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Article

Abarrategi, A; Gambera, S; Alfranca, A; Rodriguez-Milla, MA; Perez-Tavarez, R; Rouault-Pierre, K; Waclawiczek, A; ... García-Castro, J; + view all (2018) c-Fos induces chondrogenic tumor formation in immortalized human mesenchymal progenitor cells. Scientific Reports , 8 , Article 15615. 10.1038/s41598-018-33689-0. Green open access
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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. Green open access
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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. Green open access
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Al-Olabi, L; Polubothu, S; Dowsett, K; Andrews, KA; Stadnik, P; Joseph, AP; Knox, R; ... Kinsler, VA; + view all (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. Green open access
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Anttila, V; Bulik-Sullivan, B; Finucane, HK; Walters, RK; Bras, J; Duncan, L; Escott-Price, V; ... Neale, BM; + view all (2018) Analysis of shared heritability in common disorders of the brain. Science , 360 (6395) , Article eaap8757. 10.1126/science.aap8757. Green open access
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Apps, JR; Carreno, G; Mario Gonzalez-Meljem, J; Haston, S; Guiho, R; Cooper, JE; Manshaei, S; ... Martinez-Barbera, JP; + view all (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. Green open access
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Augustin, K; Khabbush, A; Williams, S; Eaton, SJ; Orford, M; Cross, H; Heales, SJ; ... Williams, R; + view all (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. Green open access
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Baruteau, J; Perocheau, DP; Hanley, J; Lorvellec, M; Rocha-Ferreira, E; Karda, R; Ng, J; ... Waddington, SN; + view all (2018) Argininosuccinic aciduria fosters neuronal nitrosative stress reversed by Asl gene transfer. Nature Communications , 9 (1) , Article 3505. 10.1038/s41467-018-05972-1. Green open access
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Bashamboo, A; Eozenou, C; Jorgensen, A; Bignon-Topalovic, J; Siffroi, J-P; Hyon, C; Tar, A; ... McElreavey, K; + view all (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. Green open access
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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. Green open access
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Best, S; Shoemark, A; Rubbo, B; Patel, MP; Fassad, MR; Dixon, M; Rogers, AV; ... Hogg, C; + view all (2018) Risk factors for situs defects and congenital heart disease in primary ciliary dyskinesia. Thorax , 74 (2) 10.1136/thoraxjnl-2018-212104. Green open access
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Blauwendraat, C; Kia, DA; Pihlstrom, L; Gan-Or, Z; Lesage, S; Gibbs, JR; Ding, J; ... Wood, NW; + view all (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. Green open access
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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 (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. Green open access
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Blundell, J; Frisson, S; Chakrapani, A; Kearney, S; Vijay, S; MacDonald, A; Gissen, P; ... Olson, A; + view all (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. Green open access
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Broce, I; Karch, CM; Wen, N; Fan, CC; Wang, Y; Tan, CH; Kouri, N; ... Sugrue, LP; + view all (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. Green open access
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Brookes, KJ; McConnell, G; Williams, K; Chaudhury, S; Madhan, G; Patel, T; Turley, C; ... Morgan, K; + view all (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. Green open access
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Bryant, D; Liu, Y; Datta, S; Hariri, H; Seda, M; Anderson, G; Peskett, E; ... Stanier, PM; + view all (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. Green open access
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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. Green open access
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Captur, G; Arbustini, E; Bonne, G; Syrris, P; Mills, K; Wahbi, K; Mohiddin, SA; ... Moon, JC; + view all (2018) Lamin and the heart. Heart , 104 (6) pp. 468-479. 10.1136/heartjnl-2017-312338. Green open access
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Cetinkaya, S; Guran, T; Kurnaz, E; Keskin, M; Sagsak, E; Erdeve, SS; Suntharalingham, JP; ... Aycan, Z; + view all (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. Green open access
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Chagraoui, H; Kristiansen, MS; Ruiz, JP; Serra-Barros, A; Richter, J; Hall-Ponselé, E; Gray, N; ... Porcher, C; + view all (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. Green open access
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Chandler, N; Best, S; Hayward, J; Faravelli, F; Mansour, S; Kivuva, E; Tapon, D; ... Chitty, LS; + view all (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. Green open access
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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. Green open access
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Coats, CJ; Heywood, WE; Virasami, A; Ashrafi, N; Syrris, P; dos Remedios, C; Treibel, TA; ... Elliott, PM; + view all (2018) Proteomic Analysis of the Myocardium in Hypertrophic Obstructive Cardiomyopathy. Circulation: Genomic and Precision Medicine , 11 (12) , Article e001974. 10.1161/CIRCGEN.117.001974. Green open access
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Counsell, JR; Karda, R; Diaz, JA; Carey, L; Wiktorowicz, T; Buckley, SMK; Ameri, S; ... Howe, SJ; + view all (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. Green open access
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Danyukova, T; Ariunbat, K; Thelen, M; Brocke-Ahmadinejad, N; Mole, SE; Storch, S; (2018) Loss of CLN7 results in depletion of soluble lysosomal proteins and impaired mTOR reactivation. Human Molecular Genetics , 27 (10) pp. 1711-1722. 10.1093/hmg/ddy076. Green open access
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Davy, T; Castellano, S; (2018) The genomics of selenium: Its past, present and future. Biochimica et Biophysica Acta (BBA) - General Subjects , 1862 (11) pp. 2427-2432. 10.1016/j.bbagen.2018.05.020. Green open access
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de la Rosa Carrillo, D; Vindenes, H; Kinsler, VA; Rønnestad, A; Ringstad, G; Müller, L-SO; Tafjord, S; ... Clausen, OPF; + view all (2018) Aggressive melanoma in an infant with congenital melanocytic nevus syndrome and multiple, NRAS and BRAF mutation‐negative nodules. Pediatric Dermatology , 35 (5) e281-e285. 10.1111/pde.13595. Green open access
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de Rooy, RLP; Halbertsma, FJ; Struijs, EA; van Spronsen, FJ; Lunsing, RJ; Schippers, HM; van Hasselt, PM; ... Bok, LA; + view all (2018) Pyridoxine dependent epilepsy: Is late onset a predictor for favorable outcome? European Journal of Paediatric Neurology , 22 (4) pp. 662-666. 10.1016/j.ejpn.2018.03.009. Green open access
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Eastlake, K; Heywood, WE; Banerjee, P; Bliss, E; Mills, K; Khaw, P; Charteris, D; (2018) Comparative proteomic analysis of normal and gliotic PVR retina and contribution of Müller glia to this profile. Experimental Eye Research , 177 pp. 197-207. 10.1016/j.exer.2018.08.016. Green open access
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Farmery, JHR; Smith, ML; Lynch, AG; Huissoon, A; Furnell, A; Mead, A; Levine, AP; ... Tan, Y; + view all (2018) Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data (vol 8, 1300, 2018). Scientific Reports , 8 , Article 13376. 10.1038/s41598-018-31524-0. Green open access
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Farmery, JHR; Smith, ML; NIHR BioResource - Rare Diseases, .; Lynch, AG; Mead, A; Levine, AP; Manzur, A; ... Huissoon, A; + view all (2018) Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data. Scientific Reports , 8 , Article 1300. 10.1038/s41598-017-14403-y. Green open access
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Fassad, MR; Shoemark, A; le Borgne, P; Koll, F; Patel, M; Dixon, M; Hayward, J; ... Mitchison, HM; + view all (2018) C11orf70 Mutations Disrupting the Intraflagellar Transport-Dependent Assembly of Multiple Axonemal Dyneins Cause Primary Ciliary Dyskinesia. The American Journal of Human Genetics , 102 (5) pp. 956-972. 10.1016/j.ajhg.2018.03.024. Green open access
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Fassad, MR; Shoemark, A; Legendre, M; Hirst, RA; Koll, F; le Borgne, P; Louis, B; ... Mitchison, HM; + view all (2018) Mutations in Outer Dynein Arm Heavy Chain DNAH9 Cause Motile Cilia Defects and Situs Inversus. The American Journal of Human Genetics 10.1016/j.ajhg.2018.10.016. (In press). Green open access
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Fernando, O; Tagalakis, AD; Shiekh Hassan Awwad, S; Brocchini, S; Khaw, PT; Hart, S; Yu-Wai-Man, C; (2018) Development of targeted siRNA nanocomplexes to prevent fibrosis in experimental glaucoma filtration surgery. Molecular Therapy , 26 (12) pp. 2812-2822. 10.1016/j.ymthe.2018.09.004. Green open access
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Forsythe, E; Kenny, J; Bacchelli, C; Beales, PL; (2018) Managing Bardet-Biedl Syndrome-Now and in the Future. Frontiers in Pediatrics , 6 , Article 23. 10.3389/fped.2018.00023. Green open access
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Fratta, P; Sivakumar, P; Humphrey, J; Lo, K; Ricketts, T; Oliveira, H; Brito-Armas, JM; ... Acevedo-Arozena, A; + view all (2018) Mice with endogenous TDP-43 mutations exhibit gain of splicing function and characteristics of amyotrophic lateral sclerosis. EMBO Journal , 2018 , Article e98684. 10.15252/embj.201798684. Green open access
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Gagunashvili, AN; Andrésson, OS; (2018) Distinctive characters of Nostoc genomes in cyanolichens. BMC Genomics , 19 , Article 434. 10.1186/s12864-018-4743-5. Green open access
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Gambera, S; Abarrategi, A; González-Camacho, F; Morales-Molina, Á; Roma, J; Alfranca, A; García-Castro, J; (2018) Clonal dynamics in osteosarcoma defined by RGB marking. Nature Communications , 9 (1) , Article 3994. 10.1038/s41467-018-06401-z. Green open access
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Gambera, S; Abarrategi, A; Rodríguez-Milla, MA; Mulero, F; Menéndez, ST; Rodriguez, R; Navarro, S; (2018) Role of Activator Protein-1 Complex on the Phenotype of Human Osteosarcomas Generated from Mesenchymal Stem Cells. Stem Cells , 36 (10) pp. 1487-1500. 10.1002/stem.2869. Green open access
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Garone, C; Taylor, RW; Nascimento, A; Poulton, J; Fratter, C; Dominguez-Gonzalez, C; Evans, JC; ... Hirano, M; + view all (2018) Retrospective natural history of thymidine kinase 2 deficiency. Journal of Medical Genetics , 55 (8) pp. 515-521. 10.1136/jmedgenet-2017-105012. Green open access
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Geberhiwot, T; Moro, A; Dardis, A; Ramaswami, U; Sirrs, S; Marfa, MP; Vanier, MT; ... Patterson, M; + view all (2018) Consensus clinical management guidelines for Niemann-Pick disease type C. Orphanet Journal of Rare Diseases , 13 , Article 50. 10.1186/s13023-018-0785-7. Green open access
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Hargreaves, I; Mody, N; Land, J; Heales, S; (2018) Blood Mononuclear Cell Mitochondrial Respiratory Chain Complex IV Activity Is Decreased in Multiple Sclerosis Patients: Effects of β-Interferon Treatment. Journal of Clinical Medicine , 7 (2) , Article 36. 10.3390/jcm7020036. Green open access
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Harrison, P; Hart, S; (2018) Gene editing and gene regulation with CRISPR. Experimental Physiology , 103 (4) pp. 437-438. 10.1113/EP086864. Green open access
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Harrison, PT; Hart, S; (2018) A beginner's guide to gene editing. Experimental Physiology , 103 (4) pp. 439-448. 10.1113/EP086047. Green open access
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Heywood, WE; Hallqvist, J; Heslegrave, AJ; Zetterberg, H; Fenoglio, C; Scarpini, E; Rohrer, JD; ... Mills, K; + view all (2018) CSF pro-orexin and amyloid-β38 expression in Alzheimer's disease and frontotemporal dementia. Neurobiology of Aging , 72 pp. 171-176. 10.1016/j.neurobiolaging.2018.08.019. Green open access
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Hikmat, O; Naess, K; Engvall, M; Klingenberg, C; Rasmussen, M; Tallaksen, CME; Brodtkorb, E; ... Bindoff, LA; + view all (2018) Elevated cerebrospinal fluid protein in POLG-related epilepsy: Diagnostic and prognostic implications. Epilepsia , 59 (8) pp. 1595-1602. 10.1111/epi.14459. Green open access
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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. Green open access
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Irving, S; Dixon, M; Fassad, MR; Frost, E; Hayward, J; Kilpin, K; Ollosson, S; ... Bush, A; + view all (2018) Primary Ciliary Dyskinesia Due to Microtubular Defects is Associated with Worse Lung Clearance Index. Lung , 196 (2) pp. 231-238. 10.1007/s00408-018-0086-x. Green open access
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Ishida, M; Cullup, T; Boustred, C; James, C; Docker, J; English, C; GOSgene, .; ... Stanier, PM; + view all (2018) A targeted sequencing panel identifies rare damaging variants in multiple genes in the cranial neural tube defect, anencephaly. Clinical Genetics , 93 (4) pp. 870-879. 10.1111/cge.13189. Green open access
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Ito, Y; Carss, KJ; Duarte, ST; Hartley, T; Keren, B; Kurian, MA; Marey, I; ... Revel-Vilk, S; + view all (2018) De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures. American Journal of Human Genetics , 103 (1) pp. 144-153. 10.1016/j.ajhg.2018.06.001. Green open access
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Jabbari, E; Woodside, J; Tan, MMX; Shoai, M; Pittman, A; Ferrari, R; Mok, KY; ... Morris, HR; + view all (2018) Variation at the TRIM11 locus modifies progressive supranuclear palsy phenotype. Annals of Neurology , 84 (4) pp. 485-496. 10.1002/ana.25308. Green open access
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Johannsson, G; Bidlingmaier, M; Biller, BMK; Boguszewski, M; Casanueva, FF; Chanson, P; Clayton, PE; ... Jorgensen, JOL; + view all (2018) Growth hormone research society perspective on biomarkers of gh action in children and adults. Endocrine Connections , 7 (3) R126-R134. 10.1530/EC-18-0047. Green open access
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Karamitros, D; Stoilova, B; Aboukhalil, Z; Hamey, F; Reinisch, A; Samitsch, M; Quek, L; ... Vyas, P; + view all (2018) Single-cell analysis reveals the continuum of human lympho-myeloid progenitor cells. Nature Immunologyvolume , 19 pp. 85-97. 10.1038/s41590-017-0001-2. Green open access
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Karch, CM; Wen, N; Fan, CC; Yokoyama, JS; Kouri, N; Ross, OA; Höglinger, G; ... International Frontotemporal Dementia (FTD)–Genomics Consortium,; + view all (2018) Selective Genetic Overlap Between Amyotrophic Lateral Sclerosis and Diseases of the Frontotemporal Dementia Spectrum. JAMA Neurol 10.1001/jamaneurol.2018.0372. (In press).

Keshavan, N; Rahman, S; (2018) Natural history of mitochondrial disorders: a systematic review. Essays In Biochemistry , 62 (3) pp. 423-442. 10.1042/EBC20170108. Green open access
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Klammt, J; Neumann, D; Gevers, EF; Andrew, SF; Schwartz, ID; Rockstroh, D; Colombo, R; ... Hwa, V; + view all (2018) Dominant-negative STAT5B mutations cause growth hormone insensitivity with short stature and mild immune dysregulation. Nature Communications , 9 (1) , Article 2105. 10.1038/s41467-018-04521-0. Green open access
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Kleine Holthaus, S-M; Ribeiro, J; Abelleira-Hervas, L; Pearson, RA; Duran, Y; Georgiadis, A; Sampson, RD; ... Ali, RR; + view all (2018) Prevention of Photoreceptor Cell Loss in a Cln6nclf Mouse Model of Batten Disease Requires CLN6 Gene Transfer to Bipolar Cells. Molecular Therapy , 26 (5) pp. 1343-1353. 10.1016/j.ymthe.2018.02.027. Green open access
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Koene, S; van Bon, L; Bertini, E; Jimenez-Moreno, C; van der Giessen, L; de Groot, I; McFarland, R; ... Smeitink, J; + view all (2018) Outcome measures for children with mitochondrial disease: consensus recommendations for future studies from a Delphi-based international workshop. Journal of Inherited Metabolic Disease , 41 (6) pp. 1267-1273. 10.1007/s10545-018-0229-5. Green open access
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Koriath, C; (2018) Predictors for a dementia gene mutation based on gene-panel next-generation sequencing of a large dementia referral series. Molecular Psychiatry 10.1038/s41380-018-0224-0. (In press). Green open access
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Lee, KKL; Peskett, E; Quinn, CM; Aiello, R; Adeeva, L; Moulding, DA; Stanier, P; (2018) Overexpression of Fgfr2c causes craniofacial bone hypoplasia and ameliorates craniosynostosis in the Crouzon mouse. Disease Models & Mechanisms 10.1242/dmm.035311. (In press). Green open access
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Lewis, C; Hill, M; Arthurs, OJ; Hutchinson, C; Chitty, LS; Sebire, N; (2018) Factors Affecting Uptake of Postmortem Examination in the Prenatal, Perinatal and Paediatric Setting; a Systematic Review. BJOG: An International Journal of Obstetrics and Gynaecology , 125 (2) pp. 172-181. 10.1111/1471-0528.14600. Green open access
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Lewis, C; Hill, M; Arthurs, OJ; Hutchinson, JC; Chitty, LS; Sebire, N; (2018) Health professionals’ and coroners’ views on less invasive perinatal and paediatric autopsy: a qualitative study. Archives of Disease in Childhood , 103 (6) pp. 572-578. 10.1136/archdischild-2017-314424. Green open access
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Lewis, C; Latif, Z; Hill, M; Riddington, M; Lakhanpaul, M; Arthurs, OJ; Hutchinson, JC; ... Sebire, NJ; + view all (2018) "We might get a lot more families who will agree": Muslim and Jewish perspectives on less invasive perinatal and paediatric autopsy. PLoS One , 13 (8) , Article e0202023. 10.1371/journal.pone.0202023. Green open access
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Little, D; Luft, C; Mosaku, O; Lorvellec, M; Yao, Z; Paillusson, S; Kriston-Vizi, J; ... Gissen, P; + view all (2018) A single cell high content assay detects mitochondrial dysfunction in iPSC-derived neurons with mutations in SNCA. Scientific Reports , 8 , Article 9033. 10.1038/s41598-018-27058-0. Green open access
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Ludtmann, MHR; Angelova, PR; Horrocks, MH; Choi, ML; Rodrigues, M; Baev, AY; Berezhnov, AV; ... Gandhi, S; + view all (2018) α-synuclein oligomers interact with ATP synthase and open the permeability transition pore in Parkinson's disease. Nature Communications , 9 , Article 2293. 10.1038/s41467-018-04422-2. Green open access
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Maldonado, EM; Fisher, CP; Mazzatti, DJ; Barber, AL; Tindall, MJ; Plant, NJ; Kierzek, AM; (2018) Multi-scale, whole-system models of liver metabolic adaptation to fat and sugar in non-alcoholic fatty liver disease. npj Systems Biology and Applications , 4 , Article 33. 10.1038/s41540-018-0070-3. Green open access
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Manea, E; Gissen, P; Pope, S; Heales, SJ; Batzios, S; (2018) Role of Intramuscular Levofolinate Administration in the Treatment of Hereditary Folate Malabsorption: Report of Three Cases. JIMD Reports , 39 pp. 7-12. 10.1007/8904_2017_39. Green open access
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Martin, C-A; Sarlós, K; Logan, CV; Thakur, RS; Parry, DA; Bizard, AH; Leitch, A; ... Jackson, AP; + view all (2018) Mutations in TOP3A Cause a Bloom Syndrome-like Disorder. American Journal of Human Genetics , 103 (2) pp. 221-231. 10.1016/j.ajhg.2018.07.001. Green open access
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Massaro, G; Mattar, CNZ; Wong, AMS; Sirka, E; Buckley, SMK; Herbert, BR; Karlsson, S; ... Rahim, AA; + view all (2018) Fetal gene therapy for neurodegenerative disease of infants. Nature Medicine , 24 pp. 1317-1323. 10.1038/s41591-018-0106-7. Green open access
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Mellis, R; Chandler, N; Chitty, LS; (2018) Next-generation sequencing and the impact on prenatal diagnosis. Expert Rev Mol Diagn 10.1080/14737159.2018.1493924. (In press). Green open access
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Meng, J; Muntoni, F; Morgan, J; (2018) CD133+cells derived from skeletal muscles of Duchenne muscular dystrophy patients have a compromised myogenic and muscle regenerative capability. Stem Cell Research , 30 pp. 43-52. 10.1016/j.scr.2018.05.004. Green open access
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Mestek-Boukhibar, L; Clement, E; Jones, WD; Drury, S; Ocaka, L; Gagunashvili, A; Le Quesne Stabej, P; ... Williams, HJ; + view all (2018) Rapid Paediatric Sequencing (RaPS): comprehensive real-life workflow for rapid diagnosis of critically ill children. Journal of Medical Genetics , 55 (11) pp. 721-728. 10.1136/jmedgenet-2018-105396. Green open access
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Morandi, G; Cerbone, M; Lamback, EB; Rapti, E; Dattani, MT; (2018) 45,X/46,XY Mosaicism Presenting With Isolated Unilateral Cryptorchidism and a Normal Blood Karyotype. The Journal of Clinical Endocrinology and Metabolism , 103 (6) pp. 2079-2082. 10.1210/jc.2017-02671. Green open access
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Morgan, JE; Prola, A; Mariot, V; Pini, V; Meng, J; Hourde, C; Dumonceaux, J; ... Bencze, M; + view all (2018) Necroptosis mediates myofibre death in dystrophin-deficient mice. Nature Communications , 9 , Article 3655. 10.1038/s41467-018-06057-9. Green open access
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Morgan, JE; Prola, A; Mariot, V; Pini, V; Meng, J; Hourde, C; Dumonceaux, J; ... Bencze, M; + view all (2018) Publisher Correction: Necroptosis Mediates Myofibre Death in Dystrophin-deficient Mice. [Corrigendum]. Nature Communications , 9 (1) , Article 4107. 10.1038/s41467-018-06636-w. Green open access
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Mujahid, S; Hunt, KF; Cheah, YS; Forsythe, E; Hazlehurst, JM; Sparks, K; Mohammed, S; ... McGowan, BM; + view all (2018) The Endocrine and Metabolic Characteristics of a Large Bardet-Biedl Syndrome Clinic Population. Journal of Clinical Endocrinology & Metabolism , 103 (5) pp. 1834-1841. 10.1210/jc.2017-01459. Green open access
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Murray, CE; Gami-Patel, P; Gkanatsiou, E; Brinkmalm, G; Portelius, E; Wirths, O; Heywood, W; ... Lashley, T; + view all (2018) The presubiculum is preserved from neurodegenerative changes in Alzheimer's disease. Acta Neuropathologica Communications , 6 , Article 62. 10.1186/s40478-018-0563-8. Green open access
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Murthy, AS; Kinsler, V; (2018) White scarlike lesions in a female infant with bilious emesis and sixth nerve palsy. Pediatric Dermatology , 35 (2) pp. 242-243. 10.1111/pde.13403. Green open access
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Papandreou, A; Rahman, S; Fratter, C; Ng, J; Meyer, E; Carr, LJ; Champion, M; ... Kurian, MA; + view all (2018) Spectrum of movement disorders and neurotransmitter abnormalities in paediatric POLG disease. Journal of Inherited Metabolic Disease , 41 (6) pp. 1275-1283. 10.1007/s10545-018-0227-7. Green open access
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Pastor, VB; Sahoo, S; Boklan, J; Schwabe, GC; Saribeyoglu, E; Strahm, B; Lebrecht, D; ... Wlodarski, MW; + view all (2018) Constitutional SAMD9L mutations cause familial myelodysplastic syndrome and transient monosomy 7. Haematologica , 103 (3) pp. 427-437. 10.3324/haematol.2017.180778. Green open access
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Persani, L; Brabant, G; Dattani, M; Bonomi, M; Feldt-Rasmussen, U; Fliers, E; Gruters, A; ... van Trotsenburg, ASP; + view all (2018) 2018 European Thyroid Association (ETA) Guidelines on the Diagnosis and Management of Central Hypothyroidism. European Thyroid Journal , 7 (5) pp. 225-237. 10.1159/000491388. Green open access
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Piper, CJM; Wilkinson, MGL; Deakin, CT; Otto, GW; Dowle, S; Duurland, CL; Adams, S; ... Marques, R; + view all (2018) CD19+CD24hiCD38hi B Cells Are Expanded in Juvenile Dermatomyositis and Exhibit a Pro-Inflammatory Phenotype After Activation Through Toll-Like Receptor 7 and Interferon-α. Frontiers in Immunology , 9 , Article 1372. 10.3389/fimmu.2018.01372. Green open access
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Plumptre, I; Stuart, G; Cerullo, A; Kinsler, VA; (2018) Sedation for screening MRI in patients with congenital melanocytic naevi under the age of one is a successful, safe and economical first-line approach. [Letter]. British Journal of Dermatology 10.1111/bjd.17263. (In press). Green open access
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Polubothu, S; Glover, M; Holder, S; Kinsler, V; (2018) Uniparental disomy as a mechanism for CERS3‐mutated autosomal recessive congenital ichthyosis. [Letter]. British Journal of Dermatology , 179 (5) pp. 1214-1215. 10.1111/bjd.16999. Green open access
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Portnoi, M-F; Dumargne, M-C; Rojo, S; Witchel, SF; Duncan, AJ; Eozenou, C; Bignon-Topalovic, J; ... Bashamboo, A; + view all (2018) Mutations involving the SRY-related gene SOX8 are associated with a spectrum of human reproductive anomalies. Human Molecular Genetics , 27 (7) pp. 1228-1240. 10.1093/hmg/ddy037. Green open access
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Prete, FP; Abdel-Aziz, T; Morkane, C; Brain, C; Kurzawinski, TR; MEN2 in Children UK Collaborative Group; (2018) Prophylactic thyroidectomy in children with multiple endocrine neoplasia type 2. British Journal of Surgery , 105 (10) pp. 1319-1327. 10.1002/bjs.10856. Green open access
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Rahman, J; Rahman, S; (2018) Mitochondrial medicine in the omics era. The Lancet , 391 (10139) pp. 2560-2574. 10.1016/S0140-6736(18)30727-X. Green open access
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Rahman, S; (2018) Mitochondrial diseases and status epilepticus. Epilepsia , 59 (S2) pp. 70-77. 10.1111/epi.14485. Green open access
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Rahman, S; Copeland, WC; (2018) POLG-related disorders and their neurological manifestations. [Review]. Nature Reviews Neurology , 15 pp. 40-52. 10.1038/s41582-018-0101-0. Green open access
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Raman, S; Chentouf, L; DeVile, C; Peters, MJ; Rahman, S; (2018) Near infrared spectroscopy with a vascular occlusion test as a biomarker in children with mitochondrial and other neuro-genetic disorders. PLoS One , 13 (7) , Article e0199756. 10.1371/journal.pone.0199756. Green open access
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Renkema, KY; Giles, RH; Lilien, MR; Beales, PL; Roepman, R; Oud, MM; Arts, HH; (2018) The KOUNCIL Consortium: From Genetic Defects to Therapeutic Development for Nephronophthisis. Frontiers in Pediatrics , 6 , Article 131. 10.3389/fped.2018.00131. Green open access
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Rogerson, C; Gissen, P; (2018) VPS33B and VIPAR are essential for epidermal lamellar body biogenesis and function. Biochimica et Biophysica Acta - Molecular Basis of Disease , 1864 (5(A)) pp. 1609-1621. 10.1016/j.bbadis.2018.01.028. Green open access
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Rosales, A; Mhibik, M; Gissen, P; Segarra, O; Redecillas, S; Ariceta, G; (2018) Severe renal Fanconi and management strategies in Arthrogryposis-Renal dysfunction-Cholestasis syndrome: a case report. BMC Nephrology , 19 , Article 144. 10.1186/s12882-018-0926-1. Green open access
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Sama, S; Woith, E; Walther, W; Jerz, G; Chen, W; Hart, S; Melzig, MF; (2018) Targeted suicide gene transfections reveal promising results in nu/nu mice with aggressive neuroblastoma. Journal of Controlled Release , 275 pp. 208-216. 10.1016/j.jconrel.2018.02.031. Green open access
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Sanderson, SC; Lewis, C; Patch, C; Hill, M; Bitner-Glindzicz, M; Chitty, LS; (2018) Opening the "black box" of informed consent appointments for genome sequencing: a multisite observational study. Genetics in Medecine , 21 pp. 1083-1091. 10.1038/s41436-018-0310-3. Green open access
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Sanderson, SC; Loe, BS; Freeman, M; Gabriel, C; Stevenson, DC; Gibbons, C; Chitty, L; (2018) Development of the Knowledge of Genome Sequencing (KOGS) questionnaire. Patient Education and Counseling , 101 (11) pp. 1966-1972. 10.1016/j.pec.2018.07.011. Green open access
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Sarangi, GK; Romagné, F; Castellano, S; (2018) Distinct patterns of selection in selenium-dependent genes between land and aquatic vertebrates. Molecular Biology and Evolution , 35 (7) pp. 1744-1756. 10.1093/molbev/msy070. Green open access
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Schulz, A; Ajayi, T; Specchio, N; de Los Reyes, E; Gissen, P; Ballon, D; Dyke, JP; ... Kohlschutter, A; + view all (2018) Study of Intraventricular Cerliponase Alfa for CLN2 Disease. New England Journal of Medicine , 378 (20) pp. 1898-1907. 10.1056/NEJMoa1712649. Green open access
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Schwartzentruber, J; Foskolou, S; Kilpinen, H; Rodrigues, J; Alasoo, K; Knights, AJ; Patel, M; ... HIPSCI Consortium; + view all (2018) Molecular and functional variation in iPSC-derived sensory neurons. Nature Genetics , 50 pp. 54-61. 10.1038/s41588-017-0005-8. Green open access
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Scietti, L; Chiapparino, A; De Giorgi, F; Fumagalli, M; Khoriauli, L; Nergadze, S; Basu, S; ... Forneris, F; + view all (2018) Molecular architecture of the multifunctional collagen lysyl hydroxylase and glycosyltransferase LH3. Nature Communications , 9 , Article 3163. 10.1038/s41467-018-05631-5. Green open access
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Scietti, L; Chiapparino, A; De Giorgi, F; Fumagalli, M; Khoriauli, L; Nergadze, S; Basu, S; ... Forneris, F; + view all (2018) Molecular architecture of the multifunctional collagen lysyl hydroxylase and glycosyltransferase LH3 (vol 9, 3163, 2018). Nature Communications , 9 , Article 3912. 10.1038/s41467-018-06481-x. Green open access
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Seker Yilmaz, B; Mungan, NO; Kor, D; Bulut, D; Seydaoglu, G; Öktem, M; Ceylaner, S; (2018) Twenty-seven mutations with three novel pathologenic variants causing biotinidase deficiency: a report of 203 patients from the southeastern part of Turkey. Journal of Pediatric Endocrinology and Metabolism , 31 (3) pp. 339-343. 10.1515/jpem-2017-0406. Green open access
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Shoemark, A; Burgoyne, T; Kwan, R; Dixon, M; Patel, MP; Rogers, AV; Onoufriadis, A; ... Hogg, C; + view all (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. Green open access
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Solanky, N; Ishida, M; Aléman-Charlet, C; Abu-Amero, S; Alders, M; Alvizi, L; Baird, W; ... Hennekam, RC; + view all (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. Green open access
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Spanos, C; Maldonado, EM; Fisher, CP; Leenutaphong, P; Oviedo-Orta, E; Windridge, D; Salguero, FJ; ... Moore, JB; + view all (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. Green open access
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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 (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. Green open access
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Stone, TJ; Keeley, A; Virasami, A; Harkness, W; Tisdall, M; Izquierdo Delgado, E; Gutteridge, A; ... Jacques, TS; + view all (2018) Comprehensive molecular characterisation of epilepsy-associated glioneuronal tumours. Acta Neuropathologica , 135 (1) pp. 115-129. 10.1007/s00401-017-1773-z. Green open access
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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. Green open access
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Suff, N; Karda, R; Antinao Diaz, J; Ng, J; Baruteau, J; Perocheau, D; Tangney, M; ... Waddington, SN; + view all (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. Green open access
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Tachner, M; Lorentzen, A; Maurao, A; Collins, T; Freke, G; Moulding, D; Bsquin, J; ... Lorentzen, E; + view all (2018) Crystal structure of intraflagellar transport protein 80 reveals a homo-dimer required for ciliogenesis. eLife , 7 , Article e33067. 10.7554/eLife.33067. Green open access
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Tagalakis, AD; Munye, MM; Ivanova, R; Chen, H; Smith, CM; Aldossary, AM; Rosa, LZ; ... Hart, SL; + view all (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. Green open access
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Thomas, AC; Heux, P; Santos, C; Arulvasan, W; Solanky, N; Carey, ME; Gerrelli, D; ... Etchevers, HC; + view all (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. Green open access
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Tranebjærg, L; Strenzke, N; Lindholm, S; Rendtorff, ND; Poulsen, H; Khandelia, H; Kopec, W; ... Bitner-Glindzicz, M; + view all (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. Green open access
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Tuijnenburg, P; Lango Allen, H; Burns, SO; Greene, D; Jansen, MH; Staples, E; Stephens, J; ... NIHR-BioResource – Rare Diseases Consortium, .; + view all (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. Green open access
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Verity, C; Winstone, AM; Will, R; Powell, A; Baxter, P; de Sousa, C; Gissen, P; ... Zuberi, S; + view all (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). Green open access
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Volpato, V; Smith, J; Sandor, C; Ried, JS; Baud, A; Handel, A; Newey, SE; ... Lakics, V; + view all (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. Green open access
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Whelan, CD; Altmann, A; Botía, JA; Jahanshad, N; Hibar, DP; Absil, J; Alhusaini, S; ... Sisodiya, SM; + view all (2018) Structural brain abnormalities in the common epilepsies assessed in a worldwide ENIGMA study. Brain , 141 (2) pp. 391-408. 10.1093/brain/awx341. Green open access
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Whitworth, J; Smith, PS; Martin, J-E; West, H; Luchetti, A; Rodger, F; Clark, G; ... Maher, ER; + view all (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. Green open access
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Zhang, M; Ferrari, R; Tartaglia, MC; Keith, J; Surace, EI; Wolf, U; Sato, C; ... International FTD-Genomics Consortium (IFGC), .; + view all (2018) A C6orf10/LOC101929163 locus is associated with age of onset in C9orf72 carriers. Brain , 141 (10) pp. 2895-2907. 10.1093/brain/awy238. Green open access
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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. Green open access
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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 (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. Green open access
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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 (2018) Genetic variability in response to Aβ deposition influences Alzheimer's risk. BioRxiv: Cold Spring Harbor, NY, USA. Green open access
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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. Green open access
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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. Green open access
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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). Green open access
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Davies, Rosalind Jane; (2018) Advancing our understanding of the ciliopathy, Bardet-Biedl Syndrome: an omics approach. Doctoral thesis (Ph.D), UCL (University College London). Green open access
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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). Green open access
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Fassad, Mahmoud Raafat; (2018) Novel Gene Discovery in Primary Ciliary Dyskinesia. Doctoral thesis (Ph.D), UCL (University College London). Green open access
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Karampetsou, Evangelia; (2018) A novel arrayCGH-based non-invasive prenatal test for common trisomies. Doctoral thesis (Ph.D), UCL (University College London). Green open access
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Maeshima, Ruhina; (2018) MYCN Silencing as Therapeutics for Neuroblastoma using RNA interference. Doctoral thesis (Ph.D), UCL (University College London). Green open access
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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). Green open access
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Riachi, Melissa; (2018) Understanding the Molecular and Genetic Basis of Complex Syndromes of Diabetes Mellitus. Doctoral thesis (Ph.D), UCL (University College London). Green open access
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This list was generated on Mon Apr 15 00:12:39 2024 BST.