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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.
Sex bias in autism spectrum disorder in neurofibromatosis type 1.
Garg S, Heuvelman H, Huson S, Tobin H, Green J; Northern UK NF1 Research Network. Garg S, et al. J Neurodev Disord. 2016 Jul 26;8:26. doi: 10.1186/s11689-016-9159-4. eCollection 2016. J Neurodev Disord. 2016. PMID: 27516813 Free PMC article.
Randomised controlled trial of simvastatin treatment for autism in young children with neurofibromatosis type 1 (SANTA).
Stivaros S, Garg S, Tziraki M, Cai Y, Thomas O, Mellor J, Morris AA, Jim C, Szumanska-Ryt K, Parkes LM, Haroon HA, Montaldi D, Webb N, Keane J, Castellanos FX, Silva AJ, Huson S, Williams S, Gareth Evans D, Emsley R, Green J; SANTA Consortium. Stivaros S, et al. Mol Autism. 2018 Feb 22;9:12. doi: 10.1186/s13229-018-0190-z. eCollection 2018. Mol Autism. 2018. PMID: 29484149 Free PMC article. Clinical Trial.
A retrospective regional study of aqueduct stenosis and fourth ventricle outflow obstruction in the paediatric complex neurofibromatosis type 1 population; Aetiology, clinical presentation and management.
Murphy C, Vassallo G, Burkitt-Wright E, Hupton E, Eelloo J, Lewis L, Huson S, Stivaros S, Kamaly-Asl I. Murphy C, et al. Clin Neurol Neurosurg. 2020 Jun;193:105791. doi: 10.1016/j.clineuro.2020.105791. Epub 2020 Mar 19. Clin Neurol Neurosurg. 2020. PMID: 32208299
Evidence for 28 genetic disorders discovered by combining healthcare and research data.
Kaplanis J, Samocha KE, Wiel L, Zhang Z, Arvai KJ, Eberhardt RY, Gallone G, Lelieveld SH, Martin HC, McRae JF, Short PJ, Torene RI, de Boer E, Danecek P, Gardner EJ, Huang N, Lord J, Martincorena I, Pfundt R, Reijnders MRF, Yeung A, Yntema HG; Deciphering Developmental Disorders Study; Vissers LELM, Juusola J, Wright CF, Brunner HG, Firth HV, FitzPatrick DR, Barrett JC, Hurles ME, Gilissen C, Retterer K. Kaplanis J, et al. Nature. 2020 Oct;586(7831):757-762. doi: 10.1038/s41586-020-2832-5. Epub 2020 Oct 14. Nature. 2020. PMID: 33057194 Free PMC article.
Autism Spectrum Disorder Symptom Profile Across the RASopathies.
Geoffray MM, Falissard B, Green J, Kerr B, Evans DG, Huson S, Burkitt-Wright E, Garg S. Geoffray MM, et al. Front Psychiatry. 2021 Jan 15;11:585700. doi: 10.3389/fpsyt.2020.585700. eCollection 2020. Front Psychiatry. 2021. PMID: 33519543 Free PMC 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. Among authors: burkitt wright em. 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.
47 results