Delivery of a national prenatal exome sequencing service in England: a mixed methods study exploring healthcare professionals’ views and experiences

Autor: Michelle Peter, Rhiannon Mellis, Hannah McInnes-Dean, Morgan Daniel, Holly Walton, Jane Fisher, Kerry Leeson-Beevers, Stephanie Allen, Emma L. Baple, Ana Beleza-Meireles, Marta Bertoli, Jennifer Campbell, Natalie Canham, Deirdre Cilliers, Jan Cobben, Jacqueline Eason, Victoria Harrison, Muriel Holder-Espinasse, Alison Male, Sahar Mansour, Alec McEwan, Soo-Mi Park, Audrey Smith, Alison Stewart, Dagmar Tapon, Pradeep Vasudevan, Denise Williams, Wing Han Wu, Lyn S. Chitty, Melissa Hill

Publikováno v: Frontiers in Genetics, Vol 15 (2024)

IntroductionIn October 2020, rapid prenatal exome sequencing (pES) was introduced into routine National Health Service (NHS) care in England, requiring the coordination of care from specialist genetics, fetal medicine (FM) and laboratory services. Th

Externí odkaz: https://doaj.org/article/6dc8f4f638a84583ae1fa43934c939d4

Development and Testing of a Roleplaying Gamification Module to Enhance Deeper Learning of Case Studies in an Accelerated Online Management Theory Course

Autor: Audrey Smith Pereira, Monika Wahi

Publikováno v: Online Learning, Vol 25, Iss 3 (2021)

Research has established that “cognitive rehearsal,” (CR) or the visualization of application of a behavioral response to a situation, can increase self-efficacy through vicarious experience, but is challenging to induce online. Online higher edu

Externí odkaz: https://doaj.org/article/49d684fbbd7d420096ecea9f2c5b784e

Climate change, degradation, and land acquisitions: evaluating inequalities among competing interests for suitable cropland in Ethiopia

Autor: Carly Muir, Audrey Smith, Arun Agrawal

Publikováno v: Ecology and Society. 28

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::7e45e02df2a9e5ab67cedaf9b5800bd9
https://doi.org/10.5751/es-13934-280146

Homozygous intronic variants in TPM2 cause recessively inherited Escobar variant of multiple pterygium syndrome and congenital myopathy

Autor: Anna Sarkozy, Azzam Ismail, Rahul Phadke, R. Mein, Anne-Marie Childs, Emma Hobson, Karen Pysden, Schaida Schirwani, Francesco Muntoni, Audrey Smith

Publikováno v: Neuromuscular Disorders. 31:359-366

Pathogenic variants in TPM2 have been associated with a variable clinical spectrum, including congenital myopathies and distal arthrogryposis, all but one with dominant inheritance. We report the second case of recessively inherited TPM2-related Esco

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7c9d58e5628042c386a67e728e0dabae
https://doi.org/10.1016/j.nmd.2020.09.033

The diagnostic utility of clinical exome sequencing in 60 patients with hearing loss disorders:A single-institution experience

Autor: Leslie P Molina-Ramírez, Sofia Douzgou, Kay Metcalfe, Kate Chandler, Claire Kyle, John H McDermott, Tracy A Briggs, Haroon Saeed, D A Gokhale, Jill Clayton-Smith, Ronnie Wright, Claire Forde, Emma Burkitt-Wright, Audrey Smith, Siddharth Banka, Graeme C.M. Black, Algy Taylor, Iain A. Bruce, Sanjeev S. Bhaskar, Laura Dutton, Christopher Campbell, William G. Newman

Publikováno v: Molina-Ramírez, L P, Burkitt-Wright, E M, Saeed, H, McDermott, J H, Kyle, C, Wright, R, Campbell, C, Bhaskar, S S, Taylor, A, Dutton, L, Forde, C, Metcalfe, K, Smith, A, Clayton-Smith, J, Douzgou, S, Chandler, K, Briggs, T A, Banka, S, Newman, W G, Gokhale, D, Bruce, I A & Black, G C 2021, ' The diagnostic utility of clinical exome sequencing in 60 patients with hearing loss disorders : A single-institution experience ', Clinical otolaryngology : official journal of ENT-UK ; official journal of Netherlands Society for Oto-Rhino-Laryngology & Cervico-Facial Surgery, vol. 46, no. 6, pp. 1257-1262 . https://doi.org/10.1111/coa.13826

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0144cec164424f974b59aa2bf8ba5463
https://doi.org/10.1111/coa.13826