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Number of items: 93.

A

Aung, Yuri; Kokotsis, Vasilis; Yin, Kyla Ng; Banerjee, Kausik; Butler, Gary; Dattani, Mehul T; Dimitri, Paul; ... Howard, Sasha R; + view all (2023) Key features of puberty onset and progression can help distinguish self-limited delayed puberty from congenital hypogonadotrophic hypogonadism. Frontiers in Endocrinology , 14 , Article 1226839. 10.3389/fendo.2023.1226839. Green open access
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B

Backeljauw, Philippe F; Andrews, Mary; Bang, Peter; Dalle Molle, Leo; Deal, Cheri L; Harvey, Jamie; Langham, Shirley; ... Dattani, Mehul T; + view all (2023) Challenges in the care of individuals with severe primary insulin-like growth factor-I deficiency (SPIGFD): an international, multi-stakeholder perspective. Orphanet Journal of Rare Diseases , 18 , Article 312. 10.1186/s13023-023-02928-7. Green open access
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Bakey, Zeineb; Cabrera, Oscar A; Hoefele, Julia; Antony, Dinu; Wu, Kaman; Stuck, Michael W; Micha, Dimitra; ... Pazour, Gregory J; + view all (2023) IFT74 variants cause skeletal ciliopathy and motile cilia defects in mice and humans. PLoS Genetics , 19 (6) , Article e1010796. 10.1371/journal.pgen.1010796. (In press). Green open access
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Bea-Mascato, Brais; Gómez-Castañeda, Eduardo; Sánchez-Corrales, Yara E; Castellano, Sergi; Valverde, Diana; (2023) Loss of the centrosomal protein ALMS1 alters lipid metabolism and the regulation of extracellular matrix-related processes. Biology Direct , 18 (1) , Article 84. 10.1186/s13062-023-00441-2. Green open access
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Billingsley, KJ; Ding, J; Jerez, PA; Illarionova, A; Levine, K; Grenn, FP; Makarious, MB; ... Singleton, AB; + view all (2023) Genome-Wide Analysis of Structural Variants in Parkinson Disease. Annals of Neurology 10.1002/ana.26608. (In press). Green open access
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Brenton, Jonathan; (2023) Novel Brain Networks Influenced by Ageing: Effects on Gene Expression and Synapses of Diet-Induced Obesity. Doctoral thesis (Ph.D), UCL (University College London). Green open access
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Brettell, Elizabeth; Högler, Wolfgang; Woolley, Rebecca; Cummins, Carole; Mathers, Jonathan; Oppong, Raymond; Roy, Laura; ... GHD study group; + view all (2023) The Growth Hormone Deficiency (GHD) Reversal Trial: effect on final height of discontinuation versus continuation of growth hormone treatment in pubertal children with isolated GHD—a non-inferiority Randomised Controlled Trial (RCT). Trials , 24 , Article 548. 10.1186/s13063-023-07562-z. Green open access
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Bulut, Fatma Derya; Kor, Deniz; Kılavuz, Sebile; Şeker Yılmaz, Berna; Kaplan, İrem; Ekinci, Faruk; Burgaç, Ezgi; ... Önenli Mungan, Neslihan; + view all (2023) Expanding the phenotypic landscape of Gaucher disease type 3c with a novel entity - Transient neonatal cholestasis. European Journal of Medical Genetics , 66 (6) , Article 104764. 10.1016/j.ejmg.2023.104764.

C

Chen, Zhongbo; Tucci, Arianna; Cipriani, Valentina; Gustavsson, Emil K; Ibañez, Kristina; Reynolds, Regina H; Zhang, David; ... Ryten, Mina; + view all (2023) Functional genomics provide key insights to improve the diagnostic yield of hereditary ataxia. Brain , 146 , Article awad009. 10.1093/brain/awad009. Green open access
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Cozmescu, Andrei Claudiu; (2023) Liver directed lentiviral gene therapy for ARC syndrome. Doctoral thesis (Ph.D), UCL (University College London).

Cunningham, Sharon C; van Dijk, Eva B; Zhu, Erhua; Sugden, Maya; Mandwie, Mawj; Siew, Susan; Devanapalli, Beena; ... Alexander, Ian E; + view all (2023) Recapitulation of Skewed X-Inactivation in Female Ornithine Transcarbamylase-Deficient Primary Human Hepatocytes in the FRG Mouse: A Novel System for Developing Epigenetic Therapies. Human Gene Therapy , 34 (17-18) pp. 917-926. 10.1089/hum.2023.011. Green open access
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D

D'Sa, Karishma; Guelfi, Sebastian; Vandrovcova, Jana; Reynolds, Regina H; Zhang, David; Hardy, John; Botía, Juan A; ... Ryten, Mina; + view all (2023) Analysis of subcellular RNA fractions demonstrates significant genetic regulation of gene expression in human brain post-transcriptionally. Scientific Reports , 13 (1) , Article 13874. 10.1038/s41598-023-40324-0. Green open access
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Del Valle, Ignacio; Young, Matthew D; Kildisiute, Gerda; Ogunbiyi, Olumide K; Buonocore, Federica; Simcock, Ian C; Khabirova, Eleonora; ... Achermann, John C; + view all (2023) An integrated single-cell analysis of human adrenal cortex development. JCI Insight , 8 (14) , Article e168177. 10.1172/jci.insight.168177. Green open access
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Duff, Claire; Alexander, Ian E; Baruteau, Julien; (2023) Gene therapy for Urea Cycle Defects: an update from historical perspectives to future prospects. Journal of Inherited Metabolic Disease 10.1002/jimd.12609. (In press). Green open access
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E

Elkhateeb, Nour; Olivieri, Giorgia; Siri, Barbara; Boyd, Stewart; Stepien, Karolina M; Sharma, Reena; Morris, Andrew AM; ... Baruteau, Julien; + view all (2023) Natural history of epilepsy in argininosuccinic aciduria provides new insights into pathophysiology: A retrospective international study. Epilepsia 10.1111/epi.17596. (In press). Green open access
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F

Fairbrother-Browne, Aine; García-Ruiz, Sonia; Hertfelder Reynolds, Regina; Ryten, Mina; Hodgkinson, Alan; (2023) ensemblQueryR: fast, flexible and high-throughput querying of Ensembl LD API endpoints in R. GigaByte , 2023 pp. 1-10. 10.46471/gigabyte.91. Green open access
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Fassad, Mahmoud R; Rumman, Nisreen; Junger, Katrin; Patel, Mitali P; Thompson, James; Goggin, Patricia; Ueffing, Marius; ... Mitchison, Hannah M; + view all (2023) Defective airway intraflagellar transport underlies a combined motile and primary ciliopathy syndrome caused by IFT74 mutations. Human Molecular Genetics , Article ddad132. 10.1093/hmg/ddad132. (In press). Green open access
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Forsythe, E; Haws, RM; Argente, J; Beales, P; Martos-Moreno, G; Dollfus, H; Chirila, C; ... Haqq, AM; + view all (2023) Quality of life improvements following one year of setmelanotide in children and adult patients with Bardet–Biedl syndrome: phase 3 trial results. Orphanet Journal of Rare Diseases , 18 (1) , Article 12. 10.1186/s13023-022-02602-4. Green open access
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Freke, Grace Mercedes; Martins, Tiago; Davies, Rosalind Jane; Beyer, Tina; Seda, Marian; Peskett, Emma; Haq, Naila; ... Jenkins, Dagan; + view all (2023) De-Suppression of Mesenchymal Cell Identities and Variable Phenotypic Outcomes Associated with Knockout of Bbs1. Cells , 12 (22) , Article 2662. 10.3390/cells12222662. Green open access
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Fulop, NJ; Capelas Barbosa, E; Hill, M; Ledger, J; Li Ng, P; Sherlaw-Johnson, C; Rolewicz, L; ... Morris, S; + view all (2023) Rapid evaluation of the Special Measures for Quality and challenged provider regimes: a mixed-methods study. Health and Social Care Delivery Research , 11 (19) pp. 1-139. 10.3310/GQQV3512. Green open access
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G

Gan, Hoong-Wei; Cerbone, Manuela; Dattani, Mehul Tulsidas; (2023) Appetite- and weight-regulating neuroendocrine circuitry in hypothalamic obesity. Endocrine Reviews , Article bnad033. 10.1210/endrev/bnad033. (In press).

Gan, Hoong-Wei; Morillon, Paul; Albanese, Assunta; Aquilina, Kristian; Chandler, Chris; Chang, Yen-Ching; Drimtzias, Evangelos; ... Spoudeas, Helen Alexandra; + view all (2023) National UK guidelines for the management of paediatric craniopharyngioma. The Lancet Diabetes & Endocrinology , 11 (9) pp. 694-706. 10.1016/S2213-8587(23)00162-6. Green open access
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Gan, HW; Leeson, C; Aitkenhead, H; Dattani, M; (2023) Inaccuracies in plasma oxytocin extraction and enzyme immunoassay techniques. Comprehensive Psychoneuroendocrinology , 15 , Article 100188. 10.1016/j.cpnec.2023.100188. Green open access
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García Ruiz, Sonia; (2023) Assessing splicing accuracy and its determinants across human tissues using RNA-sequencing. Doctoral thesis (Ph.D), UCL (University College London). Green open access
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García-Ruiz, Sonia; Reynolds, Regina Hertfelder; Grant-Peters, Melissa; Gustavsson, Emil Karl; Fairbrother-Browne, Aine; Chen, Zhongbo; Brenton, Jonathan William; (2023) aws-s3-integrity-check: an open-source bash tool to verify the integrity of a dataset stored on Amazon S3. GigaByte , 2023 , Article gigabyte87. 10.46471/gigabyte.87. Green open access
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Gil, E; Roy, S; Best, T; Hatcher, J; Breuer, J; (2023) Increasing rhinovirus prevalence in paediatric intensive care patients since the SARS-CoV2 pandemic. Journal of Clinical Virology , 166 , Article 105555. 10.1016/j.jcv.2023.105555. Green open access
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Gregory, Louise C; Cionna, Cecilia; Cerbone, Manuela; GOSgene; Dattani, Mehul T; (2023) Identification of genetic variants and phenotypic characterization of a large cohort of patients with congenital hypopituitarism and related disorders. Genetics in Medicine , 25 (9) , Article 100881. 10.1016/j.gim.2023.100881. Green open access
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Guo, Boyi; Huuki-Myers, Louise A; Grant-Peters, Melissa; Collado-Torres, Leonardo; Hicks, Stephanie C; (2023) escheR: unified multi-dimensional visualizations with Gestalt principles. Bioinformatics Advances , 3 (1) , Article vbad179. 10.1093/bioadv/vbad179. Green open access
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Gurung, Sonam; Karamched, Saketh; Perocheau, Dany; Seunarine, Kiran K; Baldwin, Tom; Al-Rashidi, Haya; Touramanidou, Loukia; ... Baruteau, Julien; + view all (2023) The incidence of movement disorder increases with age and contrasts with subtle and limited neuroimaging abnormalities in argininosuccinic aciduria. Journal of Inherited Metabolic Disease 10.1002/jimd.12691. (In press). Green open access
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H

Hällqvist, Jenny; Pinto, Rui C; Heywood, Wendy E; Cordey, Jonjo; Foulkes, Alexander JM; Slattery, Catherine F; Leckey, Claire A; ... Paterson, Ross W; + view all (2023) A Multiplexed Urinary Biomarker Panel Has Potential for Alzheimer’s Disease Diagnosis Using Targeted Proteomics and Machine Learning. International Journal of Molecular Sciences , 24 (18) , Article 13758. 10.3390/ijms241813758. Green open access
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Hicks, Amy R; Reynolds, Regina H; O'Callaghan, Ben; Garcia Ruiz, Sonia; Gil Martinez, Ana Luisa; Botia, Juan; Plun-Favreau, Helene; (2023) The non-specific lethal complex regulates genes and pathways genetically linked to Parkinson’s disease. Brain , Article awad246. 10.1093/brain/awad246. (In press). Green open access
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Hunter, A; Lewis, C; Hill, M; Chitty, LS; Leeson-Beevers, K; McInnes-Dean, H; Harvey, K; ... Thomson, K; + view all (2023) Public and patient involvement in research to support genome services development in the UK. Journal of Translational Genetics and Genomics , 7 pp. 17-26. 10.20517/jtgg.2022.19. Green open access
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I

Ibrahim, Majitha Seyed; Gold, Jessica I; Woodall, Alison; Yilmaz, Berna Seker; Gissen, Paul; Stepien, Karolina M; (2023) Diagnostic and Management Issues in Patients with Late-Onset Ornithine Transcarbamylase Deficiency. Children , 10 (8) , Article 1368. 10.3390/children10081368. Green open access
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K

Kantaputra, Piranit; Dejkhamron, Prapai; Sittiwangkul, Rekwan; Katanyuwong, Kamornwan; Ngamphiw, Chumpol; Sonsuwan, Nuntigar; Intachai, Worrachet; ... Buranaphatthana, Worakanya; + view all (2023) Dental Anomalies in Ciliopathies: Lessons from Patients with BBS2, BBS7, and EVC2 Mutations. Genes , 14 (1) , Article 84. 10.3390/genes14010084. Green open access
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Kerimov, Nurlan; Tambets, Ralf; Hayhurst, James D; Rahu, Ida; Kolberg, Peep; Raudvere, Uku; Kuzmin, Ivan; ... Alasoo, Kaur; + view all (2023) eQTL Catalogue 2023: New datasets, X chromosome QTLs, and improved detection and visualisation of transcript-level QTLs. PLoS Genetics , 19 (9) , Article e1010932. 10.1371/journal.pgen.1010932. Green open access
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Keshavan, Nandaki; (2023) Gene therapy for Deoxyguanosine Kinase Deficiency. Doctoral thesis (Ph.D), UCL (University College London).

Kiss, Robert S; Chicoine, Jarred; Khalil, Youssef; Sladek, Robert; Chen, He; Pisaturo, Alessandro; Martin, Cyril; ... Handley, Mark T; + view all (2023) Comparative proximity biotinylation implicates the small GTPase RAB18 in sterol mobilization and biosynthesis. Journal of Biological Chemistry , 299 (11) , Article 105295. 10.1016/j.jbc.2023.105295. Green open access
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Knöpfel, Nicole; Zecchin, Davide; Richardson, Hanna; Polubothu, Satyamaanasa; Barberan-Martin, Sara; Cullup, Thomas; Gholam, Karolina; ... Kinsler, Veronica A; + view all (2023) GNAQ/GNA11 Mosaicism Is Associated with Abnormal Serum Calcium Indices and Microvascular Neurocalcification. Journal of Investigative Dermatology 10.1016/j.jid.2023.09.008. (In press). Green open access
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L

Leonard, Hampton L; Murtadha, Ruqaya; Martinez-Carrasco, Alejandro; Jama, Alina; Mueller-Nedebock, Amica Corda; Gil-Martinez, Ana-Luisa; Illarionova, Anastasia; ... Noyce, Alastair J; + view all (2023) Author Correction: The IPDGC/GP2 Hackathon - an open science event for training in data science, genomics, and collaboration using Parkinson’s disease data. npj Parkinson's Disease , 9 , Article 77. 10.1038/s41531-023-00529-6. Green open access
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Leonard, Hampton L; Murtadha, Ruqaya; Martinez-Carrasco, Alejandro; Jama, Alina; Müller-Nedebock, Amica Corda; Gil-Martinez, Ana-Luisa; Illarionova, Anastasia; ... International Parkinson Disease Genomics Consortium (IPDGC) and; + view all (2023) The IPDGC/GP2 Hackathon - an open science event for training in data science, genomics, and collaboration using Parkinson’s disease data. NPJ Parkinson's Disease , 9 , Article 33. 10.1038/s41531-023-00472-6. Green open access
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Lona-Durazo, Frida; Reynolds, Regina H; Scholz, Sonja W; Ryten, Mina; Gagliano Taliun, Sarah A; (2023) Regional genetic correlations highlight relationships between neurodegenerative disease loci and the immune system. Communications Biology , 6 , Article 729. 10.1038/s42003-023-05113-5. Green open access
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M

Makarious, Mary B; Lake, Julie; Pitz, Vanessa; Fu, Allen Ye; Guidubaldi, Joseph L; Solsberg, Caroline Warly; Bandres-Ciga, Sara; ... Blauwendraat, Cornelis; + view all (2023) Large-scale rare variant burden testing in Parkinson's disease. Brain , 146 (11) pp. 4622-4632. 10.1093/brain/awad214.

Man, Elim; Mushtaq, Imran; Barnicoat, Angela; Carmichael, Polly; Hughes, Claire R; Davies, Kate; Aitkenhead, Helen; ... Achermann, John C; + view all (2023) A Single-Center, Observational Study of 607 Children and Young People Presenting With Differences of Sex Development (DSD). Journal of the Endocrine Society , 7 (1) , Article bvac165. 10.1210/jendso/bvac165. Green open access
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Mancuso, M; Lopriore, P; Lamperti, C; Klopstock, T; Rahman, S; Licchetta, L; Kornblum, C; ... Evangelista, T; + view all (2023) Current management of primary mitochondrial disorders in EU countries: the European Reference Networks survey. Journal of Neurology 10.1007/s00415-023-12017-1. (In press). Green open access
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Martin, Sara Barberan; Polubothu, Satyamaanasa; Bruzos, Alicia Lopez; Kelly, Gavin; Horswell, Stuart; Sauvadet, Aimie; Bryant, Dale; ... Kinsler, Veronica; + view all (2023) Mosaic BRAF fusions are a recurrent cause of congenital melanocytic naevi targetable by MEK inhibition. Journal of Investigative Dermatology 10.1016/j.jid.2023.06.213. (In press). Green open access
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Martínez Carrasco, Alejandro; Real, Raquel; Lawton, Michael; Hertfelder Reynolds, Regina; Tan, Manuela; Wu, Lesley; Williams, Nigel; ... Morris, Huw R; + view all (2023) Genome-wide Analysis of Motor Progression in Parkinson Disease. Neurology Genetics , 9 (5) , Article e200092. 10.1212/NXG.0000000000200092. Green open access
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McCormick, Elizabeth M; Keller, Kierstin; Taylor, Julie P; Coffey, Alison J; Shen, Lishuang; Krotoski, Danuta; Harding, Brian; ... Rahman, Shamima; + view all (2023) Expert Panel Curation of 113 Primary Mitochondrial Disease Genes for the Leigh Syndrome Spectrum. Annals of Neurology 10.1002/ana.26716. (In press). Green open access
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McGlacken-Byrne, Sinéad M.; (2023) Genetic mechanisms of human ovary development and function: A life course approach. Doctoral thesis (Ph.D), UCL (University College London).

Mendes Martins, Tiago Filipe; (2023) Elucidating the role of G-Protein Coupled Receptors (GPCRs) via multi-omics analyses in Bardet-Biedl Syndrome. Doctoral thesis (Ph.D), UCL (University College London). Green open access
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Messina, M; Gissen, P; (2023) Atidarsagene autotemcel for metachromatic leukodystrophy. Drugs of Today , 59 (2) pp. 63-70. 10.1358/dot.2023.59.2.3461911. Green open access
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Messina, Martina; Manea, Emanuela; Cullup, Thomas; Tuschl, Karin; Batzios, Spyros; (2023) Hyperphosphatasia with mental retardation syndrome 3: Cerebrospinal fluid abnormalities and correction with pyridoxine and Folinic acid. JIMD Reports , 64 (1) pp. 42-52. 10.1002/jmd2.12347. Green open access
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Meulmeester, FL; Luo, J; Martens, LG; Mills, K; van Heemst, D; Noordam, R; (2023) Antioxidant Supplementation in Oxidative Stress-Related Diseases: What Have We Learned from Studies on Alpha-Tocopherol? Antioxidants , 11 (12) , Article 2322. 10.3390/antiox11122322. Green open access
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Michailidis, Fanourios Nikolaos; (2023) In vitro modelling and high-throughput drug screening for sporadic arteriovenous malformations. Doctoral thesis (Ph.D), UCL (University College London).

Morfopoulou, Sofia; Buddle, Sarah; Montaguth, Oscar Enrique Torres; Atkinson, Laura; Guerra-Assunção, José Afonso; Marjaneh, Mahdi Moradi; Chiozzi, Riccardo Zenezini; ... Breuer, Judith; + view all (2023) Genomic investigations of unexplained acute hepatitis in children. Nature 10.1038/s41586-023-06003-w. (In press). Green open access
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N

Nickel, Miriam; Gissen, Paul; Greenaway, Rebecca; Cappelletti, Simona; Hamborg, Christiane; Ragni, Benedetta; Ribitzki, Tanja; ... Specchio, Nicola; + view all (2023) Language Delay in Patients with CLN2 Disease: Could It Support Earlier Diagnosis? Neuropediatrics 10.1055/s-0043-1770143. (In press). Green open access
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Nikolaenko, Valeria; (2023) The study of glycosphingolipids and their role in cell toxicity and neurodegeneration using mass spectrometry. Doctoral thesis (Ph.D), UCL (University College London). Green open access
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Nikolaenko, Valeria; Warnock, David G; Mills, Kevin; Heywood, Wendy E; (2023) Elucidating the toxic effect and disease mechanisms associated with Lyso-Gb3 in Fabry disease. Human Molecular Genetics , Article ddad073. 10.1093/hmg/ddad073. (In press). Green open access
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Nyangiri, Oscar Asanya; Mulindwa, Julius; Namulondo, Joyce; Kitibwa, Anna; Nassuuna, Jacent; Elliott, Alison; Kimuda, Magambo Phillip; ... TrypanoGEN+ Research group of the H3Africa consortium; + view all (2023) Variants of IL6, IL10, FCN2, RNASE3, IL12B and IL17B loci are associated with Schistosoma mansoni worm burden in the Albert Nile region of Uganda. PLOS Neglected Tropical Diseases , 17 (11) , Article e0011796. 10.1371/journal.pntd.0011796. Green open access
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O

Ofrim, Marisa; Little, Daniel; Nazari, Mina; Minnis, Christopher J; Devine, Michael J; Mole, Sara E; Gissen, Paul; (2023) Characterization of two human induced pluripotent stem cell lines derived from Batten disease patient fibroblasts harbouring CLN5 mutations. Stem Cell Research , 74 , Article 103291. 10.1016/j.scr.2023.103291. Green open access
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Ortiz, Arturo Torres; Kendall, Michelle; Storey, Nathaniel; Hatcher, James; Dunn, Helen; Roy, Sunando; Williams, Rachel; ... Grandjean, Louis; + view all (2023) Within-host diversity improves phylogenetic and transmission reconstruction of SARS-CoV-2 outbreaks. eLife , Article e84384. 10.7554/eLife.84384. (In press). Green open access
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P

Peter, Michelle; Hammond, Jennifer; Sanderson, Saskia C; Gurasashvili, Jana; Hunter, Amy; Searle, Beverly; Patch, Christine; ... Lewis, Celine; + view all (2023) Knowledge, attitudes and decision regret: a longitudinal survey study of participants offered genome sequencing in the 100,000 Genomes Project. European Journal of Human Genetics 10.1038/s41431-023-01470-1. (In press). Green open access
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Peters, Verena; Baumgartner, Matthias; Froese, Sean; Morava, Eva; Patterson, Marc; Zschocke, Johannes; Rahman, Shamima; (2023) Risk and potential of ChatGPT in scientific publishing. Journal of Inherited Metabolic Diseases , 46 (6) 10.1002/jimd.12666.

Picker, Sarah MacKenzie; Parker, George; Gissen, Paul; (2023) Features of Congenital Arthrogryposis Due to Abnormalities in Collagen Homeostasis, a Scoping Review. International Journal of Molecular Sciences , 24 (17) , Article 13545. 10.3390/ijms241713545. Green open access
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Poole, Rebecca L; Badonyi, Mihaly; Cozens, Alison; Foulds, Nicola; Marsh, Joseph A; Rahman, Shamima; Ross, Alison; ... Lampe, Anne; + view all (2023) Expanding the neurodevelopmental phenotype associated with HK1 de novo heterozygous missense variants. European Journal of Medical Genetics , 66 (3) , Article 104696. 10.1016/j.ejmg.2023.104696. Green open access
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R

Relton, EL; Roth, NJ; Yasa, S; Kaleem, A; Hermey, G; Minnis, CJ; Mole, SE; ... Locker, N; + view all (2023) The Batten disease protein CLN3 is important for stress granules dynamics and translational activity. Journal of Biological Chemistry , 299 (5) , Article 104649. 10.1016/j.jbc.2023.104649. Green open access
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Reynolds, Regina H; Wagen, Aaron Z; Lona-Durazo, Frida; Scholz, Sonja W; Shoai, Maryam; Hardy, John; Gagliano Taliun, Sarah A; (2023) Local genetic correlations exist among neurodegenerative and neuropsychiatric diseases. npj Parkinson's Disease , 9 , Article 70. 10.1038/s41531-023-00504-1. Green open access
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Rumman, Nisreen; Fassad, Mahmoud R; Driessens, Corine; Goggin, Patricia; Abdelrahman, Nader; Adwan, Adel; Albakri, Mutaz; ... Lucas, Jane S; + view all (2023) The Palestinian primary ciliary dyskinesia population: first results of the diagnostic, and genetic spectrum. ERJ Open Research , 9 00714-2022. 10.1183/23120541.00714-2022. Green open access
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S

Salih, Ahmed; Ardissino, Maddalena; Wagen, Aaron Z; Bard, Andrew; Szabo, Liliana; Ryten, Mina; Petersen, Steffen E; ... Raisi‐Estabragh, Zahra; + view all (2023) Genome‐Wide Association Study of Pericardial Fat Area in 28 161 UK Biobank Participants. Journal of the American Heart Association , 12 , Article e030661. 10.1161/jaha.123.030661. Green open access
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Schreglmann, Sebastian R; Goncalves, Tomas; Grant-Peters, Melissa; Kia, Demis A; Soreq, Lilach; Ryten, Mina; Wood, Nicholas W; ... Tomita, Kazunori; + view all (2023) Age-related telomere attrition in the human putamen. Aging Cell , Article e13861. 10.1111/acel.13861. (In press). Green open access
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Seda, M; Crespo, B; Corcelli, M; Osborn, DP; Jenkins, D; (2023) A CRISPR/Cas9-generated mutation in the zebrafish orthologue of PPP2R3B causes idiopathic scoliosis. Scientific Reports , 13 (1) , Article 6783. 10.1038/s41598-023-33589-y. Green open access
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Seker Yilmaz, Berna; Baruteau, Julien; Chakrapani, Anupam; Champion, Michael; Chronopoulou, Efstathia; Claridge, Lee C; Daly, Anne; ... Gissen, Paul; + view all (2023) Liver transplantation in ornithine transcarbamylase deficiency: A retrospective multicentre cohort study. Molecular Genetics and Metabolism Reports , 37 , Article 101020. 10.1016/j.ymgmr.2023.101020. (In press). Green open access
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Seker Yilmaz, Berna; Gissen, Paul; (2023) AAV-mediated gene therapy for rare metabolic disorders: turning a promise into a reality. The Biochemist , 45 (4) pp. 2-5. 10.1042/bio_2023_128. Green open access
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Seker Yilmaz, Berna; Gissen, Paul; (2023) Genetic Therapy Approaches for Ornithine Transcarbamylase Deficiency. Biomedicines , 11 (8) , Article 2227. 10.3390/biomedicines11082227. Green open access
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Seker Yilmaz, Berna; Gissen, Paul; (2023) Targeting the liver to treat the eye. EMBO Molecular Medicine , Article e17285. 10.15252/emmm.202217285. Green open access
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Siranosian, Jennifer; Lewis, Celine; Hill, Melissa; Ormond, Kelly E; (2023) Exploring prenatal testing preferences among US pregnant individuals: A discrete choice experiment. Journal of Genetic Counseling 10.1002/jgc4.1777. (In press). Green open access
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Sivananthan, Siyamini; Lee, Laura; Anderson, Glenn; Csanyi, Barbara; Williams, Ruth; Gissen, Paul; (2023) Buffy Coat Score as a Biomarker of Treatment Response in Neuronal Ceroid Lipofuscinosis Type 2. Brain Sciences , 13 (2) , Article 209. 10.3390/brainsci13020209. Green open access
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Spiewak, Justyna; Doykov, Ivan; Papandreou, Apostolos; Hällqvist, Jenny; Mills, Philippa; Clayton, Peter T; Gissen, Paul; ... Heywood, Wendy E; + view all (2023) New Perspectives in Dried Blood Spot Biomarkers for Lysosomal Storage Diseases. International Journal of Molecular Sciences , 24 (12) , Article 10177. 10.3390/ijms241210177. Green open access
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Stone, Thomas J; Mankad, Kshitij; Tan, AI Peng; Jan, Wajanat; Pickles, Jessica C; Gogou, Maria; Chalker, Jane; ... Jacques, Thomas S; + view all (2023) DNA methylation-based classification of glioneuronal tumours synergises with histology and radiology to refine accurate molecular stratification. Neuropathology and Applied Neurobiology , 49 (2) , Article e12894. 10.1111/nan.12894. Green open access
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Sturm, Gabriel; Karan, Kalpita R; Monzel, Anna S; Santhanam, Balaji; Taivassalo, Tanja; Bris, Céline; Ware, Sarah A; ... Picard, Martin; + view all (2023) OxPhos defects cause hypermetabolism and reduce lifespan in cells and in patients with mitochondrial diseases. Communications Biology , 6 , Article 22. 10.1038/s42003-022-04303-x. Green open access
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Suntharalingham, Jenifer P; Ishida, Miho; Cameron-Pimblett, Antoinette; McGlacken-Byrne, Sinead M; Buonocore, Federica; Del Valle, Ignacio; Madhan, Gaganjit Kaur; ... Achermann, John C; + view all (2023) Analysis of genetic variability in Turner syndrome linked to long-term clinical features. Frontiers in Endocrinology , 14 , Article 1227164. 10.3389/fendo.2023.1227164. Green open access
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T

Tagoe, Hephzi; Hassan, Sakinah; Bliss, Emily; Youssef, Gehad; Heywood, Wendy; Mills, Kevin; Harper, John; (2023) Chronic activation of Toll-like receptor 2 induces an ichthyotic skin phenotype. British Journal of Dermatology 10.1093/bjd/ljad095. (In press). Green open access
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Touramanidou, Loukia; (2023) Lentiviral Gene Therapy for Argininosuccinic Aciduria. Doctoral thesis (Ph.D), UCL (University College London).

W

Waddington, Simon N; Peranteau, William H; Rahim, Ahad A; Boyle, Ashley K; Kurian, Manju A; Gissen, Paul; Chan, Jerry KY; (2023) Fetal gene therapy. Journal of Inherited Metabolic Disease 10.1002/jimd.12659. (In press). Green open access
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Walker, Amy J; Graham, Carina; Greenwood, Miriam; Woodall, Maximillian; Maeshima, Ruhina; O’Hara-Wright, Michelle; Sanz, David J; ... Hart, Stephen L; + view all (2023) Molecular and functional correction of a deep intronic splicing mutation in CFTR by CRISPR-Cas9 gene editing. Molecular Therapy - Methods & Clinical Development , 31 , Article 101140. 10.1016/j.omtm.2023.101140. (In press). Green open access
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Wang, Baihan; Otten, Leun J; Schulze, Katja; Afrah, Hana; Varney, Lauren; Cotic, Marius; Saadullah Khani, Noushin; ... Bramon, Elvira; + view all (2023) Is auditory processing measured by the N100 an endophenotype for psychosis? A family study and a meta-analysis. Psychological Medicine 10.1017/S0033291723003409. (In press). Green open access
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Wawrzynski, James; Martinez, Ana Rodriguez; Thompson, Dorothy Ann; Ram, Dipak; Bowman, Richard; Whiteley, Rebecca; Gan, Chin; ... Henderson, Robert H; + view all (2023) First in man study of intravitreal tripeptidyl peptidase 1 for CLN2 retinopathy. Eye 10.1038/s41433-023-02859-4. (In press). Green open access
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Westhaus, Adrian; Cabanes Creus, Marti; Dilworth, Kimberley L; Zhu, Erhua; Salas, David; Navarro, Renina Gale; Amaya, Anais Karime; ... Lisowski, Leszek; + view all (2023) Assessment of pre-clinical liver models based on their ability to predict the liver-tropism of AAV vectors. Human Gene Therapy , 34 (7-8) pp. 273-288. 10.1089/hum.2022.188. Green open access
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Whitehouse, Abigail; Rehsi, Preeya; Hartley, Louise; Grunewald, Stephanie; Yilmaz, Berna Seker; Pegoretti Baruteau, Kelly; Yaman, Ayhan; ... Baruteau, Julien; + view all (2023) Prolonged respiratory failure responds to conventional therapy in isolated homocysteine remethylation defects. JIMD Reports , 64 (4) pp. 274-281. 10.1002/jmd2.12375. Green open access
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Wilson, Lindsay A; Macken, William L; Perry, Luke D; Record, Christopher J; Schon, Katherine R; Frezatti, Rodrigo SS; Raga, Sharika; ... Hanna, Michael G; + view all (2023) Neuromuscular disease genetics in under-represented populations: increasing data diversity. Brain , Article awad254. 10.1093/brain/awad254. (In press). Green open access
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Z

Zamanipoor Najafabadi, Amir H; van der Meulen, Merel; Priego Zurita, Ana Luisa; Ahmed, S Faisal; van Furth, Wouter R; Charmandari, Evangelia; Hiort, Olaf; ... MTG6 Pituitary of Endo-ERN; + view all (2023) Starting point for benchmarking outcomes and reporting of pituitary adenoma surgery within the European Reference Network on Rare Endocrine Conditions (Endo-ERN): results from a meta-analysis and survey study. Endocrine Connections , 12 (1) , Article e220349. 10.1530/EC-22-0349. Green open access
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Zecchin, Davide; Knöpfel, Nicole; Gluck, Anna K; Stevenson, Mark; Sauvadet, Aimie; Polubothu, Satyamaanasa; Barberan-Martin, Sara; ... Kinsler, Veronica A; + view all (2023) GNAQ/GNA11 Mosaicism Causes Aberrant Calcium Signaling Susceptible to Targeted Therapeutics. Journal of Investigative Dermatology 10.1016/j.jid.2023.08.028. (In press). Green open access
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Zhou, Haiyan; Arechavala-Gomeza, Virginia; Garanto, Alejandro; (2023) Experimental Model Systems Used in the Preclinical Development of Nucleic Acid Therapeutics. Nucleic Acid Therapeutics 10.1089/nat.2023.0001. (In press). Green open access
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Zolkwer, Morgan B; Whitehouse, Jodi; Sanderson, Saskia C; Kinsler, Veronica A; (2023) Impact of public exhibition on the perception of birthmarks. Pediatric Dermatology 10.1111/pde.15315. (In press). Green open access
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This list was generated on Sun Feb 25 23:38:41 2024 GMT.