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1دورية أكاديمية
المؤلفون: Smith, CEL, Laugel-Haushalter, V, Hany, U, Best, S, Taylor, RL, Poulter, JA, Wortmann, SB, Feichtinger, RG, Mayr, JA, Al Bahlani, S, Nikolopoulos, G, Rigby, A, Black, GC, Watson, CM, Mansour, S, Inglehearn, CF, Mighell, AJ, Bloch-Zupan, A, UK Inherited Retinal Disease Consortium, Genomics England Resear
وصف الملف: application/pdf
العلاقة: https://openaccess.sgul.ac.uk/id/eprint/116451/11/jmg-2023-109728.full.pdfTest; https://openaccess.sgul.ac.uk/id/eprint/116451/6/PlexinB2%20proof%20paper.pdfTest; Smith, CEL; Laugel-Haushalter, V; Hany, U; Best, S; Taylor, RL; Poulter, JA; Wortmann, SB; Feichtinger, RG; Mayr, JA; Al Bahlani, S; et al. Smith, CEL; Laugel-Haushalter, V; Hany, U; Best, S; Taylor, RL; Poulter, JA; Wortmann, SB; Feichtinger, RG; Mayr, JA; Al Bahlani, S; Nikolopoulos, G; Rigby, A; Black, GC; Watson, CM; Mansour, S; Inglehearn, CF; Mighell, AJ; Bloch-Zupan, A; UK Inherited Retinal Disease Consortium, Genomics England Resear (2024) Biallelic variants in Plexin B2 (PLXNB2) cause amelogenesis imperfecta, hearing loss and intellectual disability. J Med Genet. ISSN 1468-6244 https://doi.org/10.1136/jmg-2023-109728Test SGUL Authors: Mansour, Sahar
الإتاحة: https://doi.org/10.1136/jmg-2023-109728Test
https://openaccess.sgul.ac.uk/id/eprint/116451Test/
https://openaccess.sgul.ac.uk/id/eprint/116451/11/jmg-2023-109728.full.pdfTest
https://openaccess.sgul.ac.uk/id/eprint/116451/6/PlexinB2%20proof%20paper.pdfTest -
2دورية أكاديمية
المؤلفون: Inglehearn, CF, Yahya, S, Smith, CEL, Poulter, JA, Ali, M, Toomes, C, Ellingford, J, Black, GC, Arno, G, Webster, AR
وصف الملف: text
العلاقة: https://eprints.whiterose.ac.uk/195820/1/Response%20to%20Mustafi%20and%20Chao.docxTest; https://eprints.whiterose.ac.uk/195820/3/Response%20to%20Mustafi%20and%20Chao.pdfTest; Inglehearn, CF orcid.org/0000-0002-5143-2562 , Yahya, S orcid.org/0000-0002-3710-1011 , Smith, CEL orcid.org/0000-0001-8320-5105 et al. (7 more authors) (2023) Reply. Ophthalmology, 130 (3). e9-e10. ISSN 0161-6420
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3دورية أكاديمية
المؤلفون: McClinton, B, Crinnion, LA, McKibbin, M, Mukherjee, R, Poulter, JA, Smith, CEL, Ali, M, Watson, CM, Inglehearn, CF, Toomes, C
وصف الملف: text
العلاقة: https://eprints.whiterose.ac.uk/197564/7/Molec%20Gen%20%20%20Gen%20Med%20-%202023%20-%20McClinton%20-%20Targeted%20nanopore%20sequencing%20enables%20complete%20characterisation%20of%20structural.pdfTest; McClinton, B, Crinnion, LA, McKibbin, M et al. (7 more authors) (2023) Targeted nanopore sequencing enables complete characterisation of structural deletions initially identified using exon-based short-read sequencing strategies. Molecular Genetics and Genomic Medicine, 11 (6). e2164. ISSN 2324-9269
الإتاحة: https://eprints.whiterose.ac.uk/197564Test/
https://eprints.whiterose.ac.uk/197564/7/Molec%20Gen%20%20%20Gen%20Med%20-%202023%20-%20McClinton%20-%20Targeted%20nanopore%20sequencing%20enables%20complete%20characterisation%20of%20structural.pdfTest -
4دورية أكاديمية
المؤلفون: Reijnders, MRF, Seibt, A, Brugger, M, Lamers, IJC, Ott, T, Klaas, O, Horvath, J, Rose, AMS, Craghill, IM, Brunet, T, Graf, E, Mayerhanser, K, Hellebrekers, D, Pauck, D, Neuen-Jacob, E, Rodenburg, RJT, Wieczorek, D, Klee, D, Mayatepek, E, Driessen, G, Bindermann, R, Averdunk, L, Lohmeier, K, Sinnema, M, Stegmann, APA, Roepman, R, Poulter, JA, Distelmaier, F
وصف الملف: text
العلاقة: https://eprints.whiterose.ac.uk/198140/8/De%20novo%20missense%20variants%20in%20RRAGC%20lead%20to%20a%20fatal.pdfTest; Reijnders, MRF, Seibt, A, Brugger, M et al. (25 more authors) (2023) De novo missense variants in RRAGC lead to a fatal mTORopathy of early childhood. Genetics in Medicine, 25 (7). 100838. ISSN 1098-3600
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5دورية أكاديمية
المؤلفون: Yahya, S, Smith, CEL, Poulter, JA, McKibbin, M, Arno, G, Ellingford, J, Kämpjärvi, K, Khan, MI, Cremers, FPM, Hardcastle, AJ, Castle, B, Steel, DHW, Webster, AR, The UK Inherited Retinal Disease Consortium, Genomics England Research Consortium, Black, GC, El-Asrag, ME, Ali, M, Toomes, C, Inglehearn, CF
وصف الملف: text
العلاقة: https://eprints.whiterose.ac.uk/190501/3/PIIS0161642022005656.pdfTest; Yahya, S, Smith, CEL orcid.org/0000-0001-8320-5105 , Poulter, JA orcid.org/0000-0003-2048-5693 et al. (17 more authors) (2023) Late-onset autosomal dominant macular degeneration caused by deletion of the CRX gene. Ophthalmology, 130 (1). pp. 68-76. ISSN 0161-6420
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6دورية أكاديمية
المؤلفون: Panneman, DM, Hitti-Malin, RJ, Holtes, LK, de Bruijn, SE, Reurink, J, Boonen, EGM, Khan, MI, Ali, M, Andréasson, S, De Baere, E, Banfi, S, Bauwens, M, Ben-Yosef, T, Bocquet, B, De Bruyne, M, de la Cerda, B, Coppieters, F, Farinelli, P, Guignard, T, Inglehearn, CF, Karali, M, Kjellström, U, Koenekoop, R, de Koning, B, Leroy, BP, McKibbin, M, Meunier, I, Nikopoulos, K, Nishiguchi, KM, Poulter, JA, Rivolta, C, Rodríguez de la Rúa, E, Saunders, P, Simonelli, F, Tatour, Y, Testa, F, Thiadens, AAHJ, Toomes, C, Tracewska, AM, Tran, HV, Ushida, H, Vaclavik, V, Verhoeven, VJM, van de Vorst, M, Gilissen, C, Hoischen, A, Cremers, FPM, Roosing, S
وصف الملف: text
العلاقة: https://eprints.whiterose.ac.uk/196829/1/Cost-effective%20sequence%20analysis%20of%20113%20genes%20in%201,192%20probands%20with%20retinitis%20pigmentosa%20and%20Leber%20congenital%20amaurosis.pdfTest; Panneman, DM, Hitti-Malin, RJ, Holtes, LK et al. (45 more authors) (2023) Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis. Frontiers in Cell and Developmental Biology, 11. 1112270. ISSN 2296-634X
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7دورية أكاديمية
المؤلفون: Elpidorou, M, Poulter, JA, Szymanska, K, Baron, W, Junger, K, Boldt, K, Ueffing, M, Green, L, Livingston, JH, Sheridan, EG, Johnson, CA
وصف الملف: text
العلاقة: https://eprints.whiterose.ac.uk/184118/6/s41431-022-01050-9.pdfTest; Elpidorou, M, Poulter, JA orcid.org/0000-0003-2048-5693 , Szymanska, K et al. (8 more authors) (2022) Missense mutation of MAL causes a rare leukodystrophy similar to Pelizaeus-Merzbacher disease. European Journal of Human Genetics, 30 (7). pp. 860-864. ISSN 1018-4813
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8دورية أكاديمية
المؤلفون: Caseley, EA, Lara-Reyna, S, Poulter, JA, Topping, J, Carter, C, Nadat, F, Spickett, GP, Savic, S, McDermott, MF
وصف الملف: text
العلاقة: https://eprints.whiterose.ac.uk/179761/6/Caseley2022_Article_AnAtypicalAutoinflammatoryDise.pdfTest; Caseley, EA orcid.org/0000-0001-7591-143X , Lara-Reyna, S, Poulter, JA orcid.org/0000-0003-2048-5693 et al. (6 more authors) (2022) An Atypical Autoinflammatory Disease Due to an LRR Domain NLRP3 Mutation Enhancing Binding to NEK7. Journal of Clinical Immunology, 42 (1). pp. 158-170. ISSN 0271-9142
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9دورية أكاديمية
المؤلفون: Best, S, Lord, J, Roche, M, Watson, CM, Poulter, JA, Bevers, RPJ, Stuckey, A, Szymanska, K, Ellingford, JM, Carmichael, J, Brittain, H, Toomes, C, Inglehearn, CF, Johnson, CA, Wheway, G, Genomics England Research Consortium
وصف الملف: text
العلاقة: https://eprints.whiterose.ac.uk/178481/19/737.full.pdfTest; Best, S, Lord, J, Roche, M et al. (13 more authors) (2022) Molecular diagnoses in the congenital malformations caused by ciliopathies cohort of the 100,000 Genomes Project. Journal of Medical Genetics, 59 (8). pp. 737-747. ISSN 0022-2593
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10دورية أكاديمية
المؤلفون: Taylor, RL, Poulter, JA, Downes, SM, McKibbin, M, Khan, KN, Inglehearn, CF, Webster, AR, Hardcastle, AJ, Michaelides, M, Bishop, PN, Clark, SJ, Black, GC, Consortium, United Kingdom Inherited Retinal Dystrophy, Halford, S
العلاقة: https://ora.ox.ac.uk/objects/uuid:6c7b167b-17a4-4ac8-8efa-db8b7d0f340fTest; https://doi.org/10.1016/j.ophtha.2019.03.013Test
الإتاحة: https://doi.org/10.1016/j.ophtha.2019.03.013Test
https://ora.ox.ac.uk/objects/uuid:6c7b167b-17a4-4ac8-8efa-db8b7d0f340fTest
