Browse by UCL Departments and Centres
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Number of items: 94.
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.
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B
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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.
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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).
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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.
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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).
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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).
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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.
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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.
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C
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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.
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Cozmescu, Andrei Claudiu;
(2023)
Liver directed lentiviral gene therapy for ARC syndrome.
Doctoral thesis (Ph.D), UCL (University College London).
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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.
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D
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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.
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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.
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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).
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E
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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).
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F
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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.
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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).
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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.
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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.
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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.
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G
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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).
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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.
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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.
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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).
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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.
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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.
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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.
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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.
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Guri-Lamce, Ina;
AlRokh, Yara;
Kim, Youngah;
Maeshima, Ruhina;
Graham, Carina;
Hart, Stephen L;
McGrath, John A;
(2023)
Topical gene editing therapeutics using lipid nanoparticles: 'gene creams' for genetic skin diseases?
British Journal of Dermatology
10.1093/bjd/ljad528.
(In press).
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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).
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H
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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.
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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).
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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.
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I
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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.
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K
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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.
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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.
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Keshavan, Nandaki;
(2023)
Gene therapy for Deoxyguanosine Kinase Deficiency.
Doctoral thesis (Ph.D), UCL (University College London).
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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.
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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).
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L
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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.
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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.
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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.
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M
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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.
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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.
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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).
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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).
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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.
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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).
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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).
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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).
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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.
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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.
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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.
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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).
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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).
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N
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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).
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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).
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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).
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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.
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O
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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.
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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).
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P
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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).
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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.
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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
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Genome‐Wide Association Study of Pericardial Fat Area in 28 161 UK Biobank Participants.
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Liver transplantation in ornithine transcarbamylase deficiency: A retrospective multicentre cohort study.
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Targeting the liver to treat the eye.
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New Perspectives in Dried Blood Spot Biomarkers for Lysosomal Storage Diseases.
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DNA methylation-based classification of glioneuronal tumours synergises with histology and radiology to refine accurate molecular stratification.
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Analysis of genetic variability in Turner syndrome linked to long-term clinical features.
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Molecular and functional correction of a deep intronic splicing mutation in CFTR by CRISPR-Cas9 gene editing.
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Is auditory processing measured by the N100 an endophenotype for psychosis? A family study and a meta-analysis.
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First in man study of intravitreal tripeptidyl peptidase 1 for CLN2 retinopathy.
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