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1Academic Journal
المؤلفون: Laver, TW, Wakeling, MN, Caswell, RC, Bunce, B, Yau, D, Männistö, JME, Houghton, JAL, Hopkins, JJ, Weedon, MN, Saraff, V, Kershaw, M, Honey, EM, Murphy, N, Giri, D, Nath, S, Tangari Saredo, A, Banerjee, I, Hussain, K, Owens, NDL, Flanagan, SE
وصف الملف: 1-6
Relation: https://www.diabetesgenes.org/current-research/genetic-beta-cell-research-bank/; https://www.ncbi.nlm.nih.gov/assembly/GCF_000001405.13/; https://www.ncbi.nlm.nih.gov/pubmed/38605124; orcid:0000-0001-6399-0089 (Laver, Thomas W); orcid:0000-0002-6542-9241 (Wakeling, Matthew N); orcid:0000-0002-5094-9148 (Hopkins, Jasmin J); orcid:0000-0002-2151-9923 (Owens, Nick DL); orcid:0000-0002-8670-6340 (Flanagan, Sarah E); Published online 11 April 2024; https://doi.org/10.1038/s41431-024-01593-z; 223187/Z/21/Z; http://hdl.handle.net/10871/135896; European Journal of Human Genetics
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2Academic Journal
المؤلفون: Hopkins, JJ, Wakeling, MN, Johnson, MB, Flanagan, SE, Laver, TW
المساهمون: Chen, J-M
وصف الملف: 1-6
Relation: Human Mutation, 2023; orcid:0000-0002-5094-9148 (Hopkins, Jasmin J); orcid:0000-0002-6542-9241 (Wakeling, Matthew N); orcid:0000-0002-6519-6687 (Johnson, Matthew B); ScopusID: 57191429364 (Johnson, Matthew B); orcid:0000-0002-8670-6340 (Flanagan, Sarah E); ScopusID: 13408960500 (Flanagan, Sarah E); orcid:0000-0001-6399-0089 (Laver, Thomas W); ScopusID: 6506037245 (Laver, Thomas W); Vol. 2023, article 8857940; https://doi.org/10.1155/2023/8857940; 223187/Z/21/Z; http://hdl.handle.net/10871/134767; Human Mutation: Variation, Informatics and Disease
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3Academic Journal
المؤلفون: Russ-Silsby, J, Patel, KA, Laver, TW, Hawkes, G, Johnson, MB, Wakeling, MN, Patil, PP, Hattersley, AT, Flanagan, SE, Weedon, MN, De Franco, E
مصطلحات موضوعية: Neonatal Diabetes, Type 2 Diabetes, Maturity-Onset Diabetes of the Young (MODY), Genetic Research, Monogenic Diabetes, Clinical Genetics, Pancreatic Development
وصف الملف: db230498-; Print-Electronic
Relation: https://www.ncbi.nlm.nih.gov/pubmed/37639628; https://www.ukbiobank.ac.uk/; Diabetes; Published online 28 August 2023; https://doi.org/10.2337/db23-0498; 19/0005994; 21/0006335; MR/T00200X/1; 224600/Z/21/Z; http://hdl.handle.net/10871/133885
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4Academic Journal
المؤلفون: Wakeling, MN, Owens, NDL, Hopkinson, JR, Johnson, MB, Houghton, JAL, Dastamani, A, Flaxman, CS, Wyatt, RC, Hewat, TI, Hopkins, JJ, Laver, TW, van Heugten, R, Weedon, MN, De Franco, E, Patel, KA, Ellard, S, Morgan, NG, Cheesman, E, Banerjee, I, Hattersley, AT, Dunne, MJ, Richardson, SJ, Flanagan, SE
Relation: https://www.ncbi.nlm.nih.gov/pubmed/36333503; https://www.diabetesgenes.org/current‐research/genetic‐ beta‐cell‐research‐bank/; Nat Genet; orcid:0000-0002-6542-9241 (Wakeling, Matthew N); orcid:0000-0002-2151-9923 (Owens, Nick DL); orcid:0000-0002-5330-760X (Hewat, Thomas I); orcid:0000-0001-6399-0089 (Laver, Thomas W); orcid:0000-0002-1437-7891 (De Franco, Elisa); orcid:0000-0003-1537-8113 (Morgan, Noel G); orcid:0000-0001-5620-473X (Hattersley, Andrew T); orcid:0000-0002-1160-6062 (Richardson, Sarah J); orcid:0000-0002-8670-6340 (Flanagan, Sarah E); Vol. 54, pp. 1615–1620; https://doi.org/10.1038/s41588-022-01204-x; 105636/Z/14/Z; http://hdl.handle.net/10871/132283; Nature Genetics
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5Academic Journal
المؤلفون: Hopkins, JJ, Childs, AJ, Houghton, JAL, Hewat, TI, Atapattu, N, Johnson, MB, Patel, KA, Laver, TW, Flanagan, SE
مصطلحات موضوعية: hyperinsulinism, hypoglycaemia, genetic testing, monogenic disease, childhood
Relation: orcid:0000-0002-5094-9148 (Hopkins, Jasmin); Vol. 108 (3), pp. 680 - 687; 223187/Z/21/Z; 219606/Z/19/Z; http://hdl.handle.net/10871/131256; The Journal of Clinical Endocrinology & Metabolism
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6Academic Journal
المؤلفون: Laver, TW, Wakeling, MN, Knox, O, Colclough, K, Wright, CF, Ellard, S, Hattersley, AT, Weedon, MN, Patel, KA
وصف الملف: Print-Electronic
Relation: https://www.ncbi.nlm.nih.gov/pubmed/35108381; https://gnomad.broadinstitute.org/; Diabetes; orcid:0000-0001-6399-0089 (Laver, Thomas W); ScopusID: 6506037245 (Laver, Thomas W); orcid:0000-0001-5620-473X (Hattersley, Andrew T); orcid:0000-0002-6174-6135 (Weedon, Michael N); orcid:0000-0002-9240-8104 (Patel, Kashyap A); ScopusID: 57188657944 (Patel, Kashyap A); Published online 2 February 2022; https://doi.org/10.2337/db21-0844; MR/T00200X/1; 19/0005994; 219606/Z/19/Z; WT098395/Z/12/Z; http://hdl.handle.net/10871/129140
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7Academic Journal
المؤلفون: Patel, KA, Burman, S, Laver, TW, Hattersley, AT, Frayling, TM, Weedon, MN
مصطلحات موضوعية: HDL, PLIN1, lipodystrophy, triglycerides
وصف الملف: dgac104-; Print-Electronic
Relation: https://www.ncbi.nlm.nih.gov/pubmed/35235652; J Clin Endocrinol Metab; orcid:0000-0001-6399-0089 (Laver, Thomas W); ScopusID: 6506037245 (Laver, Thomas W); orcid:0000-0001-5620-473X (Hattersley, Andrew T); orcid:0000-0001-8362-2603 (Frayling, Timothy M); orcid:0000-0002-6174-6135 (Weedon, Michael N); Vol. 107 (6), pp. 2318–e2323; https://doi.org/10.1210/clinem/dgac104; 19/0005994; MR/T00200X/1; 19606/Z/19/Z; WT098395/Z/12/Z; http://hdl.handle.net/10871/130138; Journal of Clinical Endocrinology and Metabolism
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8Academic Journal
المؤلفون: Hewat, TI, Yau, D, Jerome, JCS, Laver, TW, Houghton, JAL, Shields, BM, Flanagan, SE, Patel, KA
Relation: Published online 1 October 2021; 105636/Z/14/Z; 219606/Z/19/Z; http://hdl.handle.net/10871/127429; European Journal of Endocrinology
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9Academic Journal
المؤلفون: Yau D, Laver TW, Dastamani A, Senniappan S, Houghton JAL, Shaikh G, Cheetham T, Mushtaq T, Kapoor RR, Randell T, Ellard S, Shah P, Banerjee I, Flanagan SE
المصدر: PLoS ONE, 2020
وصف الملف: application/pdf
Relation: https://eprints.ncl.ac.uk/263779; https://eprints.ncl.ac.uk/fulltext.aspx?url=263779/4328FA94-FBF5-4493-95F8-9A4F5983175F.pdf&pub_id=263779
الاتاحة: https://eprints.ncl.ac.uk/263779
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10Academic Journal
المؤلفون: Banerjee, I, Senniappan, S, Laver, TW, Caswell, R, Zenker, M, Mohnike, K, Cheetham, T, Wakeling, MN, Ismail, D, Lennerz, B, Splitt, M, Berberoğlu, M, Empting, S, Wabitsch, M, Pötzsch, S, Shah, P, Siklar, Z, Verge, CF, Weedon, MN, Ellard, S, Hussain, K, Flanagan, SE
مصطلحات موضوعية: Chromosome 9p, Deletions, Hyperinsulinism, Hypoglycaemia
Relation: Vol. 4, article 149; 105636; http://hdl.handle.net/10871/122710; Wellcome Open Research
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11Academic Journal
المؤلفون: Yau, D, Laver, TW, Dastamani, A, Senniappan, S, Houghton, JAL, Shaikh, G, Cheetham, T, Mushtaq, T, Kapoor, RR, Randell, T, Ellard, S, Shah, P, Banerjee, I, Flanagan, SE
Relation: Vol. 15, pp. e0228417 - e0228417; MR/M023265/1; http://hdl.handle.net/10871/40767; PLOS ONE
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12Academic Journal
المؤلفون: Wakeling, MN, Laver, TW, Colclough, K, Parish, A, Ellard, S, Baple, EL
مصطلحات موضوعية: multi nucleotide variants, GnomAD, GATK, variant calling, next generation sequencing, genetic testing
Relation: Vol. 4, article 145; 098395; SG/16-17/02; http://hdl.handle.net/10871/40401; Wellcome Open Research
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13Academic Journal
المؤلفون: De Franco, E, Lytrivi, M, Ibrahim, H, Montaser, H, Wakeling, M, Fantuzzi, F, Patel, K, Demarez, C, Cai, Y, Igoillo-Esteve, M, Cosentino, C, Lithovius, V, Vihinen, H, Jokitalo, E, Laver, TW, Johnson, MB, Sawatani, T, Shakeri, H, Pachera, N, Haliloglu, B, Ozbek, MN, Unal, E, Yıldırım, R, Godbole, T, Yildiz, M, Aydin, B, Bilheu, A, Suzuki, I, Flanagan, SE, Vanderhaeghen, P, Senée, V, Julier, C, Marchetti, P, Eizirik, DL, Ellard, S, Saarimäki-Vire, J, Otonkoski, T, Cnop, M, Hattersley, AT
مصطلحات موضوعية: Diabetes, Microcephaly, Epilepsy, Endoplasmic reticulum, Golgi, Mutation
Relation: Published online 9 November 2020; 19/0005971; WT098395/Z/12/Z; 105636/Z/14/Z; http://hdl.handle.net/10871/122680; Journal of Clinical Investigation
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14Academic Journal
المؤلفون: Houghton, JAL, Banerjee, I, Shaikh, G, Jabbar, S, Laver, TW, Cheesman, E, Chinnoy, A, Yau, D, Salomon‐Estebanez, M, Dunne, MJ, Flanagan, SE
مصطلحات موضوعية: Mosaic disease, Congenital Hyperinsulinism, ABCC8, Pancreas
Relation: Vol. 6 (1), pp. 12-16; MR/M023265/1; http://hdl.handle.net/10871/38838; Journal of Pathology: Clinical Research
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15Academic Journal
المؤلفون: Wright, CF, West, B, Tuke, M, Jones, SE, Patel, K, Laver, TW, Beaumont, RN, Tyrrell, J, Wood, AR, Frayling, TM, Hattersley, AT, Weedon, MN
مصطلحات موضوعية: genotyping, rare variant, SNP-chip, pathogenicity, penetrance, biobank, genetic, variant
Relation: Published online 18 January 2019; MR/M005070/1; 110082/Z/15/Z; 105636/Z/14/Z; WT098395/Z/12/Z; http://hdl.handle.net/10871/35593; American Journal of Human Genetics
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16Academic Journal
المؤلفون: Wakeling, MN, Laver, TW, Wright, CF, De Franco, E, Stals, KL, Patch, A-M, Hattersley, AT, Flanagan, SE, Ellard, S
مصطلحات موضوعية: ACMG guidelines, Mendelian disease, genetic diagnosis, recessive disease, variant interpretation
Relation: https://www.ncbi.nlm.nih.gov/pubmed/30279471; Published online 3 October 2018; http://hdl.handle.net/10871/34252; Genetics in Medicine
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17Academic Journal
المؤلفون: Laver, TW, Wakeling, M, Hua, JHY, Houghton, J, Hussain, K, Ellard, S, Flanagan, S
مصطلحات موضوعية: genetic screening, hyperinsulinaemia hypoglycaemia of infancy, medical genetics, molecular diagnostics, mutation, neonatal hyperinsulinism, syndrome
Relation: Published online 23 August 2018; http://hdl.handle.net/10871/34092; Clinical Endocrinology
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18Academic Journal
المؤلفون: Laver, TW, Patel, KA, Colclough, K, Curran, J, Dale, J, Davis, N, Savage, DB, Flanagan, SE, Ellard, S, Hattersley, AT, Weedon, MN
مصطلحات موضوعية: Human Genetics, Lipodystrophy, Genetic Screening, Familial Partial Lipodystrophy, Monogenics
Relation: https://www.ncbi.nlm.nih.gov/pubmed/30020498; Vol. 103 (9), pp. 3225–3230; http://hdl.handle.net/10871/33637; Journal of Clinical Endocrinology and Metabolism
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19Academic Journal
المؤلفون: Patel KA, Kettunen J, Laakso M, Stancáková A, Laver TW, Colclough K, Johnson MB, Abramowicz M, Groop L, Miettinen PJ, Shepherd MH, Flanagan SE, Ellard S, Inagaki N1, Hattersley AT, Tuomi T, Cnop M, Weedon MN
المساهمون: School of Medicine / Clinical Medicine
مصطلحات موضوعية: Diabetes, Genetic testing, Medical genomics
Relation: Nature Communications; http://dx.doi.org/10.1038/s41467-017-00895-9; info:eu-repo/grantAgreement/EC/H2020-EU.3.1./667191/EU/Development of a systems biomedicine approach for risk identification, prevention and treatment of type 2 diabetes/T2DSystems; 888; https://erepo.uef.fi/handle/123456789/5261
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20Academic Journal
المؤلفون: Patel, KA, Kettunen, J, Laakso, M, Stančáková, A, Laver, TW, Colclough, K, Johnson, MB, Abramowicz, M, Groop, L, Miettinen, PJ, Shepherd, MH, Flanagan, SE, Ellard, S, Inagaki, N, Hattersley, AT, Tuomi, T, Cnop, M, Weedon, MN
Relation: The majority of data used in this study are publically available and can be accessed via the studies cited in the text. Considering issues of patient confidentiality and restrictions in IRB permissions, other original data are available through specific request.; https://www.ncbi.nlm.nih.gov/pubmed/29026101; Vol. 8, article 888; http://hdl.handle.net/10871/30205; Nature Communications
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