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Number of items: 142.

A

Abril, JF; Castellano Hereza, S; (2019) Genome Annotation. In: Ranganathan, S and Gribskov, M and Schönbach, C, (eds.) Encyclopedia of Bioinformatics and Computational Biology. (pp. 195-209). Elsevier: Amsterdam, Netherlands.

Ali, SR; Bryce, J; Cools, M; Korbonits, M; Beun, JG; Taruscio, D; Danne, T; ... Ahmed, SF; + view all (2019) The current landscape of European registries for rare endocrine conditions. European Journal of Endocrinology , 180 (1) pp. 89-98. 10.1530/EJE-18-0861. Green open access
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Alkhidir, AAI; Holland, MJ; Elhag, WI; Williams, CA; Breuer, J; Elemam, AE; El Hussain, KMK; ... Pickering, H; + view all (2019) Whole-genome sequencing of ocular Chlamydia trachomatis isolates from Gadarif State, Sudan. Parasites and Vectors , 12 , Article 518. 10.1186/s13071-019-3770-7. Green open access
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Anderson, R; Rust, S; Ashworth, J; Clayton-Smith, J; Taylor, RL; Clayton, PT; Morris, AAM; (2019) Lathosterolosis: A Relatively Mild Case with Cataracts and Learning Difficulties. JIMD Reports , 44 pp. 79-84. 10.1007/8904_2018_127. Green open access
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B

Bacila, I; Adaway, J; Hawley, J; Mahdi, S; Krone, R; Patel, L; Alvi, S; ... Krone, N; + view all (2019) Measurement of Salivary Adrenal-Specific Androgens as Biomarkers of Therapy Control in 21-Hydroxylase Deficiency. The Journal of Clinical Endocrinology & Metabolism , 104 (12) pp. 6417-6429. 10.1210/jc.2019-00031. Green open access
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Baird, William; (2019) Genetic therapy for congenital melanocytic naevi. Doctoral thesis (Ph.D), UCL (University College London).

Balasubramaniam, S; Christodoulou, J; Rahman, S; (2019) Disorders of Riboflavin Metabolism. Journal of Inherited Metabolic Disease , 42 (4) pp. 608-619. 10.1002/jimd.12058. Green open access
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Bandres-Ciga, S; Ahmed, S; Sabir, MS; Blauwendraat, C; Adarmes-Gomez, AD; Bernal-Bernal, I; Bonilla-Toribio, M; ... Singleton, A; + view all (2019) The Genetic Architecture of Parkinson Disease in Spain: Characterizing Population-Specific Risk, Differential Haplotype Structures, and Providing Etiologic Insight. Movement Disorders 10.1002/mds.27864. (In press).

Bandres-Ciga, S; Saez-Atienzar, S; Bonet-Ponce, L; Billingsley, K; Vitale, D; Blauwendraat, C; Gibbs, JR; ... Singleton, AB; + view all (2019) The endocytic membrane trafficking pathway plays a major role in the risk of Parkinson's disease. Movement Disorders , 34 (4) pp. 460-468. 10.1002/mds.27614.

Barrell, WB; Griffin, JN; Harvey, J-L; Danovi, D; Beales, P; Grigoriadis, AE; Liu, KJ; (2019) Induction of Neural Crest Stem Cells From Bardet-Biedl Syndrome Patient Derived hiPSCs. Frontiers In Molecular Neuroscience , 12 , Article 139. 10.3389/fnmol.2019.00139. Green open access
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Baruteau, J; Diez-Fernandez, C; Lerner, S; Ranucci, G; Gissen, P; Dionisi-Vici, C; Nagamani, S; ... Häberle, J; + view all (2019) Argininosuccinic aciduria: Recent pathophysiological insights and therapeutic prospects. Journal of Inherited Metabolic Disease , 42 (6) pp. 1147-1161. 10.1002/jimd.12047. Green open access
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Baruteau, J; Khalil, Y; Grunewald, S; Zancolli, M; Chakrapani, A; Cleary, M; Davison, J; ... Mills, P; + view all (2019) Urea Cycle Related Amino Acids Measured in Dried Bloodspots Enable Long-Term In Vivo Monitoring and Therapeutic Adjustment. Metabolites , 9 (11) , Article 275. 10.3390/metabo9110275. Green open access
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Baruteau, J; Waddington, SN; (2019) Fetal gene therapy for neurodegenerative lysosomal storage diseases. Journal of Inherited Metabolic Disease , 42 (3) pp. 391-393. 10.1002/jimd.12018. Green open access
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Baud, A; Heywood, WE; Little, D; Gissen, P; Mills, K; (2019) Preparation of iPSCs for Targeted Proteomic Analysis. Cell-Based Assays Using iPSCs for Drug Development and Testing , 1994 pp. 131-139. 10.1007/978-1-4939-9477-9_11. Green open access
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Baud, A; Little, D; Wen, TQ; Heywood, WE; Gissen, P; Mills, K; (2019) An Optimized Method for the Proteomic Analysis of Low Volumes of Cell Culture Media and the Secretome: The Application and the Demonstration of Altered Protein Expression in iPSC-Derived Neuronal Cell Lines from Parkinson’s Disease Patients. Journal of Proteome Research , 18 (3) pp. 1198-1207. 10.1021/acs.jproteome.8b00831. Green open access
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Bax, BE; Levene, M; Bain, MD; Fairbanks, LD; Filosto, M; Kalkan Uçar, S; Klopstock, T; ... Nirmalananthan, N; + view all (2019) Erythrocyte Encapsulated Thymidine Phosphorylase for the Treatment of Patients with Mitochondrial Neurogastrointestinal Encephalomyopathy: Study Protocol for a Multi-Centre, Multiple Dose, Open Label Trial. MDPI — JCM , 8 (8) , Article 1096. 10.3390/jcm8081096. Green open access
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Bayat, A; Knaus, A; Juul, AW; Dukic, D; Gardella, E; Charzewska, A; Clement, E; ... DDD Study Group, .; + view all (2019) PIGT-CDG, a disorder of the glycosylphosphatidylinositol anchor: description of 13 novel patients and expansion of the clinical characteristics. Genetics in Medicine , 21 pp. 2216-2223. 10.1038/s41436-019-0512-3. Green open access
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Berkovic, SF; Oliver, KL; Canafoglia, L; Krieger, P; Damiano, JA; Hildebrand, MS; Morbin, M; ... Carpenter, S; + view all (2019) Kufs disease due to mutation of CLN6: clinical, pathological and molecular genetic features. Brain , 142 (1) pp. 59-69. 10.1093/brain/awy297. Green open access
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Bevan, D; White, A; Marshall, J; Peckham, C; (2019) Modelling the effect of the introduction of antenatal screening for group B Streptococcus (GBS) carriage in the UK. BMJ Open , 9 (3) , Article e024324. 10.1136/bmjopen-2018-024324. Green open access
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Biebermann, H; Kleinau, G; Schnabel, D; Bockenhauer, D; Wilson, LC; Tully, I; Kiff, S; ... Grüters, A; + view all (2019) A new multi-system disorder caused by the Gαs mutation p.F376V. The Journal of Clinical Endocrinology & Metabolism , 104 (4) pp. 1079-1089. 10.1210/jc.2018-01250. Green open access
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Billingsley, KJ; Barbosa, IA; Bandrés-Ciga, S; Quinn, JP; Bubb, VJ; Deshpande, C; Botia, JA; ... Koks, S; + view all (2019) Mitochondria function associated genes contribute to Parkinson's Disease risk and later age at onset. npj Parkinson's Disease , 5 , Article 8. 10.1038/s41531-019-0080-x. Green open access
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Bolduc, V; Foley, AR; Solomon-Degefa, H; Sarathy, A; Donkervoort, S; Hu, Y; Chen, GS; ... Bönnemann, CG; + view all (2019) A recurrent COL6A1 pseudoexon insertion causes muscular dystrophy and is effectively targeted by splice-correction therapies. JCI Insight , 4 (6) 10.1172/jci.insight.124403. Green open access
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Bonham, LW; Steele, NZR; Karch, CM; Broce, I; Geier, EG; Wen, NL; Momeni, P; ... International FTD-Genomics Consortium (IFGC), .; + view all (2019) Genetic variation across RNA metabolism and cell death gene networks is implicated in the semantic variant of primary progressive aphasia. Scientific Reports , 9 , Article 10854. 10.1038/s41598-019-46415-1. Green open access
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Brial, F; Le Lay, A; Hedjazi, L; Tsang, T; Fearnside, JF; Otto, GW; Alzaid, F; ... Gauguier, D; + view all (2019) Systems Genetics of Hepatic Metabolome Reveals Octopamine as a Target for Non-Alcoholic Fatty Liver Disease Treatment. Scientific Reports , 9 , Article 3656. 10.1038/s41598-019-40153-0. Green open access
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Brown, JR; Roy, S; Shah, D; Williams, CA; Williams, R; Dunn, H; Hartley, J; ... Breuer, J; + view all (2019) Norovirus transmission dynamics in a paediatric hospital using full genome sequences. Clinical Infectious Diseases , 68 (2) pp. 222-228. 10.1093/cid/ciy438. Green open access
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Brown, L-AK; Ruis, C; Clark, I; Roy, S; Brown, JR; Albuquerque, AS; Patel, SY; ... Lowe, DM; + view all (2019) A comprehensive characterization of chronic norovirus infection in immunodeficient hosts. Journal of Allergy and Clinical Immunology 10.1016/j.jaci.2019.07.036. (In press). Green open access
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Bugiardini, E; Pope, S; Feichtinger, RG; Poole, OV; Pittman, AM; Woodward, CE; Heales, S; ... Pitceathly, RDS; + view all (2019) Utility of Whole Blood Thiamine Pyrophosphate Evaluation in TPK1-Related Diseases. Journal Of Clinical Medicine , 8 (7) , Article 991. 10.3390/jcm8070991. Green open access
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Buonocore, F; Clifford-Mobley, O; King, TFJ; Striglioni, N; Man, E; Suntharalingham, JP; del Valle, I; ... Achermann, JC; + view all (2019) Next generation sequencing reveals novel genetic variants (SRY, DMRT1, NR5A1, DHH, DHX37) in adults with 46,XY DSD. Journal of the Endocrine Society 10.1210/js.2019-00306. (In press). Green open access
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C

Cerbone, M; Clement, E; McClatchey, M; Dobbin, J; Gilbert, C; Keane, M; Boukhibar, L; ... Shah, P; + view all (2019) Sotos Syndrome Presenting with Neonatal Hyperinsulinaemic Hypoglycaemia, Extensive Thrombosis, and Multisystem Involvement. Hormone Research in Paediatrics , 2019 (92) pp. 64-70. 10.1159/000496545. Green open access
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Chandler, NJ; Ahlfors, H; Drury, S; Mellis, R; Hill, M; McKay, FJ; Collinson, C; ... Chitty, LS; + view all (2019) Noninvasive Prenatal Diagnosis for Cystic Fibrosis: Implementation, Uptake, Outcome, and Implications. Clinical Chemistry , 65 (11) 10.1373/clinchem.2019.305011. Green open access
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Chelban, V; Wilson, MP; Warman Chardon, J; Vandrovcova, J; Zanetti, MN; Zamba-Papanicolaou, E; Efthymiou, S; ... SYNaPS Study Group, .; + view all (2019) PDXK mutations cause polyneuropathy responsive to PLP supplementation. Annals of Neurology 10.1002/ana.25524. (In press). Green open access
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Chiesa, R; Standing, JF; Winter, R; Nademi, Z; Chu, J; Pinner, D; Kloprogge, F; ... Slatter, M; + view all (2019) Proposed therapeutic range of treosulfan in reduced toxicity pediatric allogeneic hematopoietic stem cell transplant conditioning: results from a prospective trial. Clinical Pharmacology & Therapeutics 10.1002/cpt.1715. (In press). Green open access
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Clayton, P; (2019) The effectiveness of correcting abnormal metabolic profiles. Journal of Inherited Metabolic Disease 10.1002/jimd.12139. (In press). Green open access
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Crow, Y; Keshavan, N; Barbet, JP; Bercu, G; Bondet, V; Boussard, C; Dedieu, N; ... Rahman, S; + view all (2019) Cardiac valve involvement in ADAR-related type I interferonopathy. Journal of Medical Genetics 10.1136/jmedgenet-2019-106457. (In press). Green open access
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Cudini, J; Roy, S; Houldcroft, CJ; Bryant, JM; Depledge, DP; Tutill, H; Veys, P; ... Breuer, J; + view all (2019) Human cytomegalovirus haplotype reconstruction reveals high diversity due to superinfection and evidence of within-host recombination. Proceedings of the National Academy of Sciences of the United States of America , 116 (12) pp. 5693-5698. 10.1073/pnas.1818130116. Green open access
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D

Dastamani, A; Güemes, M; Pitfield, C; Morgan, K; Rajab, M; Rottenburger, C; Bomanji, J; ... Shah, P; + view all (2019) The Use of a Long-Acting Somatostatin Analogue (Lanreotide) in Three Children with Focal Forms of Congenital Hyperinsulinaemic Hypoglycaemia. Hormone Research in Paediatrics , 91 (1) pp. 56-61. 10.1159/000491101. Green open access
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Dastamani, A; Malhorta, N; Güemes, M; Morgan, K; Rees, CM; Dattani, M; Shah, P; (2019) Post-Prandial Hyperinsulinaemic Hypoglycaemia after Oesophageal Surgery in Children. Hormone Research in Paediatrics , 91 (3) pp. 216-220. 10.1159/000491647. Green open access
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Dattani, MT; (2019) Letrozole: a new treatment for delayed puberty in boys? [Editorial comment]. The Lancet Child & Adolescent Health , 3 (2) pp. 60-62. 10.1016/S2352-4642(18)30405-X. Green open access
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Davison, J; Lemonde, H; Rahman, S; (2019) Inherited mitochondrial disease. [Review]. Paediatrics and Child Health , 29 (3) pp. 116-122. 10.1016/j.paed.2019.01.009. Green open access
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Deans, ZC; Allen, S; Jenkins, L; Khawaja, F; Gutowska-Ding, W; Patton, SJ; Chitty, LS; (2019) Ensuring high standards for the delivery of NIPT world-wide: Development of an international external quality assessment scheme. Prenatal Diagnosis 10.1002/pd.5438. (In press). Green open access
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Doykov, ID; Heywood, WE; Nikolaenko, V; Śpiewak, J; Hällqvist, J; Clayton, PT; Mills, P; ... Mills, K; + view all (2019) Rapid, proteomic urine assay for monitoring progressive organ disease in Fabry disease. Journal of Medical Genetics 10.1136/jmedgenet-2019-106030. (In press). Green open access
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Dufek, S; Cheshire, C; Levine, AP; Trompeter, RS; Issler, N; Stubbs, M; Mozere, M; ... Bockenhauer, D; + view all (2019) Genetic identification of two novel loci associated with steroid-sensitive nephrotic syndrome. Journal of the American Society of Nephrology , 30 (8) pp. 1375-1384. 10.1681/ASN.2018101054. Green open access
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E

Efthymiou, S; Salpietro, V; Malintan, N; Poncelet, M; Kriouile, Y; Fortuna, S; De Zorzi, R; ... Houlden, H; + view all (2019) Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination. Brain 10.1093/brain/awz248. (In press). Green open access
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F

Ferretti, L; Mellis, R; Chitty, LS; (2019) Update on the use of exome sequencing in the diagnosis of fetal abnormalities. European Journal of Medical Genetics , 62 (8) , Article 103663. 10.1016/j.ejmg.2019.05.002. Green open access
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Forny, P; Hochuli, M; Rahman, Y; Deheragoda, M; Weber, A; Baruteau, J; Grunewald, S; (2019) Liver neoplasms in methylmalonic aciduria: An emerging complication. Journal of Inherited Metabolic Disease , 42 (5) pp. 793-802. 10.1002/jimd.12143. Green open access
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Forsythe, Elizabeth; (2019) Understanding the phenotype and preparing for therapeutics in Bardet-Biedl syndrome. Doctoral thesis (Ph.D), UCL (University College London). Green open access
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Fu Md, S; Thompson PhD, CL; Ali, A; Wang PhD, W; Chapple PhD, P; Mitchison Phd, HM; Beales, PL; ... Knight PhD, MM; + view all (2019) Mechanical loading inhibits cartilage inflammatory signalling via an HDAC6 and IFT-dependent mechanism regulating primary cilia elongation. Osteoarthritis Cartilage 10.1016/j.joca.2019.03.003. (In press). Green open access
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Funkhouser, CH; Kinsler, VA; Frieden, IJ; (2019) Striking contiguous depigmentation across the lower limbs in piebaldism and its implications for understanding melanocytic migration and development. Pediatric Dermatology , 36 (4) pp. 511-513. 10.1111/pde.13831. Green open access
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G

Gagunashvili, AN; Ocaka, L; Kelberman, D; Munot, P; Bacchelli, C; Beales, PL; Ganesan, V; (2019) Novel missense variants in the RNF213 gene from a European family with Moyamoya disease. Human Genome Variation , 6 , Article 35. 10.1038/s41439-019-0066-6. Green open access
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Gardner, Emily; (2019) Anti-vaccine activism: agnotological dissent and epistemic harm. Masters thesis (M.Sc), UCL (University College London). Green open access
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Gardner, E; Bailey, M; Schulz, A; Aristorena, M; Miller, N; Mole, SE; (2019) Mutation update: Review of TPP1 gene variants associated with neuronal ceroid lipofuscinosis CLN2 disease. Human Mutation , 40 (11) pp. 1924-1938. 10.1002/humu.23860. Green open access
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Gault, EJ; Cole, TJ; Casey, S; Hindmarsh, PC; Betts, P; Dunger, DB; Donaldson, MDC; (2019) Effect of oxandrolone and timing of pubertal induction on final height in Turner syndrome: final analysis of the UK randomised placebo-controlled trial. Archives of Disease in Childhood 10.1136/archdischild-2019-317695. (In press). Green open access
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Gorman, KM; Meyer, E; Grozeva, D; Spinelli, E; McTague, A; Sanchis-Juan, A; Carss, KJ; ... Kurian, MA; + view all (2019) Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia. American Journal of Human Genetics , 104 (5) pp. 948-956. 10.1016/j.ajhg.2019.03.005. Green open access
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Gregory, LC; Ferreira, CB; Young-Baird, SK; Williams, HJ; Harakalova, M; van Haaften, G; Rahman, SA; ... Dattani, MT; + view all (2019) Impaired EIF2S3 function associated with a novel phenotype of X-linked hypopituitarism with glucose dysregulation. EBioMedicine 10.1016/j.ebiom.2019.03.013. (In press). Green open access
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Gregory, LC; Shah, P; Sanner, JRF; Arancibia, M; Hurst, J; Jones, WD; Spoudeas, H; ... Dattani, MT; + view all (2019) Mutations in MAGEL2 and L1CAM Are Associated With Congenital Hypopituitarism and Arthrogryposis. The Journal of Clinical Endocrinology & Metabolism , 104 (12) pp. 5737-5750. 10.1210/jc.2019-00631. Green open access
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Guelfi, Manuel Sebastian; (2019) Regulation of gene expression in human brain using transcriptome sequencing. Doctoral thesis (Ph.D), UCL (University College London). Green open access
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Guelfi, S; Botia, JA; Thom, M; Ramasamy, A; Perona, M; Stanyer, L; Martinian, L; ... Matarin, M; + view all (2019) Transcriptomic and genetic analyses reveal potential causal drivers for intractable partial epilepsy. Brain , 142 (6) pp. 1616-1630. 10.1093/brain/awz074. Green open access
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H

Hampton-O'Neil, LA; Severn, CE; Cross, SJ; Gurung, S; Nobes, CD; Toye, AM; (2019) Ephrin/Eph Receptor Interaction Facilitates Macrophage Recognition Of Differentiating Human Erythroblasts. Haematologica 10.3324/haematol.2018.215160. (In press). Green open access
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Haq, N; Schmidt-Hieber, C; Sialana, FJ; Ciani, L; Heller, JP; Stewart, M; Bentley, L; ... Christou-Savina, S; + view all (2019) Loss of Bardet-Biedl syndrome proteins causes synaptic aberrations in principal neurons. PLoS Biology , 17 (9) , Article e3000414. 10.1371/journal.pbio.3000414. Green open access
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Hart, SL; Walker, AJ; (2019) New Genetic Approaches to Treating Diseases of the Skin. In: Hoeger, PH and Kinsler, V and Yan, AC and Harper, J and Oranje, AP and Bodemer, C and Larralde, M and luk, D and Mendiratta, V and Purvis, D, (eds.) Harper's Textbook of Pediatric Dermatology, 2 Volume Set. Wiley-Blackwell (In press). Green open access
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Hart, SL; Walker, AJ; Harrison, PT; (2019) New genetic approaches to treating cystic fibrosis. In: Scherman, D, (ed.) Advanced Textbook on Gene Transfer, Gene Therapy and Genetic Pharmacology. World Scientific: London, UK.

Haworth, S; Shapland, CY; Hayward, C; Prins, BP; Felix, JF; Medina-Gomez, C; Rivadeneira, F; ... St Pourcain, B; + view all (2019) Low-frequency variation in TP53 has large effects on head circumference and intracranial volume. Nature Communications , 10 , Article 357. 10.1038/s41467-018-07863-x. Green open access
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Heywood, W; Doykov, I; Spiewak, J; Hallqvist, J; Mills, K; Nowak, A; (2019) Global glycosphingolipid analysis in urine and plasma of female Fabry disease patients. Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease , 1865 (10) pp. 2726-2735. 10.1016/j.bbadis.2019.07.005. Green open access
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Hill, M; Lewis, C; Riddington, M; Crowe, B; DeVile, C; David, AL; Semler, O; ... Chitty, LS; + view all (2019) Stakeholder views and attitudes towards prenatal and postnatal transplantation of fetal mesenchymal stem cells to treat Osteogenesis Imperfecta. European Journal of Human Genetics 10.1038/s41431-019-0387-4. (In press). Green open access
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Hill, M; Lewis, C; Riddington, M; Crowe, B; DeVile, C; Gotherstrom, C; Chitty, L; (2019) Exploring the impact of Osteogenesis Imperfecta on families: A mixed-methods systematic review. Disability and Health Journal , 12 (3) pp. 340-349. 10.1016/j.dhjo.2018.12.003. Green open access
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Holthaus, S-MK; Herranz-Martin, S; Massaro, G; Aristorena, M; Hoke, J; Hughes, MP; Maswood, R; ... Ali, RR; + view all (2019) Neonatal brain-directed gene therapy rescues a mouse model of neurodegenerative CLN6 Batten disease. Human Molecular Genetics , 28 (23) pp. 3867-3879. 10.1093/hmg/ddz210. Green open access
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Hong, Y; Nanthapisal, S; Omoyinmi, E; Olbrich, P; Neth, O; Speckmann, C; Lucena, JM; ... Brogan, P; + view all (2019) Secondary C1q Deficiency in Activated PI3Kδ Syndrome Type 2. Frontiers in Immunology , 10 , Article 2589. 10.3389/fimmu.2019.02589. Green open access
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Horga, A; Woodward, CE; Mills, A; Pareés, I; Hargreaves, IP; Brown, RM; Bugiardini, E; ... Hanna, MG; + view all (2019) Differential phenotypic expression of a novel PDHA1 mutation in a female monozygotic twin pair. Human Genetics 10.1007/s00439-019-02075-9. (In press). Green open access
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Hughes, CD; Choi, ML; Ryten, M; Hopkins, L; Drews, A; Botía, JA; Iljina, M; ... Klenerman, D; + view all (2019) Picomolar concentrations of oligomeric alpha-synuclein sensitizes TLR4 to play an initiating role in Parkinson's disease pathogenesis. Acta Neuropathologica , 137 (1) pp. 103-120. 10.1007/s00401-018-1907-y. Green open access
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Hutchinson, C; Shelmerdine, SC; Lewis, C; Parmenter, J; Simcock, IC; Ward, L; Ashworth, MT; ... Sebire, NJ; + view all (2019) Minimally invasive perinatal and pediatric autopsy with laparoscopically assisted tissue sampling: feasibility and experience of the MinImAL procedure. Ultrasound in Obstetrics & Gynecology , 54 (5) pp. 661-669. 10.1002/uog.20211. Green open access
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I

Ivanova, R; Benton, DCH; Munye, MM; Rangseesorranan, S; Hart, SL; Moss, GWJ; (2019) A Nanosensor Toolbox for Rapid, Label-Free Measurement of Airway Surface Liquid and Epithelial Cell Function. ACS Applied Materials and Interfaces 10.1021/acsami.8b14122. (In press). Green open access
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K

Keatley, K; Stromei-Cleroux, S; Wiltshire, T; Rajala, N; Burton, G; Holt, WV; Littlewood, DTJ; ... McGeehan, RE; + view all (2019) Integrated Approach Reveals Role of Mitochondrial Germ-Line Mutation F18L in Respiratory Chain, Oxidative Alterations, Drug Sensitivity, and Patient Prognosis in Glioblastoma. MDPI — IJMS , 20 (13) , Article 3364. 10.3390/ijms20133364. Green open access
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Kenny, Joanna; (2019) Genomics and Personalised Medicine: Diagnostics, Deep Phenotyping and Pharmacogenomics in Cohorts of Rare Disease Patients. Doctoral thesis (Ph.D), UCL (University College London). Green open access
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Kiff, S; Babb, C; Guemes, M; Dastamani, A; Gilbert, C; Flanagan, SE; Ellard, S; ... Shah, P; + view all (2019) Partial diazoxide responsiveness in a neonate with hyperinsulinism due to homozygous ABCC8 mutation. Endocrinology, Diabetes and Metabolism Case Reports , 2019 (1) 10.1530/EDM-18-0120. Green open access
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Kittler, NW; Mathes, EF; Kinsler, V; Frieden, IJ; (2019) The biker-glove pattern of congenital melanocytic nevi. Pediatric Dermatology , 36 (6) pp. 918-921. 10.1111/pde.13939. Green open access
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Kör, D; Şeker-Yılmaz, B; Bulut, FD; Kılavuz, S; Öktem, M; Ceylaner, S; Yıldızdaş, D; (2019) Clinical features of 27 Turkish Propionic acidemia patients with 12 novel mutations. The Turkish Journal of Pediatrics , 61 (3) pp. 330-336. 10.24953/turkjped.2019.03.003. Green open access
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Krieger, TG; Moran, CM; Frangini, A; Visser, WE; Schoenmakers, E; Muntoni, F; Clark, CA; ... Livesey, FJ; + view all (2019) Mutations in thyroid hormone receptor α1 cause premature neurogenesis and progenitor cell depletion in human cortical development. Proceedings of the National Academy of Sciences of the United States of America , 116 (45) pp. 22754-22763. 10.1073/pnas.1908762116. Green open access
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L

Lambert, JRA; Howe, SJ; Rahim, AA; Burke, DG; Heales, SJR; (2019) Inhibition of Mitochondrial Complex I Impairs Release of α-Galactosidase by Jurkat Cells. International Journal of Molecular Sciences , 20 (18) , Article 4349. 10.3390/ijms20184349. Green open access
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Lewis, C; Hutchinson, JC; Riddington, M; Hill, M; Arthurs, OJ; Fisher, J; Wade, A; ... Sebire, NJ; + view all (2019) Minimally invasive autopsy for fetuses and children based on a combination of post-mortem MRI and endoscopic examination: a feasibility study. Health Technology Assessment , 23 (46) 10.3310/hta23460. Green open access
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Lewis, C; Loe, BS; Sidey-Gibbons, C; Patch, C; Chitty, LS; Sanderson, SC; (2019) Development of a measure of genome sequencing knowledge for young people: The kids-KOGS. Clinical Genetics , 96 (5) pp. 411-417. 10.1111/cge.13607. Green open access
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Lewis, C; Riddington, M; Hill, M; Arthurs, OJ; Hutchinson, JC; Chitty, LS; Bevan, C; ... Sebire, NJ; + view all (2019) Availability of less invasive prenatal, perinatal and paediatric autopsy will improve uptake rates: a mixed‐methods study with bereaved parents. BJOG: An International Journal of Obstetrics & Gynaecology , 126 (6) pp. 745-753. 10.1111/1471-0528.15591. Green open access
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This list was generated on Mon Oct 14 03:11:41 2024 BST.