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Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases.
Pagnamenta AT, Camps C, Giacopuzzi E, Taylor JM, Hashim M, Calpena E, Kaisaki PJ, Hashimoto A, Yu J, Sanders E, Schwessinger R, Hughes JR, Lunter G, Dreau H, Ferla M, Lange L, Kesim Y, Ragoussis V, Vavoulis DV, Allroggen H, Ansorge O, Babbs C, Banka S, Baños-Piñero B, Beeson D, Ben-Ami T, Bennett DL, Bento C, Blair E, Brasch-Andersen C, Bull KR, Cario H, Cilliers D, Conti V, Davies EG, Dhalla F, Dacal BD, Dong Y, Dunford JE, Guerrini R, Harris AL, Hartley J, Hollander G, Javaid K, Kane M, Kelly D, Kelly D, Knight SJL, Kreins AY, Kvikstad EM, Langman CB, Lester T, Lines KE, Lord SR, Lu X, Mansour S, Manzur A, Maroofian R, Marsden B, Mason J, McGowan SJ, Mei D, Mlcochova H, Murakami Y, Németh AH, Okoli S, Ormondroyd E, Ousager LB, Palace J, Patel SY, Pentony MM, Pugh C, Rad A, Ramesh A, Riva SG, Roberts I, Roy N, Salminen O, Schilling KD, Scott C, Sen A, Smith C, Stevenson M, Thakker RV, Twigg SRF, Uhlig HH, van Wijk R, Vona B, Wall S, Wang J, Watkins H, Zak J, Schuh AH, Kini U, Wilkie AOM, Popitsch N, Taylor JC. Pagnamenta AT, et al. Among authors: ramesh a. Genome Med. 2023 Nov 9;15(1):94. doi: 10.1186/s13073-023-01240-0. Genome Med. 2023. PMID: 37946251 Free PMC article.
Clinical features which predict neuronal surface autoantibodies in new-onset focal epilepsy: implications for immunotherapies.
McGinty RN, Handel A, Moloney T, Ramesh A, Fower A, Torzillo E, Kramer H, Howell S, Waters P, Adcock J, Sen A, Lang B, Irani SR. McGinty RN, et al. Among authors: ramesh a. J Neurol Neurosurg Psychiatry. 2021 Mar;92(3):291-294. doi: 10.1136/jnnp-2020-325011. Epub 2020 Nov 20. J Neurol Neurosurg Psychiatry. 2021. PMID: 33219046 Free PMC article.
Practical Consensus Guidelines for the Use of S-1 in GI Malignancies.
Parikh PM, Sahoo TP, Biswas G, Talwar V, Sp S, Panda SS, Cb A, Shetty N, Ramesh A, Ghosh J, Shetty VV, Naik R, Singh A, Gupta G, Parekh B. Parikh PM, et al. Among authors: ramesh a. South Asian J Cancer. 2024 Feb 5;13(1):77-82. doi: 10.1055/s-0043-1778685. eCollection 2024 Jan. South Asian J Cancer. 2024. PMID: 38721104 Free PMC article.
825 results