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Number of items: 137.

Article

Abarrategi, A; Gambera, S; Alfranca, A; Rodriguez-Milla, MA; Perez-Tavarez, R; Rouault-Pierre, K; Waclawiczek, A; ... García-Castro, J; + view all Abarrategi, A; Gambera, S; Alfranca, A; Rodriguez-Milla, MA; Perez-Tavarez, R; Rouault-Pierre, K; Waclawiczek, A; Chakravarty, P; Mulero, F; Trigueros, C; Navarro, S; Bonnet, D; García-Castro, J; - view fewer (2018) c-Fos induces chondrogenic tumor formation in immortalized human mesenchymal progenitor cells. Scientific Reports , 8 , Article 15615. 10.1038/s41598-018-33689-0.

Abarrategi, A; Mian, SA; Passaro, D; Rouault-Pierre, K; Grey, W; Bonnet, D; (2018) Modeling the human bone marrow niche in mice: From host bone marrow engraftment to bioengineering approaches. Journal of Experimental Medicine , 215 (3) pp. 729-743. 10.1084/jem.20172139.

Aguti, S; Malerba, A; Zhou, H; (2018) The progress of AAV-mediated gene therapy in neuromuscular disorders. Expert Opinion on Biological Therapy , 18 (6) pp. 681-693. 10.1080/14712598.2018.1479739.

Al-Olabi, L; Polubothu, S; Dowsett, K; Andrews, KA; Stadnik, P; Joseph, AP; Knox, R; ... Kinsler, VA; + view all Al-Olabi, L; Polubothu, S; Dowsett, K; Andrews, KA; Stadnik, P; Joseph, AP; Knox, R; Pittman, A; Clark, G; Baird, W; Bulstrode, N; Glover, M; Gordon, K; Hargrave, D; Huson, SM; Jacques, TS; James, G; Kondolf, H; Kangesu, L; Keppler-Noreuil, KM; Khan, A; Lindhurst, MJ; Lipson, M; Mansour, S; O'Hara, J; Mahon, C; Mosica, A; Moss, C; Murthy, A; Ong, J; Parker, VE; Rivière, J-B; Sapp, JC; Sebire, NJ; Shah, R; Sivakumar, B; Thomas, A; Virasami, A; Waelchli, R; Zeng, Z; Biesecker, LG; Barnacle, A; Topf, M; Semple, RK; Patton, EE; Kinsler, VA; - view fewer (2018) Mosaic RAS/MAPK variants cause sporadic vascular malformations which respond to targeted therapy. The Journal of Clinical Investigation , 128 (4) pp. 1496-1508. 10.1172/JCI98589.

Anttila, V; Bulik-Sullivan, B; Finucane, HK; Walters, RK; Bras, J; Duncan, L; Escott-Price, V; ... Neale, BM; + view all Anttila, V; Bulik-Sullivan, B; Finucane, HK; Walters, RK; Bras, J; Duncan, L; Escott-Price, V; Falcone, GJ; Gormley, P; Malik, R; Patsopoulos, NA; Ripke, S; Wei, Z; Yu, D; Lee, PH; Turley, P; Grenier-Boley, B; Chouraki, V; Kamatani, Y; Berr, C; Letenneur, L; Hannequin, D; Amouyel, P; Boland, A; Deleuze, J-F; Duron, E; Vardarajan, BN; Reitz, C; Goate, AM; Huentelman, MJ; Kamboh, MI; Larson, EB; Rogaeva, E; St George-Hyslop, P; Hakonarson, H; Kukull, WA; Farrer, LA; Barnes, LL; Beach, TG; Demirci, FY; Head, E; Hulette, CM; Jicha, GA; Kauwe, JSK; Kaye, JA; Leverenz, JB; Levey, AI; Lieberman, AP; Pankratz, VS; Poon, WW; Quinn, JF; Saykin, AJ; Schneider, LS; Smith, AG; Sonnen, JA; Stern, RA; Van Deerlin, VM; Van Eldik, LJ; Harold, D; Russo, G; Rubinsztein, DC; Bayer, A; Tsolaki, M; Proitsi, P; Fox, NC; Hampel, H; Owen, MJ; Mead, S; Passmore, P; Morgan, K; Noethen, MM; Rossor, M; Lupton, MK; Hoffmann, P; Kornhuber, J; Lawlor, B; McQuillin, A; Al-Chalabi, A; Bis, JC; Ruiz, A; Boada, M; Seshadri, S; Beiser, A; Rice, K; van der Lee, SJ; De Jager, PL; Geschwind, DH; Riemenschneider, M; Riedel-Heller, S; Rotter, JI; Ransmayr, G; Hyman, BT; Cruchaga, C; Alegret, M; Winsvold, B; Palta, P; Farh, K-H; Cuenca-Leon, E; Furlotte, N; Kurth, T; Ligthart, L; Terwindt, GM; Freilinger, T; Ran, C; Gordon, SD; Borck, G; Adams, HHH; Lehtimaki, T; Wedenoja, J; Buring, JE; Schuerks, M; Hrafnsdottir, M; Hottenga, J-J; Penninx, B; Artto, V; Kaunisto, M; Vepsalainen, S; Martin, NG; Montgomery, GW; Kurki, MI; Hamalainen, E; Huang, H; Huang, J; Sandor, C; Webber, C; Muller-Myhsok, B; Schreiber, S; Salomaa, V; Loehrer, E; Goebel, H; Macaya, A; Pozo-Rosich, P; Hansen, T; Werge, T; Kaprio, J; Metspalu, A; Kubisch, C; Ferrari, MD; Belin, AC; van den Maagdenberg, AMJM; Zwart, J-A; Boomsma, D; Eriksson, N; Olesen, J; Chasman, DI; Nyholt, DR; Avbersek, A; Baum, L; Berkovic, S; Bradfield, J; Buono, R; Catarino, CB; Cossette, P; De Jonghe, P; Depondt, C; Dlugos, D; Ferraro, TN; French, J; Hjalgrim, H; Jamnadas-Khoda, J; Kalviainen, R; Kunz, WS; Lerche, H; Leu, C; Lindhout, D; Lo, W; Lowenstein, D; McCormack, M; Moller, RS; Molloy, A; Ng, P-W; Oliver, K; Privitera, M; Radtke, R; Ruppert, A-K; Sander, T; Schachter, S; Schankin, C; Scheffer, I; Schoch, S; Sisodiya, SM; Smith, P; Sperling, M; Striano, P; Surges, R; Thomas, GN; Visscher, F; Whelan, CD; Zara, F; Heinzen, EL; Marson, A; Becker, F; Stroink, H; Zimprich, F; Gasser, T; Gibbs, R; Heutink, P; Martinez, M; Morris, HR; Sharma, M; Ryten, M; Mok, KY; Pulit, S; Bevan, S; Holliday, E; Attia, J; Battey, T; Boncoraglio, G; Thijs, V; Chen, W-M; Mitchell, B; Rothwell, P; Sharma, P; Sudlow, C; Vicente, A; Markus, H; Kourkoulis, C; Pera, J; Raffeld, M; Silliman, S; Perica, VB; Thornton, LM; Huckins, LM; Rayner, NW; Lewis, CM; Gratacos, M; Rybakowski, F; Keski-Rahkonen, A; Raevuori, A; Hudson, JI; Reichborn-Kjennerud, T; Monteleone, P; Karwautz, A; Mannik, K; Baker, JH; O'Toole, JK; Trace, SE; Davis, OSP; Helder, SG; Ehrlich, S; Herpertz-Dahlmann, B; Danner, UN; van Elburg, AA; Clementi, M; Forzan, M; Docampo, E; Lissowska, J; Hauser, J; Tortorella, A; Maj, M; Gonidakis, F; Tziouvas, K; Papezova, H; Yilmaz, Z; Wagner, G; Cohen-Woods, S; Herms, S; Julia, A; Rabionet, R; Dick, DM; Ripatti, S; Andreassen, OA; Espeseth, T; Lundervold, AJ; Steen, VM; Pinto, D; Scherer, SW; Aschauer, H; Schosser, A; Alfredsson, L; Padyukov, L; Halmi, KA; Mitchell, J; Strober, M; Bergen, AW; Kaye, W; Szatkiewicz, JP; Cormand, B; Antoni Ramos-Quiroga, J; Sanchez-Mora, C; Ribases, M; Casas, M; Hervas, A; Jesus Arranz, M; Haavik, J; Zayats, T; Johansson, S; Williams, N; Dempfle, A; Rothenberger, A; Kuntsi, J; Oades, RD; Banaschewski, T; Franke, B; Buitelaar, JK; Arias Vasquez, A; Doyle, AE; Reif, A; Lesch, K-P; Freitag, C; Rivero, O; Palmason, H; Romanos, M; Langley, K; Rietschel, M; Witt, SH; Dalsgaard, S; Borglum, AD; Waldman, I; Wilmot, B; Molly, N; Bau, CHD; Crosbie, J; Schachar, R; K., S; McGough, JJ; Grevet, EH; Medland, SE; Robinson, E; Weiss, LA; Bacchelli, E; Bailey, A; Bal, V; Battaglia, A; Betancur, C; Bolton, P; Cantor, R; Celestino-Soper, P; Dawson, G; De Rubeis, S; Duque, F; Green, A; Klauck, SM; Leboyer, M; Levitt, P; Maestrini, E; Mane, S; Moreno-De-Luca, D; Parr, J; Regan, R; Reichenberg, A; Sandin, S; Vorstman, J; Wassink, T; Wijsman, E; Cook, E; Santangelo, S; Delorme, R; Roge, B; Magalhaes, T; Arking, D; Schulze, TG; Thompson, RC; Strohmaier, J; Matthews, K; Melle, I; Morris, D; Blackwood, D; McIntosh, A; Bergen, SE; Schalling, M; Jamain, S; Maaser, A; Fischer, SB; Reinbold, CS; Fullerton, JM; Guzman-Parra, J; Mayoral, F; Schofield, PR; Cichon, S; Muhleisen, TW; Degenhardt, F; Schumacher, J; Bauer, M; Mitchell, PB; Gershon, ES; Rice, J; Potash, JB; Zandi, PP; Craddock, N; Ferrier, IN; Alda, M; Rouleau, GA; Turecki, G; Ophoff, R; Pato, C; Anjorin, A; Stahl, E; Leber, M; Czerski, PM; Cruceanu, C; Jones, IR; Posthuma, D; Andlauer, TFM; Forstner, AJ; Streit, F; Baune, BT; Air, T; Sinnamon, G; Wray, NR; MacIntyre, DJ; Porteous, D; Homuth, G; Rivera, M; Grove, J; Middeldorp, CM; Hickie, I; Pergadia, M; Mehta, D; Smit, JH; Jansen, R; de Geus, E; Dunn, E; Li, QS; Nauck, M; Schoevers, RA; Beekman, ATF; Knowles, JA; Viktorin, A; Arnold, P; Barr, CL; Bedoya-Berrio, G; Bienvenu, OJ; Brentani, H; Burton, C; Camarena, B; Cappi, C; Cath, D; Cavallini, M; Cusi, D; Darrow, S; Denys, D; Derks, EM; Dietrich, A; Fernandez, T; Figee, M; Freimer, N; Gerber, G; Grados, M; Greenberg, E; Hanna, GL; Hartmann, A; Hirschtritt, ME; Hoekstra, PJ; Huang, A; Huyser, C; Illmann, C; Jenike, M; Kuperman, S; Leventhal, B; Lochner, C; Lyon, GJ; Macciardi, F; Madruga-Garrido, M; Malaty, IA; Maras, A; McGrath, L; Miguel, EC; Mir, P; Nestadt, G; Nicolini, H; Okun, MS; Pakstis, A; Paschou, P; Piacentini, J; Pittenger, C; Plessen, K; Ramensky, V; Ramos, EM; Reus, V; Richter, MA; Riddle, MA; Robertson, MM; Roessner, V; Rosario, M; Samuels, JF; Sandor, P; Stein, DJ; Tsetsos, F; Van Nieuwerburgh, F; Weatherall, S; Wendland, JR; Wolanczyk, T; Worbe, Y; Zai, G; Goes, FS; McLaughlin, N; Nestadt, PS; Grabe, H-J; Depienne, C; Konkashbaev, A; Lanzagorta, N; Valencia-Duarte, A; Bramon, E; Buccola, N; Cahn, W; Cairns, M; Chong, SA; Cohen, D; Crespo-Facorro, B; Crowley, J; Davidson, M; DeLisi, L; Dinan, T; Donohoe, G; Drapeau, E; Duan, J; Haan, L; Hougaard, D; Karachanak-Yankova, S; Khrunin, A; Klovins, J; Kucinskas, V; Keong, JLC; Limborska, S; Loughland, C; Lonnqvist, J; Maher, B; Mattheisen, M; McDonald, C; Murphy, KC; Nenadic, I; van Os, J; Pantelis, C; Pato, M; Petryshen, T; Quested, D; Roussos, P; Sanders, AR; Schall, U; Schwab, SG; Sim, K; So, H-C; Stoegmann, E; Subramaniam, M; Toncheva, D; Waddington, J; Walters, J; Weiser, M; Cheng, W; Cloninger, R; Curtis, D; Gejman, PV; Henskens, F; Mattingsdal, M; Oh, S-Y; Scott, R; Webb, B; Breen, G; Churchhouse, C; Bulik, CM; Daly, M; Dichgans, M; Faraone, SV; Guerreiro, R; Holmans, P; Kendler, KS; Koeleman, B; Mathews, CA; Price, A; Scharf, J; Sklar, P; Williams, J; Wood, NW; Cotsapas, C; Palotie, A; Smoller, JW; Sullivan, P; Rosand, J; Corvin, A; Neale, BM; - view fewer (2018) Analysis of shared heritability in common disorders of the brain. Science , 360 (6395) , Article eaap8757. 10.1126/science.aap8757.

Apps, JR; Carreno, G; Mario Gonzalez-Meljem, J; Haston, S; Guiho, R; Cooper, JE; Manshaei, S; ... Martinez-Barbera, JP; + view all Apps, JR; Carreno, G; Mario Gonzalez-Meljem, J; Haston, S; Guiho, R; Cooper, JE; Manshaei, S; Jani, N; Holsken, A; Pettorini, B; Beynon, RJ; Simpson, DM; Fraser, HC; Hong, Y; Hallang, S; Stone, TJ; Virasami, A; Donson, AM; Jones, D; Aquilina, K; Spoudeas, H; Joshi, AR; Grundy, R; Storer, LCD; Korbonits, M; Hilton, DA; Tossell, K; Thavaraj, S; Ungless, MA; Gil, J; Buslei, R; Hankinson, T; Hargrave, D; Goding, C; Andoniadou, CL; Brogan, P; Jacques, TS; Williams, HJ; Martinez-Barbera, JP; - view fewer (2018) Tumour compartment transcriptomics demonstrates the activation of inflammatory and odontogenic programmes in human adamantinomatous craniopharyngioma and identifies the MAPK/ERK pathway as a novel therapeutic target. Acta Neuropathologica , 135 (5) pp. 757-777. 10.1007/s00401-018-1830-2.

Augustin, K; Khabbush, A; Williams, S; Eaton, SJ; Orford, M; Cross, H; Heales, SJ; ... Williams, R; + view all Augustin, K; Khabbush, A; Williams, S; Eaton, SJ; Orford, M; Cross, H; Heales, SJ; Walker, M; Williams, R; - view fewer (2018) Mechanisms of action for the medium-chain triglyceride ketogenic diet in neurological and metabolic disorders. The Lancet Neurology , 17 (1) pp. 84-93. 10.1016/S1474-4422(17)30408-8.

Baruteau, J; Perocheau, DP; Hanley, J; Lorvellec, M; Rocha-Ferreira, E; Karda, R; Ng, J; ... Waddington, SN; + view all Baruteau, J; Perocheau, DP; Hanley, J; Lorvellec, M; Rocha-Ferreira, E; Karda, R; Ng, J; Suff, N; Diaz, JA; Rahim, AA; Hughes, MP; Banushi, B; Prunty, H; Hristova, M; Ridout, DA; Virasami, A; Heales, S; Howe, SJ; Buckley, SMK; Mills, PB; Gissen, P; Waddington, SN; - view fewer (2018) Argininosuccinic aciduria fosters neuronal nitrosative stress reversed by Asl gene transfer. Nature Communications , 9 (1) , Article 3505. 10.1038/s41467-018-05972-1.

Bashamboo, A; Eozenou, C; Jorgensen, A; Bignon-Topalovic, J; Siffroi, J-P; Hyon, C; Tar, A; ... McElreavey, K; + view all Bashamboo, A; Eozenou, C; Jorgensen, A; Bignon-Topalovic, J; Siffroi, J-P; Hyon, C; Tar, A; Nagy, P; Sólyom, J; Halász, Z; Paye-Jaouen, A; Lambert, S; Rodriguez-Buritica, D; Bertalan, R; Martinerie, L; Rajpert-De Meyts, E; Achermann, JC; McElreavey, K; - view fewer (2018) Loss of Function of the Nuclear Receptor NR2F2, Encoding COUP-TF2, Causes Testis Development and Cardiac Defects in 46,XX Children. The American Journal of Human Genetics , 102 (3) pp. 487-493. 10.1016/j.ajhg.2018.01.021.

Besser, REJ; Ludvigsson, J; Hindmarsh, PC; Cole, TJ; (2018) Exploring C-peptide loss in type 1 diabetes using growth curve analysis. PLoS ONE , 13 (7) , Article e0199635. 10.1371/journal.pone.0199635.

Best, S; Shoemark, A; Rubbo, B; Patel, MP; Fassad, MR; Dixon, M; Rogers, AV; ... Hogg, C; + view all Best, S; Shoemark, A; Rubbo, B; Patel, MP; Fassad, MR; Dixon, M; Rogers, AV; Hirst, RA; Rutman, A; Ollosson, S; Jackson, CL; Goggin, P; Thomas, S; Pengelly, R; Cullup, T; Pissaridou, E; Hayward, J; Onoufriadis, A; O'Callaghan, C; Loebinger, MR; Wilson, R; Chung, EM; Kenia, P; Doughty, VL; Carvalho, JS; Lucas, JS; Mitchison, HM; Hogg, C; - view fewer (2018) Risk factors for situs defects and congenital heart disease in primary ciliary dyskinesia. Thorax , 74 (2) 10.1136/thoraxjnl-2018-212104.

Blauwendraat, C; Kia, DA; Pihlstrom, L; Gan-Or, Z; Lesage, S; Gibbs, JR; Ding, J; ... Wood, NW; + view all Blauwendraat, C; Kia, DA; Pihlstrom, L; Gan-Or, Z; Lesage, S; Gibbs, JR; Ding, J; Alcalay, RN; Hassin-Baer, S; Pittman, AM; Brooks, J; Edsall, C; Chung, SJ; Goldwurm, S; Toft, M; Schulte, C; Hernandez, D; Singleton, AB; Nalls, MA; Brice, A; Scholz, SW; Wood, NW; - view fewer (2018) Insufficient evidence for pathogenicity of SNCA His50Gln (H50Q) in Parkinson's disease. Neurobiology of Aging , 64 159.e5-159.e8. 10.1016/j.neurobiolaging.2017.12.012.

Blauwendraat, C; Reed, X; Kia, DA; Gan-Or, Z; Lesage, S; Pihlstrøm, L; Guerreiro, R; ... COURAGE-PD (Comprehensive Unbiased Risk Factor Assessment for Ge; + view all Blauwendraat, C; Reed, X; Kia, DA; Gan-Or, Z; Lesage, S; Pihlstrøm, L; Guerreiro, R; Gibbs, JR; Sabir, M; Ahmed, S; Ding, J; Alcalay, RN; Hassin-Baer, S; Pittman, AM; Brooks, J; Edsall, C; Hernandez, DG; Chung, SJ; Goldwurm, S; Toft, M; Schulte, C; Bras, J; Wood, NW; Brice, A; Morris, HR; Scholz, SW; Nalls, MA; Singleton, AB; Cookson, MR; COURAGE-PD (Comprehensive Unbiased Risk Factor Assessment for Ge; - view fewer (2018) Frequency of Loss of Function Variants in LRRK2 in Parkinson Disease. JAMA Neurology 10.1001/jamaneurol.2018.1885. (In press).

Blundell, J; Frisson, S; Chakrapani, A; Gissen, P; Hendriksz, C; Vijay, S; Olson, A; (2018) Oculomotor abnormalities in children with Niemann-Pick type C. Molecular Genetics and Metabolism , 123 (2) pp. 159-168. 10.1016/j.ymgme.2017.11.004.

Blundell, J; Frisson, S; Chakrapani, A; Kearney, S; Vijay, S; MacDonald, A; Gissen, P; ... Olson, A; + view all Blundell, J; Frisson, S; Chakrapani, A; Kearney, S; Vijay, S; MacDonald, A; Gissen, P; Hendriksz, C; Olson, A; - view fewer (2018) Markers of cognitive function in individuals with metabolic disease: Morquio syndrome and tyrosinemia type III. Cognitive Neuropsychology , 35 (3-4) pp. 120-147. 10.1080/02643294.2018.1443913.

Broce, I; Karch, CM; Wen, N; Fan, CC; Wang, Y; Tan, CH; Kouri, N; ... Sugrue, LP; + view all Broce, I; Karch, CM; Wen, N; Fan, CC; Wang, Y; Tan, CH; Kouri, N; Ross, OA; Hoeglinger, GU; Muller, U; Hardy, J; Momeni, P; Hess, CP; Dillon, WP; Miller, ZA; Bonham, LW; Rabinovici, GD; Rosen, HJ; Schellenberg, GD; Franke, A; Karlsen, TH; Veldink, JH; Ferrari, R; Yokoyama, JS; Miller, BL; Andreassen, OA; Dale, AM; Desikan, RS; Sugrue, LP; - view fewer (2018) Immune-related genetic enrichment in frontotemporal dementia: An analysis of genome-wide association studies. PLoS Medicine , 15 (1) , Article e1002487. 10.1371/journal.pmed.1002487.

Brookes, KJ; McConnell, G; Williams, K; Chaudhury, S; Madhan, G; Patel, T; Turley, C; ... Morgan, K; + view all Brookes, KJ; McConnell, G; Williams, K; Chaudhury, S; Madhan, G; Patel, T; Turley, C; Guetta-Baranes, T; Bras, J; Guerreiro, R; Hardy, J; Francis, PT; Morgan, K; - view fewer (2018) Genotyping of the Alzheimer's Disease Genome-Wide Association Study Index Single Nucleotide Polymorphisms in the Brains for Dementia Research Cohort. Journal of Alzheimer's Disease , 64 (2) pp. 355-362. 10.3233/JAD-180191.

Bryant, D; Liu, Y; Datta, S; Hariri, H; Seda, M; Anderson, G; Peskett, E; ... Stanier, PM; + view all Bryant, D; Liu, Y; Datta, S; Hariri, H; Seda, M; Anderson, G; Peskett, E; Demetriou, C; Sousa, S; Jenkins, D; Clayton, P; Bitner-Glindzicz, M; Moore, GE; Henne, WM; Stanier, PM; - view fewer (2018) SNX14 mutations affect endoplasmic reticulum-associated neutral lipid metabolism in autosomal recessive spinocerebellar ataxia 20. Human Molecular Genetics , 27 (11) pp. 1927-1940. 10.1093/hmg/ddy101.

Calmont, A; Anderson, N; Suntharalingham, JP; Ang, R; Tinker, A; Scambler, PJ; (2018) Defective Vagal Innervation in Murine Tbx1 Mutant Hearts. Journal of Cardiovascular Development and Disease , 5 (4) , Article 49. 10.3390/jcdd5040049.

Captur, G; Arbustini, E; Bonne, G; Syrris, P; Mills, K; Wahbi, K; Mohiddin, SA; ... Moon, JC; + view all Captur, G; Arbustini, E; Bonne, G; Syrris, P; Mills, K; Wahbi, K; Mohiddin, SA; McKenna, WJ; Pettit, S; Ho, CY; Muchir, A; Gissen, P; Elliott, PM; Moon, JC; - view fewer (2018) Lamin and the heart. Heart , 104 (6) pp. 468-479. 10.1136/heartjnl-2017-312338.

Cetinkaya, S; Guran, T; Kurnaz, E; Keskin, M; Sagsak, E; Erdeve, SS; Suntharalingham, JP; ... Aycan, Z; + view all Cetinkaya, S; Guran, T; Kurnaz, E; Keskin, M; Sagsak, E; Erdeve, SS; Suntharalingham, JP; Buonocore, F; Achermann, JC; Aycan, Z; - view fewer (2018) A Patient with Proopiomelanocortin Deficiency: An Increasingly Important Diagnosis to Make. Journal of Clinical Research in Pediatric Endocrinology , 10 (1) pp. 68-73. 10.4274/jcrpe.4638.

Chagraoui, H; Kristiansen, MS; Ruiz, JP; Serra-Barros, A; Richter, J; Hall-Ponselé, E; Gray, N; ... Porcher, C; + view all Chagraoui, H; Kristiansen, MS; Ruiz, JP; Serra-Barros, A; Richter, J; Hall-Ponselé, E; Gray, N; Waithe, D; Clark, K; Hublitz, P; Repapi, E; Otto, G; Sopp, P; Taylor, S; Thongjuea, S; Vyas, P; Porcher, C; - view fewer (2018) SCL/TAL1 cooperates with Polycomb RYBP-PRC1 to suppress alternative lineages in blood-fated cells. Nature Communications , 9 , Article 5375. 10.1038/s41467-018-07787-6.

Chandler, N; Best, S; Hayward, J; Faravelli, F; Mansour, S; Kivuva, E; Tapon, D; ... Chitty, LS; + view all Chandler, N; Best, S; Hayward, J; Faravelli, F; Mansour, S; Kivuva, E; Tapon, D; Male, A; DeVile, C; Chitty, LS; - view fewer (2018) Rapid prenatal diagnosis using targeted exome sequencing: a cohort study to assess feasibility and potential impact on prenatal counseling and pregnancy management. Genetics in Medicine , 20 pp. 1430-1437. 10.1038/gim.2018.30.

Clayton, PT; Mills, PB; (2018) Micronutrients: Speculation on Inborn Errors, Nutrigenomics, Evolution, the Microbiome, and Nutritional Immunity. Journal of Inborn Errors of Metabolism and Screening , 6 (1-5) 10.1177/2326409818765011.

Coats, CJ; Heywood, WE; Virasami, A; Ashrafi, N; Syrris, P; dos Remedios, C; Treibel, TA; ... Elliott, PM; + view all Coats, CJ; Heywood, WE; Virasami, A; Ashrafi, N; Syrris, P; dos Remedios, C; Treibel, TA; Moon, JC; Lopes, LR; McGregor, CGA; Ashworth, M; Sebire, NJ; McKenna, WJ; Mills, K; Elliott, PM; - view fewer (2018) Proteomic Analysis of the Myocardium in Hypertrophic Obstructive Cardiomyopathy. Circulation: Genomic and Precision Medicine , 11 (12) , Article e001974. 10.1161/CIRCGEN.117.001974.

Counsell, JR; Karda, R; Diaz, JA; Carey, L; Wiktorowicz, T; Buckley, SMK; Ameri, S; ... Howe, SJ; + view all Counsell, JR; Karda, R; Diaz, JA; Carey, L; Wiktorowicz, T; Buckley, SMK; Ameri, S; Ng, J; Baruteau, J; Almeida, F; de Silva, R; Simone, R; Lugarà, E; Lignani, G; Lindemann, D; Rethwilm, A; Rahim, AA; Waddington, SN; Howe, SJ; - view fewer (2018) Foamy Virus Vectors Transduce Visceral Organs and Hippocampal Structures following In Vivo Delivery to Neonatal Mice. Molecular Therapy - Nucleic Acids , 12 pp. 626-634. 10.1016/j.omtn.2018.07.006.

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Ip, HF; Jansen, R; Abdellaoui, A; Bartels, M; UK Brain Expression Consortium, .; Boomsma, DI; Nivard, MG; (2018) Characterizing the Relation Between Expression QTLs and Complex Traits: Exploring the Role of Tissue Specificity. Behavior Genetics , 48 (5) pp. 374-385. 10.1007/s10519-018-9914-2.

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Shoemark, A; Burgoyne, T; Kwan, R; Dixon, M; Patel, MP; Rogers, AV; Onoufriadis, A; ... Hogg, C; + view all Shoemark, A; Burgoyne, T; Kwan, R; Dixon, M; Patel, MP; Rogers, AV; Onoufriadis, A; Scully, J; Daudvohra, F; Cullup, T; Loebinger, MR; Wilson, R; Chung, EMK; Bush, A; Mitchison, HM; Hogg, C; - view fewer (2018) Primary ciliary dyskinesia with normal ultrastructure: three-dimensional tomography detects absence of DNAH11. European Respiratory Journal , 51 (2) , Article 1701809. 10.1183/13993003.01809-2017.

Solanky, N; Ishida, M; Aléman-Charlet, C; Abu-Amero, S; Alders, M; Alvizi, L; Baird, W; ... Hennekam, RC; + view all Solanky, N; Ishida, M; Aléman-Charlet, C; Abu-Amero, S; Alders, M; Alvizi, L; Baird, W; Demetriou, C; Henneman, P; James, C; Knegt, AC; Leon, LJ; Mannens, MMAM; Mul, AN; Nibbering, NA; Peskett, E; Rezwan, FI; Ris-Stalpers, C; van der Post, JAM; Kamp, GA; Plotz, FB; Wit, JM; Stanier, PM; Moore, GE; Hennekam, RC; - view fewer (2018) Genetic Analyses in Small for Gestational Age Newborns. Journal of Clinical Endocrinology and Metabolism , 103 (3) pp. 917-925. 10.1210/jc.2017-01843.

Spanos, C; Maldonado, EM; Fisher, CP; Leenutaphong, P; Oviedo-Orta, E; Windridge, D; Salguero, FJ; ... Moore, JB; + view all Spanos, C; Maldonado, EM; Fisher, CP; Leenutaphong, P; Oviedo-Orta, E; Windridge, D; Salguero, FJ; Bermudez-Fajardo, A; Weeks, ME; Evans, C; Corfe, BM; Rabbani, N; Thornalley, PJ; Miller, MH; Wang, H; Dillon, JF; Quaglia, A; Dhawan, A; Fitzpatrick, E; Moore, JB; - view fewer (2018) Proteomic identification and characterization of hepatic glyoxalase 1 dysregulation in non-alcoholic fatty liver disease. Proteome Science , 16 , Article 4. 10.1186/s12953-018-0131-y.

Stokman, MF; van der Zwaag, B; van de Kar, NCAJ; van Haelst, MM; van Eerde, AM; van der Heijden, JW; Kroes, HY; ... Lilien, MR; + view all Stokman, MF; van der Zwaag, B; van de Kar, NCAJ; van Haelst, MM; van Eerde, AM; van der Heijden, JW; Kroes, HY; Ippel, E; Schulp, AJA; van Gassen, KL; van Rooij, IALM; Giles, RH; Beales, PL; Roepman, R; Arts, HH; Bongers, EMHF; Renkema, KY; Knoers, NVAM; van Reeuwijk, J; Lilien, MR; - view fewer (2018) Clinical and genetic analyses of a Dutch cohort of 40 patients with a nephronophthisis-related ciliopathy. Pediatric Nephrology , 33 (10) pp. 1701-1712. 10.1007/s00467-018-3958-7.

Stone, TJ; Keeley, A; Virasami, A; Harkness, W; Tisdall, M; Izquierdo Delgado, E; Gutteridge, A; ... Jacques, TS; + view all Stone, TJ; Keeley, A; Virasami, A; Harkness, W; Tisdall, M; Izquierdo Delgado, E; Gutteridge, A; Brooks, T; Kristiansen, M; Chalker, J; Wilkhu, L; Mifsud, W; Apps, J; Thom, M; Hubank, M; Forshew, T; Cross, JH; Hargrave, D; Ham, J; Jacques, TS; - view fewer (2018) Comprehensive molecular characterisation of epilepsy-associated glioneuronal tumours. Acta Neuropathologica , 135 (1) pp. 115-129. 10.1007/s00401-017-1773-z.

Studniarczyk, D; Needham, E; Mitchison, H; Farrant, M; Cull-Candy, S; (2018) Altered Cerebellar Short-Term Plasticity but No Change in Postsynaptic AMPA-Type Glutamate Receptors in a Mouse Model of Juvenile Batten Disease. eNeuro , 5 (2) , Article e0387. 10.1523/ENEURO.0387-17.2018.

Suff, N; Karda, R; Antinao Diaz, J; Ng, J; Baruteau, J; Perocheau, D; Tangney, M; ... Waddington, SN; + view all Suff, N; Karda, R; Antinao Diaz, J; Ng, J; Baruteau, J; Perocheau, D; Tangney, M; Taylor, P; Peebles, D; Buckley, SMK; Waddington, SN; - view fewer (2018) Ascending Vaginal Infection Using Bioluminescent Bacteria Evokes Intrauterine Inflammation, Preterm Birth and Neonatal Brain Injury in Pregnant Mice. American Journal of Pathology , 188 (10) pp. 2164-2176. 10.1016/j.ajpath.2018.06.016.

Tachner, M; Lorentzen, A; Maurao, A; Collins, T; Freke, G; Moulding, D; Bsquin, J; ... Lorentzen, E; + view all Tachner, M; Lorentzen, A; Maurao, A; Collins, T; Freke, G; Moulding, D; Bsquin, J; Jenkins, D; Lorentzen, E; - view fewer (2018) Crystal structure of intraflagellar transport protein 80 reveals a homo-dimer required for ciliogenesis. eLife , 7 , Article e33067. 10.7554/eLife.33067.

Tagalakis, AD; Munye, MM; Ivanova, R; Chen, H; Smith, CM; Aldossary, AM; Rosa, LZ; ... Hart, SL; + view all Tagalakis, AD; Munye, MM; Ivanova, R; Chen, H; Smith, CM; Aldossary, AM; Rosa, LZ; Moulding, D; Barnes, JL; Kafetzis, KN; Jones, SA; Baines, DL; Moss, GWJ; O'Callaghan, C; McAnulty, RJ; Hart, SL; - view fewer (2018) Effective silencing of ENaC by siRNA delivered with epithelial-targeted nanocomplexes in human cystic fibrosis cells and in mouse lung. Thorax , 73 (9) pp. 847-856. 10.1136/thoraxjnl-2017-210670.

Thomas, AC; Heux, P; Santos, C; Arulvasan, W; Solanky, N; Carey, ME; Gerrelli, D; ... Etchevers, HC; + view all Thomas, AC; Heux, P; Santos, C; Arulvasan, W; Solanky, N; Carey, ME; Gerrelli, D; Kinsler, VA; Etchevers, HC; - view fewer (2018) Widespread dynamic and pleiotropic expression of the melanocortin-1-receptor (MC1R) system is conserved across chick, mouse and human embryonic development. Birth Defects Research , 110 (5) pp. 443-455. 10.1002/bdr2.1183.

Tranebjærg, L; Strenzke, N; Lindholm, S; Rendtorff, ND; Poulsen, H; Khandelia, H; Kopec, W; ... Bitner-Glindzicz, M; + view all Tranebjærg, L; Strenzke, N; Lindholm, S; Rendtorff, ND; Poulsen, H; Khandelia, H; Kopec, W; Lyngbye, TJB; Hamel, C; Delettre, C; Bocquet, B; Bille, M; Owen, HH; Bek, T; Jensen, H; Østergaard, K; Möller, C; Luxon, L; Carr, L; Wilson, L; Rajput, K; Sirimanna, T; Harrop-Griffiths, K; Rahman, S; Vona, B; Doll, J; Haaf, T; Bartsch, O; Rosewich, H; Moser, T; Bitner-Glindzicz, M; - view fewer (2018) The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management. Human Genetics , 137 (2) pp. 111-127. 10.1007/s00439-017-1862-z.

Tuijnenburg, P; Lango Allen, H; Burns, SO; Greene, D; Jansen, MH; Staples, E; Stephens, J; ... NIHR-BioResource – Rare Diseases Consortium, .; + view all Tuijnenburg, P; Lango Allen, H; Burns, SO; Greene, D; Jansen, MH; Staples, E; Stephens, J; Carss, KJ; Biasci, D; Baxendale, H; Thomas, M; Chandra, A; Kiani-Alikhan, S; Longhurst, HJ; Seneviratne, SL; Oksenhendler, E; Simeoni, I; de Bree, GJ; Tool, ATJ; van Leeuwen, EMM; Ebberink, EHTM; Meijer, AB; Tuna, S; Whitehorn, D; Brown, M; Turro, E; Thrasher, AJ; Smith, KGC; Thaventhiran, JE; Kuijpers, TW; NIHR-BioResource – Rare Diseases Consortium, .; - view fewer (2018) Loss of function NFKB1 variants are the most common monogenic cause of CVID in Europeans. Journal of Allergy and Clinical Immunology , 142 (4) pp. 1285-1296. 10.1016/j.jaci.2018.01.039.

Verity, C; Winstone, AM; Will, R; Powell, A; Baxter, P; de Sousa, C; Gissen, P; ... Zuberi, S; + view all Verity, C; Winstone, AM; Will, R; Powell, A; Baxter, P; de Sousa, C; Gissen, P; Kurian, M; Livingston, J; McFarland, R; Pal, S; Pike, M; Robinson, R; Wassmer, E; Zuberi, S; - view fewer (2018) Surveillance for variant CJD: should more children with neurodegenerative diseases have autopsies? Archives of Disease in Childhood 10.1136/archdischild-2018-315458. (In press).

Volpato, V; Smith, J; Sandor, C; Ried, JS; Baud, A; Handel, A; Newey, SE; ... Lakics, V; + view all Volpato, V; Smith, J; Sandor, C; Ried, JS; Baud, A; Handel, A; Newey, SE; Wessely, F; Attar, M; Whiteley, E; Chintawar, S; Verheyen, A; Barta, T; Lako, M; Armstrong, L; Muschet, C; Artati, A; Cusulin, C; Christensen, K; Patsch, C; Sharma, E; Nicod, J; Brownjohn, P; Stubbs, V; Heywood, WE; Gissen, P; De Filippis, R; Janssen, K; Reinhardt, P; Adamski, J; Royaux, I; Peeters, PJ; Terstappen, GC; Graf, M; Livesey, FJ; Akerman, CJ; Mills, K; Bowden, R; Nicholson, G; Webber, C; Cader, MZ; Lakics, V; - view fewer (2018) Reproducibility of Molecular Phenotypes after Long-Term Differentiation to Human iPSC-Derived Neurons: A Multi-Site Omics Study. Stem Cell Reports , 11 (4) pp. 897-911. 10.1016/j.stemcr.2018.08.013.

Whelan, CD; Altmann, A; Botía, JA; Jahanshad, N; Hibar, DP; Absil, J; Alhusaini, S; ... Sisodiya, SM; + view all Whelan, CD; Altmann, A; Botía, JA; Jahanshad, N; Hibar, DP; Absil, J; Alhusaini, S; Alvim, MKM; Auvinen, P; Bartolini, E; Bergo, FPG; Bernardes, T; Blackmon, K; Braga, B; Caligiuri, ME; Calvo, A; Carr, SJ; Chen, J; Chen, S; Cherubini, A; David, P; Domin, M; Foley, S; França, W; Haaker, G; Isaev, D; Keller, SS; Kotikalapudi, R; Kowalczyk, MA; Kuzniecky, R; Langner, S; Lenge, M; Leyden, KM; Liu, M; Loi, RQ; Martin, P; Mascalchi, M; Morita, ME; Pariente, JC; Rodríguez-Cruces, R; Rummel, C; Saavalainen, T; Semmelroch, MK; Severino, M; Thomas, RH; Tondelli, M; Tortora, D; Vaudano, AE; Vivash, L; von Podewils, F; Wagner, J; Weber, B; Yao, Y; Yasuda, CL; Zhang, G; Bargalló, N; Bender, B; Bernasconi, N; Bernasconi, A; Bernhardt, BC; Blümcke, I; Carlson, C; Cavalleri, GL; Cendes, F; Concha, L; Delanty, N; Depondt, C; Devinsky, O; Doherty, CP; Focke, NK; Gambardella, A; Guerrini, R; Hamandi, K; Jackson, GD; Kälviäinen, R; Kochunov, P; Kwan, P; Labate, A; McDonald, CR; Meletti, S; O'Brien, TJ; Ourselin, S; Richardson, MP; Striano, P; Thesen, T; Wiest, R; Zhang, J; Vezzani, A; Ryten, M; Thompson, PM; Sisodiya, SM; - view fewer (2018) Structural brain abnormalities in the common epilepsies assessed in a worldwide ENIGMA study. Brain , 141 (2) pp. 391-408. 10.1093/brain/awx341.

Whitworth, J; Smith, PS; Martin, J-E; West, H; Luchetti, A; Rodger, F; Clark, G; ... Maher, ER; + view all Whitworth, J; Smith, PS; Martin, J-E; West, H; Luchetti, A; Rodger, F; Clark, G; Carss, K; Stephens, J; Stirrups, K; Penkett, C; Mapeta, R; Ashford, S; Megy, K; Shakeel, H; Ahmed, M; Adlard, J; Barwell, J; Brewer, C; Casey, RT; Armstrong, R; Cole, T; Evans, DG; Fostira, F; Greenhalgh, L; Hanson, H; Henderson, A; Hoffman, J; Izatt, L; Kumar, A; Kwong, A; Lalloo, F; Ong, KR; Paterson, J; Park, S-M; Chen-Shtoyerman, R; Searle, C; Side, L; Skytte, A-B; Snape, K; Woodward, ER; NIHR BioResource Rare Diseases Consortium; Tischkowitz, MD; Maher, ER; - view fewer (2018) Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes. The American Journal of Human Genetics , 103 (1) pp. 3-18. 10.1016/j.ajhg.2018.04.013.

Zhang, M; Ferrari, R; Tartaglia, MC; Keith, J; Surace, EI; Wolf, U; Sato, C; ... International FTD-Genomics Consortium (IFGC), .; + view all Zhang, M; Ferrari, R; Tartaglia, MC; Keith, J; Surace, EI; Wolf, U; Sato, C; Grinberg, M; Liang, Y; Xi, Z; Dupont, K; McGoldrick, P; Weichert, A; McKeever, PM; Schneider, R; McCorkindale, MD; Manzoni, C; Rademakers, R; Graff-Radford, NR; Dickson, DW; Parisi, JE; Boeve, BF; Petersen, RC; Miller, BL; Seeley, WW; van Swieten, JC; van Rooij, J; Pijnenburg, Y; van der Zee, J; Van Broeckhoven, C; Le Ber, I; Van Deerlin, V; Suh, E; Rohrer, JD; Mead, S; Graff, C; Öijerstedt, L; Pickering-Brown, S; Rollinson, S; Rossi, G; Tagliavini, F; Brooks, WS; Dobson-Stone, C; Halliday, GM; Hodges, JR; Piguet, O; Binetti, G; Benussi, L; Ghidoni, R; Nacmias, B; Sorbi, S; Bruni, AC; Galimberti, D; Scarpini, E; Rainero, I; Rubino, E; Clarimon, J; Lleó, A; Ruiz, A; Hernández, I; Pastor, P; Diez-Fairen, M; Borroni, B; Pasquier, F; Deramecourt, V; Lebouvier, T; Perneczky, R; Diehl-Schmid, J; Grafman, J; Huey, ED; International FTD-Genomics Consortium (IFGC), .; Mayeux, R; Nalls, MA; Hernandez, D; Singleton, A; Momeni, P; Zeng, Z; Hardy, J; Robertson, J; Zinman, L; Rogaeva, E; International FTD-Genomics Consortium (IFGC), .; - view fewer (2018) A C6orf10/LOC101929163 locus is associated with age of onset in C9orf72 carriers. Brain , 141 (10) pp. 2895-2907. 10.1093/brain/awy238.

Zhou, H; Muntoni, F; (2018) Morpholino-Mediated Exon Inclusion for SMA. Exon Skipping and Inclusion Therapies , 1828 pp. 467-477. 10.1007/978-1-4939-8651-4_29.

Book chapter

Stanier, PM; Seselgyte, R; Moore, GE; Pauws, E; (2018) TBX22-Associated Syndrome. In: UNSPECIFIED (In press).

Proceedings paper

Farley, H; Rubbo, B; Bukowy-Bieryllo, Z; Fassad, M; Goutaki, M; Harman, K; Hogg, C; ... Marthin, JK; + view all Farley, H; Rubbo, B; Bukowy-Bieryllo, Z; Fassad, M; Goutaki, M; Harman, K; Hogg, C; Kuehni, CE; Lopes, S; Nielsen, KG; Norris, DP; Reula, A; Rumman, N; Shoemark, A; Wilkins, H; Wisse, A; Lucas, JS; Marthin, JK; - view fewer (2018) Proceedings of the 3rd BEAT-PCD Conference and 4th PCD Training School. In: Proceedings of the 3rd BEAT-PCD Conference and 4th PCD Training School. BMC (BioMed Central): London, UK.

Kleine Holthaus, S-M; Smith, AJ; Mole, SE; Ali, RR; (2018) Gene Therapy Approaches to Treat the Neurodegeneration and Visual Failure in Neuronal Ceroid Lipofuscinoses. In: Retinal Degenerative Diseases. (pp. pp. 91-99). Springer: Cham, Switzerland.

Working / discussion paper

Salih, D; Bayram, S; Guelfi, MS; Reynolds, RH; Shoai, M; Ryten, M; Brenton, J; ... Escott-Price, V; + view all Salih, D; Bayram, S; Guelfi, MS; Reynolds, RH; Shoai, M; Ryten, M; Brenton, J; Zhang, D; Matarin, M; Botia, J; Shah, R; Brookes, K; Guetta-Baranes, T; Morgan, K; Bellou, E; Cummings, DM; Hardy, J; Edwards, FA; Escott-Price, V; - view fewer (2018) Genetic variability in response to Aβ deposition influences Alzheimer's risk. BioRxiv: Cold Spring Harbor, NY, USA.

Conference item

Perretta Tejedor, N; Barreira, E; Seda, M; Jenkins, D; Woolf, AS; Winyard, P; Long, DA; (2018) Using CRISPR technology to generate models of polycystic kidney disease. Presented at: Europhysiology 2018, London.

Yu-Wai-Man, C; Fernando, O; Tagalakis, A; Hart, S; Khaw, PT; (2018) Development of targeted siRNA nanotherapeutics to prevent fibrosis in experimental glaucoma filtration surgery. Presented at: ARVO Annual Meeting 2018, Honolulu, Hawaii.

Thesis

Aldossary, Ahmad Mohammad; (2018) Correction of the ΔF508 mutation in the CFTR Gene by CRISPR/Cas9 system. Doctoral thesis (Ph.D), UCL (University College London).

Davies, Rosalind Jane; (2018) Advancing our understanding of the ciliopathy, Bardet-Biedl Syndrome: an omics approach. Doctoral thesis (Ph.D), UCL (University College London).

Doreste Gonzalez, Bruno; (2018) The effect of modulating the dystrophic skeletal muscle environment on satellite cell engraftment. Doctoral thesis (Ph.D), UCL (University College London).

Fassad, Mahmoud Raafat; (2018) Novel Gene Discovery in Primary Ciliary Dyskinesia. Doctoral thesis (Ph.D), UCL (University College London).

Karampetsou, Evangelia; (2018) A novel arrayCGH-based non-invasive prenatal test for common trisomies. Doctoral thesis (Ph.D), UCL (University College London).

Maeshima, Ruhina; (2018) MYCN Silencing as Therapeutics for Neuroblastoma using RNA interference. Doctoral thesis (Ph.D), UCL (University College London).

Mosaku, Olukunbi Eniola; (2018) The Use of the CRISPR-Cas9 System and iPSC-derived Neurons with a SNCA Mutation to Model Neurodegeneration. Doctoral thesis (Ph.D), UCL (University College London).

Murray, Christina Elizabeth; (2018) The role of TREM2 in neurodegeneration. Doctoral thesis (Ph.D), UCL (University College London).

Riachi, Melissa; (2018) Understanding the Molecular and Genetic Basis of Complex Syndromes of Diabetes Mellitus. Doctoral thesis (Ph.D), UCL (University College London).

This list was generated on Sun Mar 16 23:44:40 2025 GMT.