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Number of items: 36.

A

Ali, Naseer; Maharaj, Avinaash Vickram; Buonocore, Federica; Achermann, John C; Metherell, Louise A; (2022) Can Digenic, Tri-Allelic Inheritance of Variants in STAR and CYP11A1 Give Rise to Primary Adrenal Insufficiency? A Case Report. Frontiers in Endocrinology , 13 , Article 860055. 10.3389/fendo.2022.860055. Green open access
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B

Bacq, A; Roussel, D; Bonduelle, T; Zagaglia, S; Maletic, M; Ribierre, T; Adle-Biassette, H; ... Baulac, S; + view all (2022) Cardiac investigations in sudden unexpected death in DEPDC5-related epilepsy. Annals of Neurology , 91 (1) pp. 101-116. 10.1002/ana.26256. Green open access
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Baptiste, C; Mellis, R; Aggarwal, V; Lord, J; Eberhardt, R; Kilby, MD; Maher, ER; ... Chitty, LS; + view all (2022) Fetal central nervous system anomalies: When should we offer exome sequencing? Prenatal Diagnosis 10.1002/pd.6145. (In press).

Birkeland, Nina Asheim; Carlsen, Viel Nyborg; Gulati, Sasha; Gustavsson, Emil K; Aasly, Jan O; (2022) Deep brain stimulation in a Parkinson's disease patient with calcifications and a mutation in the SLC20A2 gene. Parkinsonism & Related Disorders 10.1016/j.parkreldis.2022.01.019. (In press).

Bolton, SC; Soran, V; Marfa, MP; Imrie, J; Gissen, P; Jahnova, H; Sharma, R; ... Geberhiwot, T; + view all (2022) Clinical disease characteristics of patients with Niemann-Pick Disease Type C: findings from the International Niemann-Pick Disease Registry (INPDR). Orphanet Journal of Rare Diseases , 17 (1) , Article 51. 10.1186/s13023-022-02200-4. Green open access
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Bryant, Dale; Pauzuolyte, Valda; Ingham, Neil J; Patel, Aara; Pagarkar, Waheeda; Anderson, Lucy A; Smith, Katie E; ... Bitner-Glindzicz, Maria; + view all (2022) The timing of auditory sensory deficits in Norrie disease has implications for therapeutic intervention. JCI Insight , 7 (3) , Article e148586. 10.1172/jci.insight.148586. Green open access
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Buchanan, James; Hill, Melissa; Vass, Caroline M; Hammond, Jennifer; Riedijk, Sam; Klapwijk, Jasmijn E; Harding, Eleanor; ... Lewis, Celine; + view all (2022) Factor's that impact on women's decision-making around prenatal genomic tests: An international discrete choice survey. Prenatal Diagnosis 10.1002/pd.6159. (In press). Green open access
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Burlina, A; Jones, SA; Chakrapani, A; Church, HJ; Heales, S; Wu, THY; Morton, G; ... Cheillan, D; + view all (2022) A New Approach to Objectively Evaluate Inherited Metabolic Diseases for Inclusion on Newborn Screening Programmes. International Journal of Neonatal Screening , 8 (2) , Article 25. 10.3390/ijns8020025. Green open access
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C

Cerbone, Manuela; Katugampola, Harshini; Simpson, Helen L; Dattani, Mehul T; (2022) APPROACH TO THE PATIENT: Management of pituitary hormone replacement through transition. The Journal of Clinical Endocrinology & Metabolism , Article dgac129. 10.1210/clinem/dgac129. (In press).

Craven, Claudia L; Gissen, Paul; Bower, Rebecca; Lee, Laura; Aquilina, Kristian; Thompson, Dominic NP; (2022) A survival analysis of ventricular access devices for delivery of cerliponase alfa. Journal of Neurosurgery: Pediatrics , 29 (1) pp. 115-121. 10.3171/2021.7.PEDS21129.

H

Hill, Melissa; Ellard, Sian; Fisher, Jane; Fulop, Naomi; Knight, Marian; Kroese, Mark; Ledger, Jean; ... Chitty, Lyn; + view all (2022) Optimising Exome Prenatal Sequencing Services (EXPRESS): a study protocol to evaluate rapid prenatal exome sequencing in the NHS Genomic Medicine Service. NIHR Open Research , 2 , Article 10. 10.3310/nihropenres.13247.1. Green open access
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I

Iwan, K; Patel, N; Heslegrave, A; Borisova, M; Lee, L; Bower, R; Mole, S; ... Heywood, W; + view all (2022) Cerebrospinal fluid neurofilament light chain levels in CLN2 disease patients treated with enzyme replacement therapy normalise after two years on treatment [version 2; peer review: 1 approved, 1 approved with reservations]. F1000Research , 10 , Article 614. 10.12688/f1000research.54556.2. Green open access
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J

Jones, SA; Cheillan, D; Chakrapani, A; Church, HJ; Heales, S; Wu, THY; Morton, G; ... Burlina, A; + view all (2022) Application of a Novel Algorithm for Expanding Newborn Screening for Inherited Metabolic Disorders across Europe. International Journal of Neonatal Screening , 8 (1) , Article 20. 10.3390/ijns8010020. Green open access
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K

Karaa, Amel; MacMullen, Laura E; Campbell, John C; Christodoulou, John; Cohen, Bruce H; Klopstock, Thomas; Koga, Yasutoshi; ... Falk, Marni J; + view all (2022) Community Consensus Guidelines to Support FAIR Data Standards in Clinical Research Studies in Primary Mitochondrial Disease. Advanced Genetics , 3 (1) , Article 2100047. 10.1002/ggn2.202100047. Green open access
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Keshavan, Nandaki; Wood, Michelle; Alderson, Lucy M; Cortina-Borja, Mario; Skeath, Rachel; McSweeney, Mel; Dixon, Marjorie; ... Batzios, Spyros; + view all (2022) Clinical status, biochemical profile and management of a single cohort of patients with arginase deficiency. JIMD Reports , 63 (2) pp. 123-130. 10.1002/jmd2.12266. Green open access
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Khalil, Y; Carrino, S; Lin, F; Ferlin, A; Lad, HV; Mazzacuva, F; Falcone, S; ... Clayton, PT; + view all (2022) Tissue Proteome of 2-Hydroxyacyl-CoA Lyase Deficient Mice Reveals Peroxisome Proliferation and Activation of ω-Oxidation. International Journal of Molecular Sciences , 23 (2) , Article 987. 10.3390/ijms23020987. Green open access
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L

Lewis, Celine; Buchanan, James; Clarke, Angus; Clement, Emma; Friedrich, Bettina; Hastings-Ward, Jillian; Hill, Melissa; ... Lakhanpaul, Monica; + view all (2022) Mixed-methods evaluation of the NHS Genomic Medicine Service for paediatric rare diseases: study protocol. NIHR Open Research , 1 , Article 23. 10.3310/nihropenres.13236.2. Green open access
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Lopez-Fabuel, Irene; Garcia-Macia, Marina; Buondelmonte, Costantina; Burmistrova, Olga; Bonora, Nicolo; Alonso-Batan, Paula; Morant-Ferrando, Brenda; ... Bolaños, Juan P; + view all (2022) Aberrant upregulation of the glycolytic enzyme PFKFB3 in CLN7 neuronal ceroid lipofuscinosis. Nature Communications , 13 , Article 536. 10.1038/s41467-022-28191-1. Green open access
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M

Maharaj, Avinaash; Güran, Tülay; Buonocore, Federica; Achermann, John C; Metherell, Louise; Prasad, Rathi; Çetinkaya, Semra; (2022) Insights from long term follow-up of a girl with adrenal insufficiency and sphingosine-1-phosphate lyase deficiency. Journal of the Endocrine Society 10.1210/jendso/bvac020. (In press). Green open access
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McGlacken-Byrne, Sinead M; del Valle, Ignacio; Stabej, Polona Le Quesne; Bellutti, Laura; Garcia-Alonso, Luz; Ocaka, Louise A; Ishida, Miho; ... Achermann, John C; + view all (2022) Pathogenic variants in the human m(6)A reader YTHDC2 are associated with primary ovarian insufficiency. JCI Insight , 7 (5) , Article e154671. 10.1172/jci.insight.154671. Green open access
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Mellis, R; Eberhardt, RY; Hamilton, SJ; McMullan, DJ; Kilby, MD; Maher, ER; Hurles, ME; ... Chitty, LS; + view all (2022) Fetal exome sequencing for isolated increased nuchal translucency: should we be doing it? BJOG: An International Journal of Obstetrics & Gynaecology , 129 (1) pp. 52-61. 10.1111/1471-0528.16869. Green open access
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Mellis, Rhiannon; Oprych, Kathryn; Scotchman, Elizabeth; Hill, Melissa; Chitty, Lyn S; (2022) Diagnostic yield of exome sequencing for prenatal diagnosis of fetal structural anomalies: A systematic review and meta-analysis. Prenatal Diagnosis 10.1002/pd.6115. (In press).

Mellis, Rhiannon; Tapon, Dagmar; Shannon, Nora; Dempsey, Esther; Pandya, Pranav; Chitty, Lyn S; Hill, Melissa; (2022) Implementing a rapid fetal exome sequencing service: What do parents and health professionals think? Prenatal Diagnosis 10.1002/pd.6140. (In press).

Meng, Jinhong; Moore, Marc; Counsell, John; Muntoni, Francesco; Popplewell, Linda; Morgan, Jennifer; (2022) Optimized lentiviral vector for restoration of full-length dystrophin via a cell-mediated approach in a mouse model of Duchenne muscular dystrophy. Molecular Therapy: Methods & Clinical Development 10.1016/j.omtm.2022.04.015. (In press). Green open access
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Meoni, G; Tenori, L; Schade, S; Licari, C; Pirazzini, C; Bacalini, MG; Garagnani, P; ... Luchinat, C; + view all (2022) Metabolite and lipoprotein profiles reveal sex-related oxidative stress imbalance in de novo drug-naive Parkinson's disease patients. npj Parkinson's Disease , 8 , Article 14. 10.1038/s41531-021-00274-8. Green open access
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Mitchison, HM; Smedley, D; (2022) Primary ciliary dyskinesia: a big data genomics approach. The Lancet Respiratory Medicine 10.1016/S2213-2600(22)00009-1. (In press). Green open access
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O

Owen, N; Toms, M; Young, RM; Eintracht, J; Sarkar, H; Brooks, BP; Moosajee, M; ... Zarowiecki, M; + view all (2022) Identification of 4 novel human ocular coloboma genes ANK3, BMPR1B, PDGFRA, and CDH4 through evolutionary conserved vertebrate gene analysis. Genetics in Medicine 10.1016/j.gim.2021.12.014. (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 (2022) Participant experiences of genome sequencing for rare diseases in the 100,000 Genomes Project: a mixed methods study. European Journal of Human Genetics 10.1038/s41431-022-01065-2. Green open access
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R

Rahman, Shamima; Baumgartner, Matthias; Morava, Eva; Patterson, Marc; Peters, Verena; Zschocke, Johannes; (2022) Quo vadis now: Beyond genomics to an era of personalised medicine. Journal of Inherited Metabolic Disease , 45 (2) pp. 129-131. 10.1002/jimd.12487.

S

Schreglmann, Sebastian R; Burke, Derek; Batla, Amit; Kresojevic, Nikola; Wood, Nicholas; Heales, Simon; Bhatia, Kailash P; (2022) Cerebellar and Midbrain Lysosomal Enzyme Deficiency in Isolated Dystonia. Movement Disorders , Article e28937. 10.1002/mds.28937. (In press).

Sethi, Siddharth; Zhang, David; Guelfi, Sebastian; Chen, Zhongbo; Garcia-Ruiz, Sonia; Olagbaju, Emmanuel O; Ryten, Mina; ... Botia, Juan A; + view all (2022) Leveraging omic features with F3UTER enables identification of unannotated 3'UTRs for synaptic genes. Nature Communications , 13 , Article 2270. 10.1038/s41467-022-30017-z. Green open access
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Shariq, OA; Lines, KE; English, KA; Jafar-Mohammadi, B; Prentice, P; Casey, R; Challis, BG; ... Thakker, RV; + view all (2022) Multiple endocrine neoplasia type 1 in children and adolescents: Clinical features and treatment outcomes. Surgery , 171 (1) pp. 77-87. 10.1016/j.surg.2021.04.041.

T

Teare, H; Argente, J; Dattani, M; Leger, J; Maghnie, M; Sherlock, M; Ali, GC; ... Marjanovic, S; + view all (2022) Challenges and improvement needs in the care of patients with central diabetes insipidus. Orphanet journal of rare diseases , 17 (1) , Article 58. 10.1186/s13023-022-02191-2. Green open access
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V

Vindrola-Padros, Cecilia; Ledger, Jean; Hill, Melissa; Tomini, Sonila; Spencer, Jonathan; Fulop, Naomi J; (2022) The Special Measures for Quality and Challenged Provider Regimes in the English NHS: A Rapid Evaluation of a National Improvement Initiative for Failing Healthcare Organisations. International Journal of Health Policy and Management 10.34172/ijhpm.2022.6619. (In press). Green open access
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Y

Yeo, M; Rehsi, P; Dorman, M; Grunewald, S; Baruteau, J; Chakrapani, A; Footitt, E; ... McSweeney, M; + view all (2022) Direct replacement of oral sodium benzoate with glycerol phenylbutyrate in children with urea cycle disorders. JIMD Reports , 63 (2) pp. 137-145. 10.1002/jmd2.12274. Green open access
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Z

Zago, E; Dal Molin, A; Dimitri, GM; Xumerle, L; Pirazzini, C; Bacalini, MG; Maturo, MG; ... Williams, D; + view all (2022) Early downregulation of hsa-miR-144-3p in serum from drug-naïve Parkinson’s disease patients. Scientific Reports , 12 , Article 1330. 10.1038/s41598-022-05227-6. Green open access
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This list was generated on Mon May 16 01:56:31 2022 BST.