Browse by UCL Departments and Centres
Group by: Author | Type
Number of items: 158.
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.
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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.
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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
, 95
(6)
pp. 818-840.
10.1111/cen.14528.
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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.
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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).
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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.
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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.
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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.
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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.
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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.
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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.
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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).
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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.
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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.
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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.
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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.
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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.
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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.
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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).
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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.
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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).
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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D
Da Silva Filipe, Ana;
Shepherd, James G;
Williams, Thomas;
Hughes, Joseph;
Aranday-Cortes, Elihu;
Asamaphan, Patawee;
Ashraf, Shirin;
... Thomson, Emma C; + view all
(2021)
Genomic epidemiology reveals multiple introductions of SARS-CoV-2 from mainland Europe into Scotland.
Nature Microbiology
, 6
pp. 112-122.
10.1038/s41564-020-00838-z.
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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.
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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.
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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.
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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.
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E
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.
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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.
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F
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.
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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).
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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.
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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.
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Fozzato, Arianna;
Telešova, Greta;
(2021)
Insight on novel mechanisms mediating the generation of inflammatory pain in somatosensory neurons.
The Journal of Physiology
, 599
(12)
pp. 2999-3001.
10.1113/jp281677.
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G
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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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H
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.
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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).
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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).
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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.
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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.
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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).
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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
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Cerebrospinal fluid neurofilament light chain levels in CLN2 disease patients treated with enzyme replacement therapy normalise after two years on treatment.
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Urine Proteomics Analysis of Patients with Neuronal Ceroid Lipofuscinoses.
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The Genetics of Inherited Cholestatic Disorders in Neonates and Infants: Evolving Challenges.
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An integrated genomic approach to dissect the genetic landscape regulating the cell-to-cell transfer of α-synuclein.
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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).
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Genomewide Association Studies of LRRK2 Modifiers of Parkinson's Disease.
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Identification of a wide spectrum of ciliary gene mutations in nonsyndromic biliary atresia patients implicates ciliary dysfunction as a novel disease mechanism.
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Higher throughput drug screening for rare respiratory diseases: Readthrough therapy in primary ciliary dyskinesia.
European Respiratory Journal
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ASL expression in ALDH1A1+ neurons in the substantia nigra metabolically contributes to neurodegenerative phenotype.
Human Genetics
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Mixed-methods evaluation of the NHS Genomic Medicine Service for paediatric rare diseases: study protocol [version 1; peer review: awaiting peer review].
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Dealing with uncertain results from chromosomal microarray and exome sequencing in the prenatal setting: an international cross-sectional study with healthcare professionals.
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Urinary oxidized, but not enzymatic vitamin E metabolites are inversely associated with measures of glucose homeostasis in middle-aged healthy individuals.
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Newborn Screening for Biotinidase Deficiency. The Experience of a Regional Center in Italy.
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A genetic link between risk for Alzheimer's disease and severe COVID-19 outcomes via the OAS1 gene.
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British Journal of Dermatology
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The contribution of X-linked coding variation to severe developmental disorders.
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Janus-faced EPHB4-associated disorders: novel pathogenic variants and unreported intrafamilial overlapping phenotypes.
Genetics in Medicine
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Immunophenotype of systemic lupus erythematosus and Sjogren´s syndrome patients identified two endotypes with potential therapeutic implications.
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Immunophenotype of Sjögren´s syndrome and systemic lupus erythematosus patients identified two endotypes with potential therapeutic implications.
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Gene Therapy for Lysosomal Storage Disorders: Ongoing Studies and Clinical Development.
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Missplicing due to a synonymous, T96= exonic substitution in the T-box transcription factor TBX19 resulting in isolated ACTH deficiency.
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ZSWIM7 is associated with human female meiosis and familial primary ovarian insufficiency.
The Journal of clinical endocrinology and metabolism
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Recurrent emergence of SARS-CoV-2 spike deletion H69/V70 and its role in the Alpha variant B.1.1.7.
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Association of measures of body fat with serum alpha-tocopherol and its metabolites in middle-aged individuals.
Nutrition, Metabolism & Cardiovascular Diseases
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3D Printing and Engineering Tools Relevant to Plan a Transcatheter Procedure.
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Global network analysis in Schizosaccharomyces pombe reveals three distinct consequences of the common 1-kb deletion causing juvenile CLN3 disease.
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A Case Series on Genotype and Outcome of Liver Transplantation in Children with Niemann-Pick Disease Type C.
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Guidelines on the diagnosis, clinical assessments, treatment and management for CLN2 disease patients.
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COngenital heart disease and the Diagnostic yield with Exome sequencing (CODE Study): prospective cohort study and systematic review.
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Using Whole Genome Sequences to Investigate Adenovirus Outbreaks in a Hematopoietic Stem Cell Transplant Unit.
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Gene therapy restores dopamine transporter expression and ameliorates pathology in iPSC and mouse models of infantile parkinsonism.
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Optogenetic modeling of human neuromuscular circuits in Duchenne muscular dystrophy with CRISPR and pharmacological corrections.
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Inherited duplications of PPP2R3B predispose to nevi and melanoma via a C21orf91-driven proliferative phenotype.
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