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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: stevenson m. Genome Med. 2023 Nov 9;15(1):94. doi: 10.1186/s13073-023-01240-0. Genome Med. 2023. PMID: 37946251 Free PMC article.
Animal models of pituitary neoplasia.
Lines KE, Stevenson M, Thakker RV. Lines KE, et al. Among authors: stevenson m. Mol Cell Endocrinol. 2016 Feb 5;421:68-81. doi: 10.1016/j.mce.2015.08.024. Epub 2015 Aug 28. Mol Cell Endocrinol. 2016. PMID: 26320859 Free PMC article. Review.
Multiple Endocrine Neoplasia Type 1 (MEN1) 5'UTR Deletion, in MEN1 Family, Decreases Menin Expression.
Kooblall KG, Boon H, Cranston T, Stevenson M, Pagnamenta AT, Rogers A, Grozinsky-Glasberg S, Richardson T, Flanagan DE; Genomics England Research Consortium; Taylor JC, Lines KE, Thakker RV. Kooblall KG, et al. Among authors: stevenson m. J Bone Miner Res. 2021 Jan;36(1):100-109. doi: 10.1002/jbmr.4156. Epub 2020 Sep 15. J Bone Miner Res. 2021. PMID: 32780883 Free article.
PTH Infusion for Seizures in Autosomal Dominant Hypocalcemia Type 1.
Sastre A, Valentino K, Hannan FM, Lines KE, Gluck AK, Stevenson M, Ryalls M, Gorrigan RJ, Pullen D, Buck J, Sankaranarayanan S, Allgrove J, Thakker RV, Gevers EF. Sastre A, et al. Among authors: stevenson m. N Engl J Med. 2021 Jul 8;385(2):189-191. doi: 10.1056/NEJMc2034981. N Engl J Med. 2021. PMID: 34233101 Free PMC article. No abstract available.
1,936 results