UCL Discovery
UCL home » Library Services » Electronic resources » UCL Discovery

Browse by UCL Departments and Centres

Up a level
Export as [feed] Atom [feed] RSS 1.0 [feed] RSS 2.0
Group by: Author | Type
Jump to: A | B | C | D | E | F | G | H | I | J | K | L | M | O | P | R | S | T | V | W | Y
Number of items: 155.

A

Abarrategi, A; Foster, K; Hamilton, A; Mian, SA; Passaro, D; Gribben, J; Mufti, G; (2017) Versatile humanized niche model enables study of normal and malignant human hematopoiesis. Journal of Clinical Investigation , 127 (2) pp. 543-548. 10.1172/JCI89364. Green open access
file

Achermann, JC; Schwabe, J; Fairall, L; Chatterjee, K; (2017) Genetic disorders of nuclear receptors. Journal of Clinical Investigation , 127 (4) pp. 1181-1192. 10.1172/JCI88892. Green open access
file

Al Shahrani, M; Heales, S; Hargreaves, I; Orford, M; (2017) Oxidative Stress: Mechanistic Insights into Inherited Mitochondrial Disorders and Parkinson's Disease. Journal Of Clinical Medicine , 6 (11) , Article 100. 10.3390/jcm6110100. Green open access
file

Al-Olabi, L; Polubothu, S; Dowsett, K; Andrews, KA; Stadnik, P; Joseph, AP; Knox, R; ... Kinsler, VA; + view all (2017) C2.2 Postzygotic activating variants in mapk pathway genes cause intracranial and extracranial vascular malformations that respond to targeted inhibition. Presented at: Great Ormond Street Hospital Conference, London, UK. Green open access
file

Alvizi, L; Ke, X; Brito, LA; Seselgyte, R; Moore, GE; Stanier, P; Passos-Bueno, MR; (2017) Differential methylation is associated with non-syndromic cleft lip and palate and contributes to penetrance effects. Scientific Reports , 7 , Article 244. 10.1038/s41598-017-02721-0. Green open access
file

Antony, D; Nampoory, N; Bacchelli, C; Melhem, M; Wu, K; James, CT; Beales, PL; ... Alsmadi, O; + view all (2017) Exome sequencing for the differential diagnosis of ciliary chondrodysplasias: Example of a WDR35 mutation case and review of the literature. [Review]. European Journal of Medical Genetics , 60 (12) pp. 658-666. 10.1016/j.ejmg.2017.08.019. Green open access
file

Arber, C; Angelova, PR; Wiethoff, S; Tsuchiya, Y; Mazzacuva, F; Preza, E; Bhatia, KP; ... Wray, S; + view all (2017) iPSC-derived neuronal models of PANK2-associated neurodegeneration reveal mitochondrial dysfunction contributing to early disease. PLoS One , 12 (9) , Article e0184104. 10.1371/journal.pone.0184104. Green open access
file

Arno, G; Carss, KJ; Hull, S; Zihni, C; Robson, AG; Fiorentino, A; Hardcastle, AJ; ... Yu, P; + view all (2017) Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration. The American Journal of Human Genetics , 100 (2) pp. 334-342. 10.1016/j.ajhg.2016.12.014. Green open access
file

B

Bacchelli, C; Moretti, FA; Carmo, M; Adams, S; Stanescu, HC; Pearce, K; Madkaikar, M; ... Gaspar, HB; + view all (2017) Mutations in linker for activation of T cells (LAT) lead to a novel form of severe combined immunodeficiency. Journal of Allergy and Clinical Immunology , 139 (2) pp. 634-642. 10.1016/j.jaci.2016.05.036. Green open access
file

Bamber, Andrew Richard; (2017) A proteomic approach to determining cause of death in sudden unexpected death in infancy (SUDI). Doctoral thesis (M.D(Res)), UCL (University College London). Green open access
file

Baranski Lamback, E; Morandi, G; Rapti, E; Christov, G; Brogan, PA; Hindmarsh, P; (2017) Addison's disease presenting with perimyocarditis. Journal of Pediatric Endocrinology and Metabolism , 31 (1) pp. 101-105. 10.1515/jpem-2017-0278. Green open access
file

Baruteau, J; Jameson, E; Morris, AA; Chakrapani, A; Santra, S; Vijay, S; Kocadag, H; ... Davison, JE; + view all (2017) Expanding the phenotype in argininosuccinic aciduria: need for new therapies. Journal of Inherited Metabolic Disease , 40 (3) pp. 357-368. 10.1007/s10545-017-0022-x. Green open access
file

Baruteau, J; Waddington, SN; Alexander, IE; Gissen, P; (2017) Delivering efficient liver-directed AAV-mediated gene therapy. Gene Therapy , 24 (5) pp. 263-264. 10.1038/gt.2016.90. Green open access
file

Baruteau, J; Waddington, SN; Alexander, IE; Gissen, P; (2017) Gene therapy for monogenic liver diseases: clinical successes, current challenges and future prospects. Journal of Inherited Metabolic Disease , 40 (4) pp. 497-517. 10.1007/s10545-017-0053-3. Green open access
file

Baruteau, JC; (2017) A gene therapy approach for Argininosuccinic aciduria. Doctoral thesis , UCL (University College London). Green open access
file

Batllori, M; Molero-Luis, M; Ormazabal, A; Casado, M; Sierra, C; Garcia-Cazorla, A; Kurian, M; ... Artuch, R; + view all (2017) Analysis of human cerebrospinal fluid monoamines and their cofactors by HPLC. Nature Protocols , 12 (11) pp. 2359-2375. 10.1038/nprot.2017.103. Green open access
file

Baud, A; Wessely, F; Mazzacuva, F; McCormick, J; Camuzeaux, S; Heywood, WE; Little, D; ... Mills, K; + view all (2017) Multiplex High-Throughput Targeted Proteomic Assay To Identify Induced Pluripotent Stem Cells. Analytical Chemistry , 89 (4) pp. 2440-2448. 10.1021/acs.analchem.6b04368. Green open access
file

Beesley, C; Guerreiro, RJ; Bras, JT; Williams, RE; Taratuto, AL; Eltze, C; Mole, SE; (2017) CLN8 disease caused by large genomic deletions. Molecular Genetics & Genomic Medicine , 5 (1) pp. 85-91. 10.1002/mgg3.263. Green open access
file

Bernabò, P; Tebaldi, T; Groen, EJN; Lane, FM; Perenthaler, E; Mattedi, F; Newbery, HJ; ... Viero, G; + view all (2017) In Vivo Translatome Profiling in Spinal Muscular Atrophy Reveals a Role for SMN Protein in Ribosome Biology. Cell Reports , 21 (4) pp. 953-965. 10.1016/j.celrep.2017.10.010. Green open access
file

Blauwendraat, C; Faghri, F; Pihlstrom, L; Geiger, JT; Elbaz, A; Lesage, S; Corvol, J-C; ... Scholz, S; + view all (2017) NeuroChip, an updated version of the NeuroX genotyping platform to rapidly screen for variants associated with neurological diseases. Neurobiology of Aging , 57 247.e9-247.e13. 10.1016/j.neurobiolaging.2017.05.009. Green open access
file

Boldrin, L; Ross, JA; Whitmore, C; Doreste, B; Beaver, C; Eddaoudi, A; Pearce, DJ; (2017) The effect of calorie restriction on mouse skeletal muscle is sex, strain and time-dependent. Science Reports , 7 (1) , Article 5160. 10.1038/s41598-017-04896-y. Green open access
file

Botía, JA; Vandrovcova, J; Forabosco, P; Guelfi, S; D'Sa, K; United Kingdom Brain Expression Consortium, .; Hardy, J; ... Weale, ME; + view all (2017) An additional k-means clustering step improves the biological features of WGCNA gene co-expression networks. BMC Systems Biology , 11 , Article 47. 10.1186/s12918-017-0420-6. Green open access
file

Brown, JR; Roy, S; Tutill, H; Williams, R; Breuer, J; (2017) Super-infections and relapses occur in chronic norovirus infections. Journal of Clinical Virology , 96 pp. 44-48. 10.1016/j.jcv.2017.09.009. Green open access
file

Bryant, DT; Landles, C; Papadopoulou, AS; Benjamin, AC; Duckworth, JK; Rosahl, T; Benn, CL; (2017) Disruption to schizophrenia-associated gene Fez1 in the hippocampus of HDAC11 knockout mice. Scientific Reports , 7 (1) , Article 11900. 10.1038/s41598-017-11630-1. Green open access
file

Buonocore, F; Kühnen, P; Suntharalingham, JP; Del Valle, I; Digweed, M; Stachelscheid, H; Khajavi, N; ... Achermann, JC; + view all (2017) Somatic mutations and progressive monosomy modify SAMD9-related phenotypes in humans. Journal of Clinical Investigation , 127 (5) pp. 1700-1713. 10.1172/JCI91913. Green open access
filefile

Burke, Derek Gerard; (2017) Interplay between Glucocerebrosidase 1 and Glucocerebrosidase 2; potential implications for the pathogenesis of Gaucher and Parkinson's diseases. Doctoral thesis , UCL (University College London). Green open access
file

Busam, KJ; Shah, KN; Gerami, P; Sitzman, T; Jungbluth, AA; Kinsler, V; (2017) Reduced H3K27me3 Expression Is Common in Nodular Melanomas of Childhood Associated With Congenital Melanocytic Nevi But Not in Proliferative Nodules. The American Journal of Surgical Pathology , 41 (3) pp. 396-404. 10.1097/PAS.0000000000000769. Green open access
file

C

Carss, KJ; Arno, G; Erwood, M; Stephens, J; Sanchis-Juan, A; Hull, S; Megy, K; ... Raymond, FL; + view all (2017) Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease. American Journal of Human Genetics , 100 (1) pp. 75-90. 10.1016/j.ajhg.2016.12.003. Green open access
file

Casanova, MA; Monteagudo-Sánchez, A; Guerineau, LR; Court, F; Serrano, IG; Martorell, L; Zurriaga, CR; ... Hernando, JM; + view all (2017) Maternal mutations of FOXF1 cause Alveolar capillary dysplasia despite not being imprinted. Human Mutation , 38 (6) pp. 615-620. 10.1002/humu.23213. Green open access
file

Cerbone, M; Dattani, MT; (2017) Progression from isolated growth hormone deficiency to combined pituitary hormone deficiency. Growth Hormone and IGF Research , 37 pp. 19-25. 10.1016/j.ghir.2017.10.005. Green open access
file

Chelban, V; Patel, N; Vandrovcova, J; Zanetti, MN; Lynch, DS; Ryten, M; Botia, JA; ... Houlden, H; + view all (2017) Mutations in NKX6-2 Cause Progressive Spastic Ataxia and Hypomyelination. American Journal of Human Genetics , 100 (6) pp. 969-977. 10.1016/j.ajhg.2017.05.009. Green open access
file

Chow, J; Rahman, J; Achermann, JC; Dattani, MT; Rahman, S; (2017) Mitochondrial disease and endocrine dysfunction. Nature Reviews Endocrinology , 13 (2) pp. 92-104. 10.1038/nrendo.2016.151. Green open access
file

Christiansen, MT; Hullegie, SJ; Schutten, M; Einer-Jensen, K; Tutill, HJ; Breuer, J; Rijnders, BJA; (2017) Use of whole genome sequencing in the Dutch Acute HCV in HIV study: focus on transmitted antiviral resistance. Clinical Microbiology and Infection , 23 (2) 123.e1-123.e4. 10.1016/j.cmi.2016.09.018. Green open access
file

Clayton, PT; (2017) Inherited disorders of transition metal metabolism: an update. Journal of Inherited Metabolic Disease , 40 (4) pp. 519-529. 10.1007/s10545-017-0030-x. Green open access
file

D

Dattani, M; Hawton, K; Walton-Bethancourth, S; Rumsby, G; Raine, J; (2017) Growth Hormone With Aromatase Inhibitor May Improve Height in CYP11B1 Congenital Adrenal Hyperplasia. Pediatrics , 139 (2) , Article e20160730. 10.1542/peds.2016-0730. Green open access
filefile

Daudvohra, F; Fassad, MR; Dixon, M; Burgoyne, T; Rogers, AV; Loebinger, MR; Hogg, C; ... Shoemark, A; + view all (2017) Genetic and structural characterisation of outer dynein arm variants causing primary ciliary dyskinesia. In: (Proceedings) Winter Meeting of the British-Thoracic-Society. (pp. A44-A44). BMJ PUBLISHING GROUP Green open access
file

Davison, JE; Rahman, S; (2017) Recognition, investigation and management of mitochondrial disease. Archives of Disease in Childhood , 102 (11) pp. 1082-1090. 10.1136/archdischild-2016-311370. Green open access
file

De La Fuente Barrigon, C; Burke, D; Eaton, SJ; Heales, S; (2017) Inhibition of Neuronal Mitochondrial Complex I or Lysosomal Glucocerebrosidase is associated with Increased Dopamine and Serotonin Turnover. Neurochemistry International , 109 pp. 94-100. 10.1016/j.neuint.2017.02.013. Green open access
file

Del Valle, I; Buonocore, F; Duncan, AJ; Lin, L; Barenco, M; Parnaik, R; Shah, S; ... Achermann, JC; + view all (2017) A genomic atlas of human adrenal and gonad development [version 1; referees: awaiting peer review]. Wellcome Open Research , 2 , Article 25. 10.12688/wellcomeopenres.11253.1. Green open access
file

Delhove, JM; Buckley, SM; Perocheau, DP; Karda, R; Arbuthnot, P; Henderson, NC; Waddington, SN; (2017) Longitudinal in vivo bioimaging of hepatocyte transcription factor activity following cholestatic liver injury in mice. Scientific Reports , 7 , Article 41874. 10.1038/srep41874. Green open access
filefile

Desai, R; Frazier, AE; Durigon, R; Patel, H; Jones, AW; Rosa, ID; Lake, NJ; ... Spinazzola, A; + view all (2017) ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism. Brain , 140 (6) pp. 1595-1610. 10.1093/brain/awx094. Green open access
file

Di Tullio, A; Rouault-Pierre, K; Abarrategi, A; Mian, S; Grey, W; Gribben, J; Stewart, A; ... Bonnet, D; + view all (2017) The combination of CHK1 inhibitor with G-CSF overrides cytarabine resistance in human acute myeloid leukemia. Nature Communications , 8 , Article 1679. 10.1038/s41467-017-01834-4. Green open access
file

Dubruc, E; Nadaud, B; Ruchelli, E; Heissat, S; Baruteau, J; Broue, P; Debray, D; ... Collardeau-Frachon, S; + view all (2017) Relevance of C5b9 immunostaining in the diagnosis of neonatal hemochromatosis. Pediatric Research , 81 (5) pp. 712-721. 10.1038/pr.2017.8. Green open access
file

del Valle, I; Buonocore, F; Duncan, AJ; Lin, L; Barenco, M; Parnaik, R; Shah, S; ... Achermann, JC; + view all (2017) A genomic atlas of human adrenal and gonad development [version 2; referees: 4 approved]. Wellcome Open Research , 2 , Article 25. 10.12688/wellcomeopenres.11253.2. Green open access
file

E

Eastlake, K; Heywood, WE; Tracey-White, D; Aquino, E; Bliss, E; Vasta, GR; Mills, K; ... Limb, GA; + view all (2017) Comparison of proteomic profiles in the zebrafish retina during experimental degeneration and regeneration. Scientific Reports , 7 , Article 44601. 10.1038/srep44601. Green open access
filefile

Eichler, F; Duncan, C; Musolino, PL; Orchard, PJ; De Oliveira, S; Thrasher, AJ; Armant, M; ... Williams, DA; + view all (2017) Hematopoietic Stem-Cell Gene Therapy for Cerebral Adrenoleukodystrophy. The New England Journal of Medicine , 377 pp. 1630-1638. 10.1056/NEJMoa1700554. Green open access
file

F

Fazal, SV; Gomez-Sanchez, JA; Wagstaff, LJ; Musner, N; Otto, G; Janz, M; Mirsky, R; (2017) Graded elevation of c-Jun in Schwann cells in vivo: gene dosage determines effects on development, re-myelination, tumorigenesis and hypomyelination. Journal of Neuroscience , 37 (50) pp. 12297-12313. 10.1523/JNEUROSCI.0986-17.2017. Green open access
file

Forsythe, E; Sparks, K; Best, S; Borrows, S; Hoskins, B; Sabir, A; Barrett, T; ... Beales, PL; + view all (2017) Risk Factors for Severe Renal Disease in Bardet-Biedl Syndrome. Journal of the American Society of Nephrology , 28 (3) pp. 963-970. 10.1681/ASN.2015091029. Green open access
file

G

Geissler, JM; International Parkinson Disease Genomics Consortium members, ; Romanos, M; Gerlach, M; Berg, D; Schulte, C; (2017) No genetic association between attention-deficit/hyperactivity disorder (ADHD) and Parkinson’s disease in nine ADHD candidate SNPs. ADHD Attention Deficit and Hyperactivity Disorders , 9 (2) pp. 121-127. 10.1007/s12402-017-0219-8. Green open access
file

Gevers, EF; Meredith, S; Shah, P; Torpiano, J; Peters, C; Sebire, NJ; Slater, O; ... Dattani, MT; + view all (2017) Cushing syndrome in a child due to pro-opiomelanocortin (POMC) secretion from a yolk sac tumor. Eur J Endocrinol , 176 (2) K1-K7. 10.1530/EJE-16-0776. Green open access
filefilefilefile

Goos, JAC; Swagemakers, SMA; Twigg, SRF; van Dooren, MF; Hoogeboom, AJM; Beetz, C; Günther, S; ... Hurst, J; + view all (2017) Identification of causative variants in TXNL4A in Burn-McKeown Syndrome and isolated choanal atresia. European Journal of Human Genetics , 25 pp. 1126-1133. 10.1038/ejhg.2017.107. Green open access
file

Gregory, LC; (2017) Investigation of new candidate genes in a cohort of patients with familial congenital hypopituitarism and associated disorders. Doctoral thesis , UCL (University College London). Green open access
file

Griffiths, WJ; Abdel-Khalik, J; Crick, PJ; Ogundare, M; Shackleton, CH; Tuschl, K; Kwok, MK; ... Wang, Y; + view all (2017) Sterols and oxysterols in plasma from Smith-Lemli-Opitz syndrome patients. The Journal of Steroid Biochemistry and Molecular Biology , 169 pp. 77-87. 10.1016/j.jsbmb.2016.03.018. Green open access
file

Gruber, R; Rogerson, C; Windpassinger, C; Banushi, B; Straatman-Iwanowska, A; Hanley, J; Forneris, F; ... Gissen, P; + view all (2017) Autosomal Recessive Keratoderma-Ichthyosis- Deafness (ARKID) Syndrome Is Caused by VPS33B Mutations Affecting Rab Protein Interaction and Collagen Modification. JOURNAL OF INVESTIGATIVE DERMATOLOGY , 137 (4) pp. 845-854. 10.1016/j.jid.2016.12.010. Green open access
file

H

Hanley, J; Kumar Dhar, D; Mazzacuva, F; Fiadeiro, R; Burden, JJ; Lyne, AM; Smith, H; ... Gissen, P; + view all (2017) Vps33b is Crucial for Structural and Functional Hepatocyte Polarity. Journal of Hepatology , 66 (5) pp. 1001-1011. 10.1016/j.jhep.2017.01.001. Green open access
file

Hart, SL; (2017) Prospects for RNA delivery with nanotechnologies. [Editorial comment]. Gene Therapy , 24 (3) p. 121. 10.1038/gt.2017.15. Green open access
file

Hart, SL; Harrison, PT; (2017) Genetic therapies for cystic fibrosis lung disease. Current Opinion in Pharmacology , 34 pp. 119-124. 10.1016/j.coph.2017.10.006. Green open access
file

Hartill, VL; van de Hoek, G; Patel, MP; Little, R; Watson, CM; Berry, IR; Shoemark, A; ... Johnson, CA; + view all (2017) DNAAF1 links heart laterality with the AAA+ ATPase RUVBL1 and ciliary intraflagellar transport. Human Molecular Genetics 10.1093/hmg/ddx422. (In press). Green open access
file

He, CH; Black, DS; Allan, CM; Meunier, B; Rahman, S; Clarke, CF; (2017) Human COQ9 Rescues a coq9 Yeast Mutant by Enhancing Coenzyme Q Biosynthesis from 4-Hydroxybenzoic Acid and Stabilizing the CoQ-Synthome. Frontiers in Physiology , 8 , Article 463. 10.3389/fphys.2017.00463. Green open access
file

Hendricks, AE; Bochukova, EG; Marenne, G; Keogh, JM; Atanassova, N; Bounds, R; Wheeler, E; ... Bhattacharyaa, S; + view all (2017) Rare Variant Analysis of Human and Rodent Obesity Genes in Individuals with Severe Childhood Obesity. Scientific Reports , 7 (1) , Article 4394. 10.1038/s41598-017-03054-8. Green open access
file

Heywood, W; Preece, RL; Pryce, J; Clayton, R; Hallqvist, J; Virasami, A; Mills, K; (2017) Proteomic profiling reveals sub proteomes of the human placenta. Placenta , 59 pp. 69-72. 10.1016/j.placenta.2017.09.014. Green open access
file

Hibar, DP; Adams, HH; Jahanshad, N; Chauhan, G; Stein, JL; Hofer, E; Renteria, ME; ... Ikram, MA; + view all (2017) Novel genetic loci associated with hippocampal volume. Nature Communications , 8 , Article 13624. 10.1038/ncomms13624. Green open access
filefilefile

Hikmat, O; Charalampos, T; Klingenberg, C; Rasmussen, M; Tallaksen, CME; Brodtkorb, E; Fiskerstrand, T; ... Bindoff, LA; + view all (2017) The presence of anaemia negatively influences survival in patients with POLG disease. Journal of Inherited Metabolic Disease , 40 (6) pp. 861-866. 10.1007/s10545-017-0084-9. Green open access
filefile

Hikmat, O; Tzoulis, C; Chong, WK; Chentouf, L; Klingenberg, C; Fratter, C; Carr, LJ; ... Rahman, S; + view all (2017) The clinical spectrum and natural history of early-onset diseases due to DNA polymerase gamma mutations. Genetics in Medicine , 19 (11) pp. 1217-1225. 10.1038/gim.2017.35. Green open access
file

Hill, M; Oteng-Ntim, E; Forya, F; Petrou, M; Morris, S; Chitty, LS; (2017) Preferences for prenatal diagnosis of sickle-cell disorder: A discrete choice experiment comparing potential service users and health-care providers. Health Expectations , 20 (6) pp. 1289-1295. 10.1111/hex.12568. Green open access
file

I

Illingworth, CJR; Roy, S; Beale, MA; Tutill, H; Williams, R; Breuer, J; (2017) On the effective depth of viral sequence data. Virus Evolution , 3 (2) , Article vex030. 10.1093/ve/vex030. Green open access
filefilefilefilefilefile

Improda, N; Ponmani, C; Schoenmakers, N; Senniappan, S; Atterbury, A; Barnicoat, A; Chatterjee, K; (2017) Intrafamilial Phenotypic Variability and Consequences of Non-Compliance with Treatment in Congenital Adrenal Hyperplasia and Congenital Hypothyroidism within a Single Family. Hormone Research in Paediatrics , 88 (2) pp. 172-178. 10.1159/000465521. Green open access
filefilefilefile

J

Jansen, IE; Ye, H; Heetveld, S; Lechler, MC; Michels, H; Seinstra, RI; Lubbe, SJ; ... Heutink, P; + view all (2017) Discovery and functional prioritization of Parkinson's disease candidate genes from large-scale whole exome sequencing. Genome Biology , 18 , Article 22. 10.1186/s13059-017-1147-9. Green open access
file

K

Kammermeier, J; Dziubak, R; Pescarin, M; Drury, S; Godwin, H; Reeve, K; Chadokufa, S; ... Shah, N; + view all (2017) Phenotypic and genotypic characterisation of inflammatory bowel disease presenting before the age of 2 years. Journal of Crohn's and Colitis , 11 (1) pp. 60-69. 10.1093/ecco-jcc/jjw118. Green open access
file

Karaa, A; Rahman, S; Lombes, A; Yu-Wai-Man, P; Sheikh, MK; Alai-Hansen, S; Cohen, BH; ... Goldstein, A; + view all (2017) Common data elements for clinical research in mitochondrial disease: a National Institute for Neurological Disorders and Stroke project. Journal of Inherited Metabolic Disease , 40 (3) pp. 403-414. 10.1007/s10545-017-0035-5. Green open access
file

Karda, R; Perocheau, DP; Suff, N; Ng, J; Delhove, JMKM; Buckley, SMK; Richards, S; ... Waddington, SN; + view all (2017) Continual conscious bioluminescent imaging in freely moving somatotransgenic mice. Sci Rep , 7 (1) , Article 6374. 10.1038/s41598-017-06696-w. Green open access
file

Katugampola, H; King, PJ; Chatterjee, S; Meso, M; Duncan, AJ; Achermann, JC; Guasti, L; ... Storr, HL; + view all (2017) Kisspeptin Is a Novel Regulator of Human Fetal Adrenocortical Development and Function: A Finding With Important Implications for the Human Fetoplacental Unit. The Journal of Clinical Endocrinology & Metabolism , 102 (9) pp. 3349-3359. 10.1210/jc.2017-00763. Green open access
file

Kenny, J; Bacchelli, C; Forsythe, E; Beales, P; (2017) Toward personalized medicine in Bardet-Biedl syndrome. Personalized Medicine 10.2217/pme-2017-0019. (In press). Green open access
file

Kenny, J; Woollacott, I; Koriath, C; Hosszu, L; Adamson, G; Rudge, P; Rossor, MN; ... Mead, S; + view all (2017) A novel prion protein variant in a patient with semantic dementia. [Letter]. Journal of Neurology Neurosurgery and Psychiatry , 2017 (88) pp. 890-892. 10.1136/jnnp-2017-315577. Green open access
file

Khabbush, A; Orford, M; Tsai, Y-C; Rutherford, T; O'Donnell, M; Eaton, S; Heales, SJR; (2017) Neuronal decanoic acid oxidation is markedly lower than that of octanoic acid: A mechanistic insight into the medium-chain triglyceride ketogenic diet. Epilepsia , 58 (8) pp. 1423-1429. 10.1111/epi.13833. Green open access
file

Kilpinen, H; Goncalves, A; Leha, A; Afzal, V; Alasoo, K; Ashford, S; Bala, S; ... Gaffney, DJ; + view all (2017) Common genetic variation drives molecular heterogeneity in human iPSCs. Nature , 546 (7658) pp. 370-375. 10.1038/nature22403. Green open access
file

Kinsler, VA; Larue, L; (2017) The patterns of birthmarks suggest a novel population of melanocyte precursors arising around the time of gastrulation. Pigment Cell and Melanoma Research 10.1111/pcmr.12645. (In press). Green open access
file

Kinsler, VA; O'Hare, P; Bulstrode, N; Calonje, JE; Chong, WK; Hargrave, D; Jacques, T; ... Slater, O; + view all (2017) Melanoma in congenital melanocytic naevi. British Journal of Dermatology , 176 (5) pp. 1131-1143. 10.1111/bjd.15301. Green open access
file

Kinsler, VA; O'Hare, P; Jacques, T; Hargrave, D; Slater, O; (2017) MEK inhibition appears to improve symptom control in primary NRAS-driven CNS melanoma in children. British Journal of Cancer 10.1038/bjc.2017.49. (In press). Green open access
file

Kyriakakis, N; Shonibare, T; Kyaw-Tun, J; Lynch, J; Lagos, CF; Achermann, JC; Murray, RD; (2017) Late-onset X-linked adrenal hypoplasia (DAX-1, NR0B1): two new adult-onset cases from a single center. Pituitary , 20 (5) pp. 585-593. 10.1007/s11102-017-0822-x. Green open access
file

Kör, D; Yılmaz, BŞ; Bulut, FD; Ceylaner, S; Mungan, NÖ; (2017) Improved metabolic control in tetrahydrobiopterin (BH4), responsive phenylketonuria with sapropterin administered in two divided doses vs. a single daily dose. Journal of Pediatric Endocrinology and Metabolism , 30 (7) pp. 713-718. 10.1515/jpem-2016-0461. Green open access
file

L

Le Quesne Stabej, P; James, C; Ocaka, L; Tekman, M; Grunewald, S; Clement, E; Stanescu, HC; ... Bitner-Glindzicz, M; + view all (2017) An example of the utility of genomic analysis for fast and accurate clinical diagnosis of complex rare phenotypes. Orphanet Journal of Rare Diseases , 12 , Article 24. 10.1186/s13023-017-0582-8. Green open access
file

Lewis, C; Hill, M; Chitty, LS; (2017) Offering non-invasive prenatal testing as part of routine clinical service. Can high levels of informed choice be maintained? Prenatal Diagnosis , 37 (11) pp. 1130-1137. 10.1002/pd.5154. Green open access
file

Liao, L; Gan, H-W; Hwa, V; Dattani, M; Dauber, A; (2017) Two Siblings with a Mutation in CCDC8 Presenting with Mild Short Stature: A Case of 3-M Syndrome. Hormone Research in Paediatrics , 88 pp. 364-370. 10.1159/000477907. Green open access
file

Lorvellec, M; Scottoni, F; Crowley, C; Fiadeiro, R; Maghsoudlou, P; Pellegata, AF; Mazzacuva, F; ... Gissen, P; + view all (2017) Mouse decellularised liver scaffold improves human embryonic and induced pluripotent stem cells differentiation into hepatocyte-like cells. PLoS One , 12 (12) , Article e0189586. 10.1371/journal.pone.0189586. Green open access
file

M

Maas, RR; Iwanicka-Pronicka, K; Ucar, SK; Alhaddad, B; AlSayed, M; Al-Owain, MA; Al-Zaidan, HI; ... Wortmann, SB; + view all (2017) Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases. Annals of Neurology , 82 (6) pp. 1004-1015. 10.1002/ana.25110. Green open access
file

Maldonado, EM; Leoncikas, V; Fisher, CP; Moore, JB; Plant, NJ; Kierzek, AM; (2017) Integration of Genome Scale Metabolic Networks and Gene Regulation of Metabolic Enzymes With Physiologically Based Pharmacokinetics. CPT: Pharmacometrics & Systems Pharmacology , 6 (11) pp. 732-746. 10.1002/psp4.12230. Green open access
file

Manole, A; Jaunmuktane, Z; Hargreaves, I; Ludtmann, MHR; Salpietro, V; Bello, OD; Pope, S; ... Houlden, H; + view all (2017) Clinical, pathological and functional characterization of riboflavin-responsive neuropathy. Brain , 140 (11) pp. 2820-2837. 10.1093/brain/awx231. Green open access
filefile

Manunta, MDI; Tagalakis, AD; Attwood, M; Aldossary, AM; Barnes, JL; Munye, MM; Weng, A; ... Hart, SL; + view all (2017) Delivery of ENaC siRNA to epithelial cells mediated by a targeted nanocomplex: a therapeutic strategy for cystic fibrosis. Scientific Reports , 7 , Article 700. 10.1038/s41598-017-00662-2. Green open access
filefile

Marotta, D; Tinelli, E; Mole, SE; (2017) NCLs and ER: A stressful relationship. Biochim Biophys Acta , 1863 (6) pp. 1273-1281. 10.1016/j.bbadis.2017.04.003. Green open access
file

Marrosu, E; Ala, P; Muntoni, F; Zhou, H; (2017) Gapmer Antisense Oligonucleotides Suppress the Mutant Allele of COL6A3 and Restore Functional Protein in Ullrich Muscular Dystrophy. Molecular Therapy - Nucleic Acids , 8 pp. 416-427. 10.1016/j.omtn.2017.07.006. Green open access
file

Martin, MD; Jay, F; Castellano, S; Slatkin, M; (2017) Determination of genetic relatedness from low- coverage human genome sequences using pedigree simulations. Molecular ecology , 26 (16) pp. 4145-4157. 10.1111/mec.14188. Green open access
file

Matalonga, L; Bravo, M; Serra-Peinado, C; García-Pelegrí, E; Ugarteburu, O; Vidal, S; Llambrich, M; ... Girós, M; + view all (2017) Mutations in TRAPPC11 are associated with a congenital disorder of glycosylation. Human Mutation , 38 (2) pp. 148-151. 10.1002/humu.23145. Green open access
file

Melhem, M; Abu-Farha, M; Antony, D; Al Madhoun, A; Bacchelli, C; Alkayal, F; AlKhairi, I; ... Alsmadi, O; + view all (2017) Novel G6B gene variant causes familial autosomal recessive thrombocytopenia and anemia. European Journal of Haematology , 98 (3) pp. 218-227. 10.1111/ejh.12819. Green open access
file

Meyer, E; Carss, KJ; Rankin, J; Nichols, JM; Grozeva, D; Joseph, AP; Mencacci, NE; ... Kurian, MA; + view all (2017) Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia. Nature Genetics , 49 (2) pp. 223-237. 10.1038/ng.3740. Green open access
file

Mishra, A; Ferrari, R; Heutink, P; Hardy, J; Pijnenburg, Y; Posthuma, D; (2017) Gene-based association studies report genetic links for clinical subtypes of frontotemporal dementia. Brain , 140 (5) pp. 1437-1446. 10.1093/brain/awx066. Green open access
file

Mitchison, HM; (2017) A high prevalence CCDC103 p.His154Pro mutation causing primary ciliary dyskinesia disrupts protein oligomerisation and is associated with normal diagnostic investigations. Thorax 10.1136/thoraxjnl-2017-210776. Green open access
filefilefilefilefilefile

Mitchison, HM; Shoemark, A; (2017) Motile cilia defects in diseases other than primary ciliary dyskinesia: The contemporary diagnostic and research role for transmission electron microscopy. Ultrastructural Pathology , 41 (6) pp. 415-427. 10.1080/01913123.2017.1370050. Green open access
filefilefilefile

Mitchison, HM; Valente, EM; (2017) Motile and non-motile cilia in human pathology: from function to phenotypes. The Journal of Pathology , 241 (2) pp. 294-309. 10.1002/path.4843. Green open access
file

Mohamed-Ahmed, AHA; Wilson, MP; Albuera, M; Chen, T; Mills, PB; Footitt, PB; Clayton, PT; (2017) Quality and stability of extemporaneous pyridoxal phosphate preparations used in the treatment of paediatric epilepsy. Journal of Pharmacy and Pharmacology , 69 (4) pp. 480-488. 10.1111/jphp.12701. Green open access
file

Mole, SE; (2017) The value of a comprehensive natural history in late infantile CLN5 disease. Developmental Medicine and Child Neurology , 59 (8) pp. 777-778. 10.1111/dmcn.13472. Green open access
file

Moran, C; Habeb, AM; Kahaly, GJ; Kampmann, C; Hughes, M; Marek, J; Rajanayagam, O; ... Chatterjee, K; + view all (2017) Homozygous Resistance to Thyroid Hormone β: Can Combined Antithyroid Drug and Triiodothyroacetic Acid Treatment Prevent Cardiac Failure? Journal of the Endocrine Society , 1 (9) pp. 1203-1212. 10.1210/js.2017-00204. Green open access
filefilefilefilefile

Muggenthaler, MM; Chowdhury, B; Hasan, SN; Cross, HE; Mark, B; Harlalka, GV; Patton, MA; ... Chioza, BA; + view all (2017) Mutations in HYAL2, Encoding Hyaluronidase 2, Cause a Syndrome of Orofacial Clefting and Cor Triatriatum Sinister in Humans and Mice. PLoS Genetics , 13 (1) , Article e1006470. 10.1371/journal.pgen.1006470. Green open access
file

Munye, MM; Diaz-Font, A; Ocaka, L; Henriksen, ML; Lees, M; Brady, A; Jenkins, D; ... Hernandez-Hernandez, V; + view all (2017) COLEC10 is mutated in 3MC patients and regulates early craniofacial development. PLoS Genet , 13 (3) , Article e1006679. 10.1371/journal.pgen.1006679. Green open access
file

Munye, MM; Shoemark, A; Hirst, RA; Delhove, JM; Sharp, TV; McKay, TR; O'Callaghan, C; ... Hart, SL; + view all (2017) BMI-1 extends proliferative potential of human bronchial epithelial cells whilst retaining their mucociliary differentiation capacity. American Journal of Physiology - Lung Cellular and Molecular Physiology , 312 (2) L258-L267. 10.1152/ajplung.00471.2016. Green open access
file

O

Olcese, C; Patel, MP; Shoemark, A; Kiviluoto, S; Legendre, M; Williams, HJ; Vaughan, CK; ... Mitchison, HM; + view all (2017) X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3. Nature Communications , 8 , Article 14279. 10.1038/ncomms14279. Green open access
filefile

Oud, MM; Tuijnenburg, P; Hempel, M; van Vlies, N; Ren, Z; Ferdinandusse, S; Jansen, MH; ... Kuijpers, TW; + view all (2017) Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome. American Journal of Human Genetics , 100 (2) pp. 281-296. 10.1016/j.ajhg.2017.01.013. Green open access
file

Oxenford, K; Daley, R; Lewis, C; Hill, M; Chitty, LS; (2017) Development and evaluation of training resources to prepare health professionals for counselling pregnant women about non-invasive prenatal testing for Down syndrome: a mixed methods study. BMC Pregnancy and Childbirth , 17 , Article 132. 10.1186/s12884-017-1315-7. Green open access
file

P

Paillusson, S; Gomez-Suaga, P; Stoica, R; Little, D; Gissen, P; Devine, MJ; Noble, W; ... Miller, CCJ; + view all (2017) α-Synuclein binds to the ER-mitochondria tethering protein VAPB to disrupt Ca(2+) homeostasis and mitochondrial ATP production. Acta Neuropathol 10.1007/s00401-017-1704-z. (In press). Green open access
file

Parikh, S; Goldstein, A; Karaa, A; Koenig, MK; Anselm, I; Brunel-Guitton, C; Christodoulou, J; ... Chinnery, PF; + view all (2017) Response to Newman et al. Genetics in Medicine , 19 (12) , Article 1380. 10.1038/gim.2017.164. Green open access
file

Parikh, S; Goldstein, A; Karaa, A; Koenig, MK; Anselm, I; Brunel-Guitton, C; Christodoulou, J; ... Chinnery, PF; + view all (2017) Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society. Genetics in Medicine , 19 , Article 1380. 10.1038/gim.2017.107. Green open access
filefilefilefile

Parviainen, L; Dihanich, S; Anderson, GW; Wong, AM; Brooks, HR; Abeti, R; Rezaie, P; ... Cooper, JD; + view all (2017) Glial cells are functionally impaired in juvenile neuronal ceroid lipofuscinosis and detrimental to neurons. Acta Neuropathologica Communications , 5 , Article 74. 10.1186/s40478-017-0476-y. Green open access
file

Passaro, D; Abarrategi, A; Foster, K; Ariza-McNaughton, L; Bonnet, D; (2017) Bioengineering of Humanized Bone Marrow Microenvironments in Mouse and Their Visualization by Live Imaging. Journal of Visualized Experiments , 126 , Article e55914. 10.3791/55914. Green open access
file

Passaro, D; Di Tullio, A; Abarrategi, A; Rouault-Pierre, K; Foster, K; Ariza-McNaughton, L; Montaner, B; ... Bonnet, D; + view all (2017) Increased Vascular Permeability in the Bone Marrow Microenvironment Contributes to Disease Progression and Drug Response in Acute Myeloid Leukemia. Cancer Cell , 32 (3) 324-341.e6. 10.1016/j.ccell.2017.08.001. Green open access
file

Patterson, MC; Clayton, P; Gissen, P; Anheim, M; Bauer, P; Bonnot, O; Dardis, A; ... Marquardt, T; + view all (2017) Recommendations for the detection and diagnosis of Niemann-Pick disease type C: An update. Neurol Clin Pract , 7 (6) pp. 499-511. 10.1212/CPJ.0000000000000399. Green open access
file

Peall, KJ; Ng, J; Dy, ME; Sharma, N; Pope, S; Heales, S; Friedman, JR; (2017) Low CSF 5-HIAA in Myoclonus Dystonia. Movement Disorder , 32 (11) pp. 1647-1649. 10.1002/mds.27117. Green open access
file

Peskett, E; Kumar, S; Baird, W; Jaiswal, J; Li, M; Patel, P; Britto, JA; (2017) Analysis of the Fgfr2C342Y mouse model shows condensation defects due to misregulation of Sox9 expression in prechondrocytic mesenchyme. Biol Open 10.1242/bio.022178. Green open access
file

Peters, H; Francis, K; Sconza, R; Horn, A; Peckham, C; Tookey, PA; Thorne, C; (2017) UK Mother to Child HIV Transmission Rates Continue to Decline: 2012-2014. Clinical Infectious Diseases , 64 (4) pp. 527-528. 10.1093/cid/ciw791. Green open access
file

Plumptre, I; Polubothu, S; Thomas, D; Kinsler, V; (2017) White Eyelashes and Red Eyes in a 7‐Year‐Old Boy. Pediatric Dermatology , 34 (5) pp. 612-613. 10.1111/pde.13213. Green open access
file

Polubothu, S; Kinsler, VA; (2017) The ethnic profile of patients with birthmarks reveals interaction of germline and postzygotic genetics. [Letter]. British Journal of Dermatology , 176 (5) pp. 1385-1387. 10.1111/bjd.15260. Green open access
file

Polubothu, S; Scott, RH; Vabres, P; Kinsler, VA; (2017) Atypical dermal melanocytosis: A diagnostic clue in constitutional mismatch repair deficiency syndrome. British Journal of Dermatology 10.1111/bjd.15532. (In press). Green open access
file

Prasad, R; Hadjidemetriou, I; Maharaj, A; Meimaridou, E; Buonocore, F; Saleem, M; Hurcombe, J; ... Metherell, LA; + view all (2017) Sphingosine-1-phosphate lyase mutations cause primary adrenal insufficiency and steroid-resistant nephrotic syndrome. Journal of Clinical Investigation , 127 (3) pp. 942-953. 10.1172/JCI90171. Green open access
file

Pronicka, E; Ropacka-Lesiak, M; Trubicka, J; Pajdowska, M; Linke, M; Ostergaard, E; Saunders, C; ... Additional individual contributors, .; + view all (2017) A scoring system predicting the clinical course of CLPB defect based on the foetal and neonatal presentation of 31 patients. Journal of Inherited Metabolic Disease 10.1007/s10545-017-0057-z. (In press). Green open access
file

R

Rahman, J; Noronha, A; Thiele, I; Rahman, S; (2017) Leigh map: A novel computational diagnostic resource for mitochondrial disease. Annals of Neurology , 81 (1) pp. 9-16. 10.1002/ana.24835. Green open access
file

Reid, ES; Williams, H; Anderson, G; Benatti, M; Chong, K; James, C; Ocaka, L; ... Clayton, PT; + view all (2017) Mutations in SLC25A22: hyperprolinaemia, vacuolated fibroblasts and presentation with developmental delay. Journal of Inherited Metabolic Disease , 40 (3) pp. 385-394. 10.1007/s10545-017-0025-7. Green open access
file

Renaud, M; Tranchant, C; Torres Martin, JV; Mochel, F; Synofzik, M; van de Warrenburg, B; Pandolfo, M; ... the Working Group, RADIAL; + view all (2017) Recessive Ataxia Diagnosis Algorithm for the Next Generation Sequencing Era. Annals of Neurology , 82 (6) pp. 892-899. 10.1002/ana.25084. Green open access
file

Ritchie, DL; Adlard, P; Peden, AH; Lowrie, S; Le Grice, M; Burns, K; Jackson, RJ; ... Ironside, JW; + view all (2017) Amyloid-β accumulation in the CNS in human growth hormone recipients in the UK. Acta Neuropathologica , 134 (2) pp. 221-240. 10.1007/s00401-017-1703-0. Green open access
file

Ritchie, DL; Barria, MA; Peden, AH; Yull, HM; Kirkpatrick, J; Adlard, P; Ironside, JW; (2017) UK Iatrogenic Creutzfeldt-Jakob disease: investigating human prion transmission across genotypic barriers using human tissue-based and molecular approaches. Acta Neuropathol , 133 (4) pp. 579-595. 10.1007/s00401-016-1638-x. Green open access
file

Robak, LA; Jansen, IE; van Rooij, J; Uitterlinden, AG; Kraaij, R; Jankovic, J; Heutink, P; (2017) Excessive burden of lysosomal storage disorder gene variants in Parkinson's disease. Brain , 140 (12) pp. 3191-3203. 10.1093/brain/awx285. Green open access
file

Robson, EA; Chetcuti, P; Hirst, RA; Mitchison, H; Moya, E; Peckham, D; Robinson, PJ; ... O'Callaghan, C; + view all (2017) Update on primary ciliary dyskinesia. Paediatrics and Child Health , 27 (7) pp. 337-342. 10.1016/j.paed.2017.03.007. Green open access
file

Rouault-Pierre, K; Mian, SA; Goulard, M; Abarrategi, A; Di Tulio, A; Smith, AE; Mohamedali, A; ... Bonnet, D; + view all (2017) Preclinical modeling of myelodysplastic syndromes. Leukemia , 31 (12) pp. 2702-2708. 10.1038/leu.2017.172. Green open access
file

S

Salpietro, V; Efthymiou, S; Manole, A; Maurya, B; Wiethoff, S; Ashokkumar, B; Cutrupi, MC; ... Houlden, H; + view all (2017) A loss-of-function homozygous mutation in DDX59 implicates a conserved DEAD-box RNA helicase in nervous system development and function. Hum Mutat 10.1002/humu.23368. (In press). Green open access
file

Salpietro, V; Zollo, M; Vandrovcova, J; Ryten, M; Botia, JA; Ferrucci, V; Manole, A; ... Houlden, H; + view all (2017) The phenotypic and molecular spectrum of PEHO syndrome and PEHO-like disorders. Brain , 140 (8) e49. 10.1093/brain/awx155. Green open access
filefile

Sardone, V; Zhou, H; Muntoni, F; Ferlini, A; Falzarano, MS; (2017) Antisense Oligonucleotide-Based Therapy for Neuromuscular Disease. Molecules , 22 (4) , Article 563. 10.3390/molecules22040563. Green open access
file

Savastano, CP; Brito, LA; Faria, ÁC; Setó-Salvia, N; Peskett, E; Musso, CM; Alvizi, L; ... Passos-Bueno, MR; + view all (2017) Impact of rare variants in ARHGAP29 to the etiology of oral clefts: role of loss-of-function vs missense variants. Clinical Genetics , 91 (5) pp. 683-689. 10.1111/cge.12823. Green open access
file

Schoeler, NE; Bell, G; Yuen, A; Kapelner, AD; Heales, SJR; Cross, JH; Sisodiya, S; (2017) An examination of biochemical parameters and their association with response to ketogenic dietary therapies. Epilepsia , 58 (5) pp. 893-900. 10.1111/epi.13729. Green open access
file

Scott, TA; Quintaneiro, LM; Norvaisas, P; Lui, PP; Wilson, MP; Leung, K-Y; Herrera-Dominguez, L; ... Cabreiro, F; + view all (2017) Host-Microbe Co-metabolism Dictates Cancer Drug Efficacy in C. elegans. Cell , 169 (3) 442-456.e18. 10.1016/j.cell.2017.03.040. Green open access
file

Shimizu, H; Langenbacher, AD; Huang, J; Wang, K; Otto, G; Geisler, R; Wang, Y; (2017) The Calcineurin-FoxO-MuRF1 signaling pathway regulates myofibril integrity in cardiomyocytes. eLife , 6 , Article e27955. 10.7554/eLife.27955. Green open access
file

Shoemark, A; Frost, E; Dixon, M; Ollosson, S; Kilpin, K; Patel, M; Scully, J; ... Hogg, C; + view all (2017) Accuracy of Immunofluorescence in the Diagnosis of Primary Ciliary Dyskinesia. American Journal of Respiratory and Critical Care Medicine , 196 (1) pp. 94-101. 10.1164/rccm.201607-1351OC. Green open access
file

Soreq, L; UK Brain Expression Consortium, .; North American Brain Expression Consortium, .; Rose, J; Soreq, E; Hardy, J; Trabzuni, D; ... Ule, J; + view all (2017) Major Shifts in Glial Regional Identity Are a Transcriptional Hallmark of Human Brain Aging. Cell Reports , 18 (2) pp. 557-570. 10.1016/j.celrep.2016.12.011. Green open access
file

T

Tagalakis, AD; Maeshima, R; Yu-Wai-Man, C; Meng, J; Syed, F; Wu, LP; Aldossary, AM; ... Hart, SL; + view all (2017) Peptide and nucleic acid-directed self-assembly of cationic nanovehicles through giant unilamellar vesicle modification: targetable nanocomplexes for in vivo nucleic acid delivery. Acta Biomaterialia 10.1016/j.actbio.2017.01.048. (In press). Green open access
file

Thompson, CL; Plant, JC; Wann, AK; Bishop, CL; Novak, P; Mitchison, HM; Beales, PL; ... Knight, MM; + view all (2017) Chondrocyte expansion is associated with loss of primary cilia and disrupted hedgehog signalling. European Cells and Materials , 34 pp. 128-141. 10.22203/eCM.v034a09. Green open access
file

Titre-Johnson, S; Schoeler, N; Eltze, C; Williams, R; Vezyroglou, K; McCullagh, H; Freemantle, N; ... Cross, JH; + view all (2017) Ketogenic diet in the treatment of epilepsy in children under the age of 2 years: study protocol for a randomised controlled trial. Trials , 18 , Article 195. 10.1186/s13063-017-1918-3. Green open access
filefile

Tomaz, RA; Harman, JL; Karimlou, D; Weavers, L; Fritsch, L; Bou-Kheir, T; Bell, E; ... Azuara, V; + view all (2017) Jmjd2c facilitates the assembly of essential enhancer-protein complexes at the onset of embryonic stem cell differentiation. Development , 144 (4) pp. 567-579. 10.1242/dev.142489. Green open access
file

Tuschl, K; Gregory, A; Meyer, E; Clayton, PT; Hayflick, SJ; Mills, PB; Kurian, MA; (2017) SLC39A14 Deficiency. GeneReviews Green open access
file

V

Viner, RM; White, B; Amin, R; Peters, C; Khanolkar, A; Christie, D; Hindmarsh, PC; (2017) Impact of deprivation, ethnicity, and insulin pump therapy on developmental trajectories of diabetes control in COB type 1 diabetes. Pediatric Diabetes , 18 (5) pp. 384-391. 10.1111/pedi.12407. Green open access
file

Vink, CA; Counsell, JR; Perocheau, DP; Karda, R; Buckley, SMK; Brugman, MH; Galla, M; ... Howe, SJ; + view all (2017) Eliminating HIV-1 Packaging Sequences from Lentiviral Vector Proviruses Enhances Safety and Expedites Gene Transfer for Gene Therapy. Molecular Therapy , 25 (8) pp. 1790-1804. 10.1016/j.ymthe.2017.04.028. Green open access
file

W

Wassenberg, T; Molero-Luis, M; Jeltsch, K; Hoffmann, GF; Assmann, B; Blau, N; Garcia-Cazorla, A; ... Opladen, T; + view all (2017) Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency. Orphanet Journal of Rare Diseases , 12 , Article 12. 10.1186/s13023-016-0522-z. Green open access
file

Williams, DM; Buxton, JL; Kantomaa, MT; Tammelin, TH; Blakemore, AIF; Järvelin, M-R; (2017) Associations of Leukocyte Telomere Length With Aerobic and Muscular Fitness in Young Adults. American Journal of Epidemiology , 185 (7) pp. 529-537. 10.1093/aje/kww123. Green open access
filefile

Wilson, MP; Footitt, EJ; Papandreou, A; Uudelepp, M-L; Pressler, R; Stevenson, DC; Gabriel, C; ... Mills, PB; + view all (2017) An LC-MS/MS-Based Method for the Quantification of Pyridox(am)ine 5'-Phosphate Oxidase Activity in Dried Blood Spots from Patients with Epilepsy. Analytical Chemistry , 89 (17) pp. 8892-8900. 10.1021/acs.analchem.7b01358. Green open access
filefilefile

Witoelar, A; Jansen, IE; Wang, Y; Desikan, RS; Gibbs, JR; Blauwendraat, C; Thompson, WK; ... International Parkinson’s Disease Genomics Consortium (IPDGC), N, .; + view all (2017) Genome-wide Pleiotropy Between Parkinson Disease and Autoimmune Diseases. JAMA Neurology , 74 (7) pp. 780-792. 10.1001/jamaneurol.2017.0469. Green open access
file

Wortmann, SB; Chen, MA; Colombo, R; Pontoglio, A; Alhaddad, B; Botto, LD; Yuzyuk, T; ... and additional individual contributors, .; + view all (2017) Mild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequences. Journal of Inherited Metabolic Disease , 40 (3) pp. 423-431. 10.1007/s10545-017-0015-9. Green open access
file

Y

Yokoyama, JS; Karch, CM; Fan, CC; Bonham, LW; Kouri, N; Ross, OA; Rademakers, R; ... Desikan, RS; + view all (2017) Shared genetic risk between corticobasal degeneration, progressive supranuclear palsy, and frontotemporal dementia. Acta Neuropathologica , 133 (5) pp. 825-837. 10.1007/s00401-017-1693-y. Green open access
file

Yu Wai Man, C; Tagalakis, AD; Meng, JH; Bouremel, Y; Lee, RM; Virasami, A; Hart, SL; (2017) Genotype-Phenotype Associations of IL6 and PRG4 With Conjunctival Fibrosis After Glaucoma Surgery. JAMA Ophthalmology , 135 (11) pp. 1147-1155. 10.1001/jamaophthalmol.2017.3407.

Yu-Wai-Man, C; Owen, N; Lees, J; Tagalakis, AD; Hart, SL; Webster, AR; Orengo, CA; (2017) Genome-wide RNA-Sequencing analysis identifies a distinct fibrosis gene signature in the conjunctiva after glaucoma surgery. Scientific Reports , 7 , Article 5644. 10.1038/s41598-017-05780-5. Green open access
file

This list was generated on Sun Apr 11 23:37:50 2021 BST.