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 | F | G | H | K | L | M | P | S | T | V
Number of items: 28.

A

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. Green open access
file

Alhawaj, Ali Fouad Yassin; (2025) Integrative Genomic Analysis of Cytogenetically Normal Acute Myeloid Leukaemia. Doctoral thesis (Ph.D), UCL (University College London). Green open access
file

B

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.

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. Green open access
file

C

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.

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). Green open access
file

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). Green open access
file

F

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. Green open access
file

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).

G

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. Green open access
file

H

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. Green open access
file

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. Green open access
file

K

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. Green open access
file

L

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). Green open access
file

M

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. Green open access
file

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. Green open access
file

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). Green open access
file

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. Green open access
file

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. Green open access
file

P

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. Green open access
file

S

Schlosser, Corinna Silvia; (2025) Advanced delivery systems to address current challenges of polypeptide formulations. Doctoral thesis (Ph.D), UCL (University College London). Green open access
file

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). Green open access
file

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). Green open access
file

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. Green open access
file

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. Green open access
file

T

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).

V

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). Green open access
file

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).

This list was generated on Mon Oct 13 03:29:27 2025 BST.