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

Amelogenesis Imperfecta; Genes, Proteins, and Pathways

Autor: Claire E. L. Smith, James A. Poulter, Agne Antanaviciute, Jennifer Kirkham, Steven J. Brookes, Chris F. Inglehearn, Alan J. Mighell

Publikováno v: Frontiers in Physiology, Vol 8 (2017)

Amelogenesis imperfecta (AI) is the name given to a heterogeneous group of conditions characterized by inherited developmental enamel defects. AI enamel is abnormally thin, soft, fragile, pitted and/or badly discolored, with poor function and aesthet

Externí odkaz: https://doaj.org/article/3507c36431f64b82b87af660f68bfb9a

Spectrum of pathogenic variants and founder effects in amelogenesis imperfecta associated with MMP20

Autor: Alan J. Mighell, Claire E. L. Smith, Suhaila Al-Bahlani, Mary J. O'Connell, Francesca Soldani, Peter F. Day, James A. Poulter, Gina Murillo, Georgios Nikolopoulos, Ian R. Berry, Sarah A. Harris, Teresa Lamb, Chris F. Inglehearn, Catriona J. Brown, Sandra Silva

Publikováno v: Human Mutation. 42:567-576

Amelogenesis imperfecta (AI) describes a heterogeneous group of developmental enamel defects that typically have Mendelian inheritance. Exome sequencing of ten families with recessive hypomaturation AI revealed 4 novel and 1 known variants in the mat

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f680d04a4e5ba4cb47c08762dbb805ad
https://doi.org/10.1002/humu.24187

Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa

Autor: Michel Michaelides, Michael E. Cheetham, Marco Aben, Alison J. Hardcastle, Hannie Kremer, Daniele Ottaviani, Stefan Mundlos, Graeme C.M. Black, Susan M Downes, Robert K. Koenekoop, Julio C. Corral-Serrano, Jordi Corominas, Gavin Arno, Andrew R. Webster, Claire E. L. Smith, Uirá Souto Melo, Carlo Rivolta, Suzanne E. de Bruijn, Chris F. Inglehearn, Raj Ramesar, L. Ingeborgh van den Born, Susanne Roosing, Christian Gilissen, Nikolas Pontikos, Musa M. Mhlanga, Jacquie Greenberg, F. Lucy Raymond, Frans P.M. Cremers, Alessia Fiorentino, Timo W. F. Mulders, Stephanie Fanucchi, Silvia Albert, Simon Mead, Lisa Roberts, Michalis Georgiou, George Rebello, Carel B. Hoyng

Publikováno v: American Journal of Human Genetics, 107, 5, pp. 802-814
American Journal of Human Genetics, 107, 802-814
American Journal of Human Genetics
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP

© 2020 The Authors. This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/)
The cause of autosomal-dominant retinitis pigmentosa (adRP), which leads to loss of vision and blindness, was investigated

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::31c6ad6470966b5d2207a3a4973f86a2
https://hdl.handle.net/2066/227412

Drug and siRNA screens identify ROCK2 as a therapeutic target for ciliopathies

Autor: Basudha Basu, Sushma Nagaraja Grellscheid, Subaashini Natarajan, Colin A. Johnson, Rachel Trowbridge, Sunayna Best, Richard Foster, Claire E. L. Smith, Alice V.R. Lake, Jacquelyn Bond, Thomas Stevenson

Primary cilia are microtubule-based organelles that act as cellular antennae to mediate vertebrate development and growth factor signalling. Defects in primary cilia result in a group of inherited developmental conditions known as ciliopathies. Cilio

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::53edd59740aaf855afe893762b638608
https://doi.org/10.1101/2020.11.26.393801