UCL Discovery
UCL home » Library Services » Electronic resources » UCL Discovery

Browse by UCL Departments and Centres

Group by: Author | Type
Jump to: A | B | C | D | E | F | G | H | I | J | K | L | M | N | O | P | R | S | T | U | V | W | X | Y | Z
Number of items: 153.

A

Ades, AE; Soriano-Arandes, A; Alarcon, A; Bonfante, F; Thorne, C; Peckham, CS; Giaquinto, C; (2020) Vertical transmission of Zika virus and its outcomes: a Bayesian synthesis of prospective studies. The Lancet Infectious Diseases 10.1016/S1473-3099(20)30432-1. (In press). Green open access
file

Ades, AE; Thorne, C; Soriano-Arandes, A; Peckham, CS; Brown, DW; Lang, D; Morris, JG; ... Giaquinto, C; + view all (2020) Researching Zika in pregnancy: lessons for global preparedness. The Lancet Infectious Diseases , 20 (4) E61-E68. 10.1016/S1473-3099(20)30021-9. Green open access
file

Aguti, S; Bolduc, V; Ala, P; Turmaine, M; Bönnemann, CG; Muntoni, F; Zhou, H; (2020) Exon-Skipping Oligonucleotides Restore Functional Collagen VI by Correcting a Common COL6A1 Mutation in Ullrich CMD. Molecular Therapy - Nucleic Acids , 21 pp. 205-216. 10.1016/j.omtn.2020.05.029. Green open access
file

Alatzoglou, KS; Gregory, LC; Dattani, M; (2020) Development of the Pituitary Gland. Comprehensive Physiology , 10 (2) pp. 389-413. 10.1002/cphy.c150043. Green open access
file

Altmann, A; Cash, DM; Bocchetta, M; Heller, C; Reynolds, R; Moore, K; Convery, RS; ... Rohrer, JD; + view all (2020) Analysis of brain atrophy and local gene expression in genetic frontotemporal dementia. Brain Communications 10.1093/braincomms/fcaa122. (In press). Green open access
file

Angelova, PR; Choil, ML; Berezhnov, A; Horrocks, MH; Hughes, CD; De, S; Rodrigues, M; ... Gandhi, S; + view all (2020) Alpha synuclein aggregation drives ferroptosis: an interplay of iron, calcium and lipid peroxidation. Cell Death & Differentiation , 27 pp. 2781-2796. 10.1038/s41418-020-0542-z. Green open access
filefile

B

Balogh, E; Chandler, J; Varga, M; Tahoun, M; Menyhárd, DK; Schay, G; Goncalves, T; ... Tory, K; + view all (2020) Pseudouridylation defect due to DKC1 and NOP10 mutations causes nephrotic syndrome with cataracts, hearing impairment, and enterocolitis. Proceedings of the National Academy of Sciences of the United States of America , 117 (26) pp. 15137-15147. 10.1073/pnas.2002328117. Green open access
file

Baruteau, J; Gurung, S; Perocheau, D; Counsell, J; (2020) Gene therapy for inherited metabolic diseases. Journal of Mother and Child , 24 (2) 10.34763/jmotherandchild.20202402si.2004.000009. Green open access
file

Belsten, J; Werring, DJ; Jones, H; Heales, S; Pope, S; (2020) Cerebrospinal fluid folate, ascorbate, and tetrahydrobiopterin deficiency in superficial siderosis: A new potential mechanism of neurological dysfunction? Journal of the Neurological Sciences , 414 , Article 116856. 10.1016/j.jns.2020.116856. Green open access
file

Bilip, M; Shah, S; Mathiyalakan, M; Tagalakis, A; Hart, SL; Maeshima, R; Eaton, S; ... Stoker, AW; + view all (2020) Liposomal delivery of hydrophobic RAMBAs provides good bioavailability and significant enhancement of retinoic acid signalling in neuroblastoma tumour cells. Journal of Drug Targeting 10.1080/1061186X.2019.1710157. (In press). Green open access
file

Boyd, AC; Guo, S; Huang, L; Kerem, B; Oren, YS; Walker, AJ; Hart, SL; (2020) New approaches to genetic therapies for cystic fibrosis. Journal of Cystic Fibrosis , 19 (S1) S54-S59. 10.1016/j.jcf.2019.12.012. Green open access
file

Bryant, D; Seda, M; Peskett, E; Maurer, C; Pomeranz, G; Ghosh, M; Hawkins, TA; ... Stanier, P; + view all (2020) Diverse species-specific phenotypic consequences of loss of function sorting nexin 14 mutations. Scientific Reports , 10 (1) , Article 13763. 10.1038/s41598-020-70797-2. Green open access
file

Buonocore, F; Achermann, JC; (2020) Primary adrenal insufficiency: New genetic causes and their long-term consequences. [Review]. Clinical Endocrinology , 92 (1) pp. 11-20. 10.1111/cen.14109. Green open access
file

Buonocore, F; McGlacken-Byrne, SM; Del Valle, I; Achermann, JC; (2020) Current Insights Into Adrenal Insufficiency in the Newborn and Young Infant. Frontiers in Pediatrics , 8 , Article 619041. 10.3389/fped.2020.619041. Green open access
file

Burke, D; Heales, S; (2020) Differential activity of glucocerebrosidase in neurons and astrocytes; implications for evaluating tissue homogenates derived from Parkinson's disease brains. [Letter]. Journal of the Neurological Sciences , 418 , Article 117097. 10.1016/j.jns.2020.117097. Green open access
file

Butz, ES; Chandrachud, U; Mole, SE; Cotman, SL; (2020) Moving towards a new era of genomics in the neuronal ceroid lipofuscinoses. Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease , 1866 (9) , Article 165571. 10.1016/j.bbadis.2019.165571. Green open access
file

C

Captur, G; Heywood, WE; Coats, C; Rosmini, S; Patel, V; Lopes, LR; Collis, R; ... Mills, K; + view all (2020) Identification of a Multiplex Biomarker Panel for Hypertrophic Cardiomyopathy using Quantitative Proteomics and Machine Learning. Molecular & Cellular Proteomics , 19 (1) pp. 114-127. 10.1074/mcp.RA119.001586. Green open access
file

Cave, A; Plumptre, I; Mellerio, JE; Martinez, AE; Kinsler, VA; (2020) The adverse effect profile of acitretin in a pediatric dermatology population-Longitudinal cohort study and recommendations for monitoring. Journal of the American Academy of Dermatology 10.1016/j.jaad.2020.03.082. (In press). Green open access
file

Cerbone, M; Güemes, M; Wade, A; Improda, N; Dattani, M; (2020) Endocrine morbidity in midline brain defects: Differences between septo-optic dysplasia and related disorders. EClinicalMedicine 10.1016/j.eclinm.2019.11.017. (In press). Green open access
file

Chen, Z; Ryten, M; Houlden, H; (2020) Reply to: No evidence supports genetic heterogeneity of neuronal intranuclear inclusion disease. Annals of Clinical and Translational Neurology , 7 (12) pp. 2544-2545. 10.1002/acn3.51222. Green open access
file

Chen, Z; Yan Yau, W; Jaunmuktane, Z; Tucci, A; Sivakumar, P; Gagliano Taliun, SA; Turner, C; ... Houlden, H; + view all (2020) Neuronal intranuclear inclusion disease is genetically heterogeneous. Annals of Clinical and Translational Neurology , 7 (9) pp. 1716-1725. 10.1002/acn3.51151. Green open access
file

Chen, Y-H; Eskandarpour, M; Gondrand, A; Zhang, X; Gu, R; Galatowicz, G; Lightman, SL; (2020) Functionally distinct IFN-γ⁺ IL-17A⁺ Th cells in experimental autoimmune uveitis: T-cell heterogeneity, migration, and steroid response. European Journal of Immunology 10.1002/eji.202048616. (In press). Green open access
file

Clarke, M; Mackay, A; Ismer, B; Pickles, JC; Tatevossian, RG; Newman, S; Bale, TA; ... Jones, C; + view all (2020) Infant High-Grade Gliomas Comprise Multiple Subgroups Characterized by Novel Targetable Gene Fusions and Favorable Outcomes. Cancer Discovery , 10 (7) pp. 942-963. 10.1158/2159-8290.CD-19-1030. Green open access
file

Clayton, P; Tuschl, K; (2020) Metal Storage Disorders: Inherited Disorders of Copper and Manganese Metabolism and Movement Disorders. In: Ebrahimi-Fakhari, D and Pearl, P, (eds.) Movement Disorders and Inherited Metabolic Disorders: Recognition, Understanding, Improving Outcomes. (pp. 230-243). Cambridge University Press: Cambridge, UK. Green open access
file

Clayton, PT; (2020) Is susceptibility to severe COVID-19 disease an inborn error of metabolism? [Letter]. Journal of Inherited Metabolic Disease , 43 (5) pp. 906-907. 10.1002/jimd.12280. Green open access
file

Cooper, JD; Mole, SE; (2020) Future perspectives: What lies ahead for Neuronal Ceroid Lipofuscinosis research? Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease , 1866 (9) , Article 165681. 10.1016/j.bbadis.2020.165681. Green open access
file

Costa, B; Manzoni, C; Bernal-Quiros, M; Kia, D; Aguilar, M; Alvarez, I; Alvarez, V; ... Hardy, J; + view all (2020) C9orf72, age at onset, and ancestry help discriminate behavioral from language variants in FTLD cohorts. Neurology , 95 (24) e3288-e3302. 10.1212/WNL.0000000000010914. Green open access
file

COVID-19 Genomics UK (COG-UK); (2020) An integrated national scale SARS-CoV-2 genomic surveillance network. The Lancet Microbe , 1 (3) e99-e100. 10.1016/S2666-5247(20)30054-9. Green open access
file

Cuomo, ASE; Seaton, DD; McCarthy, DJ; Martinez, I; Bonder, MJ; Garcia-Bernardo, J; Amatya, S; ... Stegle, O; + view all (2020) Single-cell RNA-sequencing of differentiating iPS cells reveals dynamic genetic effects on gene expression. Nature Communications , 11 (1) p. 810. 10.1038/s41467-020-14457-z. Green open access
file

D

Dabbeek, J; Silva, V; Galasso, C; Smith, A; (2020) Probabilistic earthquake and flood loss assessment in the Middle East. International Journal of Disaster Risk Reduction , 49 , Article 101662. 10.1016/j.ijdrr.2020.101662. Green open access
file

De Vries, MC; Brown, DA; Allen, ME; Bindoff, L; Gorman, GS; Karaa, A; Keshavan, N; ... Mancuso, M; + view all (2020) Safety of drug use in patients with a primary mitochondrial disease: An international Delphi-based consensus. Journal of Inherited Metabolic Disease 10.1002/jimd.12196. (In press). Green open access
file

Doreste, B; Torelli, S; Morgan, J; (2020) Irradiation dependent inflammatory response may enhance satellite cell engraftment. Scientific Reports , 10 , Article 11119. 10.1038/s41598-020-68098-9. Green open access
file

Doykov, I; Hällqvist, J; Gilmour, KC; Grandjean, L; Mills, K; Heywood, WE; (2020) 'The long tail of Covid-19' - The detection of a prolonged inflammatory response after a SARS-CoV-2 infection in asymptomatic and mildly affected patients [version 1; peer review: awaiting peer review]. F1000Research , 9 , Article 1349. 10.12688/f1000research.27287.1. Green open access
file

E

Engel, J; Schwartz, E; Catlow, CRA; Roldan, A; (2020) The influence of oxygen vacancy and Ce3+ ion positions on the properties of small gold clusters supported on CeO2-x(111). Journal of Materials Chemistry A , 8 (31) pp. 15695-15705. 10.1039/d0ta01398f. Green open access
file

F

Fassad, MR; Shoman, WI; Morsy, H; Patel, MP; Radwan, N; Jenkins, L; Cullup, T; ... Fasseeh, N; + view all (2020) Clinical and genetic spectrum in 33 Egyptian families with suspected primary ciliary dyskinesia. Clinical Genetics , 97 (3) pp. 509-515. 10.1111/cge.13661. Green open access
file

Freeman, TM; Wang, D; Harris, J; Ambrose, JC; Arumugam, P; Baple, EL; Bleda, M; ... Zarowiecki, M; + view all (2020) Genomic loci susceptible to systematic sequencing bias in clinical whole genomes. Genome Research , 30 (3) pp. 415-426. 10.1101/gr.255349.119. Green open access
file

Freke, Grace Mercedes; (2020) Probing the Role(s) of Bbs1 with CRISPR/Cas9 Gene Editing. Doctoral thesis (Ph.D), UCL (University College London). Green open access
file

Fulop, N; Capelas Barbosa, E; Hill, M; Ledger, J; Ng, PL; Sherlaw-Johnson, C; Rolewicz, L; ... Morris, S; + view all (2020) Rapid Evaluation of the Special Measures for Quality and Challenged Provider Regimes: A Mixed-Methods Study. National Institute for Health Research: NIHR Journals Library. Green open access
file

Fulop, N; Capelas Barbosa, E; Hill, M; Ledger, J; Sherlaw-Johnson, C; Spencer, J; Vindrola, C; (2020) Special Measures for Quality and Challenged Providers: Study Protocol for Evaluating the Impact of Improvement Interventions in NHS Trusts. International Journal of Health Policy and Management , 9 (4) pp. 143-151. 10.15171/ijhpm.2019.100. Green open access
file

G

Galazzi, E; Improda, N; Cerbone, M; Soranna, D; Moro, M; Fatti, LM; Zambon, A; ... Persani, L; + view all (2020) Clinical benefits of sex steroids given as a priming prior to GH provocative test or as a growth promoting therapy in peripubertal growth delays: results of a retrospective study among ENDO-ERN centers. Clinical Endocrinology 10.1111/cen.14337. (In press). Green open access
file

Gao, E; Cheema, H; Waheed, N; Mushtaq, I; Erden, N; Nelson-Williams, C; Jain, D; ... Vilarinho, S; + view all (2020) OSTα deficiency: A disorder with cholestasis, liver fibrosis and congenital diarrhea. Hepatology , 71 (5) pp. 1879-1882. 10.1002/hep.31087. Green open access
file

Gao, Y; Wang, T; Yu, X; International FTD-Genomics Consortium (IFGC); Zhao, H; Zeng, P; (2020) Mendelian randomization implies no direct causal association between leukocyte telomere length and amyotrophic lateral sclerosis. Scientific Reports , 10 , Article 12184. 10.1038/s41598-020-68848-9. Green open access
file

Gardner, LE; Horton, KL; Shoemark, A; Lucas, JS; Nielsen, KG; Kobbernagel, H; Rubbo, B; ... Hogg, C; + view all (2020) Proceedings of the 4th BEAT-PCD Conference and 5th PCD Training School. In: BMC Proceedings. Springer Nature: Poznań, Poland. Green open access
file

Ghosh, R; Wood-Kaczmar, A; Dobson, L; Smith, EJ; Sirinathsinghji, EC; Kriston-Vizi, J; Hargreaves, IP; ... Tabrizi, SJ; + view all (2020) Expression of mutant exon 1 huntingtin fragments in human neural stem cells and neurons causes inclusion formation and mitochondrial dysfunction. FASEB Journal 10.1096/fj.201902277RR. Green open access
file

Giri, D; Bockenhauer, D; Deshpande, C; Achermann, JC; Taylor, NF; Rumsby, G; Morgan, H; ... Ajzensztejn, M; + view all (2020) Co-Existence of Congenital Adrenal Hyperplasia and Bartter Syndrome due to Maternal Uniparental Isodisomy of HSD3B2 and CLCNKB Mutations. Hormone Research in Paediatrics 10.1159/000507577. (In press). Green open access
file

Goldstein, A; Rahman, S; (2020) Seeking impact: global perspectives on outcome measure selection for translational and clinical research for primary mitochondrial disorders. Journal of Inherited Metabolic Disease 10.1002/jimd.12320. (In press). Green open access
file

Grabovska, Y; Mackay, A; O'Hare, P; Crosier, S; Finetti, M; Schwalbe, EC; Pickles, JC; ... Williamson, D; + view all (2020) Pediatric pan-central nervous system tumor analysis of immune-cell infiltration identifies correlates of antitumor immunity. Nature Communications , 11 , Article 4324. 10.1038/s41467-020-18070-y. Green open access
file

Gregory, LC; Dattani, MT; (2020) The Molecular Basis of Congenital Hypopituitarism and Related Disorders. Journal of Clinical Endocrinology & Metabolism , 105 (6) e2103-e2120. 10.1210/clinem/dgz184. Green open access
file

Guelfi, S; D'Sa, K; Botía, JA; Vandrovcova, J; Reynolds, RH; Zhang, D; Trabzuni, D; ... Ryten, M; + view all (2020) Regulatory sites for splicing in human basal ganglia are enriched for disease-relevant information. Nature Communications , 11 , Article 1041. 10.1038/s41467-020-14483-x. Green open access
file

Guemes, M; Rahman, SA; Kapoor, RR; Flanagan, S; Houghton, JAL; Misra, S; Oliver, N; ... Shah, P; + view all (2020) Hyperinsulinemic hypoglycemia in children and adolescents: Recent advances in understanding of pathophysiology and management. Reviews in Endocrine and Metabolic Disorders 10.1007/s11154-020-09548-7. Green open access
file

H

Hammond, J; Klapwijk, JE; Hill, M; Lou, S; Ormond, KE; Diderich, KEM; Riedijk, S; (2020) Parental experiences of uncertainty following an abnormal fetal anomaly scan: Insights using Han’s taxonomy of uncertainty. Journal of Genetic Counseling 10.1002/jgc4.1311. (In press). Green open access
file

Harding, E; Hammond, J; Chitty, LS; Hill, M; Lewis, C; (2020) Couples experiences of receiving uncertain results following prenatal microarray or exome sequencing: A mixed-methods systematic review. Prenatal Diagnosis , 40 (8) pp. 1028-1039. 10.1002/pd.5729. Green open access
file

Heaton, RA; Heales, S; Rahman, K; Sexton, DW; Hargreaves, I; (2020) The Effect of Cellular Coenzyme Q(10) Deficiency on Lysosomal Acidification. Journal Of Clinical Medicine , 9 (6) , Article 1923. 10.3390/jcm9061923. Green open access
file

Hietamäki, J; Gregory, LC; Ayoub, S; Iivonen, A-P; Vaaralahti, K; Liu, X; Brandstack, N; ... Raivio, T; + view all (2020) Loss-of-function variants in TBC1D32 underlie syndromic hypopituitarism. The Journal of Clinical Endocrinology & Metabolism 10.1210/clinem/dgaa078. (In press). Green open access
file

Hikmat, O; Naess, K; Engvall, M; Klingenberg, C; Rasmussen, M; Tallaksen, CME; Brodtkorb, E; ... Bindoff, LA; + view all (2020) Simplifying the clinical classification of polymerase gamma (POLG) disease based on age of onset; studies using a cohort of 155 cases. Journal of Inherited Metabolic Disease 10.1002/jimd.12211. Green open access
file

Hikmat, O; Naess, K; Engvall, M; Klingenberg, C; Rasmussen, M; Tallaksen, CME; Samsonsen, C; ... Bindoff, LA; + view all (2020) The impact of gender, puberty, and pregnancy in patients with POLG disease. Annals of Clinical and Translational Neurology , 7 (10) pp. 2019-2025. 10.1002/acn3.51199. Green open access
file

Hill, M; Hammond, J; Lewis, C; Mellis, R; Clement, E; Chitty, LS; (2020) Delivering genome sequencing for rapid genetic diagnosis in critically ill children: parent and professional views, experiences and challenges. European Journal of Human Genetics 10.1038/s41431-020-0667-z. (In press). Green open access
file

Hong, Y; Keylock, A; Jensen, B; Jacques, TS; Ogunbiyi, O; Omoyinmi, E; Saunders, D; ... Eleftheriou, D; + view all (2020) Cerebral arteriopathy associated with heterozygous variants in the casitas B-lineage lymphoma gene. Neurology Genetics , 6 (4) , Article e448. 10.1212/NXG.0000000000000448. Green open access
file

I

Irving, E; Tagalakis, AD; Maeshima, R; Hart, SL; Eaton, S; Lehtonen, A; Stoker, AW; (2020) The liposomal delivery of hydrophobic oxidovanadium complexes imparts highly effective cytotoxicity and differentiating capacity in neuroblastoma tumour cells. Scientific Reports , 10 (1) , Article 16660. 10.1038/s41598-020-73539-6. Green open access
file

J

Juban, G; Sakakini, N; Chagraoui, H; Cruz Hernandez, D; Cheng, Q; Soady, K; Stoilova, B; ... Vyas, P; + view all (2020) Oncogenic Gata1 Causes Stage-Specific Megakaryocyte Differentiation Delay. Haematologica 10.3324/haematol.2019.244541. (In press). Green open access
file

K

Kallali, W; Gray, E; Mehdi, MZ; Lindsay, RS; Metherell, LA; Buonocore, F; Suntharalingham, JP; ... Donaldson, M; + view all (2020) Long-term outcome of partial P450 side-chain cleavage enzyme deficiency in three brothers: the importance of early diagnosis. European Journal of Endocrinology 10.1530/EJE-19-0696. (In press). Green open access
file

Kaplanis, J; Samocha, KE; Wiel, L; Zhang, Z; Arvai, KJ; Eberhardt, RY; Gallone, G; ... Retterer, K; + view all (2020) Evidence for 28 genetic disorders discovered by combining healthcare and research data. Nature , 586 (7831) pp. 757-762. 10.1038/s41586-020-2832-5. Green open access
file

Karda, R; Rahim, AA; Wong, AMS; Suff, N; Diaz, JA; Perocheau, DP; Tijani, M; ... Waddington, SN; + view all (2020) Generation of light-producing somatic-transgenic mice using adeno-associated virus vectors. Scientific Reports , 10 (1) , Article 2121. 10.1038/s41598-020-59075-3. Green open access
file

Keller, N; Mendoza-Ferreira, N; Maroofian, R; Chelban, V; Khalil, Y; Mills, PB; Boostani, R; ... Karakaya, M; + view all (2020) Hereditary polyneuropathy with optic atrophy due to PDXK variant leading to impaired Vitamin B6 metabolism. Neuromuscular Disorders , 30 (7) pp. 583-589. 10.1016/j.nmd.2020.04.004. Green open access
file

Keshavan, N; Abdenur, J; Anderson, G; Assouline, Z; Barcia, G; Bouhikbar, L; Chakrapani, A; ... Rahman, S; + view all (2020) The natural history of infantile mitochondrial DNA depletion syndrome due to RRM2B deficiency. Genetics in Medicine , 22 pp. 199-209. 10.1038/s41436-019-0613-z. Green open access
file

Kim, A; Grover, A; Hammon, K; de Hart, G; Slasor, P; Cherukuri, A; Ajayi, T; ... Henshaw, JW; + view all (2020) Clinical pharmacokinetics and pharmacodynamics of cerliponase alfa, enzyme replacement therapy for CLN2 disease by intracerebroventricular administration. Clinical and Translational Science 10.1111/cts.12925. (In press). Green open access
file

Kinsler, V; Boccara, O; Fraitag, S; Torrelo, A; Vabres, P; Diociauti, A; (2020) Mosaic abnormalities of the skin – review and guidelines from the European Reference Network for rare skin diseases (ERN-Skin). British Journal of Dermatology , 182 (3) pp. 552-563. 10.1111/bjd.17924. Green open access
file

Kleine Holthaus, S-M; Aristorena, M; Maswood, R; Semenyuk, O; Hoke, J; Hare, A; Smith, AJ; ... Ali, RR; + view all (2020) Gene Therapy Targeting the Inner Retina Rescues the Retinal Phenotype in a Mouse Model of CLN3 Batten Disease. Human Gene Therapy , 31 (13-14) pp. 709-718. 10.1089/hum.2020.038. Green open access
file

Kline, RA; Wishart, TM; Mills, K; Heywood, WE; (2020) Applying modern Omic technologies to the Neuronal Ceroid Lipofuscinoses. Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease , 1866 (9) , Article 165498. 10.1016/j.bbadis.2019.06.012. Green open access
filefile

Krywawych, S; Cleary, M; McSweeney, M; Heales, S; (2020) Earwax: A potentially useful medium to identify inborn errors of metabolism? JIMD Reports , 52 (1) pp. 72-78. 10.1002/jmd2.12102. Green open access
file

L

Lassalle, F; Beale, MA; Bharucha, T; Williams, CA; Williams, RJ; Cudini, J; Goldstein, R; ... Breuer, J; + view all (2020) Whole genome sequencing of Herpes Simplex Virus 1 directly from human cerebrospinal fluid reveals selective constraints in neurotropic viruses. Virus Evolution , 6 (1) , Article veaa012. 10.1093/ve/veaa012. Green open access
file

Lee, MY; Wang, H-Z; White, TW; Brooks, T; Pittman, A; Halai, H; Petrova, A; ... Di, W-L; + view all (2020) Allele-Specific Small Interfering RNA Corrects Aberrant Cellular Phenotype in Keratitis-Ichthyosis-Deafness Syndrome Keratinocytes. Journal of Investigative Dermatology , 140 (5) 1035-1044.e7. 10.1016/j.jid.2019.09.022. Green open access
file

Leung, K-Y; De Castro, SCP; Santos, C; Savery, D; Prunty, H; Gold-Diaz, D; Bennett, S; ... Greene, NDE; + view all (2020) Regulation of glycine metabolism by the glycine cleavage system and conjugation pathway in mouse models of Non-Ketotic Hyperglycinemia. Journal of Inherited Metabolic Disease , 43 (6) pp. 1186-1198. 10.1002/jimd.12295. Green open access
file

Lewis, C; Hammond, J; Hill, M; Searle, B; Hunter, A; Patch, C; Chitty, LS; (2020) Young people's understanding, attitudes and involvement in decision-making about genome sequencing for rare diseases: A qualitative study with participants in the UK 100,000 genomes project. European Journal of Medical Genetics , 63 (11) , Article 104043. 10.1016/j.ejmg.2020.104043. Green open access
file

Lewis, C; Sanderson, S; Hill, M; Patch, C; Searle, B; Hunter, A; Chitty, LS; (2020) Parents' motivations, concerns and understanding of genome sequencing: a qualitative interview study. European Journal of Human Genetics 10.1038/s41431-020-0575-2. Green open access
file

Lewis, C; Sanderson, SC; Hammond, J; Hill, M; Searle, B; Hunter, A; Patch, C; (2020) Development and mixed-methods evaluation of an online animation for young people about genome sequencing. European Journal of Human Genetics , 28 pp. 896-906. 10.1038/s41431-019-0564-5. Green open access
file

Liu, JYW; Dzurova, N; Al-Kaaby, B; Mills, K; Sisodiya, SM; Thom, M; (2020) Granule Cell Dispersion in Human Temporal Lobe Epilepsy: Proteomics Investigation of Neurodevelopmental Migratory Pathways. Frontiers in Cellular Neuroscience , 14 , Article 53. 10.3389/fncel.2020.00053. Green open access
file

Liu, W; Kleine-Holthaus, S-M; Herranz-Martin, S; Aristorena, M; Mole, SE; Smith, AJ; Ali, RR; (2020) Experimental gene therapies for the NCLs. Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease , 1866 (9) , Article 165772. 10.1016/j.bbadis.2020.165772. Green open access
file

Lorvellec, M; Pellegata, AF; Maestri, A; Turchetta, C; Alvarez Mediavilla, E; Shibuya, S; Jones, B; ... Gissen, P; + view all (2020) An In Vitro Whole-Organ Liver Engineering for Testing of Genetic Therapies. iScience , 23 (12) , Article 101808. 10.1016/j.isci.2020.101808. Green open access
file

Lourenço, CM; Pessoa, A; Mendes, CC; Rivera-Nieto, C; Vergara, D; Troncoso, M; Gardner, E; ... Mole, SE; + view all (2020) Revealing the clinical phenotype of atypical neuronal ceroid lipofuscinosis type 2 disease: Insights from the largest cohort in the world. Journal of Paediatrics and Child Health 10.1111/jpc.15250. (In press). Green open access
file

Lumby, CK; Zhao, L; Oporto, M; Best, T; Tutill, H; Shah, D; Veys, P; ... Breuer, J; + view all (2020) Favipiravir and Zanamivir Cleared Infection with Influenza B in a Severely Immunocompromised Child. Clinical Infectious Diseases 10.1093/cid/ciaa023. (In press). Green open access
file

Luo, J; Mills, K; le Cessie, S; Noordam, R; van Heemst, D; (2020) Ageing, age-related diseases and oxidative stress: What to do next? Ageing Research Reviews , 57 , Article 100982. 10.1016/j.arr.2019.100982. Green open access
file

M

Maeshima, R; Moulding, D; Stoker, AW; Hart, SL; (2020) MYCN Silencing by RNA Interference Induces Neurogenesis and Suppresses Proliferation in Models of Neuroblastoma with Resistance to Retinoic Acid. Nucleic Acid Therapeutics , 30 (4) pp. 237-248. 10.1089/nat.2019.0831. Green open access
file

Manole, A; Efthymiou, S; O'Connor, E; Mendes, MI; Jennings, M; Maroofian, R; Davagnanam, I; ... Houlden, H; + view all (2020) De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects. American Journal of Human Genetics , 107 (2) pp. 311-324. 10.1016/j.ajhg.2020.06.016. Green open access
file

Martens, LG; Luo, J; Meulmeester, FL; Ashrafi, N; van Eekelen, EW; de Mutsert, R; Mook-Kanamori, DO; ... van Heemst, D; + view all (2020) Associations between Lifestyle Factors and Vitamin E Metabolites in the General Population. Antioxidants , 9 (12) , Article 1280. 10.3390/antiox9121280. Green open access
file

McCarthy, DJ; Rostom, R; Huang, Y; Kunz, DJ; Danecek, P; Bonder, MJ; Hagai, T; ... Teichmann, SA; + view all (2020) Cardelino: computational integration of somatic clonal substructure and single-cell transcriptomes. Nature Methods , 17 pp. 414-421. 10.1038/s41592-020-0766-3. Green open access
file

Mellis, R; Chandler, N; Jenkins, L; Chitty, LS; (2020) The role of sonographic phenotyping in delivering an efficient non-invasive prenatal diagnosis (NIPD) service for FGFR3-related skeletal dysplasias. Prenatal Diagnosis , 40 (7) pp. 785-791. 10.1002/pd.5687. Green open access
file

Mencacci, NE; Reynolds, R; Ruiz, SG; Vandrovcova, J; Forabosco, P; Sánchez-Ferrer, A; Volpato, V; ... Ryten, M; + view all (2020) Dystonia genes functionally converge in specific neurons and share neurobiology with psychiatric disorders. Brain , Article awaa217. 10.1093/brain/awaa217. (In press). Green open access
file

Meng, J; Counsell, J; Morgan, JE; (2020) Effects of Mini-Dystrophin on Dystrophin-Deficient, Human Skeletal Muscle-Derived Cells. International Journal of Molecular Sciences , 21 (19) , Article 7168. 10.3390/ijms21197168. Green open access
file

Meng, J; Sweeney, N; Doreste, B; Muntoni, F; McClure, M; Morgan, J; (2020) Restoration of Functional Full-Length Dystrophin After Intramuscular Transplantation of Foamy Virus-Transduced Myoblasts. Human Gene Therapy , 31 (3-4) 10.1089/hum.2019.224. Green open access
file

Meng, J; Tagalakis, AD; Hart, SL; (2020) Silencing E3 Ubiqutin ligase ITCH as a potential therapy to enhance chemotherapy efficacy in p53 mutant neuroblastoma cells. Scientific Reports , 10 (1) , Article 1046. 10.1038/s41598-020-57854-6. Green open access
file

Mestach, L; Polubothu, S; Calder, A; Denayer, E; Gholam, K; Legius, E; Levtchenko, E; ... Morren, M-A; + view all (2020) Keratinocytic epidermal nevi associated with localized fibro-osseous lesions without hypophosphatemia. Pediatric Dermatology , 37 (5) pp. 890-895. 10.1111/pde.14254. Green open access
filefilefile

Minniti, ME; Pedrelli, M; Vedin, L-L; Delbès, A-S; Denis, RGP; Öörni, K; Sala, C; ... Parini, P; + view all (2020) New insights from liver-humanized mice on cholesterol lipoprotein metabolism and LXR-agonist pharmacodynamics in humans. Hepatology 10.1002/hep.31052. (In press). Green open access
file

Mirauta, BA; Seaton, DD; Bensaddek, D; Brenes, A; Bonder, MJ; Kilpinen, H; HipSci Consortium; ... Lamond, AI; + view all (2020) Population-scale proteome variation in human induced pluripotent stem cells. eLife , 9 , Article e57390. 10.7554/eLife.57390. Green open access
file

Mohammad, SS; Angiti, RR; Biggin, A; Morales-Briceño, H; Goetti, R; Perez-Dueñas, B; Gregory, A; ... Basal Ganglia MRI Study Group; + view all (2020) Magnetic resonance imaging pattern recognition in childhood bilateral basal ganglia disorders. Brain Communications , 2 (2) , Article fcaa178. 10.1093/braincomms/fcaa178. Green open access
file

Morava, E; Baumgartner, M; Patterson, M; Peters, V; Rahman, S; (2020) Newborn Screening: To WES or not to WES, that is the question. Journal of Inherited Metabolic Disease , 43 (5) pp. 904-905. 10.1002/jimd.12303. Green open access
file

Mullin, S; Smith, L; Lee, K; D'Souza, G; Woodgate, P; Elflein, J; Hällqvist, J; ... Schapira, AHV; + view all (2020) Ambroxol for the Treatment of Patients With Parkinson Disease With and Without Glucocerebrosidase Gene Mutations: A Nonrandomized, Noncontrolled Trial. JAMA Neurology 10.1001/jamaneurol.2019.4611. Green open access
file

Muthiah, S; Polubothu, S; Husain, A; Oliphant, T; Kinsler, VA; Rajan, N; (2020) A mosaic variant in MAP2K1 is associated with giant naevus spilus-type congenital melanocytic naevus and melanoma development. British Journal Of Dermatology 10.1111/bjd.19118. (In press). Green open access
file

N

Ng, J; Cortès-Saladelafont, E; Abela, L; Termsarasab, P; Mankad, K; Sudhakar, S; Gorman, KM; ... Kurian, MA; + view all (2020) DNAJC6 Mutations Disrupt Dopamine Homeostasis in Juvenile Parkinsonism‐Dystonia. Movement Disorders 10.1002/mds.28063. (In press). Green open access
file

Noyce, A; (2020) Large-scale pathway specific polygenic risk and transcriptomic community network analysis identifies novel functional pathways in Parkinson disease. Acta Neuropathologica , 140 pp. 341-358. 10.1007/s00401-020-02181-3. Green open access
file

O

Opladen, T; López-Laso, E; Cortès-Saladelafont, E; Pearson, TS; Sivri, HS; Yildiz, Y; Assmann, B; ... International Working Group on Neurotransmitter related Disorder, .; + view all (2020) Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH₄) deficiencies. Orphanet Journal of Rare Diseases , 15 (1) , Article 126. 10.1186/s13023-020-01379-8. Green open access
file

P

Parry, DA; Martin, CA; Greene, P; Marsh, JA; Ambrose, JC; Arumugam, P; Baple, EL; ... Jackson, AP; + view all (2020) Heterozygous lamin B1 and lamin B2 variants cause primary microcephaly and define a novel laminopathy. Genetics in Medicine 10.1038/s41436-020-00980-3. (In press). Green open access
file

Patel, N; Mills, P; Davison, J; Cleary, M; Gissen, P; Banushi, B; Doykov, I; ... Heywood, WE; + view all (2020) Free urinary glycosylated hydroxylysine as an indicator of altered collagen degradation in the mucopolysaccharidoses. Journal of Inherited Metabolic Disease , 43 (2) pp. 309-317. 10.1002/jimd.12166. Green open access
file

PCAWG Transcriptome Core Group, .; Calabrese, C; Davidson, NR; Demircioğlu, D; Fonseca, NA; He, Y; Kahles, A; ... PCAWG Consortium, .; + view all (2020) Genomic basis for RNA alterations in cancer. Nature , 578 (7793) pp. 129-136. 10.1038/s41586-020-1970-0. Green open access
file

Perretta Tejedor, N; Freke, G; Seda, M; Long, D; Jenkins, D; (2020) Generating mutant renal cell lines using CRISPR technologies. Methods in Molecular Biology , 2067 pp. 323-340. 10.1007/978-1-4939-9841-8_20. Green open access
file

Pickering, H; Chernet, A; Sata, E; Zerihun, M; Williams, CA; Breuer, J; Nute, AW; ... Nash, SD; + view all (2020) Genomics of Ocular Chlamydia trachomatis after 5 years of SAFE interventions for trachoma in Amhara, Ethiopia. The Journal of Infectious Diseases 10.1093/infdis/jiaa615. (In press). Green open access
file

Pickles, JC; Fairchild, AR; Stone, TJ; Brownlee, L; Merve, A; Yasin, SA; Avery, A; ... Jacques, TS; + view all (2020) DNA methylation-based profiling for paediatric CNS tumour diagnosis and treatment: a population-based study. The Lancet Child & Adolescent Health , 4 (2) pp. 121-130. 10.1016/S2352-4642(19)30342-6. Green open access
file

Pinto E Vairo, F; Pichurin, PN; Fervenza, FC; Nasr, SH; Mills, K; Schmitz, CT; Klee, EW; (2020) Nail-patella-like renal disease masquerading as Fabry disease on kidney biopsy: a case report. BMC Nephrology , 21 (1) , Article 341. 10.1186/s12882-020-02012-3. Green open access
file

Pirazzini, C; Azevedo, T; Baldelli, L; Bartoletti-Stella, A; Calandra-Buonaura, G; Molin, AD; Dimitri, GM; ... PROPAG-AGEING Consortium; + view all (2020) A Geroscience approach for Parkinson's Disease: conceptual framework and design of PROPAG-AGEING project. Mechanisms of Ageing and Development 10.1016/j.mad.2020.111426. (In press). Green open access
file

Pitceathly, RDS; Keshavan, N; Rahman, J; Rahman, S; (2020) Moving Towards Clinical Trials for Mitochondrial Diseases. Journal of Inherited Metabolic Disease 10.1002/jimd.12281. (In press). Green open access
file

Plotegher, N; Perocheau, D; Ferrazza, R; Massaro, G; Bhosale, G; Zambon, F; Rahim, AA; ... Duchen, MR; + view all (2020) Impaired cellular bioenergetics caused by GBA1 depletion sensitizes neurons to calcium overload. Cell Death & Differentiation , 27 pp. 1588-1603. 10.1038/s41418-019-0442-2. Green open access
file

Polubothu, S; Abdin, D; Barysch, M; Thomas, A; Bulstrode, N; Evans, R; Solman, L; ... Kinsler, VA; + view all (2020) Dermatological signs lead to discovery of mosaic ACTB variants in segmental odonto-maxillary dysplasia. British Journal of Dermatology , 183 (6) pp. 1128-1130. 10.1111/bjd.19339. Green open access
file

Polubothu, S; A-Olabi, L; Carmen Del Boente, M; Chacko, A; Eleftheriou, G; Glover, M; Jiménez-Gallo, D; ... Kinsler, VA; + view all (2020) GNA11 Mutation as a Cause of Sturge-Weber Syndrome: Expansion of the Phenotypic Spectrum of Gα/11 Mosaicism and the Associated Clinical Diagnoses. Journal of Investigative Dermatology , 140 (5) pp. 1110-1113. 10.1016/j.jid.2019.10.019. Green open access
file

Polubothu, S; Kinsler, VA; (2020) Final congenital melanocytic naevi colour is determined by normal skin colour and unaltered by superficial removal techniques: a longitudinal study. British Journal of Dermatology , 182 (3) pp. 721-728. 10.1111/bjd.18149. Green open access
file

Polubothu, Satyamaanasa; (2020) Genetic studies in Congenital Melanocytic Naavi. Doctoral thesis (Ph.D), UCL (University College London).

Poulter, JA; Gravett, MSC; Taylor, RL; Fujinami, K; De Zaeytijd, J; Bellingham, J; Rehman, AU; ... Inglehearn, CF; + view all (2020) New variants and in silico analyses in GRK1 associated Oguchi disease. Human Mutation 10.1002/humu.24140. (In press). Green open access
file

R

Rahim, AA; Gissen, P; (2020) Gene therapy for global brain diseases: one small step for mice, one giant leap for humans. Brain , 143 (7) pp. 1964-1966. 10.1093/brain/awaa189. Green open access
file

Rahim, AA; Russell, C; Mole, SE; (2020) Special edition: The NCLs/Batten disease. Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease , 1866 (9) , Article 165824. 10.1016/j.bbadis.2020.165824. Green open access
file

Rees, JS; Castellano, S; Andrés, AM; (2020) The Genomics of Human Local Adaptation. Trends in Genetics , 36 (6) pp. 415-428. 10.1016/j.tig.2020.03.006. Green open access
file

Robson, EA; Dixon, L; Causon, L; Dawes, W; Benenati, M; Fassad, M; Hirst, RA; ... O'Callaghan, C; + view all (2020) Hydrocephalus and diffuse choroid plexus hyperplasia in primary ciliary dyskinesia-related MCIDAS mutation. Neurology: Genetics , 6 (4) , Article e482. 10.1212/NXG.0000000000000482. Green open access
file

S

Scotchman, E; Chandler, NJ; Mellis, R; Chitty, LS; (2020) Noninvasive Prenatal Diagnosis of Single-Gene Diseases: The Next Frontier. Clinical Chemistry , 66 (1) pp. 53-60. 10.1373/clinchem.2019.304238. Green open access
file

Seker Yilmaz, B; Baruteau, J; Rahim, AA; Gissen, P; (2020) Clinical and Molecular Features of Early Infantile Niemann Pick Type C Disease. International Journal of Molecular Sciences , 21 (14) , Article 5059. 10.3390/ijms21145059. Green open access
file

Shaw, J; Scotchman, E; Chandler, N; Chitty, L; (2020) Non-invasive prenatal testing for aneuploidy, copy number variants and single gene disorders. Reproduction , 160 (5) A1-A11. 10.1530/REP-19-0591. Green open access
file

Shoemark, A; Pinto, AL; Patel, MP; Daudvohra, F; Hogg, C; Mitchison, HM; Burgoyne, T; (2020) PCD Detect: enhancing ciliary features through image averaging and classification. American Journal of Physiology: Lung Cellular and Molecular Physiology , 319 (6) L1048-L1060. 10.1152/ajplung.00264.2020. Green open access
file

Sisodiya, SM; Whelan, CD; Hatton, SN; Huynh, K; Altmann, A; Ryten, M; Vezzani, A; ... McDonald, CR; + view all (2020) The ENIGMA-Epilepsy working group: Mapping disease from large data sets. Human Brain Mapping 10.1002/hbm.25037. (In press). Green open access
file

Soria, LR; Gurung, S; De Sabbata, G; Perocheau, D; De Angelis, A; Bruno, G; Polishchuk, E; ... Brunetti-Pierri, N; + view all (2020) Beclin‐1‐mediated activation of autophagy improves proximal and distal urea cycle disorders. EMBO Molecular Medicine , Article e13158. 10.15252/emmm.202013158. Green open access
file

Steel, D; Zech, M; Zhao, C; Barwick, KE; Burke, D; Demailly, D; Kumar, KR; ... Winkelmann, J; + view all (2020) Loss-of-function variants in HOPS complex genes VPS16 and VPS41 cause early-onset dystonia associated with lysosomal abnormalities. Annals of Neurology , 88 (5) pp. 867-877. 10.1002/ana.25879. Green open access
file

Suff, N; Rajvinder, K; Diaz, A; Ng, J; Baruteau, J; Perocheau, D; Taylor, P; ... Peebles, DM; + view all (2020) Cervical gene delivery of the antimicrobial peptide, Human β‐defensin (HBD)-3, in a mouse model of ascending infection-related preterm birth. Frontiers in Immunology , 11 , Article 106. 10.3389/fimmu.2020.00106. Green open access
file

Suntharalingham, JP; Ishida, M; Buonocore, F; del Valle, I; Solanky, N; Demetriou, C; Regan, L; ... Achermann, JC; + view all (2020) Analysis of CDKN1C in fetal growth restriction and pregnancy loss [version 2; peer review: 2 approved]. F1000Research , 8 , Article 90. 10.12688/f1000research.15016.2. Green open access
file

T

Tan, MMX; Lawton, MA; Jabbari, E; Reynolds, RH; Iwaki, H; Blauwendraat, C; Kanavou, S; ... Morris, HR; + view all (2020) Genome-Wide Association Studies of Cognitive and Motor Progression in Parkinson's Disease. Movement Disorders 10.1002/mds.28342. (In press). Green open access
file

Thaventhiran, JED; Lango Allen, H; Burren, OS; Rae, W; Greene, D; Staples, E; Zhang, Z; ... Smith, KGC; + view all (2020) Whole-genome sequencing of a sporadic primary immunodeficiency cohort. Nature , 583 pp. 90-95. 10.1038/s41586-020-2265-1. Green open access
file

The ICGC/TCGA Pan-Cancer Analysis of Whole Genomes Consortium; (2020) Pan-cancer analysis of whole genomes. Nature , 578 (7793) pp. 82-93. 10.1038/s41586-020-1969-6. Green open access
file

Tookey, PA; Mahdavi, S; Peckham, CS; (2020) Surveillance of neonatal herpes in the British Isles 2004-2006. F1000Research , 9 , Article 163. 10.12688/f1000research.21538.1. Green open access
file

Toomey, CE; Heywood, W; Benson, BC; Packham, G; Mills, K; Lashley, T; (2020) Investigation of pathology, expression and proteomic profiles in human TREM2 variant postmortem brains with and without Alzheimer’s disease. Brain Pathology 10.1111/bpa.12842. (In press). Green open access
file

Turro, E; Astle, WJ; Megy, K; Gräf, S; Greene, D; Shamardina, O; Allen, HL; ... Ouwehand, WH; + view all (2020) Whole-genome sequencing of patients with rare diseases in a national health system. Nature , 583 pp. 96-102. 10.1038/s41586-020-2434-2. Green open access
file

U

Uggenti, C; Lepelley, A; Depp, M; Badrock, AP; Rodero, MP; El-Daher, M-T; Rice, GI; ... Crow, YJ; + view all (2020) cGAS-mediated induction of type I interferon due to inborn errors of histone pre-mRNA processing. Nature Genetics , 52 (12) pp. 1364-1372. 10.1038/s41588-020-00737-3. Green open access
file

V

Velkova, Simona Asenova; (2020) Moraxella catarrhalis and rhinovirus infection and co-infection of healthy and chronic obstructive pulmonary disease ciliated respiratory epithelium. Doctoral thesis (Ph.D), UCL (University College London). Green open access
filefile

Vig, A; Poulter, JA; Ottaviani, D; Tavares, E; Toropova, K; Tracewska, AM; Mollica, A; ... Heon, E; + view all (2020) DYNC2H1 hypomorphic or retina-predominant variants cause nonsyndromic retinal degeneration. Genetics in Medicine 10.1038/s41436-020-0915-1. (In press). Green open access
file

Vootukuri, RS; Philpott, MP; Trigiante, G; (2020) Fluorimetric ex vivo quantification of protease debriding efficacy on natural substrate. Wound Repair and Regeneration , 28 (6) pp. 844-847. 10.1111/wrr.12864. Green open access
file

W

Wainwright, L; Hargreaves, IP; Georgian, AR; Turner, C; Dalton, RN; Abbott, NJ; Heales, SJR; (2020) CoQ₁₀ Deficient Endothelial Cell Culture Model for the Investigation of CoQ₁₀ Blood-Brain Barrier Transport. Journal of Clinical Medicine , 9 (10) , Article 3236. 10.3390/jcm9103236. Green open access
file

Wei, W; Pagnamenta, AT; Gleadall, N; Sanchis-Juan, A; Stephens, J; Broxholme, J; Tuna, S; ... Chinnery, PF; + view all (2020) Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans. Nature Communications , 11 , Article 1740. 10.1038/s41467-020-15336-3. Green open access
file

Wibbeler, E; Wang, R; Reyes, EDL; Specchio, N; Gissen, P; Guelbert, N; Nickel, M; ... Schulz, A; + view all (2020) Cerliponase Alfa for the Treatment of Atypical Phenotypes of CLN2 Disease: A Retrospective Case Series. Journal of Child Neurology 10.1177/0883073820977997. (In press). Green open access
file

Woodcock, T; Barker, P; Daniel, S; Fletcher, S; Wass, JAH; Tomlinson, JW; Misra, U; ... Vercueil, A; + view all (2020) Guidelines for the management of glucocorticoids during the peri-operative period for patients with adrenal insufficiency Guidelines from the Association of Anaesthetists, the Royal College of Physicians and the Society for Endocrinology UK. Anaesthesia , 75 (5) pp. 654-663. 10.1111/anae.14963. Green open access
file

Wortmann, SB; Meunier, B; Mestek-Boukhibar, L; van den Broek, F; Maldonado, EM; Clement, E; Weghuber, D; ... Rahman, S; + view all (2020) Bi-allelic Variants in TKFC Encoding Triokinase/FMN Cyclase Are Associated with Cataracts and Multisystem Disease. The American Journal of Human Genetics , 106 (2) pp. 256-263. 10.1016/j.ajhg.2020.01.005. Green open access
file

X

Xue, H; Tseng, E; Knott, KD; Kotecha, T; Brown, L; Plein, S; Fontana, M; ... Kellman, P; + view all (2020) Automated detection of left ventricle in arterial input function images for inline perfusion mapping using deep learning: A study of 15,000 patients. Magnetic Resonance in Medicine , 84 (5) pp. 2788-2800. 10.1002/mrm.28291. Green open access
file

Y

Young, E; Gould, D; Hart, S; (2020) Toward gene therapy in rheumatoid arthritis. Expert Review of Precision Medicine and Drug Development , 5 (3) pp. 123-133. 10.1080/23808993.2020.1736942. Green open access
file

Z

Zarkali, A; McColgan, P; Ryten, M; Reynolds, R; Leyland, L; Lees, A; Rees, G; (2020) Dementia risk in Parkinson’s disease is associated with interhemispheric connectivity loss and determined by regional gene expression. NeuroImage: Clinical , 28 , Article 102470. 10.1016/j.nicl.2020.102470. Green open access
file

Zarkali, A; McColgan, P; Ryten, M; Reynolds, R; Leyland, L; Lees, A; Rees, G; (2020) Differences in network controllability and regional gene expression underlie visual hallucinations in Parkinson’s disease. Brain: a journal of neurology , 143 (11) pp. 3435-3448. 10.1093/brain/awaa270. Green open access
file

Zhang, D; Guelfi, S; Garcia-Ruiz, S; Costa, B; Reynolds, RH; D’Sa, K; Liu, W; ... Ryten, M; + view all (2020) Incomplete annotation has a disproportionate impact on our understanding of Mendelian and complex neurogenetic disorders. Science Advances , 6 (24) , Article eaay8299. 10.1126/sciadv.aay8299. Green open access
file

Zhang, Y; Chen, F; Fonseca, NA; He, Y; Fujita, M; Nakagawa, H; Zhang, Z; ... PCAWG Consortium; + view all (2020) High-coverage whole-genome analysis of 1220 cancers reveals hundreds of genes deregulated by rearrangement-mediated cis-regulatory alterations. Nature Communications , 11 (1) , Article 736. 10.1038/s41467-019-13885-w. Green open access
file

Zhou, H; (2020) Application and Mechanism of Action of Antisense Oligonucleotides in Precise Medicine. Journal of Precision Medicine , 35 (4) pp. 283-286. 10.13362/j.jpmed.202004001. Green open access
file

Zhou, H; Meng, J; Malerba, A; Catapano, F; Sintusek, P; Jarmin, S; Feng, L; ... Muntoni, F; + view all (2020) Myostatin inhibition in combination with antisense oligonucleotide therapy improves outcomes in spinal muscular atrophy. Journal of Cachexia, Sarcopenia and Muscle 10.1002/jcsm.12542. (In press). Green open access
file

Zhou, H; Muntoni, F; (2020) The authors reply: Letter on: "Myostatin inhibition in combination with antisense oligonucleotide therapy improves outcomes in spinal muscular atrophy" by Zhou et al . [Letter]. Journal of Cachexia, Sarcopenia and Muscle 10.1002/jcsm.12608. (In press). Green open access
file

This list was generated on Sun Feb 25 23:38:55 2024 GMT.