardan AY, Keppler-Noreuil KM, Kerr B, Korf B, Leoni C, McCormick F, Plotkin SR, Rauen KA, Reilly K, Roberts A, Sandler A, Siegel D, Walsh K, Widemann BC. Stevenson DA, et al. Am J Med Genet A. 2016 Aug;170(8):1959-66. doi: 10.1002/ajmg.a.37723. Epub 2016 May 7. Am J Med Genet A. 2016. PMID: 27155140 Free PMC article.
The sixth international RASopathies symposium: Precision medicine-From promise to practice.
Gripp KW, Schill L, Schoyer L, Stronach B, Bennett AM, Blaser S, Brown A, Burdine R, Burkitt-Wright E, Castel P, Darilek S, Dias A, Dyer T, Ellis M, Erickson G, Gelb BD, Green T, Gross A, Ho A, Holder JL Jr, Inoue SI, Jelin AC, Kennedy A, Klein R, Kontaridis MI, Magoulas P, McConnell DB, McCormick F, Neel BG, Prada CE, Rauen KA, Roberts A, Rodriguez-Viciana P, Rosen N, Rumbaugh G, Sablina A, Solman M, Tartaglia M, Thomas A, Timmer WC, Venkatachalam K, Walsh KS, Wolters PL, Yi JS, Zenker M, Ratner N. Gripp KW, et al. Am J Med Genet A. 2020 Mar;182(3):597-606. doi: 10.1002/ajmg.a.61434. Epub 2019 Dec 11. Am J Med Genet A. 2020. PMID: 31825160 Free PMC article.
European Medical Education Initiative on Noonan syndrome: A clinical practice survey assessing the diagnosis and clinical management of individuals with Noonan syndrome across Europe.
García-Miñaúr S, Burkitt-Wright E, Verloes A, Shaikh G, Lebl J, Östman-Smith I, Wolf CM, Ortega Castelló E, Tartaglia M, Zenker M, Edouard T. García-Miñaúr S, et al. Eur J Med Genet. 2022 Jan;65(1):104371. doi: 10.1016/j.ejmg.2021.104371. Epub 2021 Oct 29. Eur J Med Genet. 2022. PMID: 34757053 Free article.
Management of growth failure and other endocrine aspects in patients with Noonan syndrome across Europe: A sub-analysis of a European clinical practice survey.
Edouard T, Zenker M, Östman-Smith I, Ortega Castelló E, Wolf CM, Burkitt-Wright E, Verloes A, García-Miñaúr S, Tartaglia M, Shaikh G, Lebl J. Edouard T, et al. Eur J Med Genet. 2022 Jan;65(1):104404. doi: 10.1016/j.ejmg.2021.104404. Epub 2021 Dec 9. Eur J Med Genet. 2022. PMID: 34896604 Free article.
Personalised virtual gene panels reduce interpretation workload and maintain diagnostic rates of proband-only clinical exome sequencing for rare disorders.
Molina-Ramírez LP, Kyle C, Ellingford JM, Wright R, Taylor A, Bhaskar SS, Campbell C, Jackson H, Fairclough A, Rousseau A, Burghel GJ, Dutton L, Banka S, Briggs TA, Clayton-Smith J, Douzgou S, Jones EA, Kingston HM, Kerr B, Ealing J, Somarathi S, Chandler KE, Stuart HM, Burkitt-Wright EM, Newman WG, Bruce IA, Black GC, Gokhale D. Molina-Ramírez LP, et al. J Med Genet. 2022 Apr;59(4):393-398. doi: 10.1136/jmedgenet-2020-107303. Epub 2021 Apr 20. J Med Genet. 2022. PMID: 33879512 Free PMC article.
50 results