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Number of items: 159.

A

Abdel-Khalik, J; Hearn, T; Dickson, AL; Crick, PJ; Yutuc, E; Austin-Muttit, K; Bigger, BW; ... Wang, Y; + view all (2020) Bile Acid Biosynthesis in Smith-Lemli-Opitz Syndrome Bypassing Cholesterol: Potential Importance of Pathway Intermediates. The Journal of Steroid Biochemistry and Molecular Biology , Article 105794. 10.1016/j.jsbmb.2020.105794. (In press). Green open access
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Ades, AE; Soriano-Arandes, A; Alarcon, A; Bonfante, F; Thorne, C; Peckham, CS; Giaquinto, C; (2020) Vertical transmission of Zika virus and its outcomes: a Bayesian synthesis of prospective studies. The Lancet Infectious Diseases 10.1016/S1473-3099(20)30432-1. (In press). Green open access
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Ades, AE; Thorne, C; Soriano-Arandes, A; Peckham, CS; Brown, DW; Lang, D; Morris, JG; ... Giaquinto, C; + view all (2020) Researching Zika in pregnancy: lessons for global preparedness. The Lancet Infectious Diseases , 20 (4) E61-E68. 10.1016/S1473-3099(20)30021-9. Green open access
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Aguti, S; Bolduc, V; Ala, P; Turmaine, M; Bönnemann, CG; Muntoni, F; Zhou, H; (2020) Exon-Skipping Oligonucleotides Restore Functional Collagen VI by Correcting a Common COL6A1 Mutation in Ullrich CMD. Molecular Therapy - Nucleic Acids , 21 pp. 205-216. 10.1016/j.omtn.2020.05.029. Green open access
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Alatzoglou, KS; Gregory, LC; Dattani, M; (2020) Development of the Pituitary Gland. Comprehensive Physiology , 10 (2) pp. 389-413. 10.1002/cphy.c150043. Green open access
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Altmann, A; Cash, DM; Bocchetta, M; Heller, C; Reynolds, R; Moore, K; Convery, RS; ... Rohrer, JD; + view all (2020) Analysis of brain atrophy and local gene expression in genetic frontotemporal dementia. Brain Communications 10.1093/braincomms/fcaa122. (In press). Green open access
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Andina, D; Belloni-Fortina, A; Bodemer, C; Bonifazi, E; Chiriac, A; Colmenero, I; Diociaiuti, A; ... ESPD Group for the Skin Manifestations of COVID-19, ; + view all (2020) Skin manifestations of COVID-19 in children: Part 1. Clinical and Experimental Dermatology 10.1111/ced.14481. (In press).

Andina, D; Belloni-Fortina, A; Bodemer, C; Bonifazi, E; Chiriac, A; Colmenero, I; Diociaiuti, A; ... ESPD Group for the Skin Manifestations of COVID-19, ; + view all (2020) Skin manifestations of COVID‐19 in children: Part 2. Clinical and Experimental Dermatology 10.1111/ced.14482. (In press).

Andina, D; Belloni-Fortina, A; Bodemer, C; Bonifazi, E; Chiriac, A; Colmenero, I; Diociaiuti, A; ... ESPD Group for the Skin Manifestations of COVID-19, ; + view all (2020) Skin manifestations of COVID‐19 in children: Part 3. Clinical and Experimental Dermatology 10.1111/ced.14483. (In press).

Angelova, PR; Choil, ML; Berezhnov, A; Horrocks, MH; Hughes, CD; De, S; Rodrigues, M; ... Gandhi, S; + view all (2020) Alpha synuclein aggregation drives ferroptosis: an interplay of iron, calcium and lipid peroxidation. Cell Death & Differentiation , 27 pp. 2781-2796. 10.1038/s41418-020-0542-z. Green open access
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B

Baruteau, J; Gurung, S; Perocheau, D; Counsell, J; (2020) Gene therapy for inherited metabolic diseases. Journal of Mother and Child , 24 (2) 10.34763/jmotherandchild.20202402si.2004.000009. Green open access
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Belsten, J; Werring, DJ; Jones, H; Heales, S; Pope, S; (2020) Cerebrospinal fluid folate, ascorbate, and tetrahydrobiopterin deficiency in superficial siderosis: A new potential mechanism of neurological dysfunction? Journal of the Neurological Sciences , 414 , Article 116856. 10.1016/j.jns.2020.116856.

Bilip, M; Shah, S; Mathiyalakan, M; Tagalakis, A; Hart, SL; Maeshima, R; Eaton, S; ... Stoker, AW; + view all (2020) Liposomal delivery of hydrophobic RAMBAs provides good bioavailability and significant enhancement of retinoic acid signalling in neuroblastoma tumour cells. Journal of Drug Targeting 10.1080/1061186X.2019.1710157. (In press). Green open access
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Bindoff, LA; Brown, DA; Gorman, GS; Karaa, A; Keshavan, N; Lamperti, C; Mancuso, M; ... De Vries, MC; + view all (2020) Comment on "A severe linezolid‐induced rhabdomyolysis and lactic acidosis in Leigh syndrome". Journal of Inherited Metabolic Disease 10.1002/jimd.12329. (In press).

Boyd, AC; Guo, S; Huang, L; Kerem, B; Oren, YS; Walker, AJ; Hart, SL; (2020) New approaches to genetic therapies for cystic fibrosis. Journal of Cystic Fibrosis 10.1016/j.jcf.2019.12.012. (In press). Green open access
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Bryant, D; Seda, M; Peskett, E; Maurer, C; Pomeranz, G; Ghosh, M; Hawkins, TA; ... Stanier, P; + view all (2020) Diverse species-specific phenotypic consequences of loss of function sorting nexin 14 mutations. Scientific Reports , 10 (1) , Article 13763. 10.1038/s41598-020-70797-2. Green open access
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Buonocore, F; Achermann, JC; (2020) Primary adrenal insufficiency: New genetic causes and their long-term consequences. [Review]. Clinical Endocrinology , 92 (1) pp. 11-20. 10.1111/cen.14109. Green open access
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Buonocore, F; McGlacken-Byrne, SM; Del Valle, I; Achermann, JC; (2020) Current Insights Into Adrenal Insufficiency in the Newborn and Young Infant. Frontiers in Pediatrics , 8 , Article 619041. 10.3389/fped.2020.619041. Green open access
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Burke, D; Heales, S; (2020) Differential activity of glucocerebrosidase in neurons and astrocytes; implications for evaluating tissue homogenates derived from Parkinson's disease brains. [Letter]. Journal of the Neurological Sciences , 418 , Article 117097. 10.1016/j.jns.2020.117097.

Butz, ES; Chandrachud, U; Mole, SE; Cotman, SL; (2020) Moving towards a new era of genomics in the neuronal ceroid lipofuscinoses. Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease , 1866 (9) , Article 165571. 10.1016/j.bbadis.2019.165571. Green open access
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C

COVID-19 Genomics UK (COG-UK), ; (2020) An integrated national scale SARS-CoV-2 genomic surveillance network. The Lancet Microbe , 1 (3) e99-e100. 10.1016/S2666-5247(20)30054-9. Green open access
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Captur, G; Heywood, WE; Coats, C; Rosmini, S; Patel, V; Lopes, LR; Collis, R; ... Mills, K; + view all (2020) Identification of a Multiplex Biomarker Panel for Hypertrophic Cardiomyopathy using Quantitative Proteomics and Machine Learning. Molecular & Cellular Proteomics , 19 (1) pp. 114-127. 10.1074/mcp.RA119.001586. Green open access
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Cave, A; Plumptre, I; Mellerio, JE; Martinez, AE; Kinsler, VA; (2020) The adverse effect profile of acitretin in a pediatric dermatology population-Longitudinal cohort study and recommendations for monitoring. Journal of the American Academy of Dermatology 10.1016/j.jaad.2020.03.082. (In press). Green open access
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Cerbone, M; Güemes, M; Wade, A; Improda, N; Dattani, M; (2020) Endocrine morbidity in midline brain defects: Differences between septo-optic dysplasia and related disorders. EClinicalMedicine 10.1016/j.eclinm.2019.11.017. (In press). Green open access
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Chen, Z; Maroofian, R; Başak, AN; Shingavi, L; Karakaya, M; Efthymiou, S; Gustavsson, EK; ... Sarraf, P; + view all (2020) Novel variants broaden the phenotypic spectrum of PLEKHG5-associated neuropathies. European Journal of Neurology 10.1111/ene.14649. (In press).

Chen, Z; Ryten, M; Houlden, H; (2020) Reply to: No evidence supports genetic heterogeneity of neuronal intranuclear inclusion disease. Annals of Clinical and Translational Neurology 10.1002/acn3.51222. (In press). Green open access
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Chen, Z; Yan Yau, W; Jaunmuktane, Z; Tucci, A; Sivakumar, P; Gagliano Taliun, SA; Turner, C; ... Houlden, H; + view all (2020) Neuronal intranuclear inclusion disease is genetically heterogeneous. Annals of Clinical and Translational Neurology 10.1002/acn3.51151. (In press). Green open access
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Clarke, M; Mackay, A; Ismer, B; Pickles, JC; Tatevossian, RG; Newman, S; Bale, TA; ... Jones, C; + view all (2020) Infant high grade gliomas comprise multiple subgroups characterized by novel targetable gene fusions and favorable outcomes. Cancer Discovery 10.1158/2159-8290.CD-19-1030. (In press). Green open access
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Clayton, PT; (2020) Is susceptibility to severe COVID-19 disease an inborn error of metabolism? [Letter]. Journal of Inherited Metabolic Disease , 43 (5) pp. 906-907. 10.1002/jimd.12280. Green open access
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Cooper, JD; Mole, SE; (2020) Future perspectives: What lies ahead for Neuronal Ceroid Lipofuscinosis research? Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease 10.1016/j.bbadis.2020.165681. (In press). Green open access
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Costa, B; Manzoni, C; Bernal-Quiros, M; Kia, D; Aguilar, M; Alvarez, I; Alvarez, V; ... Hardy, J; + view all (2020) C9orf72, age at onset, and ancestry help discriminate behavioral from language variants in FTLD cohorts. Neurology , 95 (24) e3288-e3302. 10.1212/WNL.0000000000010914. Green open access
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Cottrell, E; Cabrera, CP; Ishida, M; Chatterjee, S; Greening, J; Wright, N; Bossowski, A; ... Storr, HL; + view all (2020) Rare CNVs provide novel insights into the molecular basis of GH and IGF-1 insensitivity. European Journal of Endocrinology , 183 (6) pp. 581-595. 10.1530/EJE-20-0474. Green open access
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Coughlin, CR; Tseng, LA; Abdenur, JE; Ashmore, C; Boemer, F; Bok, LA; Boyer, M; ... van Karnebeek, CDM; + view all (2020) Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency. Journal of Inherited Metabolic Disease 10.1002/jimd.12332. (In press).

Cuomo, ASE; Seaton, DD; McCarthy, DJ; Martinez, I; Bonder, MJ; Garcia-Bernardo, J; Amatya, S; ... Stegle, O; + view all (2020) Single-cell RNA-sequencing of differentiating iPS cells reveals dynamic genetic effects on gene expression. Nature Communications , 11 (1) p. 810. 10.1038/s41467-020-14457-z. Green open access
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D

De Vries, MC; Brown, DA; Allen, ME; Bindoff, L; Gorman, GS; Karaa, A; Keshavan, N; ... Mancuso, M; + view all (2020) Safety of drug use in patients with a primary mitochondrial disease: An international Delphi-based consensus. Journal of Inherited Metabolic Disease 10.1002/jimd.12196. (In press). Green open access
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Dewan, R; Chia, R; Ding, J; Hickman, RA; Stein, TD; Abramzon, Y; Ahmed, S; ... Traynor, BJ; + view all (2020) Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis. Neuron 10.1016/j.neuron.2020.11.005. (In press).

Doreste, B; Torelli, S; Morgan, J; (2020) Irradiation dependent inflammatory response may enhance satellite cell engraftment. Scientific Reports , 10 , Article 11119. 10.1038/s41598-020-68098-9. Green open access
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Doykov, I; Hällqvist, J; Gilmour, KC; Grandjean, L; Mills, K; Heywood, WE; (2020) 'The long tail of Covid-19' - The detection of a prolonged inflammatory response after a SARS-CoV-2 infection in asymptomatic and mildly affected patients [version 1; peer review: awaiting peer review]. F1000Research , 9 , Article 1349. 10.12688/f1000research.27287.1. Green open access
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F

Fassad, MR; Shoman, WI; Morsy, H; Patel, MP; Radwan, N; Jenkins, L; Cullup, T; ... Fasseeh, N; + view all (2020) Clinical and genetic spectrum in 33 Egyptian families with suspected primary ciliary dyskinesia. Clinical Genetics , 97 (3) pp. 509-515. 10.1111/cge.13661. Green open access
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Ferreira, CR; Rahman, S; Keller, M; Zschocke, J; ICIMD advisory group, ; (2020) An International Classification of Inherited Metabolic Disorders (ICIMD). Journal of Inherited Metabolic Disease 10.1002/jimd.12348. (In press).

Freeman, TM; Wang, D; Harris, J; Ambrose, JC; Arumugam, P; Baple, EL; Bleda, M; ... Zarowiecki, M; + view all (2020) Genomic loci susceptible to systematic sequencing bias in clinical whole genomes. Genome Research , 30 (3) pp. 415-426. 10.1101/gr.255349.119. Green open access
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Freke, Grace Mercedes; (2020) Probing the Role(s) of Bbs1 with CRISPR/Cas9 Gene Editing. Doctoral thesis (Ph.D), UCL (University College London). Green open access
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G

Galazzi, E; Improda, N; Cerbone, M; Soranna, D; Moro, M; Fatti, LM; Zambon, A; ... Persani, L; + view all (2020) Clinical benefits of sex steroids given as a priming prior to GH provocative test or as a growth promoting therapy in peripubertal growth delays: results of a retrospective study among ENDO-ERN centers. Clinical Endocrinology 10.1111/cen.14337. (In press). Green open access
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Gao, E; Cheema, H; Waheed, N; Mushtaq, I; Erden, N; Nelson-Williams, C; Jain, D; ... Vilarinho, S; + view all (2020) OSTα deficiency: A disorder with cholestasis, liver fibrosis and congenital diarrhea. Hepatology , 71 (5) pp. 1879-1882. 10.1002/hep.31087.

Gao, Y; Wang, T; Yu, X; International FTD-Genomics Consortium (IFGC), ; Zhao, H; Zeng, P; (2020) Mendelian randomization implies no direct causal association between leukocyte telomere length and amyotrophic lateral sclerosis. Scientific Reports , 10 , Article 12184. 10.1038/s41598-020-68848-9. Green open access
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Gardner, LE; Horton, KL; Shoemark, A; Lucas, JS; Nielsen, KG; Kobbernagel, H; Rubbo, B; ... Hogg, C; + view all (2020) Proceedings of the 4th BEAT-PCD Conference and 5th PCD Training School. In: BMC Proceedings. Springer Nature: Poznań, Poland. Green open access
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Ghosh, R; Wood-Kaczmar, A; Dobson, L; Smith, EJ; Sirinathsinghji, EC; Kriston-Vizi, J; Hargreaves, IP; ... Tabrizi, SJ; + view all (2020) Expression of mutant exon 1 huntingtin fragments in human neural stem cells and neurons causes inclusion formation and mitochondrial dysfunction. FASEB Journal 10.1096/fj.201902277RR. Green open access
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Giri, D; Bockenhauer, D; Deshpande, C; Achermann, JC; Taylor, NF; Rumsby, G; Morgan, H; ... Ajzensztejn, M; + view all (2020) Co-Existence of Congenital Adrenal Hyperplasia and Bartter Syndrome due to Maternal Uniparental Isodisomy of HSD3B2 and CLCNKB Mutations. Hormone Research in Paediatrics 10.1159/000507577. (In press). Green open access
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Goldstein, A; Rahman, S; (2020) Seeking impact: global perspectives on outcome measure selection for translational and clinical research for primary mitochondrial disorders. Journal of Inherited Metabolic Disease 10.1002/jimd.12320. (In press). Green open access
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Grabovska, Y; Mackay, A; O'Hare, P; Crosier, S; Finetti, M; Schwalbe, EC; Pickles, JC; ... Williamson, D; + view all (2020) Pediatric pan-central nervous system tumor analysis of immune-cell infiltration identifies correlates of antitumor immunity. Nature Communications , 11 , Article 4324. 10.1038/s41467-020-18070-y. Green open access
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Gregory, LC; Dattani, MT; (2020) The Molecular Basis of Congenital Hypopituitarism and Related Disorders. Journal of Clinical Endocrinology & Metabolism , 105 (6) e2103-e2120. 10.1210/clinem/dgz184. Green open access
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Guelfi, S; D'Sa, K; Botía, JA; Vandrovcova, J; Reynolds, RH; Zhang, D; Trabzuni, D; ... Ryten, M; + view all (2020) Regulatory sites for splicing in human basal ganglia are enriched for disease-relevant information. Nature Communications , 11 , Article 1041. 10.1038/s41467-020-14483-x. Green open access
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Guemes, M; Rahman, SA; Kapoor, RR; Flanagan, S; Houghton, JAL; Misra, S; Oliver, N; ... Shah, P; + view all (2020) Hyperinsulinemic hypoglycemia in children and adolescents: Recent advances in understanding of pathophysiology and management. Reviews in Endocrine and Metabolic Disorders 10.1007/s11154-020-09548-7. Green open access
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H

Hammond, J; Klapwijk, JE; Hill, M; Lou, S; Ormond, KE; Diderich, KEM; Riedijk, S; (2020) Parental experiences of uncertainty following an abnormal fetal anomaly scan: Insights using Han’s taxonomy of uncertainty. Journal of Genetic Counseling 10.1002/jgc4.1311. (In press). Green open access
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Harding, E; Hammond, J; Chitty, LS; Hill, M; Lewis, C; (2020) Couples experiences of receiving uncertain results following prenatal microarray or exome sequencing; a mixed‐methods systematic review. Prenatal Diagnosis 10.1002/pd.5729. (In press).

Heaton, RA; Heales, S; Rahman, K; Sexton, DW; Hargreaves, I; (2020) The Effect of Cellular Coenzyme Q(10) Deficiency on Lysosomal Acidification. Journal Of Clinical Medicine , 9 (6) , Article 1923. 10.3390/jcm9061923. Green open access
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Hietamäki, J; Gregory, LC; Ayoub, S; Iivonen, A-P; Vaaralahti, K; Liu, X; Brandstack, N; ... Raivio, T; + view all (2020) Loss-of-function variants in TBC1D32 underlie syndromic hypopituitarism. The Journal of Clinical Endocrinology & Metabolism 10.1210/clinem/dgaa078. (In press). Green open access
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Hikmat, O; Naess, K; Engvall, M; Klingenberg, C; Rasmussen, M; Tallaksen, CME; Brodtkorb, E; ... Bindoff, LA; + view all (2020) Simplifying the clinical classification of polymerase gamma (POLG) disease based on age of onset; studies using a cohort of 155 cases. Journal of Inherited Metabolic Disease 10.1002/jimd.12211. Green open access
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Hikmat, O; Naess, K; Engvall, M; Klingenberg, C; Rasmussen, M; Tallaksen, CME; Samsonsen, C; ... Bindoff, LA; + view all (2020) The impact of gender, puberty, and pregnancy in patients with POLG disease. Annals of Clinical and Translational Neurology 10.1002/acn3.51199. (In press). Green open access
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Hill, M; Hammond, J; Lewis, C; Mellis, R; Clement, E; Chitty, LS; (2020) Delivering genome sequencing for rapid genetic diagnosis in critically ill children: parent and professional views, experiences and challenges. European Journal of Human Genetics 10.1038/s41431-020-0667-z. (In press). Green open access
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I

Irving, E; Tagalakis, AD; Maeshima, R; Hart, SL; Eaton, S; Lehtonen, A; Stoker, AW; (2020) The liposomal delivery of hydrophobic oxidovanadium complexes imparts highly effective cytotoxicity and differentiating capacity in neuroblastoma tumour cells. Scientific Reports , 10 (1) , Article 16660. 10.1038/s41598-020-73539-6. Green open access
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J

Juban, G; Sakakini, N; Chagraoui, H; Cruz Hernandez, D; Cheng, Q; Soady, K; Stoilova, B; ... Vyas, P; + view all (2020) Oncogenic Gata1 Causes Stage-Specific Megakaryocyte Differentiation Delay. Haematologica 10.3324/haematol.2019.244541. (In press). Green open access
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K

Kallali, W; Gray, E; Mehdi, MZ; Lindsay, RS; Metherell, LA; Buonocore, F; Suntharalingham, JP; ... Donaldson, M; + view all (2020) Long-term outcome of partial P450 side-chain cleavage enzyme deficiency in three brothers: the importance of early diagnosis. European Journal of Endocrinology 10.1530/EJE-19-0696. (In press). Green open access
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Karda, R; Rahim, AA; Wong, AMS; Suff, N; Diaz, JA; Perocheau, DP; Tijani, M; ... Waddington, SN; + view all (2020) Generation of light-producing somatic-transgenic mice using adeno-associated virus vectors. Scientific Reports , 10 (1) , Article 2121. 10.1038/s41598-020-59075-3. Green open access
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Keller, N; Mendoza-Ferreira, N; Maroofian, R; Chelban, V; Khalil, Y; Mills, PB; Boostani, R; ... Karakaya, M; + view all (2020) Hereditary polyneuropathy with optic atrophy due to PDXK variant leading to impaired Vitamin B6 metabolism. Neuromuscular Disorders 10.1016/j.nmd.2020.04.004. (In press).

Keshavan, N; Abdenur, J; Anderson, G; Assouline, Z; Barcia, G; Bouhikbar, L; Chakrapani, A; ... Rahman, S; + view all (2020) The natural history of infantile mitochondrial DNA depletion syndrome due to RRM2B deficiency. Genetics in Medicine , 22 pp. 199-209. 10.1038/s41436-019-0613-z. Green open access
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Kim, A; Grover, A; Hammon, K; de Hart, G; Slasor, P; Cherukuri, A; Ajayi, T; ... Henshaw, JW; + view all (2020) Clinical pharmacokinetics and pharmacodynamics of cerliponase alfa, enzyme replacement therapy for CLN2 disease by intracerebroventricular administration. Clinical and Translational Science 10.1111/cts.12925. (In press). Green open access
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Kinsler, V; Boccara, O; Fraitag, S; Torrelo, A; Vabres, P; Diociauti, A; (2020) Mosaic abnormalities of the skin – review and guidelines from the European Reference Network for rare skin diseases (ERN-Skin). British Journal of Dermatology , 182 (3) pp. 552-563. 10.1111/bjd.17924. Green open access
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Kleine Holthaus, S-M; Aristorena, M; Maswood, R; Semenyuk, O; Hoke, J; Hare, A; Smith, AJ; ... Ali, RR; + view all (2020) Gene Therapy Targeting the Inner Retina Rescues the Retinal Phenotype in a Mouse Model of CLN3 Batten Disease. Human Gene Therapy , 31 (13-14) pp. 709-718. 10.1089/hum.2020.038.

Kline, RA; Wishart, TM; Mills, K; Heywood, WE; (2020) Applying modern Omic technologies to the Neuronal Ceroid Lipofuscinoses. Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease , 1866 (9) , Article 165498. 10.1016/j.bbadis.2019.06.012. Green open access
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Kostopoulou, E; Dastamani, A; Güemes, M; Clement, E; Caiulo, S; Shanmugananda, P; Dattani, M; ... Shah, P; + view all (2020) Syndromic Forms of Hyperinsulinaemic Hypoglycaemia A 15-year follow-up Study. Clinical Endocrinology 10.1111/cen.14393. (In press).

Krywawych, S; Cleary, M; McSweeney, M; Heales, S; (2020) Earwax: A potentially useful medium to identify inborn errors of metabolism? JIMD Reports , 52 (1) pp. 72-78. 10.1002/jmd2.12102. Green open access
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L

Lamback, EB; Chiarini, S; Roposch, A; Dattani, MT; (2020) Congenital growth hormone deficiency associated with hip dysplasia and Legg-Calve-Perthes disease. Clinical Endocrinology 10.1111/cen.14365. (In press).

Lassalle, F; Beale, MA; Bharucha, T; Williams, CA; Williams, RJ; Cudini, J; Goldstein, R; ... Breuer, J; + view all (2020) Whole genome sequencing of Herpes Simplex Virus 1 directly from human cerebrospinal fluid reveals selective constraints in neurotropic viruses. Virus Evolution , 6 (1) , Article veaa012. 10.1093/ve/veaa012. Green open access
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Lee, MY; Wang, H-Z; White, TW; Brooks, T; Pittman, A; Halai, H; Petrova, A; ... Di, W-L; + view all (2020) Allele-Specific Small Interfering RNA Corrects Aberrant Cellular Phenotype in Keratitis-Ichthyosis-Deafness Syndrome Keratinocytes. Journal of Investigative Dermatology , 140 (5) 1035-1044.e7. 10.1016/j.jid.2019.09.022. Green open access
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Legendre, M; Zaragosi, L-E; Mitchison, HM; (2020) Motile cilia and airway disease. Seminars in Cell & Developmental Biology 10.1016/j.semcdb.2020.11.007. (In press).

Leung, K-Y; De Castro, SCP; Santos, C; Savery, D; Prunty, H; Gold-Diaz, D; Bennett, S; ... Greene, NDE; + view all (2020) Regulation of glycine metabolism by the glycine cleavage system and conjugation pathway in mouse models of Non-Ketotic Hyperglycinemia. Journal of Inherited Metabolic Disease , 43 (6) pp. 1186-1198. 10.1002/jimd.12295. Green open access
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Lewis, C; Hammond, J; Hill, M; Searle, B; Hunter, A; Patch, C; Chitty, LS; (2020) Young people's understanding, attitudes and involvement in decision-making about genome sequencing for rare diseases: A qualitative study with participants in the UK 100,000 genomes project. European Journal of Medical Genetics , Article 104043. 10.1016/j.ejmg.2020.104043. (In press).

Lewis, C; Sanderson, S; Hill, M; Patch, C; Searle, B; Hunter, A; Chitty, LS; (2020) Parents' motivations, concerns and understanding of genome sequencing: a qualitative interview study. European Journal of Human Genetics 10.1038/s41431-020-0575-2. Green open access
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Lewis, C; Sanderson, SC; Hammond, J; Hill, M; Searle, B; Hunter, A; Patch, C; (2020) Development and mixed-methods evaluation of an online animation for young people about genome sequencing. European Journal of Human Genetics 10.1038/s41431-019-0564-5. (In press). Green open access
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Liu, JYW; Dzurova, N; Al-Kaaby, B; Mills, K; Sisodiya, SM; Thom, M; (2020) Granule Cell Dispersion in Human Temporal Lobe Epilepsy: Proteomics Investigation of Neurodevelopmental Migratory Pathways. Frontiers in Cellular Neuroscience , 14 , Article 53. 10.3389/fncel.2020.00053. Green open access
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Liu, W; Kleine-Holthaus, S-M; Herranz-Martin, S; Aristorena, M; Mole, SE; Smith, AJ; Ali, RR; (2020) Experimental gene therapies for the NCLs. Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease , Article 165772. 10.1016/j.bbadis.2020.165772. (In press). Green open access
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Lokulo-Sodipe, O; Ballard, L; Child, J; Inskip, HM; Byrne, CD; Ishida, M; Moore, GE; ... Temple, IK; + view all (2020) Phenotype of genetically confirmed Silver-Russell syndrome beyond childhood. Journal of Medical Genetics 10.1136/jmedgenet-2019-106561. (In press). Green open access
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Lorvellec, M; Pellegata, AF; Maestri, A; Turchetta, C; Alvarez Mediavilla, E; Shibuya, S; Jones, B; ... Gissen, P; + view all (2020) An In Vitro Whole-Organ Liver Engineering for Testing of Genetic Therapies. iScience , 23 (12) , Article 101808. 10.1016/j.isci.2020.101808. Green open access
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This list was generated on Mon Apr 12 02:20:57 2021 BST.