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1

100,000 Genomes Project Pilot Investigators; Smedley, D; Smith, KR; Martin, A; Thomas, EA; McDonagh, EM; Cipriani, V; ... Caulfield, M; + view all 100,000 Genomes Project Pilot Investigators; Smedley, D; Smith, KR; Martin, A; Thomas, EA; McDonagh, EM; Cipriani, V; Ellingford, JM; Arno, G; Tucci, A; Vandrovcova, J; Chan, G; Williams, HJ; Ratnaike, T; Wei, W; Stirrups, K; Ibanez, K; Moutsianas, L; Wielscher, M; Need, A; Barnes, MR; Vestito, L; Buchanan, J; Wordsworth, S; Ashford, S; Rehmström, K; Li, E; Fuller, G; Twiss, P; Spasic-Boskovic, O; Halsall, S; Floto, RA; Poole, K; Wagner, A; Mehta, SG; Gurnell, M; Burrows, N; James, R; Penkett, C; Dewhurst, E; Gräf, S; Mapeta, R; Kasanicki, M; Haworth, A; Savage, H; Babcock, M; Reese, MG; Bale, M; Baple, E; Boustred, C; Brittain, H; de Burca, A; Bleda, M; Devereau, A; Halai, D; Haraldsdottir, E; Hyder, Z; Kasperaviciute, D; Patch, C; Polychronopoulos, D; Matchan, A; Sultana, R; Ryten, M; Tavares, ALT; Tregidgo, C; Turnbull, C; Welland, M; Wood, S; Snow, C; Williams, E; Leigh, S; Foulger, RE; Daugherty, LC; Niblock, O; Leong, IUS; Wright, CF; Davies, J; Crichton, C; Welch, J; Woods, K; Abulhoul, L; Aurora, P; Bockenhauer, D; Broomfield, A; Cleary, MA; Lam, T; Dattani, M; Footitt, E; Ganesan, V; Grunewald, S; Compeyrot-Lacassagne, S; Muntoni, F; Pilkington, C; Quinlivan, R; Thapar, N; Wallis, C; Wedderburn, LR; Worth, A; Bueser, T; Compton, C; Deshpande, C; Fassihi, H; Haque, E; Izatt, L; Josifova, D; Mohammed, S; Robert, L; Rose, S; Ruddy, D; Sarkany, R; Say, G; Shaw, AC; Wolejko, A; Habib, B; Burns, G; Hunter, S; Grocock, RJ; Humphray, SJ; Robinson, PN; Haendel, M; Simpson, MA; Banka, S; Clayton-Smith, J; Douzgou, S; Hall, G; Thomas, HB; O'Keefe, RT; Michaelides, M; Moore, AT; Malka, S; Pontikos, N; Browning, AC; Straub, V; Gorman, GS; Horvath, R; Quinton, R; Schaefer, AM; Yu-Wai-Man, P; Turnbull, DM; McFarland, R; Taylor, RW; O'Connor, E; Yip, J; Newland, K; Morris, HR; Polke, J; Wood, NW; Campbell, C; Camps, C; Gibson, K; Koelling, N; Lester, T; Németh, AH; Palles, C; Patel, S; Roy, NBA; Sen, A; Taylor, J; Cacheiro, P; Jacobsen, JO; Seaby, EG; Davison, V; Chitty, L; Douglas, A; Naresh, K; McMullan, D; Ellard, S; Temple, IK; Mumford, AD; Wilson, G; Beales, P; Bitner-Glindzicz, M; Black, G; Bradley, JR; Brennan, P; Burn, J; Chinnery, PF; Elliott, P; Flinter, F; Houlden, H; Irving, M; Newman, W; Rahman, S; Sayer, JA; Taylor, JC; Webster, AR; Wilkie, AOM; Ouwehand, WH; Raymond, FL; Chisholm, J; Hill, S; Bentley, D; Scott, RH; Fowler, T; Rendon, A; Caulfield, M; - view fewer (2021) 100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care — Preliminary Report. New England Journal of Medicine , 385 (20) pp. 1868-1880. 10.1056/NEJMoa2035790.

A

Abani, O; Abbas, A; Abbas, F; Abbas, M; Abbasi, S; Abbass, H; Abbott, A; ... et alia, .; + view all Abani, O; Abbas, A; Abbas, F; Abbas, M; Abbasi, S; Abbass, H; Abbott, A; Abdallah, N; Abdelaziz, A; Abdelfattah, M; Abdelqader, B; Abdul, B; Abdul Rasheed, A; Abdulakeem, A; Abdul-Kadir, R; Abdulmumeen, A; Abdul-Raheem, R; Abdulshukkoor, N; Abdusamad, K; Abed El Khaleq, Y; Abedalla, M; Abeer Ul Amna, A; Abernethy, K; Aboaba, A; Abo-Leyah, H; Abou-Haggar, A; Abouibrahim, M; Abraham, M; Abraham, T; Abraheem, A; Abrams, J; Abu, HJ; Abu-Arafeh, A; Abubacker, SM; Abung, A; Aceampong, Y; Achara, A; Acharya, D; Acheampong, S; Acheson, J; Acosta, A; Acton, C; Adabie-Ankrah, J; Adam, F; Adam, M; Adamali, H; Adams, C; Adams, C; Adams, K; Adams, R; Adams, T; Adcock, K; Addai, J; Adebiyi, A; Adegoke, K; Adell, V; Adenwalla, S; Adesemoye, OA; Adewunmi, EO; Adeyemi, J; Adhikary, R; Adkins, G; Adnan, A; Aeron-Thomas, J; Affleck, D; Afnan, C; Afridi, M; Aftab, ZA; Agarwal, M; Agbeko, R; Agbo, C; Agent, P; Aggarwal, S; Aghababaie, A; Ahamed Sadiq, S; Ahammed Nazeer, MH; Ahmad, M; Ahmad, S; Ahmed, A; Ahmed, B; Ahmed, F; Ahmed, H; Ahmed, I; Ahmed, I; Ahmed, K; Ahmed, L; Ahmed, M; Ahmed, MC; Ahmed, MS; Ahmed, N; Ahmed, N; Ahmed, O; Ahmed, RA; Ahmed, R; Ahmed, S; Ahmed, S; Ahmed, S; Ahmed, S; Ahmed, SH; Ahmed Ali, R; et alia, .; - view fewer (2021) Tocilizumab in patients admitted to hospital with COVID-19 (RECOVERY): a randomised, controlled, open-label, platform trial. The Lancet , 397 (10285) pp. 1637-1645. 10.1016/S0140-6736(21)00676-0.

Abdel-Khalik, J; Hearn, T; Dickson, AL; Crick, PJ; Yutuc, E; Austin-Muttit, K; Bigger, BW; ... Wang, Y; + view all Abdel-Khalik, J; Hearn, T; Dickson, AL; Crick, PJ; Yutuc, E; Austin-Muttit, K; Bigger, BW; Morris, AA; Shackleton, CH; Clayton, PT; Iida, T; Sircar, R; Rohatgi, R; Marschall, H-U; Sjövall, J; Björkhem, I; Mullins, JGL; Griffiths, WJ; Wang, Y; - view fewer (2021) Bile Acid Biosynthesis in Smith-Lemli-Opitz Syndrome Bypassing Cholesterol: Potential Importance of Pathway Intermediates. The Journal of Steroid Biochemistry and Molecular Biology , 206 , Article 105794. 10.1016/j.jsbmb.2020.105794.

Abdelnabi, R; Foo, CS; Kaptein, SJF; Zhang, X; Do, TND; Langendries, L; Vangeel, L; ... Neyts, J; + view all Abdelnabi, R; Foo, CS; Kaptein, SJF; Zhang, X; Do, TND; Langendries, L; Vangeel, L; Breuer, J; Pang, J; Williams, R; Vergote, V; Heylen, E; Leyssen, P; Dallmeier, K; Coelmont, L; Chatterjee, AK; Mols, R; Augustijns, P; De Jonghe, S; Jochmans, D; Weynand, B; Neyts, J; - view fewer (2021) The combined treatment of Molnupiravir and Favipiravir results in a potentiation of antiviral efficacy in a SARS-CoV-2 hamster infection model. EBioMedicine , 72 , Article 103595. 10.1016/j.ebiom.2021.103595.

Abdulkadir, M; Yu, D; Osiecki, L; King, RA; Fernandez, TV; Brown, LW; Cheon, K-A; ... Hoekstra, PJ; + view all Abdulkadir, M; Yu, D; Osiecki, L; King, RA; Fernandez, TV; Brown, LW; Cheon, K-A; Coffey, BJ; Garcia-Delgar, B; Gilbert, DL; Grice, DE; Hagstrøm, J; Hedderly, T; Heyman, I; Hong, HJ; Huyser, C; Ibanez-Gomez, L; Kim, YK; Kim, Y-S; Koh, Y-J; Kook, S; Kuperman, S; Leventhal, B; Madruga-Garrido, M; Maras, A; Mir, P; Morer, A; Münchau, A; Plessen, KJ; Roessner, V; Shin, E-J; Song, D-H; Song, J; Visscher, F; Zinner, SH; Mathews, CA; Scharf, JM; Tischfield, JA; Heiman, GA; Dietrich, A; Hoekstra, PJ; - view fewer (2021) Investigation of gene-environment interactions in relation to tic severity. Journal of Neural Transmission , 128 pp. 1757-1765. 10.1007/s00702-021-02396-y.

Abdullahi, SU; Wudil, BJ; Bello-Manga, H; Musa, AB; Gambo, S; Galadanci, NA; Aminu, H; ... DeBaun, MR; + view all Abdullahi, SU; Wudil, BJ; Bello-Manga, H; Musa, AB; Gambo, S; Galadanci, NA; Aminu, H; Tijjani Gaya, A; Sanusi, S; Tabari, MA; Galadanci, A; Borodo, A; Abba, MS; Dambatta, AH; Haliru, L; Gambo, A; Cassell, H; Rodeghier, M; Ghafuri, DL; Covert Greene, BV; Neville, K; Kassim, AA; Kirkham, F; Trevathan, E; Jordan, LC; Aliyu, MH; DeBaun, MR; - view fewer (2021) Primary prevention of stroke in children with sickle cell anemia in sub-Saharan Africa: rationale and design of phase III randomized clinical trial. Pediatric Hematology and Oncology , 38 (1) pp. 49-64. 10.1080/08880018.2020.1810183.

Acquilla, S; Sibal, B; Shukla, H; Mathews, S; Rai, GK; Lakhanpaul, M; (2021) SARS-CoV-2 (COVID-19) and the lessons learned from global pandemic. Indian Journal of Public Health , 65 (3) pp. 215-217. 10.4103/ijph.ijph_1759_21.

Adams, SP; Gravett, E; Kent, N; Kricke, S; Ifederu, A; Scoto, M; Samsuddin, S; Adams, SP; Gravett, E; Kent, N; Kricke, S; Ifederu, A; Scoto, M; Samsuddin, S; Muntoni, F; - view fewer (2021) Screening of Neonatal UK Dried Blood Spots Using a Duplex SMN1 Screening Assay. International Journal of Neonatal Screening , 7 (4) , Article 69. 10.3390/ijns7040069.

Adhya, D; Swarup, V; Nagy, R; Dutan, L; Shum, C; Valencia-Alarcón, EP; Jozwik, KM; ... Baron-Cohen, S; + view all Adhya, D; Swarup, V; Nagy, R; Dutan, L; Shum, C; Valencia-Alarcón, EP; Jozwik, KM; Mendez, MA; Horder, J; Loth, E; Nowosiad, P; Lee, I; Skuse, D; Flinter, FA; Murphy, D; McAlonan, G; Geschwind, DH; Price, J; Carroll, J; Srivastava, DP; Baron-Cohen, S; - view fewer (2021) Atypical Neurogenesis in Induced Pluripotent Stem Cells From Autistic Individuals. Biological Psychiatry , 89 (5) pp. 486-496. 10.1016/j.biopsych.2020.06.014.

Afonso Ribeiro, J; Simeoni, S; De Min, L; Uchiyama, T; Tung Lo, Y; Solanky, N; Garcia-Moreno, H; ... Panicker, JN; + view all Afonso Ribeiro, J; Simeoni, S; De Min, L; Uchiyama, T; Tung Lo, Y; Solanky, N; Garcia-Moreno, H; Giunti, P; Panicker, JN; - view fewer (2021) Lower urinary tract and bowel dysfunction in spinocerebellar ataxias. Annals of Clinical and Translational Neurology , 8 (2) pp. 321-331. 10.1002/acn3.51266.

Agliardi, G; Liuzzi, AR; Hotblack, A; De Feo, D; Núñez, N; Stowe, CL; Friebel, E; ... Becher, B; + view all Agliardi, G; Liuzzi, AR; Hotblack, A; De Feo, D; Núñez, N; Stowe, CL; Friebel, E; Nannini, F; Rindlisbacher, L; Roberts, TA; Ramasawmy, R; Williams, IP; Siow, BM; Lythgoe, MF; Kalber, TL; Quezada, SA; Pule, MA; Tugues, S; Straathof, K; Becher, B; - view fewer (2021) Intratumoral IL-12 delivery empowers CAR-T cell immunotherapy in a pre-clinical model of glioblastoma. Nature Communications , 12 , Article 444. 10.1038/s41467-020-20599-x.

Aguilar, JI; Cheng, MH; Font, J; Schwartz, AC; Ledwitch, K; Duran, A; Mabry, SJ; ... Galli, A; + view all Aguilar, JI; Cheng, MH; Font, J; Schwartz, AC; Ledwitch, K; Duran, A; Mabry, SJ; Belovich, AN; Zhu, Y; Carter, AM; Shi, L; Kurian, MA; Fenollar-Ferrer, C; Meiler, J; Ryan, RM; Mchaourab, HS; Bahar, I; Matthies, HJ; Galli, A; - view fewer (2021) Psychomotor impairments and therapeutic implications revealed by a mutation associated with infantile Parkinsonism-Dystonia. eLife , 10 , Article e68039. 10.7554/eLife.68039.

Ahluwalia, TS; Prins, BP; Abdollahi, M; Armstrong, NJ; Aslibekyan, S; Bain, L; Jefferis, B; ... Alizadeh, BZ; + view all Ahluwalia, TS; Prins, BP; Abdollahi, M; Armstrong, NJ; Aslibekyan, S; Bain, L; Jefferis, B; Baumert, J; Beekman, M; Ben-Shlomo, Y; Bis, JC; Mitchell, BD; de Geus, E; Delgado, GE; Marek, D; Eriksson, J; Kajantie, E; Kanoni, S; Kemp, JP; Lu, C; Marioni, RE; McLachlan, S; Milaneschi, Y; Nolte, IM; Petrelis, AM; Porcu, E; Sabater-Lleal, M; Naderi, E; Seppälä, I; Shah, T; Singhal, G; Standl, M; Teumer, A; Thalamuthu, A; Thiering, E; Trompet, S; Ballantyne, CM; Benjamin, EJ; Casas, JP; Toben, C; Dedoussis, G; Deelen, J; Durda, P; Engmann, J; Feitosa, MF; Grallert, H; Hammarstedt, A; Harris, SE; Homuth, G; Hottenga, J; Jalkanen, S; Jamshidi, Y; Jawahar, MC; Jess, T; Kivimaki, M; Kleber, ME; Lahti, J; Liu, Y; Marques-Vidal, P; Mellström, D; Mooijaart, SP; Müller-Nurasyid, M; Penninx, B; Revez, JA; Rossing, P; Räikkönen, K; Sattar, N; Scharnagl, H; Sennblad, B; Silveira, A; Pourcain, BS; Timpson, NJ; Trollor, J; CHARGE Inflammation Working Group, .; van Dongen, J; Van Heemst, D; Visvikis-Siest, S; Vollenweider, P; Völker, U; Waldenberger, M; Willemsen, G; Zabaneh, D; Morris, RW; Arnett, DK; Baune, BT; Boomsma, DI; Chang, YC; Deary, IJ; Deloukas, P; Eriksson, JG; Evans, DM; Ferreira, MA; Gaunt, T; Gudnason, V; Hamsten, A; Heinrich, J; Hingorani, A; Humphries, SE; Jukema, JW; Koeing, W; Kumari, M; Kutalik, Z; Lawlor, DA; Lehtimäki, T; März, W; Mather, K; Naitza, S; Nauck, M; Ohlsson, C; Price, JF; Raitakari, O; Rice, K; Sachdev, PS; Slagboom, E; Sørensen, TIA; Spector, T; Stacey, D; Stathopoulou, MG; Tanaka, T; Wannamethee, SG; Whincup, P; Rotter, JI; Dehghan, A; Boerwinkle, E; Psaty, BM; Snieder, H; Alizadeh, BZ; - view fewer (2021) Genome-Wide Association Study of Circulating Interleukin 6 Levels Identifies Novel Loci. Human Molecular Genetics , 30 (5) pp. 393-409. 10.1093/hmg/ddab023.

Ahmed, SF; Achermann, JC; Alderson, J; Crouch, NS; Elford, S; Hughes, IA; Krone, NP; ... Turner, HE; + view all Ahmed, SF; Achermann, JC; Alderson, J; Crouch, NS; Elford, S; Hughes, IA; Krone, NP; McGowan, R; Mushtaq, T; O'Toole, S; Perry, L; Rodie, ME; Skae, M; Turner, HE; - view fewer (2021) Society for Endocrinology UK Guidance On The Initial Evaluation Of A Suspected Difference or Disorder Of Sex Development (DSD) (Revised 2021). Clinical Endocrinology , 95 (6) pp. 818-840. 10.1111/cen.14528.

Akbarali, S; Rahi, JS; Dick, AD; Parkash, K; Etherton, K; Edelsten, C; Liu, X; Akbarali, S; Rahi, JS; Dick, AD; Parkash, K; Etherton, K; Edelsten, C; Liu, X; Solebo, AL; - view fewer (2021) Imaging based uveitis surveillance in juvenile idiopathic arthritis: feasibility, acceptability and diagnostic performance. Arthritis & Rheumatology , 73 (2) pp. 330-335. 10.1002/art.41530.

Akintomide, E; Shah, B; Sridharan, S; Visram, S; Sebire, NJ; Peters, C; (2021) Clinical perception of effectiveness of virtual appointments and comparison with appointment outcomes at a specialist children's hospital. Future Healthcare Journal , 8 (3) e660-e665. 10.7861/fhj.2021-0044.

Alderson, P; Bowman, D; Brierley, J; J. Elliott, M; Kazmi, R; Mendizabal-Espinosa, R; Montgomery, J; ... Wellesley, H; + view all Alderson, P; Bowman, D; Brierley, J; J. Elliott, M; Kazmi, R; Mendizabal-Espinosa, R; Montgomery, J; Sutcliffe, K; Wellesley, H; - view fewer (2021) Living bioethics, clinical ethics committees and children's consent to heart surgery. Clinical Ethics 10.1177/14777509211034145. (In press).

Aldinger, KA; Thomson, Z; Phelps, IG; Haldipur, P; Deng, M; Timms, AE; Hirano, M; ... Millen, KJ; + view all Aldinger, KA; Thomson, Z; Phelps, IG; Haldipur, P; Deng, M; Timms, AE; Hirano, M; Santpere, G; Roco, C; Rosenberg, AB; Lorente-Galdos, B; Gulden, FO; O'Day, D; Overman, LM; Lisgo, SN; Alexandre, P; Sestan, N; Doherty, D; Dobyns, WB; Seelig, G; Glass, IA; Millen, KJ; - view fewer (2021) Spatial and cell type transcriptional landscape of human cerebellar development. Nature Neuroscience , 24 pp. 1163-1175. 10.1038/s41593-021-00872-y.

Allinovi, Marco; Hayes, Wesley; (2021) Simplified 8-site lung ultrasound examination to assess fluid overload in children on haemodialysis. Clinical Kidney Journal , 14 (7) pp. 1851-1852. 10.1093/ckj/sfab041.

Almossawi, O; O’Brien, S; Parslow, R; Nadel, S; Palla, L; (2021) A study of sex difference in infant mortality in UK pediatric intensive care admissions over an 11-year period. Scientific Reports , 11 (1) , Article 21838. 10.1038/s41598-021-01173-x.

Almossawi, O; Friend, A; Palla, L; Feltbower, R; De Stavola, B; (2021) Is there a sex difference in mortality rates for deaths occurring in paediatric intensive care units? Systematic literature review protocol. BMJ Open , 11 (2) , Article e046794. 10.1136/bmjopen-2020-046794.

Alrashidi, H; Eaton, S; Heales, S; (2021) Biochemical characterization of proliferative and differentiated SH-SY5Y cell line as a model for Parkinson’s disease. Neurochemistry International , 145 , Article 105009. 10.1016/j.neuint.2021.105009.

Altmann, A; Ryten, M; Di Nunzio, M; Ravizza, T; Tolomeo, D; Reynolds, RH; Somani, A; ... Sisodiya, SM; + view all Altmann, A; Ryten, M; Di Nunzio, M; Ravizza, T; Tolomeo, D; Reynolds, RH; Somani, A; Bacigaluppi, M; Iori, V; Micotti, E; Di Sapia, R; Cerovic, M; Palma, E; Ruffolo, G; Botía, JA; Absil, J; Alhusaini, S; Alvim, MKM; Auvinen, P; Bargallo, N; Bartolini, E; Bender, B; Bergo, FPG; Bernardes, T; Bernasconi, A; Bernasconi, N; Bernhardt, BC; Blackmon, K; Braga, B; Caligiuri, ME; Calvo, A; Carlson, C; Carr, SJ; Cavalleri, GL; Cendes, F; Chen, J; Chen, S; Cherubini, A; Concha, L; David, P; Delanty, N; Depondt, C; Devinsky, O; Doherty, CP; Domin, M; Focke, NK; Foley, S; Franca, W; Gambardella, A; Guerrini, R; Hamandi, K; Hibar, DP; Isaev, D; Jackson, GD; Jahanshad, N; Kalviainen, R; Keller, SS; Kochunov, P; Kotikalapudi, R; Kowalczyk, MA; Kuzniecky, R; Kwan, P; Labate, A; Langner, S; Lenge, M; Liu, M; Martin, P; Mascalchi, M; Meletti, S; Morita-Sherman, ME; O'Brien, TJ; Pariente, JC; Richardson, MP; Rodriguez-Cruces, R; Rummel, C; Saavalainen, T; Semmelroch, MK; Severino, M; Striano, P; Thesen, T; Thomas, RH; Tondelli, M; Tortora, D; Vaudano, AE; Vivash, L; von Podewils, F; Wagner, J; Weber, B; Wiest, R; Yasuda, CL; Zhang, G; Zhang, J; ENIGMA-Epilepsy Working Group, .; Leu, C; Avbersek, A; EpiPGX Consortium, .; Thom, M; Whelan, CD; Thompson, P; McDonald, CR; Vezzani, A; Sisodiya, SM; - view fewer (2021) A systems-level analysis highlights microglial activation as a modifying factor in common epilepsies. Neuropathology and Applied Neurobiology 10.1111/nan.12758. (In press).

Alves, CAPF; Löbel, U; Martin-Saavedra, JS; Toescu, S; Tsunemi, MH; Teixeira, SR; Mankad, K; ... D'Arco, F; + view all Alves, CAPF; Löbel, U; Martin-Saavedra, JS; Toescu, S; Tsunemi, MH; Teixeira, SR; Mankad, K; Hargrave, D; Jacques, TS; da Costa Leite, C; Gonçalves, FG; Vossough, A; D'Arco, F; - view fewer (2021) A Diagnostic Algorithm for Posterior Fossa Tumors in Children: A Validation Study. American Journal of Neuroradiology , 42 (5) pp. 961-968. 10.3174/ajnr.A7057.

Ambrosino, D; Han, HH; Hu, B; Liang, J; Clemens, R; Johnson, M; Siber, G; Ambrosino, D; Han, HH; Hu, B; Liang, J; Clemens, R; Johnson, M; Siber, G; Goldblatt, D; - view fewer (2021) Immunogenicity of SCB-2019 Coronavirus Disease 2019 Vaccine Compared With 4 Approved Vaccines. The Journal of Infectious Diseases , Article jiab574. 10.1093/infdis/jiab574. (In press).

Amin, S; Mallick, AA; Edwards, H; Cortina-Borja, M; Laugharne, M; Likeman, M; O'Callaghan, FJK; (2021) The metformin in tuberous sclerosis (MiTS) study: A randomised double-blind placebo-controlled trial. EClinicalMedicine , Article 100715. 10.1016/j.eclinm.2020.100715. (In press).

Amor, F; Vu Hong, A; Corre, G; Sanson, M; Suel, L; Blaie, S; Servais, L; ... Israeli, D; + view all Amor, F; Vu Hong, A; Corre, G; Sanson, M; Suel, L; Blaie, S; Servais, L; Voit, T; Richard, I; Israeli, D; - view fewer (2021) Cholesterol metabolism is a potential therapeutic target in Duchenne muscular dystrophy. Journal of Cachexia, Sarcopenia and Muscle , 12 (3) pp. 677-693. 10.1002/jcsm.12708.

Anakor, E; Le Gall, L; Dumonceaux, J; Duddy, WJ; Duguez, S; (2021) Exosomes in ageing and motor neurone disease: Biogenesis, uptake mechanisms, modifications in disease and uses in the development of biomarkers and therapeutics. Cells , 10 (11) , Article 2930. 10.3390/cells10112930.

Andersen, MS; Bandres-Ciga, S; Reynolds, RH; Hardy, J; Ryten, M; Krohn, L; Gan-Or, Z; ... Pihlstrøm, L; + view all Andersen, MS; Bandres-Ciga, S; Reynolds, RH; Hardy, J; Ryten, M; Krohn, L; Gan-Or, Z; Holtman, IR; International Parkinson's Disease Genomics Consortium, ,; Pihlstrøm, L; - view fewer (2021) Heritability enrichment implicates microglia in Parkinson's disease pathogenesis. Annals of Neurology , 89 (5) pp. 942-951. 10.1002/ana.26032.

Andina, D; Belloni-Fortina, A; Bodemer, C; Bonifazi, E; Chiriac, A; Colmenero, I; Diociaiuti, A; ... ESPD Group for the Skin Manifestations of COVID-19; + view all Andina, D; Belloni-Fortina, A; Bodemer, C; Bonifazi, E; Chiriac, A; Colmenero, I; Diociaiuti, A; El-Hachem, M; Fertitta, L; van Gysel, D; Hernández-Martín, A; Hubiche, T; Luca, C; Martos-Cabrera, L; Maruani, A; Mazzotta, F; Akkaya, AD; Casals, M; Ferrando, J; Grimalt, R; Grozdev, I; Kinsler, V; Morren, MA; Munisami, M; Nanda, A; Novoa, MP; Ott, H; Pasmans, S; Salavastru, C; Zawar, V; Torrelo, A; ESPD Group for the Skin Manifestations of COVID-19; - view fewer (2021) Skin manifestations of COVID-19 in children: Part 1. Clinical and Experimental Dermatology , 46 (3) pp. 444-450. 10.1111/ced.14481.

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Andraus, M; Thorpe, J; Tai, XY; Ashby, S; Hallab, A; Ding, D; Dugan, P; ... Sen, A; + view all Andraus, M; Thorpe, J; Tai, XY; Ashby, S; Hallab, A; Ding, D; Dugan, P; Perucca, P; Costello, D; French, JA; O'Brien, TJ; Depondt, C; Andrade, DM; Sengupta, R; Delanty, N; Jette, N; Newton, CR; Brodie, MJ; Devinsky, O; Cross, JH; Li, LM; Silvado, C; Moura, L; Cosenza, H; Messina, JP; Hanna, J; Sander, JW; Sen, A; - view fewer (2021) Impact of the COVID-19 pandemic on people with epilepsy: Findings from the Brazilian arm of the COV-E study. Epilepsy & Behavior , 123 , Article 108261. 10.1016/j.yebeh.2021.108261.

Anelone, A; Hancock, E; Klein, N; Kim, P; Spurgeon, S; (2021) Control theory helps to resolve the measles paradox. Royal Society Open Science , 8 (4) , Article 201891. 10.1098/rsos.201891.

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Arthur, F; Harwood, R; Allin, B; Bethell, GS; Boam, T; Chhabra, S; Eastwood, MP; ... Tullie, LGC; + view all Arthur, F; Harwood, R; Allin, B; Bethell, GS; Boam, T; Chhabra, S; Eastwood, MP; Ford, K; Rhodes, H; Hotonu, S; Rooney, A; Billington, J; Davidson, JR; Dewar, G; Durand, C; Engall, N; Green, P; Jobson, M; Starr, A; Tullie, LGC; - view fewer (2021) Lockdown during the COVID-19 pandemic: impact on infants with pyloric stenosis. Archives of Disease in Childhood , 106 (8) , Article e32. 10.1136/archdischild-2020-320544.

Arthurs, OJ; Oates, A; Halliday, K; (2021) Paediatric radiology: child abuse imaging in the national spotlight. Clinical Radiology , 76 (9) pp. 631-633. 10.1016/j.crad.2021.07.001.

Arulkumaran, N; Snow, TAC; Kulkarni, A; Brealey, D; Rickman, HM; Rees-Spear, C; Spyer, MJ; ... Singer, M; + view all Arulkumaran, N; Snow, TAC; Kulkarni, A; Brealey, D; Rickman, HM; Rees-Spear, C; Spyer, MJ; Heaney, J; Garr, E; Williams, B; Cherepanov, P; Kassiotis, G; Lunn, MP; Ambler, G; Houlihan, C; McCoy, LE; Nastouli, E; Singer, M; - view fewer (2021) Influence of IL-6 levels on patient survival in COVID-19. Journal of Critical Care , 66 pp. 123-125. 10.1016/j.jcrc.2021.08.013.

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Asad, H; Collins, IJ; Goodall, RL; Crichton, S; Hill, T; Doerholt, K; Foster, C; ... Collaborative HIV Paediatric Study (CHIPS) Steering Committee, t; + view all Asad, H; Collins, IJ; Goodall, RL; Crichton, S; Hill, T; Doerholt, K; Foster, C; Lyall, H; Post, FA; Welch, S; Winston, A; Sabin, CA; Judd, A; Collaborative HIV Paediatric Study (CHIPS) Steering Committee, t; - view fewer (2021) Mortality and AIDS-defining events among young people following transition from paediatric to adult HIV care in the UK. HIV Medicine 10.1111/hiv.13096. (In press).

Ayyash, Hani F; Ogundele, Michael Oladipo; Lynn, Richard M; Schumm, Tanja-Sabine; Ani, Cornelius; (2021) Involvement of community paediatricians in the care of children and young people with mental health difficulties in the UK: implications for case ascertainment by child and adolescent psychiatric, and paediatric surveillance systems. BMJ Paediatrics Open , 5 (1) , Article e000713. 10.1136/bmjpo-2020-000713.

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Bagkeris, Emmanouil; (2021) A study of frailty, falls, bone mineral density and fractures among HIV-positive and HIV-negative controls in England and Ireland, the POPPY study. Doctoral thesis (Ph.D), UCL (University College London).

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Baltas, I; Stockdale, T; Tausan, M; Kashif, A; Anwar, J; Anvar, J; Koutoumanou, E; ... Democratis, J; + view all Baltas, I; Stockdale, T; Tausan, M; Kashif, A; Anwar, J; Anvar, J; Koutoumanou, E; Sidebottom, D; Garcia-Arias, V; Wright, M; Democratis, J; - view fewer (2021) Long-term outcome and risk factors for late mortality in Gram-negative bacteraemia: a retrospective cohort study. Journal of Global Antimicrobial Resistance , 25 pp. 187-192. 10.1016/j.jgar.2021.03.019.

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Baranello, G; Gorni, K; Daigl, M; Kotzeva, A; Evans, R; Hawkins, N; Scott, DA; ... Servais, L; + view all Baranello, G; Gorni, K; Daigl, M; Kotzeva, A; Evans, R; Hawkins, N; Scott, DA; Mahajan, A; Muntoni, F; Servais, L; - view fewer (2021) Prognostic factors and treatment-effect modifiers in spinal muscular atrophy. Clinical Pharmacology and Therapeutics 10.1002/cpt.2247. (In press).

Baranello, G; Darras, BT; Day, JW; Deconinck, N; Klein, A; Masson, R; Mercuri, E; ... FIREFISH Working Group; + view all Baranello, G; Darras, BT; Day, JW; Deconinck, N; Klein, A; Masson, R; Mercuri, E; Rose, K; El-Khairi, M; Gerber, M; Gorni, K; Khwaja, O; Kletzl, H; Scalco, RS; Seabrook, T; Fontoura, P; Servais, L; FIREFISH Working Group; - view fewer (2021) Risdiplam in Type 1 Spinal Muscular Atrophy. New England Journal of Medicine , 384 (10) pp. 915-923. 10.1056/NEJMoa2009965.

Barile, A; Mills, P; di Salvo, ML; Graziani, C; Bunik, V; Clayton, P; Contestabile, R; Barile, A; Mills, P; di Salvo, ML; Graziani, C; Bunik, V; Clayton, P; Contestabile, R; Tramonti, A; - view fewer (2021) Characterization of Novel Pathogenic Variants Causing Pyridox(am)ine 5 '-Phosphate Oxidase-Dependent Epilepsy. International Journal of Molecular Sciences , 22 (21) , Article 12013. 10.3390/ijms222112013.

Barisa, M; Fowler, D; Fisher, J; (2021) Interplay between γδT-Cell Metabolism and Tumour Microenvironment Offers Opportunities for Therapeutic Intervention. Immunometabolism , 3 (3) , Article e210026. 10.20900/immunometab20210026.

Barker, R; Hartwell, G; Bonell, C; Egan, M; Lock, K; Viner, RM; (2021) Research priorities for mental health in schools in the wake of COVID-19. Journal of Epidemiology and Community Health (JECH) 10.1136/jech-2021-217902. (In press).

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Baugh, JN; Gielen, GH; Van Vuurden, DG; Veldhuijzen Van Zanten, SEM; Hargrave, D; Massimino, M; Biassoni, V; ... Kramm, CM; + view all Baugh, JN; Gielen, GH; Van Vuurden, DG; Veldhuijzen Van Zanten, SEM; Hargrave, D; Massimino, M; Biassoni, V; Morales La Madrid, A; Karremann, M; Wiese, M; Thomale, U; Janssens, GO; Von Bueren, AO; Perwein, T; Hoving, EW; Pietsch, T; Andreiuolo, F; Kramm, CM; - view fewer (2021) Transitioning to molecular diagnostics in pediatric high-grade glioma: Experiences with the 2016 WHO classification of CNS tumors. Neuro-Oncology Advances , 3 (1) , Article vdab113. 10.1093/noajnl/vdab113.

Beale, S; Braithwaite, I; Navaratnam, AM; Hardelid, P; Rodger, A; Aryee, A; Byrne, TE; ... Virus Watch Collaborative; + view all Beale, S; Braithwaite, I; Navaratnam, AM; Hardelid, P; Rodger, A; Aryee, A; Byrne, TE; Fong, EWL; Fragaszy, E; Geismar, C; Kovar, J; Nguyen, V; Patel, P; Shrotri, M; Aldridge, R; Hayward, A; Virus Watch Collaborative; - view fewer (2021) Deprivation and exposure to public activities during the COVID-19 pandemic in England and Wales. Journal of Epidemiology & Community Health 10.1136/jech-2021-217076. (In press).

Beale, S; Byrne, T; Fragaszy, E; Kovar, J; Nguyen, V; Aryee, A; Fong, WLE; ... Hayward, AC; + view all Beale, S; Byrne, T; Fragaszy, E; Kovar, J; Nguyen, V; Aryee, A; Fong, WLE; Geismar, C; Patel, P; Shrotri, M; Patni, N; Braithwaite, I; Navaratnam, A; Johnson, AM; Aldridge, RW; Hayward, AC; - view fewer (2021) Reported exposure to SARS-CoV-2 and relative perceived importance of different settings for SARS-CoV-2 acquisition in England and Wales: Analysis of the Virus Watch Community Cohort [version 1; peer review: awaiting peer review]. Wellcome Open Research , 6 , Article 242. 10.12688/wellcomeopenres.17067.1.

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Bebbington, P; Coid, J; Zhang, Y; Ullrich, S; De Stavola, B; Bhui, K; Tsai, A; (2021) A syndemic of psychiatric morbidity, substance misuse, violence, and poor physical health among young Scottish men with reduced life expectancy. SSM - Population Health , 15 , Article 100858. 10.1016/j.ssmph.2021.100858.

Bedford, H; Firman, N; Waller, J; Marlow, L; Forster, A; Dezateux, C; (2021) Which young women are not being vaccinated against HPV? Cross-sectional analysis of a UK national cohort study. Vaccine , 39 (40) pp. 5934-5939. 10.1016/j.vaccine.2021.07.094.

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Biasco, L; Izotova, N; Rivat, C; Ghorashian, S; Richardson, R; Guvenel, A; Hough, R; ... Amrolia, PJ; + view all Biasco, L; Izotova, N; Rivat, C; Ghorashian, S; Richardson, R; Guvenel, A; Hough, R; Wynn, R; Popova, B; Lopes, A; Pule, M; Thrasher, AJ; Amrolia, PJ; - view fewer (2021) Clonal expansion of T memory stem cells determines early anti-leukemic responses and long-term CAR T cell persistence in patients. Nature Cancer , 2 pp. 629-64. 10.1038/s43018-021-00207-7.

Biassoni, L; Privitera, L; (2021) ¹²³I-meta-iodobenzylguanidine single-photon emission computerized tomography/computerized tomography scintigraphy in the management of neuroblastoma. Indian Journal of Nuclear Medicine , 36 (3) pp. 293-299. 10.4103/ijnm.ijnm_10_21.

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Birley, Kathleen; (2021) Development of novel B7-H3 targeted CAR therapy for neuroblastoma. Doctoral thesis (Ph.D), UCL (University College London).

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Blackburn, E; D’arco, F; Devito, A; Ioppolo, R; Lorio, S; Quirk, B; Ganesan, V; (2021) Predictors of motor outcome after childhood arterial ischemic stroke. Developmental Medicine & Child Neurology 10.1111/dmcn.14914. (In press).

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Blake, HA; Sharples, LD; Harron, K; van der Meulen, JH; Walker, K; (2021) Probabilistic linkage without personal information successfully linked national clinical datasets: Linkage of national clinical datasets without patient identifiers using probabilistic methods. Journal of Clinical Epidemiology 10.1016/j.jclinepi.2021.04.015. (In press).

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Buckley, E; Pellicano, E; Remington, A; (2021) "Knowing That I'm Not Necessarily Alone in My Struggles": UK Autistic Performing Arts Professionals' Experiences of a Mentoring Programme. Journal of Autism and Developmental Disorders 10.1007/s10803-021-05394-x. (In press).

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Campinoti, Sara; (2021) Investigating human pancreas development in a dish. Doctoral thesis (Ph.D), UCL (University College London).

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Catanzano, Matteo; (2021) Increasing access to evidence-based mental health treatments for paediatric hospital patients: development and evaluation of a mental health drop-in centre. Doctoral thesis (Ph.D), UCL (University College London).

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Cathie, Katrina; Sutcliffe, Alastair G; Bandi, Srini; Coghlan, David; Turner, Stephen W; Powell, Colin; (2021) Priorities for child health research across the UK and Ireland. Archives of Disease in Childhood 10.1136/archdischild-2021-322636. (In press).

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Chang, WH; Katsoulis, M; Tan, YY; Mueller, SH; Green, K; Lai, AG; (2021) Late effects of cancer in children, teenagers and young adults: Population-based study on the burden of 183 conditions, in-patient and critical care admissions and years of life lost. The Lancet Regional Health - Europe , Article 100248. 10.1016/j.lanepe.2021.100248. (In press).

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Chari, A; (2021) The UK experience of stereoelectroencephalography in children: An analysis of factors predicting the identification of a seizure-onset zone and subsequent seizure freedom. Epilepsia 10.1111/epi.16954. (In press).

Chari, A; Mallucci, C; Whitelaw, A; Aquilina, K; (2021) Intraventricular haemorrhage and posthaemorrhagic ventricular dilatation: moving beyond CSF diversion. Child's Nervous System 10.1007/s00381-021-05206-8. (In press).

Chartier, M-E; Deheragoda, M; Gattens, M; Dhawan, A; Heaton, N; Booth, C; Hadzic, N; (2021) Successful Auxiliary Liver Transplant Followed by Hematopoietic Stem Cell Transplantation in X-Linked Lymphoproliferative Disease Type 1. Liver Transplantation , 27 (3) pp. 450-455. 10.1002/lt.25898.

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Cheung, Michelle Yu-Qing; (2021) Investigating the role of Setd5 in cardiac development. Doctoral thesis (Ph.D), UCL (University College London).

Cheung, MY-Q; Roberts, C; Scambler, P; Stathopoulou, A; (2021) Setd5 is required in cardiopharyngeal mesoderm for heart development and its haploinsufficiency is associated with outflow tract defects in mouse. Genesis , Article e23421. 10.1002/dvg.23421.

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Chimhini, G; Olaru, ID; Fitzgerald, F; Chisenga, M; Ferreyra, C; Malou, N; Piton, J; ... Kranzer, K; + view all Chimhini, G; Olaru, ID; Fitzgerald, F; Chisenga, M; Ferreyra, C; Malou, N; Piton, J; Chimhuya, S; Yeung, S; De, S; Mujuru, HA; Kranzer, K; - view fewer (2021) Evaluation of a Novel Culture System for Rapid Pathogen Identification and Detection of Cephalosporin Resistance in Neonatal Gram-negative Sepsis at a Tertiary Referral Unit in Harare, Zimbabwe. The Pediatric Infectious Disease Journal , 40 (9) pp. 785-791. 10.1097/INF.0000000000003155.

Ching, C; Bennett, S; Heyman, I; Liang, H; Catanzano, M; Fifield, K; Berger, Z; ... Shafran, R; + view all Ching, C; Bennett, S; Heyman, I; Liang, H; Catanzano, M; Fifield, K; Berger, Z; Gray, S; Hewson, E; Bryon, M; Coughtrey, A; Shafran, R; - view fewer (2021) A survey of mental health professionals in a paediatric hospital during COVID-19. Clinical Child Psychology and Psychiatry 10.1177/13591045211033186. (In press).

Chowdhury, Bipasha; (2021) How do factors known to cause preterm premature rupture of the membranes affect the ultrastructure and integrity of the amnion? Doctoral thesis (M.D(Res)), UCL (University College London).

Christiansen, C; Castillo-Fernandez, JE; Domingo-Relloso, A; Zhao, W; El-Sayed Moustafa, JS; Tsai, P-C; Maddock, J; ... Bell, JT; + view all Christiansen, C; Castillo-Fernandez, JE; Domingo-Relloso, A; Zhao, W; El-Sayed Moustafa, JS; Tsai, P-C; Maddock, J; Haack, K; Cole, SA; Kardia, SLR; Molokhia, M; Suderman, M; Power, C; Relton, C; Wong, A; Kuh, D; Goodman, A; Small, KS; Smith, JA; Tellez-Plaza, M; Navas-Acien, A; Ploubidis, GB; Hardy, R; Bell, JT; - view fewer (2021) Novel DNA methylation signatures of tobacco smoking with trans-ethnic effects. Clinical Epigenetics , 13 , Article 36. 10.1186/s13148-021-01018-4.

Chua, SYL; Khawaja, AP; Desai, P; Rahi, JS; Day, AC; Hammond, CJ; Khaw, PT; Chua, SYL; Khawaja, AP; Desai, P; Rahi, JS; Day, AC; Hammond, CJ; Khaw, PT; Foster, PJ; - view fewer (2021) The Association of Ambient Air Pollution With Cataract Surgery in UK Biobank Participants: Prospective Cohort Study. Investigative Ophthalmology & Visual Science , 62 (15) , Article 7. 10.1167/iovs.62.15.7.

Clarke, V; Goddard, A; Wellings, K; Hirve, R; Casanovas, M; Bewley, S; Viner, R; ... Khadr, S; + view all Clarke, V; Goddard, A; Wellings, K; Hirve, R; Casanovas, M; Bewley, S; Viner, R; Kramer, T; Khadr, S; - view fewer (2021) Medium-term health and social outcomes in adolescents following sexual assault: a prospective mixed-methods cohort study. Social Psychiatry and Psychiatric Epidemiology 10.1007/s00127-021-02127-4. (In press).

Clarke, CS; Vindrola-Padros, C; Levermore, C; Ramsay, AIG; Black, GB; Pritchard-Jones, K; Hines, J; ... Hunter, RM; + view all Clarke, CS; Vindrola-Padros, C; Levermore, C; Ramsay, AIG; Black, GB; Pritchard-Jones, K; Hines, J; Smith, G; Bex, A; Mughal, M; Shackley, D; Melnychuk, M; Morris, S; Fulop, NJ; Hunter, RM; - view fewer (2021) How to Cost the Implementation of Major System Change for Economic Evaluations: Case Study Using Reconfigurations of Specialist Cancer Surgery in Part of London, England. Applied Health Economics and Health Policy 10.1007/s40258-021-00660-6. (In press).

Clarke, E; Bashorun, A; Adigweme, I; Badjie Hydara, M; Umesi, A; Futa, A; Ochoge, M; ... Lamola, S; + view all Clarke, E; Bashorun, A; Adigweme, I; Badjie Hydara, M; Umesi, A; Futa, A; Ochoge, M; Obayemi, D; Edem, B; Saidy-Jah, E; Onwuchekwa, C; Dhere, R; Sethna, V; Kampmann, B; Goldblatt, D; Taylor, D; Andi-Lolo, I; Hosken, N; Antony, K; Innis, BL; Alderson, MR; Lamola, S; - view fewer (2021) Immunogenicity and safety of a novel ten-valent pneumococcal conjugate vaccine in healthy infants in The Gambia: a phase 3, randomised, double-blind, non-inferiority trial. The Lancet Infectious Diseases 10.1016/S1473-3099(20)30735-0. (In press).

Clarke, J; Bendall, A; Douglas, E; Buckman, L; Cross, J; Ellum, S; Gardiner, L; ... Shannon, H; + view all Clarke, J; Bendall, A; Douglas, E; Buckman, L; Cross, J; Ellum, S; Gardiner, L; Hashmi-Greenwood, M; Stiger, R; Shannon, H; - view fewer (2021) ACPRC statement and considerations for the teaching of airway clearance techniques in higher education institutions during the COVID-19 pandemic. Journal of the Association for Chartered Physiotherapists in Respiratory Care (ACPRC) , 53 (1) pp. 66-77.

Clayton, LM; Balestrini, S; Cross, JH; Wilson, G; Eldred, C; Evans, H; Koepp, MJ; Clayton, LM; Balestrini, S; Cross, JH; Wilson, G; Eldred, C; Evans, H; Koepp, MJ; Sisodiya, SM; - view fewer (2021) The impact of SARS-CoV-2 vaccination in Dravet Syndrome: A UK survey. Epilepsy & Behavior , 124 , Article 108258. 10.1016/j.yebeh.2021.108258.

Clements, MN; Russell, N; Bielicki, JA; Ellis, S; Gastine, S; Hsia, Y; Standing, JF; ... Sharland, M; + view all Clements, MN; Russell, N; Bielicki, JA; Ellis, S; Gastine, S; Hsia, Y; Standing, JF; Walker, AS; Sharland, M; - view fewer (2021) Global antibiotic dosing strategies in hospitalised children: Characterising variation and implications for harmonisation of international guidelines. PLoS One , 16 (5) , Article e0252223. 10.1371/journal.pone.0252223.

Clesham, Katherine; (2021) Targeting c-MYB in Acute Myeloid Leukaemia. Doctoral thesis (Ph.D), UCL (University College London).

Clisu, DA; Layther, I; Dover, D; Viner, RM; Read, T; Cheesman, D; Hodges, S; Clisu, DA; Layther, I; Dover, D; Viner, RM; Read, T; Cheesman, D; Hodges, S; Hudson, LD; - view fewer (2021) Alternatives to mental health admissions for children and adolescents experiencing mental health crises: A systematic review of the literature. Clinical Child Psychology and Psychiatry 10.1177/13591045211044743. (In press).

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