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Number of items: 28.
Article
Alhamdi, Alaa A;
Mackie, Shona;
Trueman, Ryan P;
Rayner, Melissa LD;
(2025)
Pharmacologically targeting Schwann cells to improve regeneration following nerve damage.
Frontiers in Cell and Developmental Biology
, 13
, Article 1603752. 10.3389/fcell.2025.1603752.
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Biswas, A;
Soo, AKS;
Kurian, MA;
Löbel, U;
D'Arco, F;
Batzios, S;
Sudhakar, S;
... Aquilina, K; + view all
(2025)
Imaging readiness in the gene therapy era-exploring standardized protocols for response assessment.
Journal of Inherited Metabolic Disease
, 48
(1)
, Article e12828. 10.1002/jimd.12828.
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Buonocore, Federica;
Suntharalingham, Jenifer P;
Ogunbiyi, Olumide K;
Jones, Aragorn;
Moreno, Nadjeda;
Niola, Paola;
Brooks, Tony;
... Achermann, John C; + view all
(2025)
Transcriptomic sex differences in early human fetal brain development.
Communications Biology
, 8
, Article 664. 10.1038/s42003-025-08070-3.
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Calame, DG;
Wong, JH;
Panda, P;
Nguyen, DT;
Leong, NCP;
Sangermano, R;
Patankar, SG;
... Nguyen, LN; + view all
(2025)
Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a severe developmental disorder spectrum.
Genetics in Medicine
, 27
(1)
, Article 101273. 10.1016/j.gim.2024.101273.
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Chelban, Viorica;
Pellerin, David;
Vijiaratnam, Nirosen;
Lee, Hamin;
Goh, Yen Yee;
Brown, Lauren;
Sambin, Sara;
... Houlden, Henry; + view all
(2025)
Intronic FGF14 GAA repeat expansions impact progression and survival in multiple system atrophy.
Brain
, Article awaf134. 10.1093/brain/awaf134.
(In press).
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Cipriani, V;
Vestito, L;
Magavern, EF;
Jacobsen, JOB;
Arno, G;
Behr, ER;
Benson, KA;
... Smedley, D; + view all
(2025)
Rare disease gene association discovery in the 100,000 Genomes Project.
Nature
10.1038/s41586-025-08623-w.
(In press).
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Farrell, C;
Buhidma, Y;
Mumford, P;
Heywood, WE;
Hällqvist, J;
Flores-Aguilar, L;
Andrews, EJ;
... Wiseman, FK; + view all
(2025)
Apolipoprotein E abundance is elevated in the brains of individuals with Down syndrome-Alzheimer's disease.
Acta Neuropathologica
, 149
(1)
, Article 49. 10.1007/s00401-025-02889-0.
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Footitt, Emma J;
Millington, Chloe;
Newsom-Davis, Imogen;
Mills, Philippa;
Khalil, Youssef;
Clayton, Peter T;
Dixon, Marjorie;
(2025)
Use of lysine reduction therapies in patients with pyridoxine dependent epilepsy due to Antiquitin deficiency – A cohort study.
Molecular Genetics and Metabolism
, Article 109170. 10.1016/j.ymgme.2025.109170.
(In press).
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Grünert, Sarah C;
Baumgartner, Matthias R;
Bouchereau, Juliette;
Burlina, Alberto;
Clayton, Peter T;
Heras, Javier de Las;
Dionisi-Vici, Carlo;
... Sass, Jörn Oliver; + view all
(2025)
Mitochondrial 3-hydroxy-3-methylglutaryl-coenzyme A synthase deficiency: From metabolism to clinical implications.
Genetics in Medicine
, 27
(9)
, Article 101484. 10.1016/j.gim.2025.101484.
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Henke, Larissa;
Ghorbani, Ali;
Mole, Sara E;
(2025)
The use of nanocarriers in treating Batten disease: A systematic review.
International Journal of Pharmaceutics
, 670
, Article 125094. 10.1016/j.ijpharm.2024.125094.
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Howell, KB;
White, SM;
McTague, A;
D’Gama, AM;
Costain, G;
Poduri, A;
Scheffer, IE;
... Scherer, SW; + view all
(2025)
International Precision Child Health Partnership (IPCHiP): an initiative to accelerate discovery and improve outcomes in rare pediatric disease.
npj Genomic Medicine
, 10
, Article 13. 10.1038/s41525-025-00474-8.
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Knopfel, Nicole;
Kuentz, Paul;
Mitra, Angana;
Ogunbiyi, Olumide;
Communie, Antoine;
Vabres, Pierre;
Muinonen-Martin, Andrew;
... Kinsler, Veronica A; + view all
(2025)
Segmental corymbiform congenital melanocytic naevi: Implications for melanocytic embryology.
Journal of The European Academy of Dermatology and Venereology
10.1111/jdv.20661.
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Laß, Joshua;
Thomsen, Mirja;
Borsche, Max;
Lüth, Theresa;
Prietzsche, Julia C;
Schaake, Susen;
Milovanović, Andona;
... Trinh, Joanne; + view all
(2025)
FGF14 repeat length and mosaic interruptions: modifiers of spinocerebellar ataxia 27B?
Brain
, Article awaf183. 10.1093/brain/awaf183.
(In press).
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McGlacken-Byrne, Sinead M;
Del Valle, Ignacio;
Xenakis, Theodoros;
Simcock, Ian C;
Suntharalingham, Jenifer P;
Buonocore, Federica;
Crespo, Berta;
... Achermann, John C; + view all
(2025)
Mapping the anatomical and transcriptional landscape of early human fetal ovary development.
Scientific Reports
, 15
, Article 15814. 10.1038/s41598-025-96135-y.
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McGlacken-Byrne, Sinead M;
Del Valle, Ignacio;
Xenakis, Theodoros;
Suntharalingham, Jenifer P;
Nel, Lydia;
Liptrot, Danielle;
Crespo, Berta;
... Achermann, John C; + view all
(2025)
Characterizing the Human Fetal Perimeiotic 45,X Ovary at Single-Cell Resolution.
Journal of the Endocrine Society
, 9
(7)
, Article bvaf094. 10.1210/jendso/bvaf094.
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McGlacken-Byrne, Sinead M;
Suntharalingham, Jenifer P;
Ishida, Miho;
Buonocore, Federica;
del Valle, Ignacio;
Cameron-Pimblett, Antoinette;
Dattani, Mehul T;
... Conway, Gerard S; + view all
(2025)
A Tiered Approach to Exome Sequencing Analysis in Early-Onset Primary Ovarian Insufficiency.
The Journal of Clinical Endocrinology & Metabolism
, Article dgaf124. 10.1210/clinem/dgaf124.
(In press).
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Mole, Sara E;
Gissen, Paul;
Nordstrom, Shannon;
Wait, Suzanne;
Allen, Loise;
Antonini, Mathilda;
Brownnutt, Liz;
... Nightingale, Joanna; + view all
(2025)
Evidence of the impact of CLN2 and CLN3
Batten disease on families in the United
Kingdom.
Orphanet Journal of Rare Diseases
, 20
, Article 223. 10.1186/s13023-025-03747-8.
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Mole, SE;
Gardner, E;
Mason, HL;
(2025)
How can real-world data, registries, and databases address the challenges of rare diseases?
Medical Writing
, 34
(1)
pp. 46-50.
10.56012/kwle5627.
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Patterson, Marc C;
Ramaswami, Uma;
Donald, Aimee;
Foltan, Tomas;
Gautschi, Matthias;
Gissen, Paul;
Hahn, Andreas;
... Bremova-Ertl, Tatiana; + view all
(2025)
Disease-Modifying, Neuroprotective Effect of N-Acetyl-l-Leucine in Adult and Pediatric Patients With Niemann-Pick Disease Type C.
Neurology
, 105
(1)
, Article e213589. 10.1212/WNL.0000000000213589.
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Smith, Emma J;
Hill, Melissa;
Chitty, Lyn S;
Morris, Stephen;
(2025)
Costs and cost-effectiveness of returning secondary findings from genomic sequencing based on the return of additional findings in the 100,000 Genomes Project.
Genetics in Medicine
, Article 101479. 10.1016/j.gim.2025.101479.
(In press).
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Stafford-Smith, Bethany;
Daniel, Morgan;
Peter, Michelle;
Gurasashvili, Jana;
Baptiste, Rashida;
Bracke-Manzanares, Xavier;
Georgiou, Lamprini;
... Hill, Melissa; + view all
(2025)
Evaluating the return of additional findings from the 100,000 Genomes Project: A mixed methods study exploring participant experiences of receiving secondary findings from genomic sequencing.
Genetics in Medicine
, Article 101446. 10.1016/j.gim.2025.101446.
(In press).
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Stone, Thomas J;
Pickles, Jessica C;
Ogunbiyi, Olumide;
Yasin, Shireena A;
Taylor, Catherine A;
Ahmed, Saira W;
Chalker, Jane;
... Jacques, Thomas S; + view all
(2025)
The tumour microenvironment of pilocytic astrocytoma evolves over time via enrichment for microglia.
Acta Neuropathologica Communications
, 13
, Article 30. 10.1186/s40478-024-01922-9.
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Suntharalingham, Jenifer P;
Del Valle, Ignacio;
Buonocore, Federica;
McGlacken-Byrne, Sinead M;
Brooks, Tony;
Ogunbiyi, Olumide K;
Liptrot, Danielle;
... Achermann, John C; + view all
(2025)
The transcriptomic landscape of monosomy X (45,X) during early human fetal and placental development.
Communications Biology
, 8
, Article 249. 10.1038/s42003-025-07699-4.
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Torres-Masjoan, Laia;
Aguti, Sara;
Zhou, Haiyan;
Muntoni, Francesco;
(2025)
Clinical applications of exon skipping antisense oligonucleotides in neuromuscular diseases.
Molecular Therapy
10.1016/j.ymthe.2025.04.038.
(In press).
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Vacante, Francesca;
Sanchez-Esteban, Sandra;
Tsarouchas, Themistoklis;
Rodor, Julie;
Bennett, Matthew;
Carroll, Melissa S;
Beqqali, Abdelaziz;
(2025)
Effective Transcriptional Induction of the CARMN/miR-143/145 Complex Locus in Smooth Muscle Cells Using CRISPR Activation.
Arteriosclerosis, Thrombosis, and Vascular Biology
10.1161/atvbaha.124.322353.
(In press).
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Varhaug, Kristin N;
Aanestad, Eivind;
Holmaas, Gunhild;
Wollertsen, Yvonne Myrtvedt;
Berland, Siren;
Veiby, Gyri;
Eichele, Tom;
... Hikmat, Omar; + view all
(2025)
The impact of induced burst suppression on outcomes in patients with POLG-related status epilepticus.
Seizure: European Journal of Epilepsy
10.1016/j.seizure.2025.05.004.
(In press).
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Thesis
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Alhawaj, Ali Fouad Yassin;
(2025)
Integrative Genomic Analysis of Cytogenetically Normal Acute Myeloid Leukaemia.
Doctoral thesis (Ph.D), UCL (University College London).
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Schlosser, Corinna Silvia;
(2025)
Advanced delivery systems to address current challenges of polypeptide formulations.
Doctoral thesis (Ph.D), UCL (University College London).
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