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Number of items: 32.


Alrashidi, H; Eaton, S; Heales, S; (2021) Biochemical characterization of proliferative and differentiated SH-SY5Y cell line as a model for Parkinson’s disease. Neurochemistry International (In press).

Andersen, MS; Bandres-Ciga, S; Reynolds, RH; Hardy, J; Ryten, M; Krohn, L; Gan-Or, Z; ... Pihlstrøm, L; + view all (2021) Heritability enrichment implicates microglia in Parkinson's disease pathogenesis. Annals of Neurology 10.1002/ana.26032. (In press).


Bosch i Ara, L; Katugampola, H; Dattani, MT; (2021) Congenital Hypopituitarism During the Neonatal Period: Epidemiology, Pathogenesis, Therapeutic Options, and Outcome. Frontiers in Pediatrics , 8 , Article 600962. 10.3389/fped.2020.600962. Green open access


Chia, R; Sabir, MS; Bandres-Ciga, S; Saez-Atienzar, S; Reynolds, RH; Gustavsson, E; Walton, RL; ... Scholz, SW; + view all (2021) Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture. Nature Genetics , 53 pp. 294-30353. 10.1038/s41588-021-00785-3.

Counsell, JR; De Brabandere, G; Karda, R; Moore, M; Greco, A; Bray, A; Diaz, JA; ... Waddington, SN; + view all (2021) Re-structuring lentiviral vectors to express genomic RNA via cap-dependent translation. Molecular Therapy - Methods and Clinical Development , 20 pp. 357-365. 10.1016/j.omtm.2020.12.005. Green open access


Di Cicco, E; Moran, C; Visser, WE; Nappi, A; Schoenmakers, E; Todd, P; Lyons, G; ... Dentice, M; + view all (2021) Germline mutations in the thyroid hormone receptor alpha gene predispose to cutaneous tags and melanocytic nevi. Thyroid 10.1089/thy.2020.0391. (In press).

Doykov, I; Hällqvist, J; Gilmour, KC; Grandjean, L; Mills, K; Heywood, WE; (2021) ‘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 2; peer review: 2 approved]. F1000Research , 9 , Article 1349. 10.12688/f1000research.27287.2. Green open access


García-Ruiz, S; Gil-Martínez, AL; Cisterna, A; Jurado-Ruiz, F; Reynolds, RH; NABEC (North America Brain Expression Consortium), .; Cookson, MR; ... Botía, JA; + view all (2021) CoExp: A Web Tool for the Exploitation of Co-expression Networks. Frontiers in Gentics , 12 , Article 630187. 10.3389/fgene.2021.630187. Green open access

Graham, C; Hart, S; (2021) CRISPR/Cas9 gene editing therapies for cystic fibrosis. Expert Opinion on Biological Therapy 10.1080/14712598.2021.1869208. (In press).


Hammond, J; Garner, I; Hill, M; Patch, C; Hunter, A; Searle, B; Sanderson, SC; (2021) Animation or leaflet: Does it make a difference when educating young people about genome sequencing? Patient Education and Counseling 10.1016/j.pec.2021.02.048. (In press). Green open access


Iwan, K; Clayton, R; Mills, P; Csanyi, B; Gissen, P; Mole, SE; Palmer, DN; ... Heywood, WE; + view all (2021) Urine Proteomics Analysis of Patients with Neuronal Ceroid Lipofuscinoses. iScience , 4 (2) , Article 102020. 10.1016/j.isci.2020.102020. Green open access


Jabbari, E; Koga, S; Valentino, R; Reynolds, R; Ferrari, R; Tan, M; Rowe, J; ... Morris, H; + view all (2021) Genetic determinants of survival in progressive supranuclear palsy: a genome-wide association study. The Lancet Neurology , 20 (2) pp. 107-116. 10.1016/S1474-4422(20)30394-X.

Jones, CL; Degasperi, A; Grandi, V; Amarante, TD; Genomics England Research Consortium, .; Mitchell, TJ; Nik-Zainal, S; (2021) Spectrum of mutational signatures in T-cell lymphoma reveals a key role for UV radiation in cutaneous T-cell lymphoma. Scientific Reports , 11 (1) , Article 3962. 10.1038/s41598-021-83352-4. Green open access


Kia, DA; Zhang, D; Guelfi, S; Manzoni, C; Hubbard, L; Reynolds, RH; Botía, J; ... Botiá, JA; + view all (2021) Identification of Candidate Parkinson Disease Genes by Integrating Genome-Wide Association Study, Expression, and Epigenetic Data Sets. JAMA Neurology 10.1001/jamaneurol.2020.5257. (In press). Green open access

Kildisiute, G; Kholosy, WM; Young, MD; Roberts, K; Elmentaite, R; van Hooff, SR; Pacyna, CN; ... Behjati, S; + view all (2021) Tumor to normal single-cell mRNA comparisons reveal a pan-neuroblastoma cancer cell. Science Advances , 7 (6) , Article eabd3311. 10.1126/sciadv.abd3311. Green open access

Kılavuz, S; Bulut, D; Kor, D; Şeker-Yılmaz, B; Özcan, N; Incecik, F; Onan, B; ... Önenli-Mungan, N; + view all (2021) The outcome of 41 Late-Diagnosed Turkish GA-1 Patients: A Candidate for the Turkish NBS. Neuropediatrics 10.1055/s-0040-1722691. (In press).


Lewis, C; Hammond, J; Klapwijk, JE; Harding, E; Lou, S; Vogel, I; Szepe, EJ; ... Riedijk, S; + view all (2021) Dealing with uncertain results from chromosomal microarray and exome sequencing in the prenatal setting: an international cross-sectional study with healthcare professionals. Prenatal Diagnosis 10.1002/pd.5932. (In press). Green open access


Martin, HC; Gardner, EJ; Samocha, KE; Kaplanis, J; Akawi, N; Sifrim, A; Eberhardt, RY; ... Davidson, R; + view all (2021) The contribution of X-linked coding variation to severe developmental disorders. Nature Communications , 12 (1) , Article 627. 10.1038/s41467-020-20852-3. (In press). Green open access

Minnis, CJ; Townsend, S; Petschnigg, J; Tinelli, E; Bähler, J; Russell, C; Mole, SE; (2021) Global network analysis in Schizosaccharomyces pombe reveals three distinct consequences of the common 1-kb deletion causing juvenile CLN3 disease. Scientific Reports , 11 , Article 6332. 10.1038/s41598-021-85471-4. Green open access


Perocheau, D; Touramanidou, L; Gurung, S; Gissen, P; Baruteau, J; (2021) Clinical applications for exosomes: are we there yet? British Journal of Pharmacology 10.1111/bph.15432. (In press).

Persani, L; Bonomi, M; Cools, M; Dattani, M; Dunkel, L; Gravholt, CH; Juul, A; (2021) ENDO-ERN expert opinion on the differential diagnosis of pubertal delay. Endocrine 10.1007/s12020-021-02626-z. (In press). Green open access


Reynolds, Regina Hertfelder; (2021) Exploring the importance of cell-type-specific gene expression regulation and splicing in Parkinson’s disease. Doctoral thesis (Ph.D), UCL (University College London).


Saez-Atienzar, S; Bandres-Ciga, S; Langston, RG; Kim, JJ; Choi, SW; Reynolds, RH; International ALS Genomics Consortium, ; ... Traynor, BJ; + view all (2021) Genetic analysis of amyotrophic lateral sclerosis identifies contributing pathways and cell types. Science Advances , 7 (3) , Article eabd9036. 10.1126/sciadv.abd9036. Green open access

Shoemark, A; Rubbo, B; Legendre, M; Fassad, MR; Haarman, EG; Best, S; Bon, ICM; ... Lucas, JS; + view all (2021) Topological data analysis reveals genotype-phenotype relationships in primary ciliary dyskinesia. European Respiratory Journal 10.1183/13993003.02359-2020. (In press).

Spicer, C; Lu, C-H; Catapano, F; Scoto, M; Zaharieva, I; Malaspina, A; Morgan, JE; ... Zhou, H; + view all (2021) The altered expression of neurofilament in mouse models and patients with spinal muscular atrophy. Annals of Clinical and Translational Neurology 10.1002/acn3.51336. (In press). Green open access

Sánchez, JA; Gil-Martinez, AL; Cisterna, A; García-Ruíz, S; Gómez-Pascual, A; Reynolds, RH; Nalls, M; ... Botía, JA; + view all (2021) Modeling multifunctionality of genes with secondary gene co-expression networks in human brain provides novel disease insights. Bioinformatics 10.1093/bioinformatics/btab175. (In press). Green open access


Thomas, G; Zarkali, A; Ryten, M; Shmueli, K; Gil Martinez, A; Leyland, L; McColgan, P; ... Weil, R; + view all (2021) Regional brain iron and gene expression provide insights into neurodegeneration in Parkinson’s disease. Brain (In press).

Tsyklauri, O; Niederlova, V; Forsythe, E; Prasai, A; Drobek, A; Kasparek, P; Sparks, K; ... Stepanek, O; + view all (2021) Bardet-Biedl Syndrome ciliopathy is linked to altered hematopoiesis and dysregulated self-tolerance. EMBO Reports , Article e50785. 10.15252/embr.202050785. (In press).


Volz, E; Hill, V; McCrone, JT; Price, A; Jorgensen, D; O'Toole, Á; Southgate, J; ... Connor, TR; + view all (2021) Evaluating the Effects of SARS-CoV-2 Spike Mutation D614G on Transmissibility and Pathogenicity. Cell , 184 (1) 64-75.e11. 10.1016/j.cell.2020.11.020. Green open access


Wagstaff, LJ; Gomez-Sanchez, JA; Fazal, SV; Otto, GW; Kilpatrick, AM; Michael, K; Wong, LY; ... Jessen, KR; + view all (2021) Failures of nerve regeneration caused by aging or chronic denervation are rescued by restoring Schwann cell c-Jun. eLife , 10 , Article e62232. 10.7554/eLife.62232. Green open access


Yutuc, E; Dickson, AL; Pacciarini, M; Griffiths, L; Baker, PRS; Connell, L; Öhman, A; ... Wang, Y; + view all (2021) Deep Mining of Oxysterols and Cholestenoic Acids in Human Plasma and Cerebrospinal Fluid: Quantification using Isotope Dilution Mass Spectrometry. Analytica Chimica Acta , Article 338259. 10.1016/j.aca.2021.338259. Green open access


Şeker Yilmaz, B; KÖr, D; Bulut, FD; Kilavuz, S; Ceylaner, S; Önenlİ Mungan, HN; (2021) Clinical and molecular findings in 37 Turkish patients with isolated methylmalonic acidemia. Turkish journal of medical sciences 10.3906/sag-2001-72. (In press). Green open access

This list was generated on Sun Apr 11 20:54:02 2021 BST.