Zobrazeno 1 - 10
of 165
pro vyhledávání: '"F. Lucy Raymond"'
Autor:
Nicholas Donnelly, Adam Cunningham, Sergio Marco Salas, Matthew Bracher-Smith, Samuel Chawner, Jan Stochl, Tamsin Ford, F. Lucy Raymond, Valentina Escott-Price, Marianne B. M. van den Bree
Publikováno v:
Molecular Autism, Vol 14, Iss 1, Pp 1-13 (2023)
Abstract Background Genomic conditions can be associated with developmental delay, intellectual disability, autism spectrum disorder, and physical and mental health symptoms. They are individually rare and highly variable in presentation, which limit
Externí odkaz:
https://doaj.org/article/036c1f415aca40a8b027e201c1374247
Biallelic variants in coenzyme Q10 biosynthesis pathway genes cause a retinitis pigmentosa phenotype
Autor:
Neringa Jurkute, Francesca Cancellieri, Lisa Pohl, Catherina H. Z. Li, Robert A. Heaton, Janine Reurink, James Bellingham, Mathieu Quinodoz, Georgia Yioti, Maria Stefaniotou, Marianna Weener, Theresia Zuleger, Tobias B. Haack, Katarina Stingl, Genomics England Research Consortium, Carel B. Hoyng, Omar A. Mahroo, Iain Hargreaves, F. Lucy Raymond, Michel Michaelides, Carlo Rivolta, Susanne Kohl, Susanne Roosing, Andrew R. Webster, Gavin Arno
Publikováno v:
npj Genomic Medicine, Vol 7, Iss 1, Pp 1-12 (2022)
Abstract The aim of this study was to investigate coenzyme Q10 (CoQ10) biosynthesis pathway defects in inherited retinal dystrophy. Individuals affected by inherited retinal dystrophy (IRD) underwent exome or genome sequencing for molecular diagnosis
Externí odkaz:
https://doaj.org/article/ae76adbc0da54571bc1728c69c317feb
Autor:
Jeanne Wolstencroft, Ramya Srinivasan, Jeremy Hall, Marianne B. M. van denBree, Michael J. Owen, IMAGINE Consortium, F. Lucy Raymond, David Skuse
Publikováno v:
JCPP Advances, Vol 3, Iss 1, Pp n/a-n/a (2023)
Abstract Background Many children with an intellectual or developmental disability (IDD) have associated autism spectrum disorders (ASD), as well as an increased risk of mental health difficulties. In a cohort with IDD of genetic aetiology, we tested
Externí odkaz:
https://doaj.org/article/22c0613c74aa4d488355fd2b72dc3390
Autor:
Hong Joo Kim, Payam Mohassel, Sandra Donkervoort, Lin Guo, Kevin O’Donovan, Maura Coughlin, Xaviere Lornage, Nicola Foulds, Simon R. Hammans, A. Reghan Foley, Charlotte M. Fare, Alice F. Ford, Masashi Ogasawara, Aki Sato, Aritoshi Iida, Pinki Munot, Gautam Ambegaonkar, Rahul Phadke, Dominic G. O’Donovan, Rebecca Buchert, Mona Grimmel, Ana Töpf, Irina T. Zaharieva, Lauren Brady, Ying Hu, Thomas E. Lloyd, Andrea Klein, Maja Steinlin, Alice Kuster, Sandra Mercier, Pascale Marcorelles, Yann Péréon, Emmanuelle Fleurence, Adnan Manzur, Sarah Ennis, Rosanna Upstill-Goddard, Luca Bello, Cinzia Bertolin, Elena Pegoraro, Leonardo Salviati, Courtney E. French, Andriy Shatillo, F. Lucy Raymond, Tobias B. Haack, Susana Quijano-Roy, Johann Böhm, Isabelle Nelson, Tanya Stojkovic, Teresinha Evangelista, Volker Straub, Norma B. Romero, Jocelyn Laporte, Francesco Muntoni, Ichizo Nishino, Mark A. Tarnopolsky, James Shorter, Carsten G. Bönnemann, J. Paul Taylor
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-18 (2022)
Missense variants in RNA-binding proteins underlie many diseases. Here the authors report an oculopharyngeal muscular dystrophy caused by heterozygous frameshift mutations in HNRNPA2B1 that alter its nucleocytoplasmic transport dynamics and result in
Externí odkaz:
https://doaj.org/article/43f9513e8b2941959cf7d7957b2785b1
Autor:
Courtney E. French, Helen Dolling, Karyn Mégy, Alba Sanchis-Juan, Ajay Kumar, Isabelle Delon, Matthew Wakeling, Lucy Mallin, Shruti Agrawal, Topun Austin, Florence Walston, Soo-Mi Park, Alasdair Parker, Chinthika Piyasena, Kimberley Bradbury, Sian Ellard, David H. Rowitch, F. Lucy Raymond
Publikováno v:
HGG Advances, Vol 3, Iss 3, Pp 100113- (2022)
Summary: To facilitate early deployment of whole-genome sequencing (WGS) for severely ill children, a standardized pipeline for WGS analysis with timely turnaround and primary care pediatric uptake is needed. We developed a bioinformatics pipeline fo
Externí odkaz:
https://doaj.org/article/d0639a514d104d5591320431e35ee69b
Autor:
Stefanie C. Linden, Cameron J. Watson, Jacqueline Smith, Samuel J. R. A. Chawner, Thomas M. Lancaster, Ffion Evans, Nigel Williams, David Skuse, F. Lucy Raymond, Jeremy Hall, Michael J. Owen, David E. J. Linden, LeeAnne Green-Snyder, Wendy K. Chung, Anne M. Maillard, Sébastien Jacquemont, Marianne B. M. van den Bree
Publikováno v:
Translational Psychiatry, Vol 11, Iss 1, Pp 1-10 (2021)
Abstract Copy number variants are amongst the most highly penetrant risk factors for psychopathology and neurodevelopmental deficits, but little information about the detailed clinical phenotype associated with particular variants is available. We pr
Externí odkaz:
https://doaj.org/article/54da75375fc94e1e9cfee638da8b6e65
Autor:
Alba Sanchis-Juan, Jonathan Stephens, Courtney E. French, Nicholas Gleadall, Karyn Mégy, Christopher Penkett, Olga Shamardina, Kathleen Stirrups, Isabelle Delon, Eleanor Dewhurst, Helen Dolling, Marie Erwood, Detelina Grozeva, Luca Stefanucci, Gavin Arno, Andrew R. Webster, Trevor Cole, Topun Austin, Ricardo Garcia Branco, Willem H. Ouwehand, F. Lucy Raymond, Keren J. Carss
Publikováno v:
Genome Medicine, Vol 10, Iss 1, Pp 1-10 (2018)
Abstract Background Studies have shown that complex structural variants (cxSVs) contribute to human genomic variation and can cause Mendelian disease. We aimed to identify cxSVs relevant to Mendelian disease using short-read whole-genome sequencing (
Externí odkaz:
https://doaj.org/article/e563cd1c639d49d89247155d92c3c084
Autor:
Alba Sanchis‐Juan, Marcia A. Hasenahuer, James A. Baker, Amy McTague, Katy Barwick, Manju A. Kurian, Sofia T. Duarte, NIHR BioResource, Keren J. Carss, Janet Thornton, F. Lucy Raymond
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 7, Pp n/a-n/a (2020)
Abstract Background Cys‐loop receptors control neuronal excitability in the brain and their dysfunction results in numerous neurological disorders. Recently, six missense variants in GABRA2, a member of this family, have been associated with early
Externí odkaz:
https://doaj.org/article/b03f0f3a6a5b4694bf213a6a423a3f69
Autor:
Stefanie C. Linden, Cameron J. Watson, Jacqueline Smith, Samuel J. R. A. Chawner, Thomas M. Lancaster, Ffion Evans, Nigel Williams, David Skuse, F. Lucy Raymond, Jeremy Hall, Michael J. Owen, David E. J. Linden, LeeAnne Green-Snyder, Wendy K. Chung, Anne M. Maillard, Sébastien Jacquemont, Marianne B. M. van den Bree
Publikováno v:
Translational Psychiatry, Vol 11, Iss 1, Pp 1-1 (2021)
Externí odkaz:
https://doaj.org/article/70c8d703a2c54c389267bed84f61ee90
Autor:
Alba Sanchis-Juan, Christina Bitsara, Kay Yi Low, Keren J. Carss, Courtney E. French, Olivera Spasic-Boskovic, Joanna Jarvis, Michael Field, F. Lucy Raymond, Detelina Grozeva
Publikováno v:
Frontiers in Genetics, Vol 10 (2019)
Families with multiple male children with intellectual disability (ID) are usually suspected of having disease due to a X-linked mode of inheritance and genetic studies focus on analysis of segregating variants in X-linked genes. However, the genetic
Externí odkaz:
https://doaj.org/article/e8ced9a60f5941d6b7c6c46fd17370e1