المؤلفون: Dueñas Rey, A, del Pozo Valero, M, Bouckaert, M, Wood, KA, Van den Broeck, F, Varela, MD, Thomas, HB, Van Heetvelde, M, De Bruyne, M, Van de Sompele, S, Bauwens, M, Lenaerts, H, Mahieu, Q, Josifova, D, Rivolta, C, O’Keefe, RT, Ellingford, J, Webster, AR, Arno, G, Ayuso, C, De Zaeytijd, J, Leroy, BP, De Baere, E, Coppieters, F

المصدر: Genome Medicine , 16 (1) , Article 7. (2024)

مصطلحات موضوعية: 5’untranslated region (5’UTR), Upstream open reading frame (uORF), Non-coding variation, Whole genome sequencing (WGS), Whole exome sequencing (WES), In silico prioritization, Variant interpretation, Functional studies, Inherited retinal disease (IRD)

وصف الملف: application/pdf

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10186119/1/s13073-023-01277-1.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10186119Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10186119/1/s13073-023-01277-1.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10186119Test/

المؤلفون: Tao, X, Dutson, J, Zeng, C, Asker, C, Luong, S, Reza, A, Hao, B, Zhang, Z, Ellingford, J, Bonilla, RS, Fenwick, O, Bilotti, E, Hofmann, F, Thwaites, M, Assender, HE

العلاقة: Advanced Materials Technologies; https://qmro.qmul.ac.uk/xmlui/handle/123456789/94518Test

الإتاحة: https://doi.org/10.1002/admt.202301958Test
https://qmro.qmul.ac.uk/xmlui/handle/123456789/94518Test

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

الإتاحة: https://eprints.whiterose.ac.uk/195820Test/
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

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

الإتاحة: https://eprints.whiterose.ac.uk/190501Test/
https://eprints.whiterose.ac.uk/190501/3/PIIS0161642022005656.pdfTest

المؤلفون: Ellingford, J. M., Ahn, J. W., Bagnall, R. D., Baralle, D., Barton, S., Campbell, C., Downes, K., Ellard, S., Duff-Farrier, C., FitzPatrick, D. R., Greally, J. M., Ingles, J., Krishnan, N., Lord, J., Martin, H. C., Newman, W. G., O'Donnell-Luria, A., Ramsden, S. C., Rehm, H. L., Richardson, E., Singer-Berk, M., Taylor, J. C., Williams, M., Wood, J. C., Wright, C. F., Harrison, S. M., Whiffin, N.

مصطلحات موضوعية: Genetic Variation, Genome, Genome-Wide Association Study, Open Reading Frames, Regulatory Sequences, Nucleic Acid, Gene regulation, Non-coding variation, Variant interpretation

العلاقة: https://genomemedicine.biomedcentral.com/articles/10.1186/s13073-022-01073-3Test; Genome Med. 2022 Jul 19;14(1):73. doi:10.1186/s13073-022-01073-3.; Genome medicine; PMC9295495; https://hdl.handle.net/11287/622684Test

الإتاحة: https://doi.org/10.1186/s13073-022-01073-3Test
https://hdl.handle.net/11287/622684Test

المؤلفون: Yahya, S., Smith, C. E. L., Poulter, J. A., McKibbin, M., Arno, G., Ellingford, J., Kämpjärvi, K., Khan, M. I., Cremers, F. P. M., Hardcastle, A. J., Castle, B., Steel, D. H. W., Webster, A. R., Black, G. C., El-Asrag, M. E., Ali, M., Toomes, C., Inglehearn, C. F.

مصطلحات موضوعية: Amd, Crx, Macular disease, Retinal disease, Sult2a1, Tprx1

العلاقة: https://linkinghub.elsevier.com/retrieve/pii/S0161-6420Test(22)00565-6; Ophthalmology. 2022 Aug 5:S0161-6420(22)00565-6. doi:10.1016/j.ophtha.2022.07.023.; https://rde.dspace-express.com/handle/11287/622604Test; Ophthalmology

الإتاحة: https://doi.org/10.1016Test/j.ophtha.2022.07.023
https://rde.dspace-express.com/handle/11287/622604Test

المؤلفون: Vig A., Poulter J. A., Ottaviani D., Tavares E., Toropova K., Tracewska A. M., Mollica A., Kang J., Kehelwathugoda O., Paton T., Maynes J. T., Wheway G., Arno G., Ambrose J. C., Arumugam P., Baple E. L., Bleda M., Boardman-Pretty F., Boissiere J. M., Boustred C. R., Brittain H., Caulfield M. J., Chan G. C., Craig C. E. H., Daugherty L. C., de Burca A., Devereau A., Elgar G., Foulger R. E., Fowler T., Furio-Tari P., Hackett J. M., Halai D., Hamblin A., Henderson S., Holman J. E., Hubbard T. J. P., Ibanez K., Jackson R., Jones L. J., Kasperaviciute D., Kayikci M., Lahnstein L., Lawson K., Leigh S. E. A., Leong I. U. S., Lopez F. J., Maleady-Crowe F., Mason J., McDonagh E. M., Moutsianas L., Mueller M., Murugaesu N., Need A. C., Odhams C. A., Patch C., Perez-Gil D., Polychronopoulos D., Pullinger J., Rahim T., Rendon A., Riesgo-Ferreiro P., Rogers T., Ryten M., Savage K., Sawant K., Scott R. H., Siddiq A., Sieghart A., Smedley D., Smith K. R., Sosinsky A., Spooner W., Stevens H. E., Stuckey A., Sultana R., Thomas E. R. A., Thompson S. R., Tregidgo C., Tucci A., Walsh E., Watters S. A., Welland M. J., Williams E., Witkowska K., Wood S. M., Zarowiecki M., Khan K. N., McKibbin M., Toomes C., Ali M., Di Scipio M., Li S., Ellingford J., Black G., Webster A., Rydzanicz M., Stawinski P., Ploski R., Vincent A., Cheetham M. E., Inglehearn C. F., Roberts A., Heon E.

المساهمون: Vig, A., Poulter, J. A., Ottaviani, D., Tavares, E., Toropova, K., Tracewska, A. M., Mollica, A., Kang, J., Kehelwathugoda, O., Paton, T., Maynes, J. T., Wheway, G., Arno, G., Ambrose, J. C., Arumugam, P., Baple, E. L., Bleda, M., Boardman-Pretty, F., Boissiere, J. M., Boustred, C. R., Brittain, H., Caulfield, M. J., Chan, G. C., Craig, C. E. H., Daugherty, L. C., de Burca, A., Devereau, A., Elgar, G., Foulger, R. E., Fowler, T., Furio-Tari, P., Hackett, J. M., Halai, D., Hamblin, A., Henderson, S., Holman, J. E., Hubbard, T. J. P., Ibanez, K., Jackson, R., Jones, L. J., Kasperaviciute, D., Kayikci, M., Lahnstein, L., Lawson, K., Leigh, S. E. A., Leong, I. U. S., Lopez, F. J., Maleady-Crowe, F., Mason, J., Mcdonagh, E. M., Moutsianas, L., Mueller, M., Murugaesu, N., Need, A. C., Odhams, C. A., Patch, C., Perez-Gil, D., Polychronopoulos, D., Pullinger, J., Rahim, T., Rendon, A., Riesgo-Ferreiro, P., Rogers, T., Ryten, M., Savage, K., Sawant, K., Scott, R. H., Siddiq, A., Sieghart, A., Smedley, D., Smith, K. R., Sosinsky, A., Spooner, W., Stevens, H. E., Stuckey, A., Sultana, R., Thomas, E. R. A., Thompson, S. R., Tregidgo, C., Tucci, A., Walsh, E., Watters, S. A., Welland, M. J., Williams, E., Witkowska, K., Wood, S. M., Zarowiecki, M., Khan, K. N., Mckibbin, M., Toomes, C., Ali, M., Di Scipio, M., Li, S., Ellingford, J., Black, G., Webster, A., Rydzanicz, M., Stawinski, P., Ploski, R., Vincent, A.

مصطلحات موضوعية: DYNC2H1, inherited retinal disease (IRD), intraflagellar transport (IFT), primary cilia, retinitis pigmentosa (RP)

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/32753734; info:eu-repo/semantics/altIdentifier/wos/WOS:000555733600001; volume:22; issue:12; firstpage:2041; lastpage:2051; numberofpages:11; journal:GENETICS IN MEDICINE; https://hdl.handle.net/11577/3367769Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85088931786

الإتاحة: https://doi.org/10.1038/s41436-020-0915-1Test
https://hdl.handle.net/11577/3367769Test

المؤلفون: Houweling A. C., Beaman G. M., Postma A. V., Blair Gainous T., Lichtenbelt K. D., Brancati F., Lopes F. M., Van Der Made I., Polstra A. M., Robinson M. L., Wright K. D., Ellingford J. M., Jackson A. R., Overwater E., Genesio R., Romano S., Camerota L., D'Angelo E., Meijers-Heijboer E. J., Christoffels V. M., McHugh K. M., Black B. L., Newman W. G., Woolf A. S., Creemers E. E.

المساهمون: Houweling, A. C., Beaman, G. M., Postma, A. V., Blair Gainous, T., Lichtenbelt, K. D., Brancati, F., Lopes, F. M., Van Der Made, I., Polstra, A. M., Robinson, M. L., Wright, K. D., Ellingford, J. M., Jackson, A. R., Overwater, E., Genesio, R., Romano, S., Camerota, L., D'Angelo, E., Meijers-Heijboer, E. J., Christoffels, V. M., Mchugh, K. M., Black, B. L., Newman, W. G., Woolf, A. S., Creemers, E. E.

مصطلحات موضوعية: Genetic disease, Molecular genetic, Muscle Biology, Urology

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/31513549; info:eu-repo/semantics/altIdentifier/wos/WOS:000500567600031; volume:129; issue:12; firstpage:5374; lastpage:5380; numberofpages:7; journal:THE JOURNAL OF CLINICAL INVESTIGATION; http://hdl.handle.net/11564/723456Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85075961425; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6877301Test/

الإتاحة: https://doi.org/10.1172/JCI128545Test
http://hdl.handle.net/11564/723456Test
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6877301Test/

المؤلفون: Vig, A, Poulter, JA, Ottaviani, D, Tavares, E, Toropova, K, Tracewska, AM, Mollica, A, Kang, J, Kehelwathugoda, O, Paton, T, Maynes, JT, Wheway, G, Arno, G, Genomics England Research Consortium, ., Khan, KN, McKibbin, M, Toomes, C, Ali, M, Di Scipio, M, Li, S, Ellingford, J, Black, G, Webster, A, Rydzanicz, M, Stawiński, P, Płoski, R, Vincent, A, Cheetham, ME, Inglehearn, CF, Roberts, A, Heon, E

المصدر: Genetics in Medicine (2020) (In press).

مصطلحات موضوعية: DYNC2H1, inherited retinal disease (IRD), intraflagellar transport (IFT), primary cilia, retinitis pigmentosa (RP)

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10107446/1/Cheetham_DYNC2H1%20hypomorphic%20or%20retina-predominant%20variants%20cause%20nonsyndromic%20retinal%20degeneration_AOP.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10107446Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10107446/1/Cheetham_DYNC2H1%20hypomorphic%20or%20retina-predominant%20variants%20cause%20nonsyndromic%20retinal%20degeneration_AOP.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10107446Test/

المؤلفون: Belot, A, Rice, GI, Omarjee, SO, Rouchon, Q, Smith, EMD, Moreews, M, Tusseau, M, Frachette, C, Bournhonesque, R, Thielens, N, Gaboriaud, C, Rouvet, I, Chopin, E, Hoshino, A, Latour, S, Ranchin, B, Cimaz, R, Romagnani, P, Malcus, C, Fabien, N, Sarda, MN, Kassai, B, Lega, JC, Decramer, S, Abou-Jaoude, P, Bruce, IN, Simonet, T, Bardel, C, Rollat-Farnier, PA, Viel, S, Reumaux, H, O'Sullivan, J, Walzer, T, Mathieu, AL, Marenne, G, Ludwig, T, Genin, E, Ellingford, J, Bader-Meunier, B, Briggs, TA, Beresford, MW, Crow, YJ, Campion, D, Dartigues, JF, Deleuze, JF, Lambert, JC, Redon, R, Allain-Launay, E, Bouayed, K, Burtey, S, Despert, V, Fain, O, Fischbach, M, Hachulla, E, Hatchuel, Y, Kleinmann, JF, Kone-Paut, I, Lemelle, I, Maurier, F, Meinzer, U, Melki, I, Piram, M, Sibilia, J, Weill, O, Al-Abadi, E, Armon, K, Bailey, K, Brennan, M, Ciurtin, C, Gardner-Medwin, J, Haslam, K, Hawley, D, Leahy, A, Leone, V, Mewar, D, Moots, R, Pilkington, C, Ramanan, A, Ratcliffe, A, Sridhar, A, Riley, P, Satyapal, R, Sen, E, Wilkinson, N, Wood, F

المصدر: The Lancet Rheumatology , 2 (2) e99-e109. (2020)

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10094867/3/Ciurtin_Belot%20et%20al.,%202020.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10094867Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10094867/3/Ciurtin_Belot%20et%20al.,%202020.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10094867Test/