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Number of items: 153.

1

100,000 Genomes Project Pilot Investigators; Smedley, D; Smith, KR; Martin, A; Thomas, EA; McDonagh, EM; Cipriani, V; ... Caulfield, M; + view all (2021) 100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care — Preliminary Report. New England Journal of Medicine , 385 (20) pp. 1868-1880. 10.1056/NEJMoa2035790. Green open access
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A

Abdel-Khalik, J; Hearn, T; Dickson, AL; Crick, PJ; Yutuc, E; Austin-Muttit, K; Bigger, BW; ... Wang, Y; + view all (2021) Bile Acid Biosynthesis in Smith-Lemli-Opitz Syndrome Bypassing Cholesterol: Potential Importance of Pathway Intermediates. The Journal of Steroid Biochemistry and Molecular Biology , 206 , Article 105794. 10.1016/j.jsbmb.2020.105794. Green open access
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Ahmed, SF; Achermann, JC; Alderson, J; Crouch, NS; Elford, S; Hughes, IA; Krone, NP; ... Turner, HE; + view all (2021) Society for Endocrinology UK Guidance On The Initial Evaluation Of A Suspected Difference or Disorder Of Sex Development (DSD) (Revised 2021). Clinical Endocrinology 10.1111/cen.14528. (In press). Green open access
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Alrashidi, H; Eaton, S; Heales, S; (2021) Biochemical characterization of proliferative and differentiated SH-SY5Y cell line as a model for Parkinson’s disease. Neurochemistry International , 145 , Article 105009. 10.1016/j.neuint.2021.105009. Green open access
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Altmann, A; Ryten, M; Di Nunzio, M; Ravizza, T; Tolomeo, D; Reynolds, RH; Somani, A; ... Sisodiya, SM; + view all (2021) A systems-level analysis highlights microglial activation as a modifying factor in common epilepsies. Neuropathology and Applied Neurobiology 10.1111/nan.12758. (In press). Green open access
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Andersen, MS; Bandres-Ciga, S; Reynolds, RH; Hardy, J; Ryten, M; Krohn, L; Gan-Or, Z; ... Pihlstrøm, L; + view all (2021) Heritability enrichment implicates microglia in Parkinson's disease pathogenesis. Annals of Neurology , 89 (5) pp. 942-951. 10.1002/ana.26032. 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 (2021) Skin manifestations of COVID-19 in children: Part 1. Clinical and Experimental Dermatology , 46 (3) pp. 444-450. 10.1111/ced.14481. 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 (2021) Skin manifestations of COVID‐19 in children: Part 2. Clinical and Experimental Dermatology , 46 (3) pp. 451-461. 10.1111/ced.14482. 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 (2021) Skin manifestations of COVID‐19 in children: Part 3. Clinical and Experimental Dermatology , 46 (3) pp. 462-472. 10.1111/ced.14483. Green open access
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B

Backeljauw, P; Cappa, M; Kiess, W; Law, L; Cookson, C; Sert, C; Whalen, J; (2021) Impact of short stature on quality of life: A systematic literature review. Growth Hormone and IGF Research , 57-58 , Article 101392. 10.1016/j.ghir.2021.101392. Green open access
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Baldelli, L; Schade, S; Jesús, S; Schreglmann, SR; Sambati, L; Gómez-Garre, P; Halsband, C; ... Provini, F; + view all (2021) Heterogeneity of prodromal Parkinson symptoms in siblings of Parkinson disease patients. npj Parkinson's Disease , 7 , Article 78. 10.1038/s41531-021-00219-1. Green open access
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Baltas, I; Boshier, FAT; Williams, CA; Bayzid, N; Cotic, M; Guerra-Assunção, JA; Irish-Tavares, D; ... Mahungu, TW; + view all (2021) Post-vaccination COVID-19: A case-control study and genomic analysis of 119 breakthrough infections in partially vaccinated individuals. Clinical Infectious Diseases , Article ciab714. 10.1093/cid/ciab714. (In press). Green open access
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Barile, A; Mills, P; di Salvo, ML; Graziani, C; Bunik, V; Clayton, P; Contestabile, R; (2021) Characterization of Novel Pathogenic Variants Causing Pyridox(am)ine 5 '-Phosphate Oxidase-Dependent Epilepsy. International Journal of Molecular Sciences , 22 (21) , Article 12013. 10.3390/ijms222112013. Green open access
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Baruteau, J; Cunningham, SC; Yilmaz, BS; Perocheau, DP; Eaglestone, S; Burke, D; Thrasher, AJ; ... Gissen, P; + view all (2021) Safety and efficacy of an engineered hepatotropic AAV gene therapy for ornithine transcarbamylase deficiency in cynomolgus monkeys. Molecular Therapy - Methods & Clinical Development , 23 pp. 135-146. 10.1016/j.omtm.2021.09.005. Green open access
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Betts, CA; Jagannath, A; van Westering, TLE; Bowerman, M; Banerjee, S; Meng, J; Falzarano, MS; ... Wood, MJA; + view all (2021) Dystrophin involvement in peripheral circadian SRF signalling. Life Science Alliance , 4 (10) , Article e202101014. 10.26508/lsa.202101014. 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 (2021) Comment on "A severe linezolid‐induced rhabdomyolysis and lactic acidosis in Leigh syndrome". Journal of Inherited Metabolic Disease , 44 (1) pp. 6-7. 10.1002/jimd.12329. Green open access
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Blauwendraat, C; Iwaki, H; Makarious, MB; Bandres-Ciga, S; Leonard, H; Grenn, FP; Lake, J; ... Lynch, TL; + view all (2021) Investigation of Autosomal Genetic Sex Differences in Parkinson's disease. Annals of Neurology , 90 (1) pp. 35-42. 10.1002/ana.26090. Green open access
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Bosch i Ara, L; Katugampola, H; Dattani, MT; (2021) Congenital Hypopituitarism During the Neonatal Period: Epidemiology, Pathogenesis, Therapeutic Options, and Outcome. Frontiers in Pediatrics , 8 , Article 600962. 10.3389/fped.2020.600962. Green open access
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Bremova-Ertl, T; Claassen, J; Foltan, T; Gascon-Bayarri, J; Gissen, P; Hahn, A; Hassan, A; ... Schneider, SA; + view all (2021) Efficacy and safety of N-acetyl-L-leucine in Niemann–Pick disease type C. Journal of Neurology 10.1007/s00415-021-10717-0. (In press). Green open access
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Buonocore, F; Maharaj, A; Qamar, Y; Koehler, K; Suntharalingham, JP; Chan, LF; Ferraz-de-Souza, B; ... Achermann, JC; + view all (2021) Genetic analysis of pediatric primary adrenal insufficiency of unknown etiology: 25 years’ experience in the UK. Journal of the Endocrine Society , 5 (8) , Article bvab086. 10.1210/jendso/bvab086. Green open access
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C

Carmignac, V; Mignot, C; Blanchard, E; Kuentz, P; Aubriot-Lorton, M-H; Parker, VER; Sorlin, A; ... Duvert-Lehembre, S; + view all (2021) Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities. Genetics in Medicine 10.1038/s41436-021-01161-6. (In press). Green open access
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Cerbone, M; Visser, J; Bulwer, C; Ederies, A; Vallabhaneni, K; Ball, S; Kamali-Asl, I; ... Spoudeas, HA; + view all (2021) Management of children and young people with idiopathic pituitary stalk thickening, central diabetes insipidus, or both: a national clinical practice consensus guideline. The Lancet Child & Adolescent Health , 5 (9) pp. 662-676. 10.1016/S2352-4642(21)00088-2. 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 (2021) Novel variants broaden the phenotypic spectrum of PLEKHG5-associated neuropathies. European Journal of Neurology , 28 (4) pp. 1344-1355. 10.1111/ene.14649. Green open access
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Chen, Z; Zhang, D; Reynolds, RH; Gustavsson, EK; García-Ruiz, S; D'Sa, K; Fairbrother-Browne, A; ... Ryten, M; + view all (2021) Human-lineage-specific genomic elements are associated with neurodegenerative disease and APOE transcript usage. Nature Communications , 12 , Article 2076. 10.1038/s41467-021-22262-5. Green open access
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Chia, R; Sabir, MS; Bandres-Ciga, S; Saez-Atienzar, S; Reynolds, RH; Gustavsson, E; Walton, RL; ... Scholz, SW; + view all (2021) Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture. Nature Genetics , 53 pp. 294-30353. 10.1038/s41588-021-00785-3. Green open access
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Collier, DA; De Marco, A; Ferreira, IATM; Meng, B; Datir, RP; Walls, AC; Kemp, SA; ... Gupta, RK; + view all (2021) Sensitivity of SARS-CoV-2 B.1.1.7 to mRNA vaccine-elicited antibodies. Nature , 593 pp. 136-141. 10.1038/s41586-021-03412-7. Green open access
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Collier, JJ; Guissart, C; Oláhová, M; Sasorith, S; Piron-Prunier, F; Suomi, F; Zhang, D; ... Taylor, RW; + view all (2021) Developmental Consequences of Defective ATG7-Mediated Autophagy in Humans. New England Journal of Medicine , 384 (25) pp. 2406-2417. 10.1056/NEJMoa1915722. Green open access
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Colmenero, Isabel; Knöpfel, Nicole; (2021) Venous Malformations in Childhood: Clinical, Histopathological and Genetics Update. Dermatopathology , 8 (4) pp. 477-493. 10.3390/dermatopathology8040050. 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 (2021) Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency. Journal of Inherited Metabolic Disease , 44 (1) pp. 178-192. 10.1002/jimd.12332. Green open access
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Counsell, JR; De Brabandere, G; Karda, R; Moore, M; Greco, A; Bray, A; Diaz, JA; ... Waddington, SN; + view all (2021) Re-structuring lentiviral vectors to express genomic RNA via cap-dependent translation. Molecular Therapy - Methods and Clinical Development , 20 pp. 357-365. 10.1016/j.omtm.2020.12.005. Green open access
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Coutant, R; Bosch Munoz, J; Dumitrescu, CP; Schnabel, D; Sert, C; Perrot, V; Dattani, M; (2021) Effectiveness and Overall Safety of NutropinAq (R) for Growth Hormone Deficiency and Other Paediatric Growth Hormone Disorders: Completion of the International Cooperative Growth Study, NutropinAq (R) European Registry (iNCGS). Frontiers in Endocrinology , 12 , Article 676083. 10.3389/fendo.2021.676083. Green open access
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Cozmescu, CA; Gissen, P; (2021) Rab35 controls formation of luminal projections required for bile canalicular morphogenesis. Journal of Cell Biology , 220 (10) , Article e202108047. 10.1083/jcb.202108047. Green open access
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de Silva, TI; Liu, G; Lindsey, BB; Dong, D; Moore, SC; Hsu, NS; Shah, D; ... Dong, T; + view all (2021) The impact of viral mutations on recognition by SARS-CoV-2 specific T cells. iScience , 24 (11) , Article 103353. 10.1016/j.isci.2021.103353. 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 (2021) Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis. Neuron , 109 (3) 448-460.e4. 10.1016/j.neuron.2020.11.005. Green open access
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Di Cicco, E; Moran, C; Visser, WE; Nappi, A; Schoenmakers, E; Todd, P; Lyons, G; ... Dentice, M; + view all (2021) Germ Line Mutations in the Thyroid Hormone Receptor Alpha Gene Predispose to Cutaneous Tags and Melanocytic Nevi. Thyroid , 31 (7) pp. 1114-1126. 10.1089/thy.2020.0391. Green open access
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Doykov, I; Hällqvist, J; Gilmour, KC; Grandjean, L; Mills, K; Heywood, WE; (2021) ‘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 2; peer review: 2 approved]. F1000Research , 9 , Article 1349. 10.12688/f1000research.27287.2. Green open access
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Eintracht, J; Forsythe, E; May-Simera, H; Moosajee, M; (2021) Translational readthrough of ciliopathy genes BBS2 and ALMS1 restores protein, ciliogenesis and function in patient fibroblasts. EBioMedicine , 70 , Article 103515. 10.1016/j.ebiom.2021.103515. Green open access
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Emmerzaal, TL; Nijkamp, G; Veldic, M; Rahman, S; Andreazza, AC; Morava, E; Rodenburg, RJ; (2021) Effect of neuropsychiatric medications on mitochondrial function; for better or for worse. Neuroscience & Biobehavioral Reviews , 127 pp. 555-571. 10.1016/j.neubiorev.2021.05.001. Green open access
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Fairbrother-Browne, A; Ali, AT; Reynolds, RH; Garcia-Ruiz, S; Zhang, D; Chen, Z; Ryten, M; (2021) Mitochondrial-nuclear cross-talk in the human brain is modulated by cell type and perturbed in neurodegenerative disease. Communications Biology , 4 (1) , Article 1262. 10.1038/s42003-021-02792-w. Green open access
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Feleke, R; Reynolds, RH; Smith, AM; Tilley, B; Taliun, SAG; Hardy, J; Matthews, PM; ... Ryten, M; + view all (2021) Cross-platform transcriptional profiling identifies common and distinct molecular pathologies in Lewy body diseases. Acta Neuropathologica 10.1007/s00401-021-02343-x. (In press). Green open access
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Ferreira, CR; Rahman, S; Keller, M; Zschocke, J; ICIMD advisory group; (2021) An International Classification of Inherited Metabolic Disorders (ICIMD). Journal of Inherited Metabolic Disease , 44 (1) pp. 164-177. 10.1002/jimd.12348. Green open access
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Forny, P; Footitt, E; Davison, JE; Lam, A; Woodward, CE; Batzios, S; Bhate, S; ... Rahman, S; + view all (2021) Diagnosing Mitochondrial Disorders Remains Challenging in the Omics Era. Neurology: Genetics , 7 (3) , Article e597. 10.1212/nxg.0000000000000597. Green open access
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García-Ruiz, S; Gil-Martínez, AL; Cisterna, A; Jurado-Ruiz, F; Reynolds, RH; NABEC (North America Brain Expression Consortium), .; Cookson, MR; ... Botía, JA; + view all (2021) CoExp: A Web Tool for the Exploitation of Co-expression Networks. Frontiers in Gentics , 12 , Article 630187. 10.3389/fgene.2021.630187. Green open access
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Gardner, E; Mole, SE; (2021) The Genetic Basis of Phenotypic Heterogeneity in the Neuronal Ceroid Lipofuscinoses. Frontiers in Neurology , 12 , Article 754045. 10.3389/fneur.2021.754045. Green open access
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Giram, Prabhanjan S; Wang, Julie Tzu-Wen; Walters, Adam A; Rade, Priyanka P; Akhtar, Muhammad; Han, Shunping; Faruqu, Farid N; ... Al-Jamal, Khuloud T; + view all (2021) Green synthesis of methoxy-poly(ethylene glycol)- block-poly(L-lactide-co-glycolide) copolymer using zinc proline as a biocompatible initiator for irinotecan delivery to colon cancer in vivo. Biomaterials Science , 9 (3) pp. 795-806. 10.1039/d0bm01421d. Green open access
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Gissen, P; Specchio, N; Olaye, A; Jain, M; Butt, T; Ghosh, W; Ruban-Fell, B; ... Schulz, A; + view all (2021) Investigating health-related quality of life in rare diseases: a case study in utility value determination for patients with CLN2 disease (neuronal ceroid lipofuscinosis type 2). Orphanet Journal of Rare Diseases , 16 (1) , Article 217. 10.1186/s13023-021-01829-x. Green open access
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Graham, C; Hart, S; (2021) CRISPR/Cas9 gene editing therapies for cystic fibrosis. Expert Opinion on Biological Therapy , 21 (6) pp. 767-780. 10.1080/14712598.2021.1869208. Green open access
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Graham, MS; Sudre, CH; May, A; Antonelli, M; Murray, B; Varsaysky, T; Klaser, K; ... Ourselin, S; + view all (2021) Changes in symptomatology, reinfection, and transmissibility associated with the SARS-CoV-2 variant B.1.1.7: an ecological study. Lancet Public Health , 6 (5) E335-E345. 10.1016/S2468-2667(21)00055-4. Green open access
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Gregory, LC; Gergics, P; Nakaguma, M; Bando, H; Patti, G; McCabe, MJ; Fang, Q; ... Dattani, MT; + view all (2021) The phenotypic spectrum associated with OTX2 mutations in humans. European Journal of Endocrinology , 185 (1) pp. 121-135. 10.1530/EJE-20-1453. Green open access
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Gualtieri, A; Kyprianou, N; Gregory, LC; Vignola, ML; Nicholson, JG; Tan, R; Inoue, S-I; ... Gaston-Massuet, C; + view all (2021) Activating mutations in BRAF disrupt the hypothalamo-pituitary axis leading to hypopituitarism in mice and humans. Nature Communications , 12 , Article 2028. 10.1038/s41467-021-21712-4. Green open access
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Guerra-Assunção, José Afonso; van Kampen, Jeroen JA; Roy, Sunando; Remeijer, Lies; Breuer, Judy; Verjans, Georges MGM; (2021) Cluster of Symptomatic Graft-to-Host Transmission of Herpes Simplex Virus Type 1 in an Endothelial Keratoplasty Setting. Ophthalmology Science , 1 (3) , Article 100051. 10.1016/j.xops.2021.100051. Green open access
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Gurung, S; Perocheau, D; Touramanidou, L; Baruteau, J; (2021) The exosome journey: from biogenesis to uptake and intracellular signalling. Cell Communication and Signaling , 19 (1) , Article 47. 10.1186/s12964-021-00730-1. Green open access
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Hage, C; Gan, H-W; Ibba, A; Patti, G; Dattani, M; Loche, S; Maghnie, M; (2021) Advances in differential diagnosis and management of growth hormone deficiency in children. Nature Reviews Endocrinology , 17 (10) pp. 608-624. 10.1038/s41574-021-00539-5. Green open access
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Hammond, J; Garner, I; Hill, M; Patch, C; Hunter, A; Searle, B; Sanderson, SC; (2021) Animation or leaflet: Does it make a difference when educating young people about genome sequencing? Patient Education and Counseling 10.1016/j.pec.2021.02.048. (In press). Green open access
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Hay, E; Wilson, LC; Hoskins, B; Samuels, M; Munot, P; Rahman, S; (2021) Biallelic P4HTM variants associated with HIDEA syndrome and mitochondrial respiratory chain complex I deficiency. European Journal of Human Genetics 10.1038/s41431-021-00932-8. (In press). Green open access
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Heywood, WE; Bliss, E; Bahelil, F; Cyrus, T; Crescente, M; Jones, T; Iqbal, S; ... Ackland, GL; + view all (2021) Proteomic signatures for perioperative oxygen delivery in skin after major elective surgery: mechanistic sub-study of a randomised controlled trial. British Journal of Anaesthesia , 127 (4) pp. 511-520. 10.1016/j.bja.2021.06.003. Green open access
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Hikmat, O; Isohanni, P; Keshavan, N; Ferla, MP; Fassone, E; Abbott, M-A; Bellusci, M; ... Rahman, S; + view all (2021) Expanding the phenotypic spectrum of BCS1L-related mitochondrial disease. Annals of Clinical and Translational Neurology , 8 (11) pp. 2155-2165. 10.1002/acn3.51470. Green open access
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Hill, M; Hammond, J; Sharmin, M; Lewis, C; Heathfield, M; Crowe, B; Götherström, C; ... DeVile, C; + view all (2021) Living with Osteogenesis Imperfecta: A qualitative study exploring experiences and psychosocial impact from the perspective of patients, parents and professionals. Disability and Health Journal , Article 101168. 10.1016/j.dhjo.2021.101168. (In press). Green open access
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Hitay İnan, A; Şeker Yılmaz, B; Bulut, FD; Kılavuz, S; Kor, D; Karakaş, M; Önenli Mungan, HN; (2021) Mucopolysaccharidosis Type-II with Pathognomonic Skin Appearance: A Case with Pebbling Sign. The Journal of Pediatric Research , 8 (2) pp. 206-208. 10.4274/jpr.galenos.2020.82621. Green open access
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Hughes, C; Ferro, A; Dubb, S; Gass, J; Hook, L; Santhanam, V; Kinsler, V; (2021) Epidermal choristoma: a case series and review of the literature. Pediatric Dermatology , 38 (5) pp. 1243-1246. 10.1111/pde.14589. Green open access
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Iwan, Katharina; Patel, Nina; Heslegrave, Amanda; Borisova, Mina; Lee, Laura; Bower, Rebecca; Mole, Sara E; ... Heywood, Wendy E; + view all (2021) Cerebrospinal fluid neurofilament light chain levels in CLN2 disease patients treated with enzyme replacement therapy normalise after two years on treatment. F1000Research , 10 , Article 614. 10.12688/f1000research.54556.2. Green open access
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Iwan, K; Clayton, R; Mills, P; Csanyi, B; Gissen, P; Mole, SE; Palmer, DN; ... Heywood, WE; + view all (2021) Urine Proteomics Analysis of Patients with Neuronal Ceroid Lipofuscinoses. iScience , 4 (2) , Article 102020. 10.1016/j.isci.2020.102020. Green open access
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Iwan, K; Patel, N; Heslegrave, A; Borisova, M; Lee, L; Bower, R; Mole, SE; ... Heywood, WE; + view all (2021) Cerebrospinal fluid neurofilament light levels in CLN2 disease patients treated with enzyme replacement therapy normalise after two years on treatment [version 1; peer review: 1 approved with reservations]. F1000Research , 10 , Article 614. 10.12688/f1000research.54556.1. Green open access
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Jabbari, E; Koga, S; Valentino, R; Reynolds, R; Ferrari, R; Tan, M; Rowe, J; ... Morris, H; + view all (2021) Genetic determinants of survival in progressive supranuclear palsy: a genome-wide association study. The Lancet Neurology , 20 (2) pp. 107-116. 10.1016/S1474-4422(20)30394-X. Green open access
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Jancovski, N; Baldwin, T; Orford, M; Li, M; Jones, GD; Burbano, L; Rutherford, T; ... Petrou, S; + view all (2021) Protective effects of MCT diet in a mouse model of Dravet syndrome. Epilepsia , 62 (12) pp. 3131-3142. 10.1111/epi.17101. Green open access
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Jeyaraj, R; Bounford, KM; Ruth, N; Lloyd, C; MacDonald, F; Hendriksz, CJ; Baumann, U; ... Kelly, D; + view all (2021) The Genetics of Inherited Cholestatic Disorders in Neonates and Infants: Evolving Challenges. Genes , 12 (11) , Article 1837. 10.3390/genes12111837. Green open access
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Jones, CL; Degasperi, A; Grandi, V; Amarante, TD; Genomics England Research Consortium, .; Mitchell, TJ; Nik-Zainal, S; (2021) Spectrum of mutational signatures in T-cell lymphoma reveals a key role for UV radiation in cutaneous T-cell lymphoma. Scientific Reports , 11 (1) , Article 3962. 10.1038/s41598-021-83352-4. Green open access
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Kara, E; Crimi, A; Wiedmer, A; Emmenegger, M; Manzoni, C; Bandres-Ciga, S; D'Sa, K; ... Aguzzi, A; + view all (2021) An integrated genomic approach to dissect the genetic landscape regulating the cell-to-cell transfer of α-synuclein. Cell Reports , 35 (10) , Article 109189. 10.1016/j.celrep.2021.109189. Green open access
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Kemp, SA; Collier, DA; Datir, RP; Ferreira, IATM; Gayed, S; Jahun, A; Hosmillo, M; ... Gupta, RK; + view all (2021) SARS-CoV-2 evolution during treatment of chronic infection. Nature , 592 pp. 277-282. 10.1038/s41586-021-03291-y. Green open access
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Khatun, A; Wu, W; Peng, J; Hennelly, L; Sloan, M; Bosley, M; Howard, P; ... Ciurtin, C; + view all (2021) Self-reported disease activity was the main determinant of the perceived impact of COVID-19 pandemic on adolescent and young patients with Juvenile Dermatomyositis (JDM) and Juvenile Onset Systemic Lupus Erythematosus (JSLE). Presented at: British Society for Rheumatology Annual Conference. (In press). Green open access
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Kia, DA; Zhang, D; Guelfi, S; Manzoni, C; Hubbard, L; Reynolds, RH; Botía, J; ... Botiá, JA; + view all (2021) Identification of Candidate Parkinson Disease Genes by Integrating Genome-Wide Association Study, Expression, and Epigenetic Data Sets. JAMA Neurology , 78 (4) pp. 464-472. 10.1001/jamaneurol.2020.5257. Green open access
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Kildisiute, G; Kholosy, WM; Young, MD; Roberts, K; Elmentaite, R; van Hooff, SR; Pacyna, CN; ... Behjati, S; + view all (2021) Tumor to normal single-cell mRNA comparisons reveal a pan-neuroblastoma cancer cell. Science Advances , 7 (6) , Article eabd3311. 10.1126/sciadv.abd3311. Green open access
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Kılavuz, S; Bulut, D; Kor, D; Şeker-Yılmaz, B; Özcan, N; Incecik, F; Onan, B; ... Önenli-Mungan, N; + view all (2021) The outcome of 41 Late-Diagnosed Turkish GA-1 Patients: A Candidate for the Turkish NBS. Neuropediatrics , 52 (5) pp. 358-369. 10.1055/s-0040-1722691. Green open access
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Klapwijk, JE; Srebniak, MI; Go, ATJI; Govaerts, LCP; Lewis, C; Hammond, J; Hill, M; ... Riedijk, SR; + view all (2021) How to deal with uncertainty in prenatal genomics: A systematic review of guidelines and policies. Clinical Genetics 10.1111/cge.14010. (In press). 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 (2021) Syndromic Forms of Hyperinsulinaemic Hypoglycaemia A 15-year follow-up Study. Clinical Endocrinology , 94 (3) pp. 399-412. 10.1111/cen.14393. Green open access
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This list was generated on Sun Feb 25 23:38:29 2024 GMT.