المؤلفون: El-Asrag, M.E., Sergouniotis, P.I., McKibbin, M., Plagnol, V., Sheridan, E., Waseem, N., Abdelhamed, Z., McKeefry, Declan J., Van Schil, K., Poulter, J.A., UK Inherited Retinal Disease Consortium, Johnson, C.A., Carr, I.M., Leroy, B.P., Baere, E. de, Inglehearn, C.F., Webster, A.R., Toomes, C.l., Ali, M.

مصطلحات موضوعية: Retinal dystrophy, Macular involvement, Central visual loss, Autophagy Regulator DRAM2, Biallelic mutations, Adult base sequence, Exome, Genetics, Great Britain, Homozygote, Humans, Immunohistochemistry, Macular degeneration, Pathology, Membrane proteins, Molecular sequence data mutation, Pakistan, Ethnology, Retinal dystrophies, Sequence Aaalysis, DNA

الإتاحة: http://hdl.handle.net/10454/10247Test

المؤلفون: Smith, C.E.L., Laugel-Haushalter, V., Hany, U., Best, S., Taylor, R.L., Poulter, J.A., Wortmann, S.B., Feichtinger, R.G., Mayr, J.A., Al Bahlani, S., Nikolopoulos, G., Rigby, A., Black, G.C., Watson, C.M., Mansour, S., Inglehearn, C.F., Mighell, A.J., Bloch-Zupan, A.

وصف الملف: text

العلاقة: https://eprints.whiterose.ac.uk/212916/1/jmg-2023-109728.full.pdfTest; Smith, C.E.L. orcid.org/0000-0001-8320-5105 , Laugel-Haushalter, V., Hany, U. orcid.org/0000-0002-4486-1625 et al. (15 more authors) (2024) Biallelic variants in Plexin B2 (PLXNB2) cause amelogenesis imperfecta, hearing loss and intellectual disability. Journal of Medical Genetics. ISSN 0022-2593

الإتاحة: https://eprints.whiterose.ac.uk/212916Test/
https://eprints.whiterose.ac.uk/212916/1/jmg-2023-109728.full.pdfTest

المؤلفون: Hany, U., Watson, C.M., Liu, L., Nikolopoulos, G., Smith, C.E.L., Poulter, J.A., Brown, C.J., Patel, A., Rodd, H.D., Balmer, R., Harfoush, A., Al-Jawad, M., Inglehearn, C.F., Mighell, A.J.

وصف الملف: text

العلاقة: https://eprints.whiterose.ac.uk/207087/1/hany-et-al-2023-novel-ameloblastin-variants-contrasting-amelogenesis-imperfecta-phenotypes.pdfTest; Hany, U. orcid.org/0000-0002-4486-1625 , Watson, C.M. orcid.org/0000-0003-2371-1844 , Liu, L. et al. (11 more authors) (2024) Novel ameloblastin variants, contrasting amelogenesis imperfecta phenotypes. Journal of Dental Research, 103 (1). pp. 22-30. ISSN 0022-0345

الإتاحة: https://eprints.whiterose.ac.uk/207087Test/
https://eprints.whiterose.ac.uk/207087/1/hany-et-al-2023-novel-ameloblastin-variants-contrasting-amelogenesis-imperfecta-phenotypes.pdfTest

المؤلفون: Panneman, D.M., Hitti-Malin, R.J., Holtes, L.K., de Bruijn, S.E., Reurink, J., Boonen, E.G.M., Khan, M.I., Ali, M., Andreasson, 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, C.F., Karali, M., Kjellstrom, U., Koenekoop, R., de Koning, B., Leroy, B.P., McKibbin, M., Meunier, I., Nikopoulos, K., Nishiguchi, K.M., Poulter, J.A., Rivolta, C., de la Rua, E.R., Saunders, P., Simonelli, F., Tatour, Y., Testa, F., Thiadens, A.A.H.J., Toomes, C., Tracewska, A.M., Tran, H.V., Ushida, H., Vaclavik, V., Verhoeven, V.J.M., van de Vorst, M., Gilissen, C., Hoischen, A., Cremers, F.P.M., Roosing, S.

المصدر: Panneman , D M , Hitti-Malin , R J , Holtes , L K , de Bruijn , S E , Reurink , J , Boonen , E G M , Khan , M I , Ali , M , Andreasson , 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 , C F , Karali , M , Kjellstrom , ....

مصطلحات موضوعية: inherited retinal diseases, targeted gene sequencing, cost-effective, high-throughput, smMIPs, RETINAL DYSTROPHY, MUTATIONS, VARIANTS

العلاقة: https://cris.maastrichtuniversity.nl/en/publications/f8ce5e41-6786-4d77-9c3d-5752efcc5b90Test

الإتاحة: https://doi.org/10.3389/fcell.2023.1112270Test
https://cris.maastrichtuniversity.nl/en/publications/f8ce5e41-6786-4d77-9c3d-5752efcc5b90Test

المؤلفون: Hany, U., Watson, C.M., Liu, L., Smith, C.E.L., Harfoush, A., Poulter, J.A., Nikolopoulos, G., Balmer, R., Brown, C.J., Patel, A., Simmonds, J., Charlton, R., Acosta de Camargo, M.G., Rodd, H.D., Jafri, H., Antanaviciute, A., Moffat, M., Al-Jawad, M., Inglehearn, C.F., Mighell, A.J.

وصف الملف: text

العلاقة: https://eprints.whiterose.ac.uk/207220/1/jmg-2023-109510.full.pdfTest; Hany, U. orcid.org/0000-0002-4486-1625 , Watson, C.M. orcid.org/0000-0003-2371-1844 , Liu, L. et al. (17 more authors) (2023) Heterozygous COL17A1 variants are a frequent cause of amelogenesis imperfecta. Journal of Medical Genetics. ISSN 0022-2593

الإتاحة: https://eprints.whiterose.ac.uk/207220Test/
https://eprints.whiterose.ac.uk/207220/1/jmg-2023-109510.full.pdfTest

المؤلفون: Hany, U., Watson, C.M., Liu, L., Nikolopoulos, G., Smith, C.E.L., Poulter, J.A., Brown, C.J., Patel, A., Rodd, H.D., Balmer, R., Harfoush, A., Al-Jawad, M., Inglehearn, C.F., Mighell, A.J.

المساهمون: Wellcome Trust, Rosetrees Trust

المصدر: Journal of Dental Research ; volume 103, issue 1, page 22-30 ; ISSN 0022-0345 1544-0591

مصطلحات موضوعية: General Dentistry

الإتاحة: https://doi.org/10.1177/00220345231203694Test

المؤلفون: Van de Sompele, S., Small, K.W., Cicekdal, M.B., Soriano, V.L., D'haene, E., Shaya, F.S., Agemy, S., Van der Snickt, T., Rey, A.D., Rosseel, T., Van Heetvelde, M., Vergult, S., Balikova, I., Bergen, A.A., Boon, CJF, De Zaeytijd, J., Inglehearn, C.F., Kousal, B., Leroy, B.P., Rivolta, C., Vaclavik, V., van den Ende, J., van Schooneveld, M.J., Gómez-Skarmeta, J.L., Tena, J.J., Martinez-Morales, J.R., Liskova, P., Vleminckx, K., De Baere, E.

المصدر: American journal of human genetics, vol. 109, no. 11, pp. 2029-2048

مصطلحات موضوعية: Adult, Animals, Humans, Pedigree, Tomography, Optical Coherence, Corneal Dystrophies, Hereditary, Retina/metabolism, Xenopus laevis/genetics, IRX1, North Carolina macular dystrophy, NCMD, PRDM13, UMI-4C, cis-regulatory elements, CREs, enhanceropathy, human retina, multi-omics, non-coding single-nucleotide variants, SNVs, whole-genome sequencing

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/36243009; info:eu-repo/semantics/altIdentifier/eissn/1537-6605; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_0187457C35DF4; https://serval.unil.ch/notice/serval:BIB_0187457C35DFTest; urn:issn:0002-9297; https://serval.unil.ch/resource/serval:BIB_0187457C35DF.P001/REF.pdfTest; http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_0187457C35DF4Test

الإتاحة: https://doi.org/10.1016/j.ajhg.2022.09.013Test
https://serval.unil.ch/notice/serval:BIB_0187457C35DFTest
https://serval.unil.ch/resource/serval:BIB_0187457C35DF.P001/REF.pdfTest
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_0187457C35DF4Test

المؤلفون: Mahmood, T., El-Asrag, M.E., Poulter, J.A., Cardno, A.G., Tomlinson, A., Ahmed, S., Al-Amri, A., Nazari, J., Neill, J., Chamali, R.S., Kiwan, N., Ghuloum, S., Alhaj, H.A., Randerson Moor, J., Khan, S., Al-Amin, H., Johnson, C.A., Woodruff, P., Wilkinson, I.D., Ali, M., Clapcote, S.J., Inglehearn, C.F.

وصف الملف: text

العلاقة: https://eprints.whiterose.ac.uk/174590/1/A%20Recessively%20Inherited%20Risk%20Locus%20on%20Chromosome%2013q22-31%20Conferring%20Susceptibility%20to%20Schizophrenia.pdfTest; Mahmood, T., El-Asrag, M.E., Poulter, J.A. et al. (19 more authors) (2021) A recessively inherited risk locus on chromosome 13q22-31 conferring susceptibility to schizophrenia. Schizophrenia Bulletin, 47 (3). pp. 796-802. ISSN 0586-7614

الإتاحة: https://eprints.whiterose.ac.uk/174590Test/
https://eprints.whiterose.ac.uk/174590/1/A%20Recessively%20Inherited%20Risk%20Locus%20on%20Chromosome%2013q22-31%20Conferring%20Susceptibility%20to%20Schizophrenia.pdfTest

المؤلفون: de Bruijn, S.E., Fiorentino, A, Ottaviani, D., Fanucchi, S., Melo, U.S., Corral-Serrano, J.C., 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, F.L., Corominas, J., Smith, C.E.L., Kremer, H., Downes, S., Black, G.C., Webster, A.R., Inglehearn, C.F., van den Born, L.I., Koenekoop, R.K., Michaelides, M., Ramesar, R.S., Hoyng, C.B., Mundlos, S., Mhlanga, M.M., Cremers, F.P.M., Cheetham, M.E., Roosing, S., Hardcastle, A.J.

المساهمون: Jacquie Greenberg, Lisa Roberts: University of Cape Town/MRC Genomic and Precision Medicine Research Unit, Division of Human Genetics, Department of Pathology, Institute of Infectious Disease and Molecular Medicine, Faculty of Health Sciences, University of Cape Town, Cape Town, 7935, South Africa

مصطلحات موضوعية: GDPD, Hi-C, RP17, Dominant retinitis pigmentosa, Ectopic expression, Photoreceptor precursors cells, Retinal organoids, Stem cells, Structural variants, Whole-genome sequencing, Topologically associated domains

وصف الملف: application/pdf

العلاقة: 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. Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa. Am J Hum Genet. 2020 Nov 5;107(5):802-814. doi:10.1016/j.ajhg.2020.09.002. Epub 2020 Oct 5.; American Journal of Human Genetics; https://pubmed.ncbi.nlm.nih.gov/33022222Test/; https://hdl.handle.net/11288/595628Test

الإتاحة: https://doi.org/10.1016/j.ajhg.2020.09.002Test
https://pubmed.ncbi.nlm.nih.gov/33022222Test/
https://hdl.handle.net/11288/595628Test

المؤلفون: Smith, C.E.L., Whitehouse, L.L.E., Poulter, J.A., Wilkinson Hewitt, L., Nadat, F., Jackson, B.R., Manfield, I.W., Edwards, T.A., Rodd, H.D., Inglehearn, C.F., Mighell, A.J.

وصف الملف: text

العلاقة: https://eprints.whiterose.ac.uk/162040/1/ddaa041.pdfTest; Smith, C.E.L., Whitehouse, L.L.E., Poulter, J.A. et al. (8 more authors) (2020) A missense variant in specificity protein 6 (SP6) is associated with amelogenesis imperfecta. Human Molecular Genetics, 29 (9). pp. 1417-1425. ISSN 0964-6906

الإتاحة: https://eprints.whiterose.ac.uk/162040Test/
https://eprints.whiterose.ac.uk/162040/1/ddaa041.pdfTest