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

Relation: https://openaccess.sgul.ac.uk/id/eprint/116451/11/jmg-2023-109728.full.pdf; https://openaccess.sgul.ac.uk/id/eprint/116451/6/PlexinB2%20proof%20paper.pdf; 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-2023-109728 SGUL Authors: Mansour, Sahar

الاتاحة: https://openaccess.sgul.ac.uk/id/eprint/116451/
https://openaccess.sgul.ac.uk/id/eprint/116451/11/jmg-2023-109728.full.pdf
https://openaccess.sgul.ac.uk/id/eprint/116451/6/PlexinB2%20proof%20paper.pdf
https://doi.org/10.1136/jmg-2023-109728

المؤلفون: Inglehearn, CF, Yahya, S, Smith, CEL, Poulter, JA, Ali, M, Toomes, C, Ellingford, J, Black, GC, Arno, G, Webster, AR

وصف الملف: text

Relation: https://eprints.whiterose.ac.uk/195820/1/Response%20to%20Mustafi%20and%20Chao.docx; https://eprints.whiterose.ac.uk/195820/3/Response%20to%20Mustafi%20and%20Chao.pdf; 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

الاتاحة: https://eprints.whiterose.ac.uk/195820/
https://eprints.whiterose.ac.uk/195820/1/Response%20to%20Mustafi%20and%20Chao.docx
https://eprints.whiterose.ac.uk/195820/3/Response%20to%20Mustafi%20and%20Chao.pdf

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

Relation: https://eprints.whiterose.ac.uk/190501/3/PIIS0161642022005656.pdf; 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

الاتاحة: https://eprints.whiterose.ac.uk/190501/
https://eprints.whiterose.ac.uk/190501/3/PIIS0161642022005656.pdf

المؤلفون: Taylor, RL, Soriano, CS, Williams, S, Dzulova, D, Ashworth, J, Hall, G, Gale, T, Lloyd, IC, Inglehearn, CF, Toomes, C, Douzgou, S, Black, GC

وصف الملف: text

Relation: https://eprints.whiterose.ac.uk/195822/1/Bi-allelic%20mutation%20of%20CTNNB1%20causes%20a%20severe%20form%20of%20syndromic%20microphthalmia,%20persistent%20foetal%20vasculature%20and%20vitreoreti.pdf; Taylor, RL, Soriano, CS, Williams, S et al. (9 more authors) (2022) Bi-allelic mutation of CTNNB1 causes a severe form of syndromic microphthalmia, persistent foetal vasculature and vitreoretinal dysplasia. Orphanet Journal of Rare Diseases, 17. 110. ISSN 1750-1172

الاتاحة: https://eprints.whiterose.ac.uk/195822/
https://eprints.whiterose.ac.uk/195822/1/Bi-allelic%20mutation%20of%20CTNNB1%20causes%20a%20severe%20form%20of%20syndromic%20microphthalmia,%20persistent%20foetal%20vasculature%20and%20vitreoreti.pdf

المؤلفون: Black GC, Sergouniotis P, Sodi A, Leroy BP, Van Cauwenbergh C, Liskova P, Grønskov K, Klett A, Kohl S, Taurina G, Sukys M, Haer-Wigman L, Nowomiejska K, Marques JP, Leroux D, Cremers FPM, De Baere E, Dollfus H, ERN_EYE Study Group, Suppiej, Agnese, Parmeggiani, Francesco

المساهمون: Black, Gc, Sergouniotis, P, Sodi, A, Leroy, Bp, Van Cauwenbergh, C, Liskova, P, Grønskov, K, Klett, A, Kohl, S, Taurina, G, Sukys, M, Haer-Wigman, L, Nowomiejska, K, Marques, Jp, Leroux, D, Cremers, Fpm, De Baere, E, Dollfus, H, ERN_EYE Study, Group, Suppiej, Agnese, Parmeggiani, Francesco

مصطلحات موضوعية: ERN-EYE, Genetic and genomic testing, Position statement, Rare eye diseases

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/33743793; info:eu-repo/semantics/altIdentifier/wos/WOS:000631539300005; volume:16; issue:1; firstpage:142; lastpage:149; numberofpages:8; journal:ORPHANET JOURNAL OF RARE DISEASES; info:eu-repo/grantAgreement/EC/H2020/739534; http://hdl.handle.net/11392/2455701; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85103229807; https://ojrd.biomedcentral.com/articles/10.1186/s13023-021-01756-x

الاتاحة: http://hdl.handle.net/11392/2455701
https://doi.org/10.1186/s13023-021-01756-x
https://ojrd.biomedcentral.com/articles/10.1186/s13023-021-01756-x

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

Relation: https://ora.ox.ac.uk/objects/uuid:6c7b167b-17a4-4ac8-8efa-db8b7d0f340f; https://doi.org/10.1016/j.ophtha.2019.03.013

الاتاحة: https://doi.org/10.1016/j.ophtha.2019.03.013
https://ora.ox.ac.uk/objects/uuid:6c7b167b-17a4-4ac8-8efa-db8b7d0f340f

المؤلفون: Black, GC, Sergouniotis, P, Sodi, A, Leroy, BP, Van Cauwenbergh, C, Liskova, P, Grønskov, K, Klett, A, Kohl, S, Taurina, G, Sukys, M, Haer-Wigman, L, Nowomiejska, K, Marques, JP, Leroux, D, Cremers, FPM, De Baere, E, Dollfus, H

المصدر: Orphanet Journal of Rare Diseases , 16 , Article 142. (2021)

مصطلحات موضوعية: Genetic and genomic testing, Rare eye diseases, ERN-EYE, Position statement

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10129343/1/The%20need%20for%20widely%20available%20genomic%20testing%20in%20rare%20eye%20diseases%20an%20ERN-EYE%20position%20statement.pdf; https://discovery.ucl.ac.uk/id/eprint/10129343/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10129343/1/The%20need%20for%20widely%20available%20genomic%20testing%20in%20rare%20eye%20diseases%20an%20ERN-EYE%20position%20statement.pdf
https://discovery.ucl.ac.uk/id/eprint/10129343/

المؤلفون: McDermott, JH, Molina-Ramírez, LP, Bruce, IA, Mahaveer, A, Turner, M, Miele, G, Body, R, Mahood, R, Ulph, F, MacLeod, R, Harvey, K, Booth, N, Demain, LAM, Wilson, P, Black, GC, Morton, CC, Newman, WG

المصدر: Sage

وصف الملف: application/pdf

Relation: Trends in Hearing; https://hdl.handle.net/1721.1/136461

الاتاحة: https://hdl.handle.net/1721.1/136461

المؤلفون: Liu, J, Sadeh, TT, Lippiat, JD, Thakker, RV, Black, GC, Manson, F

وصف الملف: text

Relation: https://eprints.whiterose.ac.uk/168664/7/J%20Applied%20Social%20Pyschol%20-%202022%20-%20Weller%20-%20Self%E2%80%90affirmation%20reduces%20uncertainty%20aversion%20for%20potential%20gains.pdf; Liu, J, Sadeh, TT, Lippiat, JD orcid.org/0000-0003-3748-7345 et al. (3 more authors) (2021) Small molecules restore the function of mutant CLC5 associated with Dent disease. Journal of Cellular and Molecular Medicine, 25 (2). pp. 1319-1322. ISSN 1582-1838

الاتاحة: https://eprints.whiterose.ac.uk/168664/
https://eprints.whiterose.ac.uk/168664/7/J%20Applied%20Social%20Pyschol%20-%202022%20-%20Weller%20-%20Self%E2%80%90affirmation%20reduces%20uncertainty%20aversion%20for%20potential%20gains.pdf

المؤلفون: Sergouniotis, Panagiotis I., Maxime, Emmanuel, Leroux, Dorothée, Olry, Annie, Thompson, Rachel, Rath, Ana, Robinson, Peter N., Dollfus, HélèneAshworth JL, Audo I, Balciuniene VJ, Banin E, Black GC, Böhringer D, Boon CJF, Bremond-Gignac D, Calvas P, Castela G, Dagnelie G, Dollfus H, Downes SM, Fasolo A, Fasser C, Gelzinis A, Goetz K, Hamann S, Héon E, Iarossi G, Kawasaki A, Keegan D, Kessel L, Khan K, Klett A, Köhler S, Leroux D, Leroy BP, Lisch W, Liskova P, Lorenz B, Maggi R, Maxime E, Meunier I, Mohand-Said S, Nowomiejska K, Perdomo Y, Petzold A, Preising M, Robinson PN, Scholl HPN, Sergouniotis PI, Sodi A, Stingl K, Studer F, Suppiej A, Thompson R, Touitou V, Traboulsi E, Trumpaitis J, Tuft SJ, Vaclavik V, Valeina S, Van Cauwenbergh C, Verloes A, Vighetto A, Wheeler R, Wheeler-Schilling T, Yu-Wai-Man P, Zobor D, Zrenner E.

المساهمون: Sergouniotis, Panagiotis I., Maxime, Emmanuel, Leroux, Dorothée, Olry, Annie, Thompson, Rachel, Rath, Ana, Robinson, Peter N., Dollfus, Hélèneashworth, Jl, Audo, I, Balciuniene, Vj, Banin, E, Black, Gc, Böhringer, D, Boon, Cjf, Bremond-Gignac, D, Calvas, P, Castela, G, Dagnelie, G, Dollfus, H, Downes, Sm, Fasolo, A, Fasser, C, Gelzinis, A, Goetz, K, Hamann, S, Héon, E, Iarossi, G, Kawasaki, A, Keegan, D, Kessel, L, Khan, K, Klett, A, Köhler, S, Leroux, D, Leroy, Bp, Lisch, W, Liskova, P, Lorenz, B, Maggi, R, Maxime, E, Meunier, I, Mohand-Said, S, Nowomiejska, K, Perdomo, Y, Petzold, A, Preising, M, Robinson, Pn, Scholl, Hpn, Sergouniotis, Pi, Sodi, A, Stingl, K, Studer, F, Suppiej, A, Thompson, R, Touitou, V, Traboulsi, E, Trumpaitis, J, Tuft, Sj, Vaclavik, V, Valeina, S, Van Cauwenbergh, C, Verloes, A, Vighetto, A, Wheeler, R, Wheeler-Schilling, T, Yu-Wai-Man, P, Zobor, D, Zrenner, E.

مصطلحات موضوعية: Evidence-based precision medicine, Rare eye disease, Human phenotype ontology, Orphanet rare disease ontology

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/30626441; info:eu-repo/semantics/altIdentifier/wos/WOS:000455361900003; volume:14; issue:1; firstpage:8-1; lastpage:8-5; numberofpages:5; journal:ORPHANET JOURNAL OF RARE DISEASES; http://hdl.handle.net/11392/2400086; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85059797765; https://ojrd.biomedcentral.com/articles/10.1186/s13023-018-0980-6

الاتاحة: http://hdl.handle.net/11392/2400086
https://doi.org/10.1186/s13023-018-0980-6
https://ojrd.biomedcentral.com/articles/10.1186/s13023-018-0980-6

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

Relation: https://discovery.ucl.ac.uk/id/eprint/10112269/1/1-s2.0-S0002929720303220-main.pdf; https://discovery.ucl.ac.uk/id/eprint/10112269/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10112269/1/1-s2.0-S0002929720303220-main.pdf
https://discovery.ucl.ac.uk/id/eprint/10112269/

المؤلفون: Low, S, Mohamed, R, Davidson, A, Papadopoulos, M, Grassi, P, Webster, AR, Black, GC, Foster, PJ, Garway-Heath, DF, Bloom, PA

المصدر: Eye , 34 pp. 577-583. (2020)

مصطلحات موضوعية: Hereditary eye disease, Quality of life

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10082215/1/Garway-Heath%20Eye%20Final-%20MANUSCRIPT%20FINALMAY%202019.pdf; https://discovery.ucl.ac.uk/id/eprint/10082215/7/Garway-Heath%20Figure%201.pdf; https://discovery.ucl.ac.uk/id/eprint/10082215/12/Garway-Heath%20Figure%202.pdf; https://discovery.ucl.ac.uk/id/eprint/10082215/17/Garway-Heath%20Figure%203-FINAL.pdf; https://discovery.ucl.ac.uk/id/eprint/10082215/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10082215/1/Garway-Heath%20Eye%20Final-%20MANUSCRIPT%20FINALMAY%202019.pdf
https://discovery.ucl.ac.uk/id/eprint/10082215/7/Garway-Heath%20Figure%201.pdf
https://discovery.ucl.ac.uk/id/eprint/10082215/12/Garway-Heath%20Figure%202.pdf
https://discovery.ucl.ac.uk/id/eprint/10082215/17/Garway-Heath%20Figure%203-FINAL.pdf
https://discovery.ucl.ac.uk/id/eprint/10082215/

المؤلفون: Liu, Y, Chen, S, Zühlke, L, Babu-Narayan, SV, Black, GC, Choy, Mun-Kit, Li, N, Keavney, BD

وصف الملف: text

Relation: https://e-space.mmu.ac.uk/632793/; https://bmccardiovascdisord.biomedcentral.com/articles/10.1186/s12872-020-01781-x

الاتاحة: https://e-space.mmu.ac.uk/632793/1/Global%20prevalence%20of%20congenital%20heart%20disease%20in%20school-age%20children%20a%20meta-analysis%20and%20systematic%20review.pdf

المؤلفون: Wei, W, Tuna, S, Keogh, MJ, Smith, KR, Aitman, TJ, Beales, PL, Bennett, DL, Gale, DP, Bitner-Glindzicz, MAK, Black, GC, Brennan, P, Elliott, P, Flinter, FA, Floto, RA, Houlden, H, Irving, M, Koziell, A, Maher, ER, Markus, HS, Morrell, NW, Newman, WG, Roberts, I, Sayer, JA, Smith, KGC, Taylor, JC, Watkins, H, Webster, AR, Wilkie, AOM, Williamson, C, Diseases, NIHR BioResource–Rare, Pilot, 100,000 Genomes Project–Rare Diseases, Ashford, S, Penkett, CJ, Stirrups, KE, Rendon, A, Ouwehand, WH, Bradley, JR, Raymond, FL, Caulfield, M, Turro, E, Chinnery, PF

Relation: https://ora.ox.ac.uk/objects/uuid:8c4c93aa-8c16-456b-8346-d05af30b4b1b; https://doi.org/10.1126/science.aau6520

الاتاحة: https://doi.org/10.1126/science.aau6520
https://ora.ox.ac.uk/objects/uuid:8c4c93aa-8c16-456b-8346-d05af30b4b1b

المؤلفون: Sergouniotis, PI, Maxime, E, Leroux, D, Olry, A, Thompson, R, Rath, A, Robinson, PN, Dollfus, H, Ashworth, JL, Audo, I, Balciuniene, VJ, Banin, E, Black, GC, Boehringer, D, Boon, CJF, Bremond-Gignac, D, Calvas, P, Castela, G, Dagnelie, G, Downes, SM, Fasolo, A, Fasser, C, Gelzinis, A, Goetz, K, Hamann, S, Heon, E, Iarossi, G, Kawasaki, A, Keegan, D, Kessel, L, Khan, K, Klett, A, Koehler, S, Leroy, BP, Lisch, W, Liskova, P, Lorenz, B, Maggi, R, Meunier, I, Mohand-Said, S, Nowomiejska, K, Perdomo, Y, Petzold, A, Preising, M, Scholl, HPN, Sodi, A, Stingl, K, Studer, F, Suppiej, A, Touitou, V, Traboulsi, E, Trumpaitis, J, Tuft, SJ, Vaclavik, V, Valeina, S, Van Cauwenbergh, C, Verloes, A, Vighetto, A, Wheeler, R, Wheeler-Schilling, T, Yu-Wai-Man, P, Zobor, D, Zrenner, E

المصدر: Orphanet Journal of Rare Diseases , 14 , Article 8. (2019)

مصطلحات موضوعية: Evidence-based precision medicine, Rare eye disease, Human phenotype ontology, Orphanet rare disease ontology

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10085217/1/An%20ontological%20foundation%20for%20ocular%20phenotypes%20and%20rare%20eye%20diseases.pdf; https://discovery.ucl.ac.uk/id/eprint/10085217/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10085217/1/An%20ontological%20foundation%20for%20ocular%20phenotypes%20and%20rare%20eye%20diseases.pdf
https://discovery.ucl.ac.uk/id/eprint/10085217/

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, UKIRDC

المصدر: Ophthalmology , 126 (10) pp. 1410-1421. (2019)

مصطلحات موضوعية: early onset macular drusen age-related macular degeneration, complement factor-H, CFH,FHL-1

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10072455/1/Taylor_1-s2.0-S0161642018331713-main.pdf; https://discovery.ucl.ac.uk/id/eprint/10072455/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10072455/1/Taylor_1-s2.0-S0161642018331713-main.pdf
https://discovery.ucl.ac.uk/id/eprint/10072455/

المؤلفون: Liu, Y, Chen, S, Zühlke, L, Black, GC, Choy, Mun-Kit, Li, N, Keavney, BD

وصف الملف: text

Relation: https://e-space.mmu.ac.uk/632794/; https://academic.oup.com/ije/article/48/2/455/5345120

الاتاحة: https://e-space.mmu.ac.uk/632794/1/Global%20birth%20prevalence%20of%20congenital%20heart%20defects%201970%E2%80%932017%20updated%20systematic%20review%20and%20meta-analysis%20of%20260%20studies.pdf

المؤلفون: Xue, K, Jolly, JK, Barnard, AR, Rudenko, A, Salvetti, AP, Patricio, MI, Edwards, TL, Groppe, M, Orlans, HO, Tolmachova, T, Black, GC, Webster, AR, Lotery, AJ, Holder, GE, Downes, SM, Seabra, MC, MacLaren, RE

المصدر: Nature Medicine , 24 pp. 1507-1512. (2018)

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10120074/1/116296_4_art_file_868254_pcr7xq.pdf; https://discovery.ucl.ac.uk/id/eprint/10120074/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10120074/1/116296_4_art_file_868254_pcr7xq.pdf
https://discovery.ucl.ac.uk/id/eprint/10120074/

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=core_ac_uk__::e648b1ddfe054c1b1657fdd744e16b62

المؤلفون: Pontikos, N, Yu, J, Moghul, I, Withington, L, Blanco-Kelly, F, Vulliamy, T, Wong, TL, Murphy, C, Cipriani, V, Fiorentino, A, Arno, G, Greene, D, Jacobsen, JO, Clark, T, Gregory, DS, Nemeth, A, Halford, S, Inglehearn, CF, Downes, S, Black, GC, Webster, AR, Hardcastle, AJ, UKIRDC, ., Plagnol, V

المصدر: Bioinformatics , 33 (15) pp. 2421-2423. (2017)

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/1547359/1/Cipriani_Phenopolis_proofs.pdf; https://discovery.ucl.ac.uk/id/eprint/1547359/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/1547359/1/Cipriani_Phenopolis_proofs.pdf
https://discovery.ucl.ac.uk/id/eprint/1547359/