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1.

Missense variants in the N-terminal domain of the A isoform of FHF2/FGF13 cause an X-linked developmental and epileptic encephalopathy.

Fry, Andrew E; Marra, Christopher; Derrick, Anna V; Pickrell, William O; Higgins, Adam T; Te Water Naude, Johann; McClatchey, Martin A; Davies, Sally J; Metcalfe, Kay A; Tan, Hui Jeen; Mohanraj, Rajiv; Avula, Shivaram; Williams, Denise; Brady, Lauren I; Mesterman, Ronit; Tarnopolsky, Mark A; Zhang, Yuehua; Yang, Ying; Wang, Xiaodong; Rees, Mark I; Goldfarb, Mitchell; Chung, Seo-Kyung.

Am J Hum Genet; 108(1): 176-185, 2021 01 07.

Artículo en Inglés | MEDLINE | ID: mdl-33245860

2.

Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders.

Faundes, Víctor; Newman, William G; Bernardini, Laura; Canham, Natalie; Clayton-Smith, Jill; Dallapiccola, Bruno; Davies, Sally J; Demos, Michelle K; Goldman, Amy; Gill, Harinder; Horton, Rachel; Kerr, Bronwyn; Kumar, Dhavendra; Lehman, Anna; McKee, Shane; Morton, Jenny; Parker, Michael J; Rankin, Julia; Robertson, Lisa; Temple, I Karen; Banka, Siddharth.

Am J Hum Genet; 102(1): 175-187, 2018 01 04.

Artículo en Inglés | MEDLINE | ID: mdl-29276005

3.

Antimicrobial Resistance: Is Health Technology Assessment Part of the Solution or Part of the Problem?

Colson, Abigail R; Morton, Alec; Årdal, Christine; Chalkidou, Kalipso; Davies, Sally C; Garrison, Louis P; Jit, Mark; Laxminarayan, Ramanan; Megiddo, Itamar; Morel, Chantal; Nonvignon, Justice; Outterson, Kevin; Rex, John H; Sarker, Abdur Razzaque; Sculpher, Mark; Woods, Beth; Xiao, Yue.

Value Health; 24(12): 1828-1834, 2021 12.

Artículo en Inglés | MEDLINE | ID: mdl-34838281

4.

Further delineation of Malan syndrome.

Priolo, Manuela; Schanze, Denny; Tatton-Brown, Katrin; Mulder, Paul A; Tenorio, Jair; Kooblall, Kreepa; Acero, Inés Hernández; Alkuraya, Fowzan S; Arias, Pedro; Bernardini, Laura; Bijlsma, Emilia K; Cole, Trevor; Coubes, Christine; Dapia, Irene; Davies, Sally; Di Donato, Nataliya; Elcioglu, Nursel H; Fahrner, Jill A; Foster, Alison; González, Noelia García; Huber, Ilka; Iascone, Maria; Kaiser, Ann-Sophie; Kamath, Arveen; Liebelt, Jan; Lynch, Sally Ann; Maas, Saskia M; Mammì, Corrado; Mathijssen, Inge B; McKee, Shane; Menke, Leonie A; Mirzaa, Ghayda M; Montgomery, Tara; Neubauer, Dorothee; Neumann, Thomas E; Pintomalli, Letizia; Pisanti, Maria Antonietta; Plomp, Astrid S; Price, Sue; Salter, Claire; Santos-Simarro, Fernando; Sarda, Pierre; Segovia, Mabel; Shaw-Smith, Charles; Smithson, Sarah; Suri, Mohnish; Valdez, Rita Maria; Van Haeringen, Arie; Van Hagen, Johanna M; Zollino, Marcela.

Hum Mutat; 39(9): 1226-1237, 2018 09.

Artículo en Inglés | MEDLINE | ID: mdl-29897170

5.

Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6.

Ratbi, Ilham; Falkenberg, Kim D; Sommen, Manou; Al-Sheqaih, Nada; Guaoua, Soukaina; Vandeweyer, Geert; Urquhart, Jill E; Chandler, Kate E; Williams, Simon G; Roberts, Neil A; El Alloussi, Mustapha; Black, Graeme C; Ferdinandusse, Sacha; Ramdi, Hind; Heimler, Audrey; Fryer, Alan; Lynch, Sally-Ann; Cooper, Nicola; Ong, Kai Ren; Smith, Claire E L; Inglehearn, Christopher F; Mighell, Alan J; Elcock, Claire; Poulter, James A; Tischkowitz, Marc; Davies, Sally J; Sefiani, Abdelaziz; Mironov, Aleksandr A; Newman, William G; Waterham, Hans R; Van Camp, Guy.

Am J Hum Genet; 97(4): 535-45, 2015 Oct 01.

Artículo en Inglés | MEDLINE | ID: mdl-26387595

6.

Effective post-pandemic governance must focus on shared challenges.

Williamson, Anne; Forman, Rebecca; Azzopardi-Muscat, Natasha; Battista, Robert; Colombo, Francesca; Glassman, Amanda; Marimont, Josep Figueras; Javorcik, Beata; O'Neill, Jim; McGuire, Alistair; McKee, Martin; Monti, Mario; O'Donnell, Gus; Wenham, Clare; Yates, Robert; Davies, Sally; Mossialos, Elias.

Lancet; 399(10340): 1999-2001, 2022 05 28.

Artículo en Inglés | MEDLINE | ID: mdl-35588759

7.

Reducing inappropriate prescribing of antibiotics in English primary care: evidence and outlook.

Davies, Sally C.

J Antimicrob Chemother; 73(4): 833-834, 2018 04 01.

Artículo en Inglés | MEDLINE | ID: mdl-29490040

8.

Knowledge and pre-thoracic spinal thrust manipulation examination: a survey of current practice in the UK.

Heneghan, Nicola R; Davies, Sally E; Puentedura, Emilio J; Rushton, Alison.

J Man Manip Ther; 26(5): 301-309, 2018 Dec.

Artículo en Inglés | MEDLINE | ID: mdl-30455557

9.

Leveraging data and new digital tools to prepare for the next pandemic.

Davies, Sally C; Audi, Hala; Cuddihy, Mitch.

Lancet; 397(10282): 1349-1350, 2021 04 10.

Artículo en Inglés | MEDLINE | ID: mdl-33812472

10.

The Health Index for England.

Pearson-Stuttard, Jonathan; Davies, Sally C.

Lancet; 397(10275): 665, 2021 02 20.

Artículo en Inglés | MEDLINE | ID: mdl-33610204

11.

Access to effective antimicrobials: a worldwide challenge.

Laxminarayan, Ramanan; Matsoso, Precious; Pant, Suraj; Brower, Charles; Røttingen, John-Arne; Klugman, Keith; Davies, Sally.

Lancet; 387(10014): 168-75, 2016 Jan 09.

Artículo en Inglés | MEDLINE | ID: mdl-26603918

12.

Provision of social norm feedback to high prescribers of antibiotics in general practice: a pragmatic national randomised controlled trial.

Hallsworth, Michael; Chadborn, Tim; Sallis, Anna; Sanders, Michael; Berry, Daniel; Greaves, Felix; Clements, Lara; Davies, Sally C.

Lancet; 387(10029): 1743-52, 2016 Apr 23.

Artículo en Inglés | MEDLINE | ID: mdl-26898856

13.

Wellcome Trust: Report released on antibiotic resistance.

Farrar, Jeremy; Davies, Sally.

Nature; 537(7619): 167, 2016 09 08.

Artículo en Inglés | MEDLINE | ID: mdl-27604937

14.

De Novo Truncating Mutations in the Kinetochore-Microtubules Attachment Gene CHAMP1 Cause Syndromic Intellectual Disability.

Isidor, Bertrand; Küry, Sébastien; Rosenfeld, Jill A; Besnard, Thomas; Schmitt, Sébastien; Joss, Shelagh; Davies, Sally J; Lebel, Robert Roger; Henderson, Alex; Schaaf, Christian P; Streff, Haley E; Yang, Yaping; Jain, Vani; Chida, Nodoka; Latypova, Xenia; Le Caignec, Cédric; Cogné, Benjamin; Mercier, Sandra; Vincent, Marie; Colin, Estelle; Bonneau, Dominique; Denommé, Anne-Sophie; Parent, Philippe; Gilbert-Dussardier, Brigitte; Odent, Sylvie; Toutain, Annick; Piton, Amélie; Dina, Christian; Donnart, Audrey; Lindenbaum, Pierre; Charpentier, Eric; Redon, Richard; Iemura, Kenji; Ikeda, Masanori; Tanaka, Kozo; Bézieau, Stéphane.

Hum Mutat; 37(4): 354-8, 2016 Apr.

Artículo en Inglés | MEDLINE | ID: mdl-26751395

15.

Confronting antimicrobial resistance beyond the COVID-19 pandemic and the 2020 US election.

Strathdee, Steffanie A; Davies, Sally C; Marcelin, Jasmine R.

Lancet; 396(10257): 1050-1053, 2020 10 10.

Artículo en Inglés | MEDLINE | ID: mdl-33007218

16.

Pathogenic copy number variants and SCN1A mutations in patients with intellectual disability and childhood-onset epilepsy.

Fry, Andrew E; Rees, Elliott; Thompson, Rose; Mantripragada, Kiran; Blake, Penny; Jones, Glyn; Morgan, Sian; Jose, Sian; Mugalaasi, Hood; Archer, Hayley; McCann, Emma; Clarke, Angus; Taylor, Clare; Davies, Sally; Gibbon, Frances; Te Water Naude, Johann; Hartley, Louise; Thomas, Gareth; White, Catharine; Natarajan, Jaya; Thomas, Rhys H; Drew, Cheney; Chung, Seo-Kyung; Rees, Mark I; Holmans, Peter; Owen, Michael J; Kirov, George; Pilz, Daniela T; Kerr, Michael P.

BMC Med Genet; 17(1): 34, 2016 04 26.

Artículo en Inglés | MEDLINE | ID: mdl-27113213

17.

A sea change for sick doctors - how do doctors fare after presenting to a specialist psychotherapy service?

Davies, Sally R; Meerton, Maja; Rost, Felicitas; Garelick, Antony I.

J Ment Health; 25(3): 238-44, 2016 Jun.

Artículo en Inglés | MEDLINE | ID: mdl-27150466

18.

Global partnerships and the Chief Medical Officer's 2019 annual report.

Falconer, Catherine; Murphy, Orla; Masey, Marc; Davies, Sally C.

Lancet; 394(10196): 369-370, 2019 Aug 03.

Artículo en Inglés | MEDLINE | ID: mdl-31340888

19.

A new Health Index for England: the Chief Medical Officer's 2018 annual report.

Pearson-Stuttard, Jonathan; Murphy, Orla; Davies, Sally C.

Lancet; 393(10166): 10-11, 2019 01 05.

Artículo en Inglés | MEDLINE | ID: mdl-30581037

20.

For debate: a new wave in public health improvement.

Davies, Sally C; Winpenny, Eleanor; Ball, Sarah; Fowler, Tom; Rubin, Jennifer; Nolte, Ellen.

Lancet; 384(9957): 1889-1895, 2014 Nov 22.

Artículo en Inglés | MEDLINE | ID: mdl-24703631

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