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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: 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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5دورية أكاديميةSpectrum of pathogenic variants and founder effects in amelogenesis imperfecta associated with MMP20
المؤلفون: Nikolopoulos, G, Smith, CEL, Poulter, JA, Murillo, G, Silva, S, Brown, CJ, Day, PF, Soldani, F, Al-Bahlani, S, Harris, SA, O’Connell, MJ, Inglehearn, CF, Mighell, AJ
وصف الملف: text
العلاقة: https://eprints.whiterose.ac.uk/180540/1/Spectrum%20of%20pathogenic%20variants.pdfTest; Nikolopoulos, G orcid.org/0000-0003-3166-8372 , Smith, CEL orcid.org/0000-0001-8320-5105 , Poulter, JA orcid.org/0000-0003-2048-5693 et al. (10 more authors) (2021) Spectrum of pathogenic variants and founder effects in amelogenesis imperfecta associated with MMP20. Human Mutation, 42 (5). pp. 567-576. ISSN 1059-7794
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6دورية أكاديمية
المؤلفون: De Bruijn, SE, Fiorentino, A, Ottaviani, D, Fanucchi, S, Melo, US, Corral-Serrano, JC, Mulders, T, Georgiou, M, Rivolta, C, Pontikos, N, Arno, G, Roberts, L, Greenberg, J, Albert, S, Gilissen, C, Aben, M, Rebello, G, Mead, S, Raymond, FL, Corominas, J, Smith, CEL, Kremer, H, Downes, S, Black, GC, Webster, AR, Inglehearn, CF, Van den Born, LI, Koenekoop, RK, Michaelides, M, Ramesar, RS, Hoyng, CB, Mundlos, S, Mhlanga, MM, Cremers, FPM, Cheetham, ME, Roosing, S, Hardcastle, AJ
المصدر: American Journal of Human Genetics (2020) (In press).
مصطلحات موضوعية: GDPD, Hi-C, RP17, dominant retinitis pigmentosa, ectopic expression, photoreceptor precursors cells, retinal organoids, stem cells, structural variants, topologically associated domains, whole-genome sequencing
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10112269/1/1-s2.0-S0002929720303220-main.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10112269Test/
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7دورية أكاديمية
المؤلفون: Nikolopoulos, G, Smith, CEL, Brookes, SJ, El‐Asrag, ME, Brown, CJ, Patel, A, Murillo, G, O'Connell, MJ, Inglehearn, CF, Mighell, AJ
وصف الملف: text
العلاقة: https://eprints.whiterose.ac.uk/157075/8/cge.13721.pdfTest; Nikolopoulos, G orcid.org/0000-0003-3166-8372 , Smith, CEL orcid.org/0000-0001-8320-5105 , Brookes, SJ et al. (7 more authors) (2020) New missense variants in RELT causing hypomineralised amelogenesis imperfecta. Clinical Genetics, 97 (5). pp. 688-695. ISSN 0009-9163
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8دورية أكاديمية
المؤلفون: Whitehouse, LLE, Smith, CEL, Poulter, JA, Brown, CJ, Patel, A, Lamb, T, Brown, LR, O'Sullivan, EA, Mitchell, RE, Berry, IR, Charlton, R, Inglehearn, CF, Mighell, AJ
وصف الملف: text
العلاقة: https://eprints.whiterose.ac.uk/134220/18/Whitehouse_et_al-2019-Oral_Diseases.pdfTest; Whitehouse, LLE, Smith, CEL orcid.org/0000-0001-8320-5105 , Poulter, JA orcid.org/0000-0003-2048-5693 et al. (10 more authors) (2019) Novel DLX3 variants in amelogenesis imperfecta with attenuated tricho‐dento‐osseous syndrome. Oral Diseases, 25 (1). pp. 182-191. ISSN 1354-523X
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9دورية أكاديمية
المؤلفون: Smith, CEL, Poulter, JA, Brookes, SJ, Murillo, G, Silva, S, Brown, CJ, Patel, A, Hussain, H, Kirkham, J, Inglehearn, CF, Mighell, AJ
وصف الملف: text
العلاقة: https://eprints.whiterose.ac.uk/143855/8/0022034519835205.pdfTest; Smith, CEL orcid.org/0000-0001-8320-5105 , Poulter, JA orcid.org/0000-0003-2048-5693 , Brookes, SJ orcid.org/0000-0002-9097-7311 et al. (8 more authors) (2019) Phenotype and variant spectrum in the LAMB3 form of amelogenesis imperfecta. Journal of Dental Research, 98 (6). pp. 698-704. ISSN 0022-0345
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10
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, The UK Inherited Retinal Disease Consortium, Genomics England Research Consortium, Webster, AR, Black, GC, El-Asrag, ME, Ali, M, Toomes, C, Inglehearn, CF
وصف الملف: application/vnd.openxmlformats-officedocument.wordprocessingml.document
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=core_ac_uk__::e648b1ddfe054c1b1657fdd744e16b62Test
