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Identification of LAMA1 mutations ends diagnostic odyssey and has prognostic implications for patients with presumed Joubert syndrome.
Powell L, Olinger E, Wedderburn S, Ramakumaran VS, Kini U, Clayton-Smith J, Ramsden SC, Rice SJ, Barroso-Gil M, Wilson I, Cowley L, Johnson S, Harris E, Montgomery T, Bertoli M; Genomics England Research Consortium; Boltshauser E, Sayer JA. Powell L, et al. Among authors: cowley l. Brain Commun. 2021 Jul 16;3(3):fcab163. doi: 10.1093/braincomms/fcab163. eCollection 2021. Brain Commun. 2021. PMID: 34423300 Free PMC article.
Return of individual research results from genomic research: A systematic review of stakeholder perspectives.
Vears DF, Minion JT, Roberts SJ, Cummings J, Machirori M, Blell M, Budin-Ljøsne I, Cowley L, Dyke SOM, Gaff C, Green R, Hall A, Johns AL, Knoppers BM, Mulrine S, Patch C, Winkler E, Murtagh MJ. Vears DF, et al. Among authors: cowley l. PLoS One. 2021 Nov 8;16(11):e0258646. doi: 10.1371/journal.pone.0258646. eCollection 2021. PLoS One. 2021. PMID: 34748551 Free PMC article.
Better governance, better access: practising responsible data sharing in the METADAC governance infrastructure.
Murtagh MJ, Blell MT, Butters OW, Cowley L, Dove ES, Goodman A, Griggs RL, Hall A, Hallowell N, Kumari M, Mangino M, Maughan B, Mills MC, Minion JT, Murphy T, Prior G, Suderman M, Ring SM, Rogers NT, Roberts SJ, Van der Straeten C, Viney W, Wiltshire D, Wong A, Walker N, Burton PR. Murtagh MJ, et al. Among authors: cowley l. Hum Genomics. 2018 Apr 26;12(1):24. doi: 10.1186/s40246-018-0154-6. Hum Genomics. 2018. PMID: 29695297 Free PMC article.
Consensus building on definitions and types of child maltreatment to improve recording and surveillance in Europe: protocol for a multi-sectoral, European, electronic Delphi study.
Nurmatov U, Cowley LE, Rodrigues LB, Naughton A, Debelle G, Alfandari R, Lamela D, Otterman G, Jud A, Ntinapogias A, Laajasalo T, Soldino V, Stancheva V, Caenazzo L, Vaughan R, Christian CW, Drabarek K, Kemp AM, Hurt L; COST Action CA19106 Team. Nurmatov U, et al. Among authors: cowley le. BMJ Open. 2023 Dec 12;13(12):e076517. doi: 10.1136/bmjopen-2023-076517. BMJ Open. 2023. PMID: 38086601 Free PMC article.
114 results