Zobrazeno 1 - 10 of 98 pro vyhledávání: '"Carmel, Toomes"'
1
Akademický článek
Targeted nanopore sequencing enables complete characterisation of structural deletions initially identified using exon‐based short‐read sequencing strategies
Autor: Benjamin McClinton, Laura A. Crinnion, Martin McKibbin, Rajarshi Mukherjee, James A. Poulter, Claire E. L. Smith, Manir Ali, Christopher M. Watson, Chris F. Inglehearn, Carmel Toomes
Publikováno v: Molecular Genetics & Genomic Medicine, Vol 11, Iss 6, Pp n/a-n/a (2023)
Abstract Background The widespread adoption of exome sequencing has greatly increased the rate of genetic diagnosis for inherited conditions. However, the detection and validation of large deletions remains challenging. While numerous bioinformatics
Externí odkaz: https://doaj.org/article/30974ac5421d42c3bd08091e0d58f9b9
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2
Akademický článek
Bi-allelic mutation of CTNNB1 causes a severe form of syndromic microphthalmia, persistent foetal vasculature and vitreoretinal dysplasia
Autor: Rachel L. Taylor, Carla Sanjuro Soriano, Simon Williams, Denisa Dzulova, Jane Ashworth, Georgina Hall, Theodora Gale, I. Christopher Lloyd, Chris F. Inglehearn, Carmel Toomes, Sofia Douzgou, Graeme C. Black
Publikováno v: Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-8 (2022)
Abstract Background Inherited vitreoretinopathies arise as a consequence of congenital retinal vascularisation abnormalities. They represent a phenotypically and genetically heterogeneous group of disorders that can have a major impact on vision. Sev
Externí odkaz: https://doaj.org/article/2729b06421b1449e9a93f464605a0f3c
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3
Akademický článek
Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis
Autor: Daan M. Panneman, Rebekkah J. Hitti-Malin, Lara K. Holtes, Suzanne E. de Bruijn, Janine Reurink, Erica G. M. Boonen, Muhammad Imran Khan, Manir Ali, Sten Andréasson, Elfride De Baere, Sandro Banfi, Miriam Bauwens, Tamar Ben-Yosef, Béatrice Bocquet, Marieke De Bruyne, Berta de la Cerda, Frauke Coppieters, Pietro Farinelli, Thomas Guignard, Chris F. Inglehearn, Marianthi Karali, Ulrika Kjellström, Robert Koenekoop, Bart de Koning, Bart P. Leroy, Martin McKibbin, Isabelle Meunier, Konstantinos Nikopoulos, Koji M. Nishiguchi, James A. Poulter, Carlo Rivolta, Enrique Rodríguez de la Rúa, Patrick Saunders, Francesca Simonelli, Yasmin Tatour, Francesco Testa, Alberta A. H. J. Thiadens, Carmel Toomes, Anna M. Tracewska, Hoai Viet Tran, Hiroaki Ushida, Veronika Vaclavik, Virginie J. M. Verhoeven, Maartje van de Vorst, Christian Gilissen, Alexander Hoischen, Frans P. M. Cremers, Susanne Roosing
Publikováno v: Frontiers in Cell and Developmental Biology, Vol 11 (2023)
Introduction: Retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA) are two groups of inherited retinal diseases (IRDs) where the rod photoreceptors degenerate followed by the cone photoreceptors of the retina. A genetic diagnosis for IRDs i
Externí odkaz: https://doaj.org/article/70773f087bee4d9ea754539e4fee1ac1
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4
Akademický článek
A multi-ethnic genome-wide association study implicates collagen matrix integrity and cell differentiation pathways in keratoconus
Autor: Alison J. Hardcastle, Petra Liskova, Yelena Bykhovskaya, Bennet J. McComish, Alice E. Davidson, Chris F. Inglehearn, Xiaohui Li, Hélène Choquet, Mahmoud Habeeb, Sionne E. M. Lucas, Srujana Sahebjada, Nikolas Pontikos, Karla E. Rojas Lopez, Anthony P. Khawaja, Manir Ali, Lubica Dudakova, Pavlina Skalicka, Bart T. H. Van Dooren, Annette J. M. Geerards, Christoph W. Haudum, Valeria Lo Faro, Abi Tenen, Mark J. Simcoe, Karina Patasova, Darioush Yarrand, Jie Yin, Salina Siddiqui, Aine Rice, Layal Abi Farraj, Yii-Der Ida Chen, Jugnoo S. Rahi, Ronald M. Krauss, Elisabeth Theusch, Jac C. Charlesworth, Loretta Szczotka-Flynn, Carmel Toomes, Magda A. Meester-Smoor, Andrea J. Richardson, Paul A. Mitchell, Kent D. Taylor, Ronald B. Melles, Anthony J. Aldave, Richard A. Mills, Ke Cao, Elsie Chan, Mark D. Daniell, Jie Jin Wang, Jerome I. Rotter, Alex W. Hewitt, Stuart MacGregor, Caroline C. W. Klaver, Wishal D. Ramdas, Jamie E. Craig, Sudha K. Iyengar, David O’Brart, Eric Jorgenson, Paul N. Baird, Yaron S. Rabinowitz, Kathryn P. Burdon, Chris J. Hammond, Stephen J. Tuft, Pirro G. Hysi
Publikováno v: Communications Biology, Vol 4, Iss 1, Pp 1-13 (2021)
Alison Hardcastle et al. report a genome-wide meta-analysis of keratoconus, a condition affecting the cornea that causes blurred vision and often leads to blindness. They identify 36 genomic regions associated with keratoconus, 31 of which are novel,
Externí odkaz: https://doaj.org/article/6eed77457b784436985e138a87c60544
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5
Late-Onset Autosomal Dominant Macular Degeneration Caused by Deletion of the CRX Gene
Autor: Samar Yahya, Claire E.L. Smith, James A. Poulter, Martin McKibbin, Gavin Arno, Jamie Ellingford, Kati Kämpjärvi, Muhammad I. Khan, Frans P.M. Cremers, Alison J. Hardcastle, Bruce Castle, David H.W. Steel, Andrew R. Webster, Graeme C. Black, Mohammed E. El-Asrag, Manir Ali, Carmel Toomes, Chris F. Inglehearn, Stuart Ingram, Rachel Taylor, Forbes Manson, Panagiotis Sergouniotis, Nikolas Pontikos, Michael Cheetham, Alessia Fiorentino, Susan Downes, Jing Yu, Stephanie Halford, Suzanne Broadgate, Veronica van Heyningen, John C. Ambrose, Prabhu Arumugam, Roel Bevers, Marta Bleda, Freya Boardman-Pretty, Christopher R. Boustred, Helen Brittain, Mark J. Caulfield, Georgia C. Chan, Greg Elgar, Tom Fowler, Adam Giess, Angela Hamblin, Shirley Henderson, Tim J.P. Hubbard, Rob Jackson, Louise J. Jones, Dalia Kasperaviciute, Melis Kayikci, Athanasios Kousathanas, Lea Lahnstein, Sarah E.A. Leigh, Ivonne U.S. Leong, Javier F. Lopez, Fiona Maleady-Crowe, Meriel McEntagart, Federico Minneci, Loukas Moutsianas, Michael Mueller, Nirupa Murugaesu, Anna C. Need, Peter O’Donovan, Chris A. Odhams, Christine Patch, Mariana Buongermino Pereira, Daniel Perez-Gil, John Pullinger, Tahrima Rahim, Augusto Rendon, Tim Rogers, Kevin Savage, Kushmita Sawant, Richard H. Scott, Afshan Siddiq, Alexander Sieghart, Samuel C. Smith, Alona Sosinsky, Alexander Stuckey, Mélanie Tanguy, Ana Lisa Taylor Tavares, Ellen R.A. Thomas, Simon R. Thompson, Arianna Tucci, Matthew J. Welland, Eleanor Williams, Katarzyna Witkowska, Suzanne M. Wood
Publikováno v: Ophthalmology, 130, 68-76
Ophthalmology, 130, 1, pp. 68-76
To characterize the phenotype observed in a case series with macular disease and determine the cause.Multicenter case series.Six families (7 patients) with sporadic or multiplex macular disease with onset at 20 to 78 years, and 1 patient with age-rel
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::507827933b913ead226b13ff8c186891
https://doi.org/10.1016/j.ophtha.2022.07.023
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7
Effective smMIPs-Based Sequencing of Maculopathy-Associated Genes in Stargardt Disease Cases and Allied Maculopathies from the UK
Autor: Benjamin Mc Clinton, Zelia Corradi, Martin McKibbin, Daan M. Panneman, Susanne Roosing, Erica G. M. Boonen, Manir Ali, Christopher M. Watson, David H. Steel, Frans P. M. Cremers, Chris F. Inglehearn, Rebekkah J. Hitti-Malin, Carmel Toomes
Publikováno v: Genes; Volume 14; Issue 1; Pages: 191
Genes, 14, 1
Genes, 14
Genes
Macular dystrophies are a group of individually rare but collectively common inherited retinal dystrophies characterised by central vision loss and loss of visual acuity. Single molecule Molecular Inversion Probes (smMIPs) have proved effective in id
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4dc625647b55b98526bd790a5acaae8e
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9
Molecular diagnoses in the congenital malformations caused by ciliopathies cohort of the 100,000 Genomes Project
Autor: Jamie M Ellingford, Jenny Carmichael, Carmel Toomes, Christopher M. Watson, Roel P J Bevers, Colin A. Johnson, James A. Poulter, Matthew Roche, Helen K. Brittain, Gabrielle Wheway, Alex Stuckey, Sunayna Best, Chris F. Inglehearn, Jenny Lord, Katarzyna Szymanska
Publikováno v: Best, S, Lord, J, Roche, M, Watson, C M, Poulter, J A, Bevers, R P J, Stuckey, A, Szymanska, K, Ellingford, J M, Carmichael, J, Brittain, H, Toomes, C, Inglehearn, C, Johnson, C A & Wheway, G 2021, ' Molecular diagnoses in the congenital malformations caused by ciliopathies cohort of the 100,000 Genomes Project ', Journal of Medical Genetics . https://doi.org/10.1136/jmedgenet-2021-108065
BackgroundPrimary ciliopathies represent a group of inherited disorders due to defects in the primary cilium, the ‘cell’s antenna’. The 100,000 Genomes Project was launched in 2012 by Genomics England (GEL), recruiting National Health Service (
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::53ae82c691b2420bcaacf19be4171770
https://doi.org/10.1136/jmedgenet-2021-108065
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10
Akademický článek
The Meckel-Gruber syndrome protein TMEM67 controls basal body positioning and epithelial branching morphogenesis in mice via the non-canonical Wnt pathway
Autor: Zakia A. Abdelhamed, Subaashini Natarajan, Gabrielle Wheway, Christopher F. Inglehearn, Carmel Toomes, Colin A. Johnson, Daniel J. Jagger
Publikováno v: Disease Models & Mechanisms, Vol 8, Iss 6, Pp 527-541 (2015)
Ciliopathies are a group of developmental disorders that manifest with multi-organ anomalies. Mutations in TMEM67 (MKS3) cause a range of human ciliopathies, including Meckel-Gruber and Joubert syndromes. In this study we describe multi-organ develop
Externí odkaz: https://doaj.org/article/c2ccea26d47b400d98e3ee479bab47c3
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