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Page 1
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: ansorge o. Genome Med. 2023 Nov 9;15(1):94. doi: 10.1186/s13073-023-01240-0. Genome Med. 2023. PMID: 37946251 Free PMC article.
Copy number architectures define treatment-mediated selection of lethal prostate cancer clones.
Hasan AMM, Cremaschi P, Wetterskog D, Jayaram A, Wong SQ, Williams S, Pasam A, Trigos A, Trujillo B, Grist E, Friedrich S, Vainauskas O, Parry M, Ismail M, Devlies W, Wingate A, Linch M, Naceur-Lombardelli C; PEACE consortium; Swanton C, Jamal-Hanjani M, Lise S, Sandhu S, Attard G. Hasan AMM, et al. Nat Commun. 2023 Aug 10;14(1):4823. doi: 10.1038/s41467-023-40315-9. Nat Commun. 2023. PMID: 37563129 Free PMC article.
Development and Microscopic Anatomy of the Pituitary Gland.
Scott IS, Chattopadhyay A, Ansorge O. Scott IS, et al. Among authors: ansorge o. 2024 Sep 28. In: Feingold KR, Anawalt B, Blackman MR, Boyce A, Chrousos G, Corpas E, de Herder WW, Dhatariya K, Dungan K, Hofland J, Kalra S, Kaltsas G, Kapoor N, Koch C, Kopp P, Korbonits M, Kovacs CS, Kuohung W, Laferrère B, Levy M, McGee EA, McLachlan R, New M, Purnell J, Sahay R, Shah AS, Singer F, Sperling MA, Stratakis CA, Trence DL, Wilson DP, editors. Endotext [Internet]. South Dartmouth (MA): MDText.com, Inc.; 2000–. 2024 Sep 28. In: Feingold KR, Anawalt B, Blackman MR, Boyce A, Chrousos G, Corpas E, de Herder WW, Dhatariya K, Dungan K, Hofland J, Kalra S, Kaltsas G, Kapoor N, Koch C, Kopp P, Korbonits M, Kovacs CS, Kuohung W, Laferrère B, Levy M, McGee EA, McLachlan R, New M, Purnell J, Sahay R, Shah AS, Singer F, Sperling MA, Stratakis CA, Trence DL, Wilson DP, editors. Endotext [Internet]. South Dartmouth (MA): MDText.com, Inc.; 2000–. PMID: 28402619 Free Books & Documents. Review.
Evaluation of Cerebrospinal Fluid α-Synuclein Seed Amplification Assay in Progressive Supranuclear Palsy and Corticobasal Syndrome.
Vaughan DP, Fumi R, Theilmann Jensen M, Hodgson M, Georgiades T, Wu L, Lux D, Obrocki R, Lamoureux J, Ansorge O, Allinson KSJ, Warner TT, Jaunmuktane Z, Misbahuddin A, Leigh PN, Ghosh BCP, Bhatia KP, Church A, Kobylecki C, Hu MTM, Rowe JB, Blauwendraat C, Morris HR, Jabbari E. Vaughan DP, et al. Among authors: ansorge o. Mov Disord. 2024 Dec;39(12):2285-2291. doi: 10.1002/mds.30019. Epub 2024 Sep 20. Mov Disord. 2024. PMID: 39301998 Free PMC article.
The solute carrier SLC7A1 may act as a protein transporter at the blood-brain barrier.
Kurtyka M, Wessely F, Bau S, Ifie E, He L, de Wit NM, Pedersen ABV, Keller M, Webber C, de Vries HE, Ansorge O, Betsholtz C, De Bock M, Chaves C, Brodin B, Nielsen MS, Neuhaus W, Bell RD, Letoha T, Meyer AH, Leparc G, Lenter M, Lesuisse D, Cader ZM, Buckley ST, Loryan I, Pietrzik CU. Kurtyka M, et al. Among authors: ansorge o. Eur J Cell Biol. 2024 Jun;103(2):151406. doi: 10.1016/j.ejcb.2024.151406. Epub 2024 Mar 21. Eur J Cell Biol. 2024. PMID: 38547677 Free article.
Evaluation of cerebrospinal fluid alpha-synuclein seed amplification assay in PSP and CBS.
Vaughan DP, Fumi R, Theilmann Jensen M, Georgiades T, Wu L, Lux D, Obrocki R, Lamoureux J, Ansorge O, Allinson K, Warner TT, Jaunmuktane Z, Misbahuddin A, Leigh PN, Ghosh B, Bhatia KP, Church A, Kobylecki C, Hu M, Rowe JB, Blauwendraat C, Morris HR, Jabbari E. Vaughan DP, et al. Among authors: ansorge o. medRxiv [Preprint]. 2024 Feb 29:2024.02.28.24303478. doi: 10.1101/2024.02.28.24303478. medRxiv. 2024. Update in: Mov Disord. 2024 Dec;39(12):2285-2291. doi: 10.1002/mds.30019 PMID: 38529496 Free PMC article. Updated. Preprint.
A single nuclear transcriptomic characterisation of mechanisms responsible for impaired angiogenesis and blood-brain barrier function in Alzheimer's disease.
Tsartsalis S, Sleven H, Fancy N, Wessely F, Smith AM, Willumsen N, Cheung TKD, Rokicki MJ, Chau V, Ifie E, Khozoie C, Ansorge O, Yang X, Jenkyns MH, Davey K, McGarry A, Muirhead RCJ, Debette S, Jackson JS, Montagne A, Owen DR, Miners JS, Love S, Webber C, Cader MZ, Matthews PM. Tsartsalis S, et al. Among authors: ansorge o. Nat Commun. 2024 Mar 12;15(1):2243. doi: 10.1038/s41467-024-46630-z. Nat Commun. 2024. PMID: 38472200 Free PMC article.
Betz cells of the primary motor cortex.
Nolan M, Scott C, Hof PR, Ansorge O. Nolan M, et al. Among authors: ansorge o. J Comp Neurol. 2024 Jan;532(1):e25567. doi: 10.1002/cne.25567. J Comp Neurol. 2024. PMID: 38289193 Free PMC article. Review.
161 results