Zobrazeno 1 - 10
of 276
pro vyhledávání: '"Matthew E, Hurles"'
Autor:
Adam Pavlinek, Dwaipayan Adhya, Alex Tsompanidis, Varun Warrier, Anthony C. Vernon, Madeline Lancaster, Jonathan Mill, Deepak P. Srivastava, Simon Baron-Cohen, Carrie Allison, Rosie Holt, Paula Smith, Tracey Parsons, Joanna Davis, Matthew Hassall, Daniel H. Geschwind, Alexander EP. Heazell, Alice Franklin, Rosie Bamford, Jonathan Davies, Matthew E. Hurles, Hilary C. Martin, Mahmoud Mousa, David H. Rowitch, Kathy K. Niakan, Graham J. Burton, Fateneh Ghafari, Lucia Dutan-Polit, Madeline A. Lancaster, Ilaria Chiaradia, Tal Biron-Shental, Lidia V. Gabis
Publikováno v:
Biological Psychiatry Global Open Science, Vol 4, Iss 5, Pp 100343- (2024)
Sex differences are widespread during neurodevelopment and play a role in neuropsychiatric conditions such as autism, which is more prevalent in males than females. In humans, males have been shown to have larger brain volumes than females with devel
Externí odkaz:
https://doaj.org/article/696dcf6345f647389e6fcc214263b982
Autor:
Emilie M. Wigdor, Kaitlin E. Samocha, Ruth Y. Eberhardt, V. Kartik Chundru, Helen V. Firth, Caroline F. Wright, Matthew E. Hurles, Hilary C. Martin
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-11 (2024)
Abstract Recent work has revealed an important role for rare, incompletely penetrant inherited coding variants in neurodevelopmental disorders (NDDs). Additionally, we have previously shown that common variants contribute to risk for rare NDDs. Here,
Externí odkaz:
https://doaj.org/article/c0f75227db5d4c79801f5124d7f09ecb
Autor:
Elizabeth J. Radford, Hong-Kee Tan, Malin H. L. Andersson, James D. Stephenson, Eugene J. Gardner, Holly Ironfield, Andrew J. Waters, Daniel Gitterman, Sarah Lindsay, Federico Abascal, Iñigo Martincorena, Anna Kolesnik-Taylor, Elise Ng-Cordell, Helen V. Firth, Kate Baker, John R. B. Perry, David J. Adams, Sebastian S. Gerety, Matthew E. Hurles
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-17 (2023)
Abstract Loss-of-function of DDX3X is a leading cause of neurodevelopmental disorders (NDD) in females. DDX3X is also a somatically mutated cancer driver gene proposed to have tumour promoting and suppressing effects. We perform saturation genome edi
Externí odkaz:
https://doaj.org/article/787606f0736b45d2b045e1283e0cd595
Autor:
Douglas M. Fowler, David J. Adams, Anna L. Gloyn, William C. Hahn, Debora S. Marks, Lara A. Muffley, James T. Neal, Frederick P. Roth, Alan F. Rubin, Lea M. Starita, Matthew E. Hurles
Publikováno v:
Genome Biology, Vol 24, Iss 1, Pp 1-12 (2023)
Abstract Sequencing has revealed hundreds of millions of human genetic variants, and continued efforts will only add to this variant avalanche. Insufficient information exists to interpret the effects of most variants, limiting opportunities for prec
Externí odkaz:
https://doaj.org/article/b9552b874a4a49a68deb254e2408b950
Autor:
Yunfeng Huang, Dora Bodnar, Chia-Yen Chen, Gabriela Sanchez-Andrade, Mark Sanderson, Biogen Biobank Team, Jun Shi, Katherine G. Meilleur, Matthew E. Hurles, Sebastian S. Gerety, Ellen A. Tsai, Heiko Runz
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-8 (2023)
Abstract Muscle strength is highly heritable and predictive for multiple adverse health outcomes including mortality. Here, we present a rare protein-coding variant association study in 340,319 individuals for hand grip strength, a proxy measure of m
Externí odkaz:
https://doaj.org/article/de6b6e551a394c89b17455966b598956
Autor:
Petr Danecek, Eugene J. Gardner, Tomas W. Fitzgerald, Giuseppe Gallone, Joanna Kaplanis, Ruth Y. Eberhardt, Caroline F. Wright, Helen V. Firth, Matthew E. Hurles
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101818- (2024)
Purpose: Structural variants such as multiexon deletions and duplications are an important cause of disease but are often overlooked in standard exome/genome sequencing analysis. We aimed to evaluate the detection of copy-number variants (CNVs) from
Externí odkaz:
https://doaj.org/article/8e0772a2bdbe41f584339b04b2c8e9ed
Autor:
Ruth Y. Eberhardt, Caroline F. Wright, David R. FitzPatrick, Matthew E. Hurles, Helen V. Firth
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100836- (2023)
Purpose: Structural mosaicism has been previously implicated in developmental disorders. We aimed to identify rare mosaic chromosomal alterations (MCAs) in probands with severe undiagnosed developmental disorders. Methods: We identified MCAs in genot
Externí odkaz:
https://doaj.org/article/07a6b0d4c20e438aab57a63b818d068e
Autor:
Alexandra Neaverson, Malin H. L. Andersson, Osama A. Arshad, Luke Foulser, Mary Goodwin-Trotman, Adam Hunter, Ben Newman, Minal Patel, Charlotte Roth, Tristan Thwaites, Helena Kilpinen, Matthew E. Hurles, Andrew Day, Sebastian S. Gerety
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 10 (2023)
Efficient and effective methods for converting human induced pluripotent stem cells into differentiated derivatives are critical for performing robust, large-scale studies of development and disease modelling, and for providing a source of cells for
Externí odkaz:
https://doaj.org/article/e475fa979c224d27a64c98a173d36582
Autor:
Stuart Aitken, Helen V. Firth, Caroline F. Wright, Matthew E. Hurles, David R. FitzPatrick, Colin A. Semple
Publikováno v:
HGG Advances, Vol 4, Iss 1, Pp 100162- (2023)
Summary: Diagnosing rare developmental disorders using genome-wide sequencing data commonly necessitates review of multiple plausible candidate variants, often using ontologies of categorical clinical terms. We show that Integrating Multiple Phenotyp
Externí odkaz:
https://doaj.org/article/02b9675f33534c6bae4aba0033a026ad
Autor:
Hilary C. Martin, Eugene J. Gardner, Kaitlin E. Samocha, Joanna Kaplanis, Nadia Akawi, Alejandro Sifrim, Ruth Y. Eberhardt, Ana Lisa Taylor Tavares, Matthew D. C. Neville, Mari E. K. Niemi, Giuseppe Gallone, Jeremy McRae, Deciphering Developmental Disorders Study, Caroline F. Wright, David R. FitzPatrick, Helen V. Firth, Matthew E. Hurles
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-13 (2021)
Developmental disorders (DDs) are more prevalent in males, thought to be due to X-linked genetic variation. Here, the authors investigate the burden of X-linked coding variants in 11,044 DD patients, showing that this contributes to ~6% of both male
Externí odkaz:
https://doaj.org/article/97934482d6eb4ef4a62a77b65cc8aafa