Zobrazeno 1 - 10
of 50
pro vyhledávání: '"Ruth Y Eberhardt"'
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:
Daniel J Rigden, Qingping Xu, Yuanyuan Chang, Ruth Y Eberhardt, Robert D Finn, Neil D Rawlings
Publikováno v:
F1000Research, Vol 2 (2013)
We report the crystal structure solution of the Intracellular Protease Inhibitor (IPI) protein from Bacillus subtilis, which has been reported to be an inhibitor of the intracellular subtilisin Isp1 from the same organism. The structure of IPI is a v
Externí odkaz:
https://doaj.org/article/02c05be0a31e4a3c9482a0ff912c3a51
Publikováno v:
PLoS ONE, Vol 8, Iss 2, p e57848 (2013)
We have identified a new protein domain, which we have named the SHOCT domain (Short C-terminal domain). This domain is widespread in bacteria with over a thousand examples. But we found it is missing from the most commonly studied model organisms, d
Externí odkaz:
https://doaj.org/article/403b300192d24cb6904cd6b01e6604ca
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:
Emilie M. Wigdor, Kaitlin E. Samocha, Ruth Y. Eberhardt, V. Kartik Chundru, Helen V. Firth, Caroline F. Wright, Matthew E. Hurles, Hilary C. Martin
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, we inves
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0c96c62bd29688eef22e62c5d003f9c9
https://doi.org/10.1101/2023.04.20.23288860
https://doi.org/10.1101/2023.04.20.23288860
Autor:
Teresa N. Sparks, Mary E. Norton, Fionnuala Mone, Lyn S. Chitty, Matthew E. Hurles, J. L. Giordano, Luming Sun, Ronald J. Wapner, Dominic J. McMullan, Eamonn R. Maher, Ruth Y. Eberhardt, Jenny Lord, Tessa Homfray, Esther Dempsey, Mark D. Kilby
Publikováno v:
Ultrasound Obstet Gynecol
OBJECTIVE To determine the incremental yield of exome sequencing (ES) over chromosomal microarray analysis (CMA) or karyotyping in prenatally diagnosed non-immune hydrops fetalis (NIHF). METHODS A prospective cohort study (comprising an extended grou
Autor:
Ronald J. Wapner, DB Goldstein, Ruth Y. Eberhardt, Eamonn R. Maher, Kilby, Dominic J. McMullan, JL Giordano, Vimla Aggarwal, Rhiannon Mellis, LS Chitty, Matthew E. Hurles, Susan Hamilton
Publikováno v:
BJOG
OBJECTIVE To evaluate the utility of prenatal exome sequencing (ES) for isolated increased nuchal translucency (NT) and to investigate factors that increase diagnostic yield. DESIGN Retrospective analysis of data from two prospective cohort studies.
Autor:
Caroline F. Wright, Patrick Campbell, Ruth Y. Eberhardt, Stuart Aitken, Daniel Perrett, Simon Brent, Petr Danecek, Eugene J. Gardner, V. Kartik Chundru, Sarah J. Lindsay, Katrina Andrews, Juliet Hampstead, Joanna Kaplanis, Kaitlin E. Samocha, Anna Middleton, Julia Foreman, Rachel J. Hobson, Michael J. Parker, Hilary C. Martin, David R. FitzPatrick, Matthew E. Hurles, Helen V. Firth
BackgroundPediatric disorders include a range of highly genetically heterogeneous conditions that are amenable to genome-wide diagnostic approaches. Finding a molecular diagnosis is challenging but can have profound lifelong benefits.MethodsThe Decip
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::177be3acb06dd6b577adbe8be124026e
https://doi.org/10.1101/2022.07.25.22278008
https://doi.org/10.1101/2022.07.25.22278008
Autor:
Lyn S. Chitty, Ronald J. Wapner, Matthew E. Hurles, Dominic J. McMullan, Jenny Lord, Mark D. Kilby, Ruth Y. Eberhardt, Fionnuala Mone, R. K. Morris, Eamonn R. Maher, J. L. Giordano
Publikováno v:
Ultrasound in Obstetrics & Gynecology. 57:43-51
OBJECTIVE To determine the incremental yield of antenatal exome sequencing (ES) over chromosomal microarray analysis (CMA) or conventional karyotyping in prenatally diagnosed congenital heart disease (CHD). METHODS A prospective cohort study of 197 t