المؤلفون: Sergouniotis, Panos, Michaud, Vincent, Lasseaux, Eulalie, Campbell, Christopher, Plaisant, Claudio, Javerzat, Sophie, Birney, Ewan, Ramsden, Simon, Black, Graeme, Arveiler, Benoit

المصدر: Sergouniotis , P , Michaud , V , Lasseaux , E , Campbell , C , Plaisant , C , Javerzat , S , Birney , E , Ramsden , S , Black , G & Arveiler , B 2023 , ' A multilayered approach to the analysis of genetic data from individuals with suspected albinism ' , Journal of Medical Genetics . https://doi.org/10.1136/jmg-2022-109088Test

مصطلحات موضوعية: albinism, nystagmus, foveal hypoplasia, genetic testing, clinical utility

العلاقة: https://research.manchester.ac.uk/en/publications/16f626ba-8eb6-4456-b8cf-6dcc49922112Test

الإتاحة: https://doi.org/10.1136/jmg-2022-109088Test
https://research.manchester.ac.uk/en/publications/16f626ba-8eb6-4456-b8cf-6dcc49922112Test

المؤلفون: Liu, Jingshu, Black, Graeme, Kimber, Susan, Sergouniotis, Panos

المصدر: Liu , J , Black , G , Kimber , S & Sergouniotis , P 2022 , ' Generation of a human induced pluripotent stem cell line carrying the TYR c.575C >A (p.Ser192Tyr) and c.1205G >A (p.Arg402Gln) variants in homozygous state using CRISPR-Cas9 genome editing ' , Stem Cell Research . https://doi.org/10.1016/j.scr.2022.102880Test

الإتاحة: https://doi.org/10.1016/j.scr.2022.102880Test
https://research.manchester.ac.uk/en/publications/9b2fb024-ff56-4d35-81e0-1b3c22256ce8Test

المؤلفون: Green, David, Lenassi, Eva, Manning, Cerys, McGaughey, David, Sharma, Vinod, Black, Graeme, Ellingford, Jamie, Sergouniotis, Panos

المصدر: Green , D , Lenassi , E , Manning , C , McGaughey , D , Sharma , V , Black , G , Ellingford , J & Sergouniotis , P 2021 , ' North Carolina macular dystrophy: phenotypic variability and computational analysis of disease-associated non-coding variants ' , Investigative Ophthalmology and Visual Science. , vol. 62 , no. 7 , pp. 16 . https://doi.org/10.1167/iovs.62.7.16Test

العلاقة: https://research.manchester.ac.uk/en/publications/acbfede1-271d-4c44-984f-463a9fae8f1dTest

الإتاحة: https://doi.org/10.1167/iovs.62.7.16Test
https://research.manchester.ac.uk/en/publications/acbfede1-271d-4c44-984f-463a9fae8f1dTest

المؤلفون: Molina Ramirez, Leslie, Lenassi, Eva, Ellingford, Jamie, Sergouniotis, Panos, Ramsden, Simon, Bruce, Iain, Black, Graeme

المصدر: Molina Ramirez , L , Lenassi , E , Ellingford , J , Sergouniotis , P , Ramsden , S , Bruce , I & Black , G 2020 , ' Establishing genotype-phenotype correlation in USH2A-related disorders to personalise audiological surveillance and rehabilitation. ' , Otology and Neurotology , vol. 41 , no. 4 , pp. 431-437 . https://doi.org/10.1097/MAO.0000000000002588Test

مصطلحات موضوعية: Hearing loss, Personalized medicine, Retinitis pigmentosa, USH2A -related disease, Usher syndrome

الإتاحة: https://doi.org/10.1097/MAO.0000000000002588Test
https://research.manchester.ac.uk/en/publications/1608849e-6cfe-43de-bf0a-7337711413f9Test

المؤلفون: Julian, Thomas, Girach, Zain, Sanderson, Eleanor, Guo, Hui, Yu, Jonathan, Cooper-Knock, Johnathan, Black, Graeme, Sergouniotis, Panos

المصدر: Julian , T , Girach , Z , Sanderson , E , Guo , H , Yu , J , Cooper-Knock , J , Black , G & Sergouniotis , P 2023 , ' Causal factors in primary open angle glaucoma: a phenome-wide Mendelian randomisation study ' , Scientific Reports .

العلاقة: https://research.manchester.ac.uk/en/publications/a8983693-539f-4a07-84a8-2d033f60b42aTest

الإتاحة: https://research.manchester.ac.uk/en/publications/a8983693-539f-4a07-84a8-2d033f60b42aTest

المؤلفون: Köhler, Sebastian, Carmody, Leigh, Vasilevsky, Nicole, Jacobsen, Julius O. B., Danis, Daniel, Gourdine, Jean-Philippe, Gargano, Michael A., Harris, Nomi, Matentzoglu, Nicolas, McMurry, Julie A., Osumi-Sutherland, David, Cipriani, Valentina, Balhoff, James P., Conlin, Tom, Blau, Hannah, Baynam, Gareth, Palmer, Richard, Gratian, Dylan, Dawkins, Hugh, Segal, Michael, Jansen, Anna, Muaz, Ahmed, Chang, Willie H., Bergerson, Jenna, Laulederkind, Stanley, Yüksel, Z., Beltran i Agulló, Sergi, Freeman, Alexandra F., Sergouniotis, Panos, Durkin, Daniel, Storm, Andrea L., Hanauer, Marc, Brudno, Michael, Bello, Susan, Sincan, Murat, Rageth, Kayli, Wheeler, Matthew T., Oegema, Renske, Lourghi, Halima, Della Rocca, Maria G., Thompson, R., Castellanos, Francisco, Priest, James, Cunningham-Rundles, Charlotte, Hegde, Ayushi, Lovering, Ruth Caroline, Hajek, Catherine, Olry, Annie, Notarangelo, Luigi, Similuk, Morgan, Zhang, Xingmin, Gómez-Andrés, David, Lochmüller, Hanns, Dollfus, Hélène, Rosenzweig, Sergio, Marwaha, Shruti, Rath, Ana, Sullivan, Kathleen, Smith, Cynthia, Milner, Joshua D., Leroux, Dorothée, Boerkoel, Cornelius, Klion, Amy, Carter, Melody C., Groza, Tudor, Smedley, Damian, Haendel, Melissa Anne, Mungall, Christopher, Robinson, Peter N., Universitat Autònoma de Barcelona

مصطلحات موضوعية: Biological Ontologies, Computational Biology, Congenital Abnormalities, Databases, Genetic, Genetic Predisposition to Disease, Genetic Variation, Humans, Internet, Knowledge Bases, Phenotype, Rare Diseases, Whole Genome Sequencing

وصف الملف: application/pdf

العلاقة: Nucleic acids research; Vol. 47 Núm. D1 (august 2019), p. D1018-D1027; https://ddd.uab.cat/record/223246Test; urn:10.1093/nar/gky1105; urn:oai:ddd.uab.cat:223246; urn:scopus_id:85059796063; urn:articleid:13624962v47nD1D1018; urn:pmid:30476213; urn:pmc-uid:6324074; urn:pmcid:PMC6324074; urn:oai:pubmedcentral.nih.gov:6324074

الإتاحة: https://ddd.uab.cat/record/223246Test

المؤلفون: Mcharg, Selina, Booth, Laura, Perveen, Rahat, Riba Garcia, Isabel, Brace, Nicole, Bayatti, Nadhim, Sergouniotis, Panos, Phillips, Alexander, Day, Anthony, Black, Graeme, Clark, Simon, Dowsey, Andrew, Unwin, Richard, Bishop, Paul

المصدر: Mcharg , S , Booth , L , Perveen , R , Riba Garcia , I , Brace , N , Bayatti , N , Sergouniotis , P , Phillips , A , Day , A , Black , G , Clark , S , Dowsey , A , Unwin , R & Bishop , P 2022 , ' Mast cell infiltration of the choroid and protease release are early events in age-related macular degeneration associated with genetic risk at both chromosome 1q32 and 10q26 ' , Proceedings of the National Academy of Sciences .

مصطلحات موضوعية: ResearchInstitutes_Networks_Beacons/mcrc, name=Manchester Cancer Research Centre

العلاقة: https://research.manchester.ac.uk/en/publications/a6e76b35-6961-47be-ba5a-74a8de9fda46Test

الإتاحة: https://research.manchester.ac.uk/en/publications/a6e76b35-6961-47be-ba5a-74a8de9fda46Test

المؤلفون: Lenassi, Eva, Carvalho, Ana, Thormann, Anja, Abrahams, Liam, Arno, Gavin, Fletcher, Tracy, Hardcastle, Claire L, Lopez, Javier, Hunt, Sarah E., Short, Patrick, Sergouniotis, Panos, Michaelides, Michel, Webster, Andrew R., Cunningham, Fiona, Ramsden, Simon, Kasperaviciute, Dalia, Fitzpatrick, David R., Black, Graeme, Ellingford, Jamie

المصدر: Lenassi , E , Carvalho , A , Thormann , A , Abrahams , L , Arno , G , Fletcher , T , Hardcastle , C L , Lopez , J , Hunt , S E , Short , P , Sergouniotis , P , Michaelides , M , Webster , A R , Cunningham , F , Ramsden , S , Kasperaviciute , D , Fitzpatrick , D R , Genomics England Research Consortium , Black , G & Ellingford , J 2022 , ' EyeG2P: an automated variant filtering approach improves efficiency of diagnostic genomic testing ....

الإتاحة: https://research.manchester.ac.uk/en/publications/6ef265b6-08af-413f-a716-06e054ee4d02Test

المؤلفون: Green, David J., Lenassi, Eva, Manning, Cerys S., McGaughey, David, Sharma, Vinod, Black, Graeme C., Ellingford, Jamie M., Sergouniotis, Panos I.

المصدر: Green , D J , Lenassi , E , Manning , C S , McGaughey , D , Sharma , V , Black , G C , Ellingford , J M & Sergouniotis , P I 2021 ' North Carolina macular dystrophy : phenotypic variability and computational analysis of disease-implicated non-coding variants ' medRxiv , medRxiv . https://doi.org/10.1101/2021.03.05.21252975Test

مصطلحات موضوعية: NCMD

الإتاحة: https://doi.org/10.1101/2021.03.05.21252975Test
https://research.manchester.ac.uk/en/publications/fa405983-bf53-4381-88c6-777c44b3b912Test
https://www.mendeley.com/catalogue/f7dce417-b7fc-3bcb-8420-a8918af38052Test/
https://www.research.manchester.ac.uk/portal/en/publications/north-carolina-macular-dystrophyTest(fa405983-bf53-4381-88c6-777c44b3b912).html