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Number of items: 121.

A

Abarrategi, A; Tornin, J; Martinez-Cruzado, L; Hamilton, A; Martinez-Campos, E; Rodrigo, JP; González, MV; ... Rodriguez, R; + view all (2016) Osteosarcoma: Cells-of-Origin, Cancer Stem Cells, and Targeted Therapies. Stem Cells International , 2016 , Article 3631764. 10.1155/2016/3631764. Green open access
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Adams, HHH; Hibar, DP; Chouraki, V; Stein, JL; Nyquist, PA; Renteria, ME; Trompet, S; ... Thompson, PM; + view all (2016) Novel genetic loci underlying human intracranial volume identified through genome-wide association. Nature Neuroscience , 19 (12) pp. 1569-1582. 10.1038/nn.4398. Green open access
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Aflatounian, M; Smith, H; Farahani, F; Tofighi Naeem, A; Straatman-Iwanowska, A; Zoghi, S; Khatri, U; ... Rezaei, N; + view all (2016) Novel VIPAS39 mutation in a syndromic patient with arthrogryposis, renal tubular dysfunction and intrahepatic cholestasis. European Journal of Medical Genetics , 59 (4) pp. 237-239. 10.1016/j.ejmg.2016.01.005. Green open access
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Ansari, M; Rainger, J; Hanson, IM; Williamson, KA; Sharkey, F; Harewood, L; Sandilands, A; ... FitzPatrick, DR; + view all (2016) Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie Syndrome. PLoS One , 11 (4) , Article e0153757. 10.1371/journal.pone.0153757. Green open access
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B

Bacchelli, C; Williams, HJ; (2016) Opportunities and technical challenges in next-generation sequencing for diagnosis of rare pediatric diseases. Expert Review of Molecular Diagnostics , 16 (10) pp. 1073-1082. 10.1080/14737159.2016.1222906. Green open access
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Banushi, B; Forneris, F; Straatman-Iwanowska, A; Strange, A; Lyne, A-M; Rogerson, C; Burden, JJ; ... Gissen, P; + view all (2016) Regulation of post-Golgi LH3 trafficking is essential for collagen homeostasis. Nature Communications , 7 , Article 12111. 10.1038/ncomms12111. Green open access
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Barrett, AN; Advani, HV; Chitty, LS; Su, LL; Biswas, A; Tan, WC; Hill, M; (2016) Evaluation of preferences of women and healthcare professionals in Singapore for implementation of noninvasive prenatal testing for Down syndrome. Singapore Medical Journal , 58 (6) pp. 298-310. 10.11622/smedj.2016114. Green open access
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Bashamboo, A; Donohoue, PA; Vilain, E; Rojo, S; Calvel, P; Seneviratne, SN; Buonocore, F; ... Achermann, JC; + view all (2016) A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development. Human Molecular Genetics , 25 (16) pp. 3446-3453. 10.1093/hmg/ddw186. Green open access
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Berkovic, SF; Staropoli, JF; Carpenter, S; Oliver, KL; Kmoch, S; Anderson, GW; Damiano, JA; ... ANCL Gene Discovery Consortium, .; + view all (2016) Diagnosis and misdiagnosis of adult neuronal ceroid lipofuscinosis (Kufs disease). Neurology , 87 (6) pp. 579-584. 10.1212/WNL.0000000000002943. Green open access
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Bettencourt, C; Forabosco, P; Wiethoff, S; Heidari, M; Johnstone, DM; Botía, JA; Collingwood, JF; ... Houlden, H; + view all (2016) Gene co-expression networks shed light into diseases of brain iron accumulation. Neurobiology of Disease , 87 pp. 59-68. 10.1016/j.nbd.2015.12.004. Green open access
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Bliss, E; Heywood, WE; Benatti, M; Sebire, NJ; Mills, K; (2016) An optimised method for the proteomic profiling of full thickness human skin. Biological Procedures Online , 18 , Article 15. 10.1186/s12575-016-0045-y. Gold open access
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Boldt, K; Van Reeuwijk, J; Lu, Q; Koutroumpas, K; Nguyen, TM; Texier, Y; Van Beersum, SE; ... UK10K Rare Diseases Group, ; + view all (2016) An organelle-specific protein landscape identifies novel diseases and molecular mechanisms. Nature Communications , 7 , Article 11491. 10.1038/ncomms11491. Green open access
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Brown, JR; Roy, S; Ruis, C; Yara Romero, E; Shah, D; Williams, R; Breuer, J; (2016) Norovirus whole genome sequencing by SureSelect target enrichment: a robust and sensitive method. Journal of Clinical Microbiology , 54 (10) pp. 2530-2537. 10.1128/JCM.01052-16. Green open access
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Brown, RE; (2016) Identification of genetic interactions in a S. pombe yeast model for juvenile CLN3 disease. Doctoral thesis , UCL (University College London). Green open access
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Buonocore, F; Achermann, JC; (2016) Human sex development: targeted technologies to improve diagnosis. Genome Biology , 17 , Article 257. 10.1186/s13059-016-1128-4. Green open access
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Butcher, RMR; Sokana, O; Jack, K; Macleod, CK; Marks, M; Kalae, E; Sui, L; ... Roberts, CH; + view all (2016) Correction: Low Prevalence of Conjunctival Infection with Chlamydia trachomatis in a Treatment-Naïve Trachoma-Endemic Region of the Solomon Islands. [Corrigendum]. PLoS Negl Trop Dis , 10 (10) , Article e0005051. 10.1371/journal.pntd.0005051. Green open access
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Butcher, RMR; Sokana, O; Jack, K; Macleod, CK; Marks, ME; Kalae, E; Sui, L; ... Roberts, CH; + view all (2016) Low Prevalence of Conjunctival Infection with Chlamydia trachomatis in a Treatment-Naive Trachoma-Endemic Region of the Solomon Islands. PLoS Neglected Tropical Diseases , 10 (9) , Article e0004863. 10.1371/journal.pntd.0004863. Green open access
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C

Captur, G; Ho, CY; Schlossarek, S; Kerwin, J; Mirabel, M; Wilson, R; Rosmini, S; ... Moon, JC; + view all (2016) The embryological basis of subclinical hypertrophic cardiomyopathy. Scientific Reports , 6 , Article 27714. 10.1038/srep27714. Green open access
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Castillo, SD; Tzouanacou, E; Zaw-Thin, M; Berenjeno, IM; Parker, VE; Chivite, I; Milà-Guasch, M; ... Vanhaesebroeck, B; + view all (2016) Somatic activating mutations in Pik3ca cause sporadic venous malformations in mice and humans. Science Translational Medicine , 8 (332) , Article 332ra43. 10.1126/scitranslmed.aad9982. Green open access
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Catapano, F; Zaharieva, I; Scoto, M; Marrosu, E; Morgan, J; Muntoni, F; Zhou, H; (2016) Altered Levels of MicroRNA-9,-206, and-132 in Spinal Muscular Atrophy and Their Response to Antisense Oligonucleotide Therapy. Molecular Therapy-Nucleic Acids , 5 , Article e331. 10.1038/mtna.2016.47. Green open access
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Chen, W; Kinsler, VA; Macmillan, D; Di, W-L; (2016) Tissue Kallikrein Inhibitors Based on the Sunflower Trypsin Inhibitor Scaffold - A Potential Therapeutic Intervention for Skin Diseases. PLOS ONE , 11 (11) 10.1371/journal.pone.0166268. Green open access
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Chitty, LS; David, AL; Gottschalk, I; Oepkes, D; Westgren, M; Götherström, C; Consortium, O; (2016) EP21.04: BOOSTB4: a clinical study to determine safety and efficacy of pre- and/or postnatal stem cell transplantation for treatment of osteogenesis imperfecta. Presented at: 26th World Congress on Ultrasound in Obstetrics and Gynecology, Rome, Italy. Green open access
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Chitty, LS; Wright, D; Hill, M; Verhoef, TI; Daley, R; Lewis, C; Mason, S; ... Morris, S; + view all (2016) Uptake, outcomes, and costs of implementing non-invasive prenatal testing for Down's syndrome into NHS maternity care: prospective cohort study in eight diverse maternity units. BMJ , 354 , Article i3426. 10.1136/bmj.i3426. Green open access
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Christie, D; Thompson, R; Sawtell, M; Allen, E; Cairns, J; Smith, F; Jamieson, E; ... Viner, RM; + view all (2016) Effectiveness of a structured educational intervention using psychological delivery methods in children and adolescents with poorly controlled type 1 diabetes: a cluster randomised controlled trial of the CASCADE intervention. BMJ Open Diabetes Research & Care , 4 (1) , Article e000165. 10.1136/bmjdrc-2015-000165. Green open access
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Cortina-Borja, M; Williams, D; Peckham, CS; Bailey, H; Thorne, C; (2016) Hepatitis C virus seroprevalence in pregnant women delivering live-born infants in North Thames, England in 2012. Epidemiology and Infection , 144 (3) pp. 627-634. 10.1017/S0950268815001557. Green open access
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D

Deas, E; Cremades, N; Angelova, PR; Ludtmann, MHR; Yao, Z; Chen, S; Horrocks, MH; ... Abramov, AY; + view all (2016) Alpha-Synuclein Oligomers Interact with Metal Ions to Induce Oxidative Stress and Neuronal Death in Parkinson's Disease. Antioxidants & Redox Signaling , 24 (7) pp. 376-391. 10.1089/ars.2015.6343. Green open access
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Domenice, S; Machado, AZ; Ferreira, FM; Ferraz-de-Souza, B; Lerario, AM; Lin, L; Nishi, MY; ... Mendonca, BB; + view all (2016) Wide spectrum of NR5A1-related phenotypes in 46,XY and 46,XX individuals. Birth Defects Research Part C-Embryo Today-Reviews , 108 (4) pp. 309-320. Green open access
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Dumas, M-E; Domange, C; Calderari, S; Martínez, AR; Ayala, R; Wilder, SP; Suárez-Zamorano, N; ... Gauguier, D; + view all (2016) Topological analysis of metabolic networks integrating co-segregating transcriptomes and metabolomes in type 2 diabetic rat congenic series. Genome Medicine , 8 , Article 101. 10.1186/s13073-016-0352-6. Green open access
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E

Eastlake, K; Heywood, W; Tracey-White, D; Moosajee, M; Mills, K; Banerjee, P; Charteris, D; ... Limb, A; + view all (2016) Comparative proteomic analysis between the degenerated human and zebrafish retina. Investigative Ophthalmology & Visual Science , 57 (12) , Article 2249. Green open access
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Eckert, SE; Chan, JZ-M; Houniet, D; PATHSEEK consortium, .; Breuer, J; Speight, G; (2016) Enrichment by hybridisation of long DNA fragments for Nanopore sequencing. Microbial Genomics , 2 (9) , Article e000087. 10.1099/mgen.0.000087. Green open access
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F

Faller, KM; Bras, J; Sharpe, SJ; Anderson, GW; Darwent, L; Kun-Rodrigues, C; Alroy, J; ... Guerreiro, RJ; + view all (2016) The Chihuahua dog: A new animal model for neuronal ceroid lipofuscinosis CLN7 disease? Journal of Neuroscience Research , 94 (4) pp. 339-347. 10.1002/jnr.23710. Green open access
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Ferrari, R; Forabosco, P; Vandrovcova, J; Botía, JA; Guelfi, S; Warren, JD; UK Brain Expression Consortium (UKBEC), ; ... Hardy, J; + view all (2016) Frontotemporal dementia: insights into the biological underpinnings of disease through gene co-expression network analysis. Molecular Neurodegeneration , 11 , Article 21. 10.1186/s13024-016-0085-4. Green open access
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Fietz, M; AlSayed, M; Burke, D; Cohen-Pfeffer, J; Cooper, JD; Dvořáková, L; Giugliani, R; ... Miller, N; + view all (2016) Diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease): Expert recommendations for early detection and laboratory diagnosis. Molecular Genetics and Metabolism , 119 (1-2) pp. 160-167. 10.1016/j.ymgme.2016.07.011. Green open access
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Franke, B; Stein, JL; Ripke, S; Anttila, V; Hibar, DP; van Hulzen, KJ; Arias-Vasquez, A; ... Sullivan, PF; + view all (2016) Genetic influences on schizophrenia and subcortical brain volumes: large-scale proof of concept. Nature Neuroscience , 19 (3) pp. 420-431. 10.1038/nn.4228. Green open access
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Franko, E; Wehner, T; Joly, O; Lowe, J; Porter, MC; Kenny, J; Thompson, A; ... Mead, S; + view all (2016) Quantitative EEG parameters correlate with the progression of human prion diseases. Journal of Neurology, Neurosurgery & Psychiatry , 87 (10) pp. 1061-1067. 10.1136/jnnp-2016-313501. Green open access
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G

Gagliano, SA; Pouget, JG; Hardy, J; Knight, J; Barnes, MR; Ryten, M; Weale, ME; (2016) Genomics implicates adaptive and innate immunity in Alzheimer's and Parkinson's diseases. Annals of Clinical and Translational Neurology , 3 (12) pp. 924-933. 10.1002/acn3.369. Green open access
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Gaston-Massuet, C; McCabe, MJ; Scagliotti, V; Young, RM; Carreno, G; Gregory, LC; Jayakody, SA; ... Martinez-Barbera, JP; + view all (2016) Transcription factor 7-like 1 is involved in hypothalamo-pituitary axis development in mice and humans. Proceedings of the National Academy of Sciences of the U S A 10.1073/pnas.1503346113. Green open access
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Greene, ND; Leung, KY; Gay, V; Burren, K; Mills, K; Chitty, LS; Copp, AJ; (2016) Inositol for the prevention of neural tube defects: a pilot randomised controlled trial. British Journal of Nutrition , 115 (6) pp. 974-983. 10.1017/S0007114515005322. Green open access
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Gregory, LC; Alatzoglou, KS; McCabe, MJ; Hindmarsh, PC; Saldanha, JW; Romano, N; Le Tissier, P; (2016) Partial Loss of Function of the GHRH Receptor Leads to Mild Growth Hormone Deficiency. Journal of Clinical Endocrinology and Metabolism , 101 (10) pp. 3608-3615. 10.1210/jc.2016-2254. Green open access
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Griffin, BH; Chitty, LS; Bitner-Glindzicz, M; (2016) The 100 000 Genomes Project: What it means for paediatrics. Archives of Disease in Childhood - Education and Practice , 102 pp. 105-107. 10.1136/archdischild-2016-311029. Green open access
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Guerreiro, RJ; Brown, R; Dian, D; de Goede, C; Bras, J; Mole, SE; (2016) Mutation of TBCK causes a rare recessive developmental disorder. Neurology: Genetics , 2 (3) , Article e76. 10.1212/NXG.0000000000000076. Green open access
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Guran, T; Buonocore, F; Saka, N; Ozbek, MN; Aycan, Z; Bereket, A; Bas, F; ... Achermann, JC; + view all (2016) Rare Causes of Primary Adrenal Insufficiency: Genetic and Clinical Characterization of a Large Nationwide Cohort. Journal of Clinical Endocrinology and Metabolism , 101 (1) pp. 284-292. 10.1210/jc.2015-3250. Green open access
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Güemes, M; Murray, PG; Brain, CE; Spoudeas, HA; Peters, CJ; Hindmarsh, PC; Dattani, MT; (2016) Management of Cushing syndrome in children and adolescents: experience of a single tertiary centre. European Journal of Pediatrics , 175 (7) pp. 967-976. 10.1007/s00431-016-2727-5. Green open access
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H

Hammond, SM; Hazell, G; Shabanpoor, F; Saleh, AF; Bowerman, M; Sleigh, JN; Meijboom, KE; ... Wood, MJ; + view all (2016) Systemic peptide-mediated oligonucleotide therapy improves long-term survival in spinal muscular atrophy. Proceedings of the National Academy of Sciences of the United States of America , 113 (39) pp. 10962-10967. 10.1073/pnas.1605731113. Green open access
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Heidari, M; Gerami, SH; Bassett, B; Graham, RM; Chua, ACG; Aryal, R; House, MJ; ... Milward, EA; + view all (2016) Pathological relationships involving iron and myelin may constitute a shared mechanism linking various rare and common brain diseases. Rare Diseases , 4 (1) , Article e1198458. 10.1080/21675511.2016.1198458. Green open access
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Heidari, M; Johnstone, DM; Bassett, B; Graham, RM; Chua, AC; House, MJ; Collingwood, JF; ... Milward, EA; + view all (2016) Brain iron accumulation affects myelin-related molecular systems implicated in a rare neurogenetic disease family with neuropsychiatric features. Molecular Psychiatry , 21 pp. 1599-1607. 10.1038/mp.2015.192. Green open access
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Heslegrave, A; Heywood, W; Paterson, R; Magdalinou, N; Svensson, J; Johansson, P; Ohrfelt, A; ... Zetterberg, H; + view all (2016) Increased cerebrospinal fluid soluble TREM2 concentration in Alzheimer's disease. Molecular Neurodegeneration , 11 , Article 3. 10.1186/s13024-016-0071-x. Green open access
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Heywood, WE; Baud, A; Bliss, E; Sirka, E; Schott, JM; Zetterberg, H; Galimberti, D; ... Mills, K; + view all (2016) A High Throughput, Multiplexed and Targeted Proteomic CSF Assay to Quantify Neurodegenerative Biomarkers and Apolipoprotein E Isoforms Status. Journal of Visualized Experiments , 116 , Article e54541. 10.3791/54541. Green open access
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Heywood, WE; Bliss, E; Mills, P; Yuzugulen, J; Carreno, G; Clayton, PT; Muntoni, F; ... Grunewald, S; + view all (2016) Global serum glycoform profiling for the investigation of dystroglycanopathies & Congenital Disorders of Glycosylation. Molecular Genetics and Metabolism Reports , 7 pp. 55-62. 10.1016/j.ymgmr.2016.03.002. Green open access
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Heywood, WE; Galimberti, D; Bliss, E; Sirka, E; Paterson, RW; Magdalinou, NK; Carecchio, M; ... Mills, K; + view all (2016) Identification of novel CSF biomarkers for neurodegeneration and their validation by a high-throughput multiplexed targeted proteomic assay (vol 10, 64, 2015). [Corrigendum]. Molecular Neurodegeneration , 11 , Article 20. 10.1186/s13024-016-0086-3. Green open access
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Heywood, WE; Pryce, J; Virasami, A; Preece, RL; Dezateux, C; Mills, K; Sebire, NJ; (2016) A rapid high throughput proteomic method based on profiling of proteolytic free peptides to assess post-delivery degradation of placental tissue. Placenta , 44 pp. 109-111. 10.1016/j.placenta.2016.04.014. Green open access
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Hill, M; Lewis, C; Chitty, LS; (2016) Stakeholder attitudes and needs regarding cell-free fetal DNA testing. Current Opinion in Obstetrics and Gynecology , 28 (2) pp. 125-131. 10.1097/GCO.0000000000000251. Green open access
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Hollak, CE; Biegstraaten, M; Baumgartner, MR; Belmatoug, N; Bembi, B; Bosch, A; Brouwers, M; ... Hagendijk, R; + view all (2016) Position statement on the role of healthcare professionals, patient organizations and industry in European Reference Networks. Orphanet Journal of Rare Diseases , 11 , Article 7. 10.1186/s13023-016-0383-5. Green open access
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Houldcroft, CJ; Breuer, J; Bryant, J; Depledge, D; Margetts, B; Simmonds, J; Nicolaou, S; ... PATHSEEK, .; + view all (2016) Detection of low frequency multi-drug resistance and novel putative maribavir resistance in immunocompromised paediatric patients with cytomegalovirus. Frontiers in Microbiology , 7 , Article 1317. 10.3389/fmicb.2016.01317. Green open access
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Huang-Doran, I; Tomlinson, P; Payne, F; Gast, A; Sleigh, A; Bottomley, W; Harris, J; ... Semple, RK; + view all (2016) Insulin resistance uncoupled from dyslipidemia due to C-terminal PIK3R1 mutations. JCI Insight , 1 (17) , Article e88766. 10.1172/jci.insight.88766. Green open access
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I

Ishida, M; (2016) New developments in Silver-Russell syndrome and implications for clinical practice. Epigenomics , 8 (4) pp. 563-580. 10.2217/epi-2015-0010. Green open access
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J

Jacobsen, MC; Dusart, PJ; Kotowicz, K; Bajaj-Elliott, M; Hart, SL; Klein, NJ; Dixon, GL; (2016) A critical role for ATF2 transcription factor in the regulation of E-selectin expression in response to non-endotoxin components of Neisseria meningitidis. Cellular Microbiology , 18 (1) pp. 66-79. 10.1111/cmi.12483. Green open access
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Jenkins, D; (2016) Hedgehog Signaling in Development and Disease. In: Bradshaw, R and Stahl, P, (eds.) Encyclopedia of Cell Biology. (pp. 76-85). Elsevier: London, UK.

Johnson, B; Lowe, GC; Futterer, J; Lordkipanidze, M; MacDonald, D; Simpson, MA; Sanchez-Guiu, I; ... Morgan, NV; + view all (2016) Whole exome sequencing identifies genetic variants in inherited thrombocytopenia with secondary qualitative function defects. Haematologica , 101 (10) pp. 1170-1179. 10.3324/haematol.2016.146316. Green open access
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K

Kaisaki, PJ; Otto, GW; Argoud, K; Collins, SC; Wallis, RH; Wilder, SP; Yau, AC; ... Gauguier, D; + view all (2016) Transcriptome Profiling in Rat Inbred Strains and Experimental Cross Reveals Discrepant Genetic Architecture of Genome-Wide Gene Expression. G3: Genes, Genomes, Genetics 10.1534/g3.116.033274. (In press). Green open access
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Kanabus, M; Fassone, E; Hughes, SD; Bilooei, SF; Rutherford, T; Donnell, MO; Heales, SJ; (2016) The pleiotropic effects of decanoic acid treatment on mitochondrial function in fibroblasts from patients with complex I deficient Leigh syndrome. Journal of Inherited Metabolic Disease , 39 (3) pp. 415-426. 10.1007/s10545-016-9930-4. Green open access
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Kanabus, MM; (2016) Development of a cell based system to investigate which Leigh syndrome patients could benefit from treatment with decanoic acid or ketone bodies. Doctoral thesis , UCL (University College London).

Karda, R; Perocheau, DP; Suff, N; Ng, J; Hughes, M; Rahim, AA; Buckley, SMK; ... Waddington, SN; + view all (2016) Generation of light-producing somatic-transgenic mice using adeno-associated virus vectors. In: Human Gene Therapy. November 2016, 27(11). (pp. A107-A108). Mary Ann Liebert, Inc Green open access
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Kinghorn, KJ; Groenke, S; Castillo-Quan, JI; Woodling, NS; Li, L; Sirka, E; Gegg, M; ... Partridge, L; + view all (2016) A Drosophila Model of Neuronopathic Gaucher Disease Demonstrates Lysosomal-Autophagic Defects and Altered mTOR Signalling and Is Functionally Rescued by Rapamycin. JOURNAL OF NEUROSCIENCE , 36 (46) pp. 11654-11670. 10.1523/JNEUROSCI.4527-15.2016. Green open access
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Kinsler, VA; Polubothu, S; Calonje, JE; Chong, WK; Thompson, D; Jacques, TS; Morrogh, D; (2016) Copy number abnormalities in new or progressive 'neurocutaneous melanosis' confirm it to be primary CNS melanoma. Acta Neuropathologica , 133 (2) pp. 329-331. 10.1007/s00401-016-1651-0. Green open access
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Kwok, A; McCarthy, D; Hart, SL; Tagalakis, AD; (2016) Systematic Comparisons of Formulations of Linear Oligolysine Peptides with siRNA and Plasmid DNA. Chemical Biology and Drug Design , 87 (5) pp. 747-763. 10.1111/cbdd.12709. Green open access
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L

Lake, NJ; Compton, AG; Rahman, S; Thorburn, DR; (2016) Leigh syndrome: One disorder, more than 75 monogenic causes. Annals of Neurology , 79 (2) pp. 190-203. 10.1002/ana.24551. Green open access
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Lassalle, F; Depledge, DP; Reeves, MB; Brown, AC; Christiansen, MT; Tutill, HJ; Williams, RJ; ... Breuer, J; + view all (2016) Islands of linkage in an ocean of pervasive recombination reveals two-speed evolution of human cytomegalovirus genomes. Virus Evolution , 2 (1) , Article vew017. 10.1093/ve/vew017. Green open access
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Le Quesne Stabej, P; Williams, HJ; James, C; Tekman, M; Stanescu, HC; Kleta, R; Ocaka, L; ... GOSgene, ; + view all (2016) STAG3 truncating variant as the cause of primary ovarian insufficiency. European Journal of Human Genetics , 24 (1) pp. 135-138. 10.1038/ejhg.2015.107. Green open access
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Leon, LJ; Solanky, N; Stalman, SE; Demetriou, C; Abu-Amero, S; Stanier, P; Regan, L; (2016) A new biological and clinical resource for research into pregnancy complications: The Baby Bio Bank. Placenta , 46 pp. 31-37. 10.1016/j.placenta.2016.08.085. Green open access
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Lewis, C; Hill, M; Chitty, LS; (2016) A qualitative study looking at informed choice in the context of non-invasive prenatal testing for aneuploidy. Prenatal Diagnosis , 36 (9) pp. 875-881. 10.1002/pd.4879. Green open access
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Liu, JY; Reeves, C; Diehl, B; Coppola, A; Al-Hajri, A; Hoskote, C; Al Mughairy, S; ... Thom, M; + view all (2016) Early lipofuscin accumulation in frontal lobe epilepsy. Annals of Neurology 10.1002/ana.24803. Green open access
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Lopez, RJ; Byrne, S; Vukcevic, M; Sekulic-Jablanovic, M; Xu, L; Brink, M; Alamelu, J; ... Jungbluth, H; + view all (2016) An RYR1 mutation associated with malignant hyperthermia is also associated with bleeding abnormalities. Science Signaling , 9 (435) , Article ra68. 10.1126/scisignal.aad9813. Green open access
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Lyne, A-M; (2016) Advances in statistical methodology and analysis in a study of ARC syndrome. Doctoral thesis , UCL (University College London). Green open access
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M

Maghsoudlou, P; Georgiades, F; Smith, H; Milan, A; Shangaris, P; Urbani, L; Loukogeorgakis, SP; ... De Coppi, P; + view all (2016) Optimization of liver decellularization maintains extracellular matrix micro-architecture and composition predisposing to effective cell seeding. PLOS One , 11 (5) , Article e0155324. 10.1371/journal.pone.0155324. Green open access
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Mangold, E; Böhmer, AC; Ishorst, N; Hoebel, AK; Gültepe, P; Schuenke, H; Klamt, J; ... Ludwig, KU; + view all (2016) Sequencing the GRHL3 Coding Region Reveals Rare Truncating Mutations and a Common Susceptibility Variant for Nonsyndromic Cleft Palate. American Journal of Human Genetics , 98 (4) pp. 755-762. 10.1016/j.ajhg.2016.02.013. Green open access
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Maria, M; Lamers, IJC; Schmidts, M; Ajmal, M; Jaffar, S; Ullah, E; Mustafa, B; ... Qamar, R; + view all (2016) Genetic and clinical characterization of Pakistani families with Bardet-Biedl syndrome extends the genetic and phenotypic spectrum. Scientific Reports , 6 , Article 34764. 10.1038/srep34764. Green open access
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Martins da Silva, V; Kinsler, V; (2016) Infantile haemangiomas do not occur more frequently in children with congenital melanocytic naevi. [Letter]. British Journal of Dermatology , 176 (2) pp. 510-511. 10.1111/bjd.14791. Green open access
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Marx-Berger, D; Milford, DV; Bandhakavi, M; Van't Hof, W; Kleta, R; Dattani, M; Bockenhauer, D; (2016) Tolvaptan is successful in treating inappropriate antidiuretic hormone secretion in infants. Acta Paediatrica , 105 (7) e334-e337. 10.1111/apa.13415. Green open access
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Mazzacuva, F; Mills, P; Mills, K; Camuzeaux, S; Gissen, P; Nicoli, E-R; Wassif, C; ... Clayton, PT; + view all (2016) Identification of novel bile acids as biomarkers for the early diagnosis of Niemann-Pick C disease. FEBS Letters , 590 (11) pp. 1651-1662. 10.1002/1873-3468.12196. Green open access
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McElreavey, K; Achermann, JC; (2016) Steroidogenic Factor-1 (SF-1, NR5A1) and
46,XX Ovotesticular Disorders of Sex Development:
One Factor, Many Phenotypes
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McKiernan, P; Ball, S; Santra, S; Foster, K; Fratter, C; Poulton, J; Craig, K; ... Taylor, RW; + view all (2016) Incidence of Primary Mitochondrial Disease in Children Presenting With Acute Liver Failure Under 2 Years of Age. Journal of Pediatric Gastroenterology and Nutrition , 63 (6) pp. 592-597. 10.1097/MPG.0000000000001345. Green open access
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Mead, S; Burnell, M; Lowe, J; Thompson, A; Lukic, A; Porter, MC; Carswell, C; ... Collinge, J; + view all (2016) Clinical Trial Simulations Based on Genetic Stratification and the Natural History of a Functional Outcome Measure in Creutzfeldt-Jakob Disease. JAMA Neurology , 73 (4) pp. 447-455. 10.1001/jamaneurol.2015.4885. Green open access
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Menezes, MP; Rahman, S; Bhattacharya, K; Clark, D; Christodoulou, J; Ellaway, C; Farrar, M; ... Ouvrier, R; + view all (2016) Neurophysiological profile of peripheral neuropathy associated with childhood mitochondrial disease. Mitochondrion , 30 pp. 162-167. 10.1016/j.mito.2016.07.014. Green open access
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Mills, PB; Darin, N; Reid, E; Prunetti, L; Samuelsson, L; Husain, RA; Wilson, M; ... Clayton, PT; + view all (2016) Mutations in PROSC Disrupt Cellular Pyridoxal Phosphate Homeostasis and Cause Vitamin B6-Dependent Epilepsy. American Journal of Human Genetics , 99 (6) pp. 1325-1337. 10.1016/j.ajhg.2016.10.011. Green open access
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Mukhtiar, K; Ibrahim, S; Tuschl, K; Mills, P; (2016) Hypermanganesemia with Dystonia, Polycythemia and Cirrhosis (HMDPC) due to mutation in the SLC30A10 gene. Brain and Development , 38 (9) pp. 862-865. 10.1016/j.braindev.2016.04.005. Green open access
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Munye, MM; Tagalakis, AD; Barnes, JL; Brown, RE; McAnulty, RJ; Howe, SJ; Hart, SL; (2016) Minicircle DNA Provides Enhanced and Prolonged Transgene Expression Following Airway Gene Transfer. Scientific Reports , 6 , Article 23125. 10.1038/srep23125. Green open access
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N

Ngoh, A; Bras, J; Guerreiro, R; Meyer, E; McTague, A; Dawson, E; Mankad, K; ... Kurian, MA; + view all (2016) RARS2 mutations in a sibship with infantile spasms. Epilepsia , 57 (5) e97-e102. 10.1111/epi.13358. Green open access
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Nicholas, AK; Jaleel, S; Lyons, G; Schoenmakers, E; Dattani, MT; Crowne, E; Bernhard, B; ... Schoenmakers, N; + view all (2016) Molecular spectrum of TSHβ subunit gene defects in central hypothyroidism in the UK and Ireland. Clinical Endocrinology , 86 (3) pp. 410-418. 10.1111/cen.13149. Green open access
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Nicholas, AK; Serra, EG; Cangul, H; Alyaarubi, S; Ullah, I; Schoenmakers, E; Deeb, A; ... Schoenmakers, N; + view all (2016) Comprehensive Screening of Eight Known Causative Genes in Congenital Hypothyroidism With Gland-in-Situ. The Journal of Clinical Endocrinology & Metabolism , 101 (12) pp. 4521-4531. 10.1210/jc.2016-1879. Green open access
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P

Paterson, RW; Heywood, WE; Heslegrave, AJ; Magdalinou, NK; Andreasson, U; Sirka, E; Bliss, E; ... Schott, JM; + view all (2016) A targeted proteomic multiplex CSF assay identifies increased malate dehydrogenase and other neurodegenerative biomarkers in individuals with Alzheimer's disease pathology. Translational Psychiatry , 6 , Article e952. 10.1038/tp.2016.194. Green open access
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Peters, C; Brooke, I; Heales, S; Ifederu, A; Langham, S; Hindmarsh, P; Cole, TJ; (2016) Defining the Newborn Blood Spot Screening Reference Interval for TSH: Impact of Ethnicity. Journal of Clinical Endocrinology & Metabolism , 101 (9) pp. 3445-3449. 10.1210/jc.2016-1822. Green open access
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Polubothu, S; Al-Olabi, L; Wilson, L; Chong, WK; Kinsler, VA; (2016) Extending the spectrum of AKT1 mosaicism - not just the Proteus syndrome. British Journal of Dermatology , 175 (3) pp. 612-614. 10.1111/bjd.14478. Green open access
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Ponnampalam, SN; (2016) A blood-based gene expression and signalling pathway analysis to differentiate between high and low grade gliomas. Doctoral thesis , UCL (University College London). Green open access
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Q

Quek, L; Otto, GW; Garnett, C; Lhermitte, L; Karamitros, D; Stoilova, B; Lau, I-J; ... Vyas, P; + view all (2016) Genetically distinct leukemic stem cells in human CD34(-) acute myeloid leukemia are arrested at a hemopoietic precursor-like stage. Journal of Experimental Medicine , 213 (8) pp. 1513-1535. 10.1084/jem.20151775. Green open access
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R

Rahman, S; Baumgartner, MR; Morava, E; Patterson, M; Peters, V; Zschocke, J; (2016) Peer review fraud—it’s not big and it’s not clever. Journal of Inherited Metabolic Disease , 39 (1) pp. 1-2. 10.1007/s10545-015-9905-x. Green open access
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Rajakulendran, S; Pitceathly, RD; Taanman, JW; Costello, H; Sweeney, MG; Woodward, CE; Jaunmuktane, Z; ... Rahman, S; + view all (2016) A Clinical, Neuropathological and Genetic Study of Homozygous A467T POLG-Related Mitochondrial Disease. PLoS One , 11 (1) , Article e0145500. 10.1371/journal.pone.0145500. Green open access
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Reid, ES; (2016) Cellular and molecular investigations of undiagnosed neurometabolic disorders. Doctoral thesis , UCL (University College London). Green open access
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Reid, ES; Papandreou, A; Drury, S; Boustred, C; Yue, WW; Wedatilake, Y; Beesley, C; ... Mills, PB; + view all (2016) Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. Brain , 139 (11) pp. 2844-2854. 10.1093/brain/aww221. Green open access
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Rogerson, C; Gissen, P; (2016) The CHEVI tethering complex: facilitating special deliveries. Journal of Pathology , 240 (3) pp. 249-252. 10.1002/path.4785. Green open access
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Ryan, NS; Nicholas, JM; Weston, PSJ; Liang, Y; Lashley, T; Guerreiro, R; Adamson, G; ... Fox, NC; + view all (2016) Clinical phenotype and genetic associations in autosomal dominant familial Alzheimer's disease: a case series. LANCET NEUROLOGY , 15 (13) pp. 1326-1335. 10.1016/S1474-4422(16)30193-4. Green open access
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S

Sadeghian, M; Mastrolia, V; Haddad, AR; Mosley, A; Mullali, G; Schiza, D; Sajic, M; ... Smith, KJ; + view all (2016) Mitochondrial dysfunction is an important cause of neurological deficits in an inflammatory model of multiple sclerosis. Scientific Reports , 6 , Article 33249. 10.1038/srep33249. Green open access
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Sintusek, P; Catapano, F; Angkathunkayul, N; Marrosu, E; Parson, SH; Morgan, JE; Muntoni, F; (2016) Histopathological Defects in Intestine in Severe Spinal Muscular Atrophy Mice Are Improved by Systemic Antisense Oligonucleotide Treatment. PLOS One , 11 (5) , Article e0155032. 10.1371/journal.pone.0155032. Green open access
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Sudiwala, S; De Castro, SC; Leung, KY; Brosnan, JT; Brosnan, ME; Mills, K; Copp, AJ; (2016) Formate supplementation enhances folate-dependent nucleotide biosynthesis and prevents spina bifida in a mouse model of folic acid-resistant neural tube defects. Biochimie , 126 pp. 63-70. 10.1016/j.biochi.2016.02.010. Green open access
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Szunyogova, E; Zhou, H; Maxwell, GK; Powis, RA; Francesco, M; Gillingwater, TH; Parson, SH; (2016) Survival Motor Neuron (SMN) protein is required for normal mouse liver development. SCIENTIFIC REPORTS , 6 (ARTN 346) 10.1038/srep34635. Green open access
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T

Tagalakis, A; van Haasteren, J; Aldossary, A; Rosa, L; Munye, M; McCarthy, D; Hart, S; (2016) SiRNA and CRISPR/Cas9 Mediated Knockout of alpha ENAC. Molecular Therapy , 24 (Suppl 1) S11. 10.1016/S1525-0016(16)32832-5. Green open access
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The Gene Ontology Consortium, .; (2016) Expansion of the Gene Ontology knowledgebase and resources. Nucleic Acids Research , 45 (D1) D331-D338. 10.1093/nar/gkw1108. Green open access
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Thomas, AC; Zeng, Z; Rivière, JB; O'Shaughnessy, R; Al-Olabi, L; St-Onge, J; Atherton, DJ; ... Kinsler, VA; + view all (2016) Mosaic Activating Mutations in GNA11 and GNAQ Are Associated with Phakomatosis Pigmentovascularis and Extensive Dermal Melanocytosis. Journal of Investigative Dermatology , 136 (4) pp. 770-778. 10.1016/j.jid.2015.11.027. Green open access
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Townsend, CL; Francis, K; Peckham, CS; Tookey, PA; (2016) Syphilis screening in pregnancy in the United Kingdom, 2010-2011: a national surveillance study. BJOG: An International Journal of Obstetrics & Gynaecology 10.1111/1471-0528.14053. Green open access
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Tuschl, K; Meyer, E; Valdivia, LE; Zhao, N; Dadswell, C; Abdul-Sada, A; Hung, CY; ... Wilson, SW; + view all (2016) Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystonia. Nature Communications , 7 , Article 11601. 10.1038/ncomms11601. Green open access
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V

Valayannopoulos, V; Baruteau, J; Delgado, MB; Cano, A; Couce, ML; Del Toro, M; Donati, MA; ... Chakrapani, A; + view all (2016) Carglumic acid enhances rapid ammonia detoxification in classical organic acidurias with a favourable risk-benefit profile: A retrospective observational study. Orphanet Journal of Rare Diseases , 11 , Article 32. 10.1186/s13023-016-0406-2. Green open access
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Vanier, MT; Gissen, P; Bauer, P; Coll, MJ; Burlina, A; Hendriksz, CJ; Latour, P; ... Kolb, SA; + view all (2016) Diagnostic tests for Niemann-Pick disease type C (NP-C): A critical review. Molecular Genetics and Metabolism , 118 (4) pp. 244-254. 10.1016/j.ymgme.2016.06.004. Green open access
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Verhoef, TI; Daley, R; Vallejo-Torres, L; Chitty, LS; Morris, S; (2016) Time and travel costs incurred by women attending antenatal tests: A costing study. Midwifery , 40 pp. 148-152. 10.1016/j.midw.2016.06.013. Green open access
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Verhoef, TI; Hill, M; Drury, S; Mason, S; Jenkins, L; Morris, S; Chitty, LS; (2016) Non-invasive prenatal diagnosis (NIPD) for single gene disorders: cost analysis of NIPD and invasive testing pathways. Prenatal Diagnosis , 36 (7) pp. 636-642. 10.1002/pd.4832. Green open access
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Vilarinho, S; Sari, S; Mazzacuva, F; Bilgüvar, K; Esendagli-Yilmaz, G; Jain, D; Akyol, G; ... Lifton, RP; + view all (2016) ACOX2 deficiency: A disorder of bile acid synthesis with transaminase elevation, liver fibrosis, ataxia, and cognitive impairment. Proceedings of the National Academy of Sciences of the United States of America , 113 (40) pp. 11289-11293. 10.1073/pnas.1613228113. Green open access
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W

Wakeling, EL; Brioude, F; Lokulo-Sodipe, O; O'Connell, SM; Salem, J; Bliek, J; Canton, APM; ... Netchine, I; + view all (2016) Diagnosis and management of Silver-Russell syndrome: first international consensus statement. Nature Reviews Endocrinology , 13 (2) pp. 105-124. 10.1038/nrendo.2016.138. Green open access
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Waters, AM; Asfahani, R; Carroll, P; Bicknell, L; Lescai, F; Bright, A; Chanudet, E; ... Beales, PL; + view all (2016) Erratum: The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypes (vol 52, pg 147, 2015). Journal of Medical Genetics , 53 (12) p. 845. 10.1136/jmedgenet-2014-102691corr1. Green open access
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Wedatilake, Y; Niazi, R; Fassone, E; Powell, CA; Pearce, S; Plagnol, V; Saldanha, JW; ... Rahman, S; + view all (2016) TRNT1 deficiency: clinical, biochemical and molecular genetic features. Orphanet Journal of Rare Diseases , 11 (90) pp. 1-14. 10.1186/s13023-016-0477-0. Green open access
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Williams, HJ; Hurst, JR; Ocaka, L; James, C; Pao, C; Chanudet, E; Lescai, F; ... Beales, P; + view all (2016) The use of whole-exome sequencing to disentangle complex phenotypes. European Journal of Human Genetics , 24 (2) pp. 298-301. 10.1038/ejhg.2015.121. Green open access
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Y

Yu-Wai-Man, C; Tagalakis, AD; Manunta, MD; Hart, SL; Khaw, PT; (2016) Receptor-targeted liposome-peptide-siRNA nanoparticles represent an efficient delivery system for MRTF silencing in conjunctival fibrosis. Scientific Reports , 6 , Article 21881. 10.1038/srep21881. Green open access
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Z

Zschocke, J; Baumgartner, MR; Morava, E; Patterson, MC; Peters, V; Rahman, S; (2016) Recommendations and guidelines in the JIMD: suggested procedures and avoidance of conflicts of interest. Journal of Inherited Metabolic Disease , 39 (3) pp. 327-329. 10.1007/s10545-016-9931-3. Green open access
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This list was generated on Sun Apr 11 08:35:36 2021 BST.