Accès ouvert
2025
article
OpenAlex
Sinead Mary McGlacken-Byrne, Ignacio del Valle, Theodoros A. Xenakis, Jenifer P. Suntharalingham et autres
Abstract Context Turner syndrome (TS) is the most common genetic cause of premature (primary) ovarian insufficiency (POI). Human fetal 45,X ovaries demonstrate marked apoptosis by 15 to 20 weeks post conception (wpc), likely partly driven by X-chromosome haploinsufficiency. However, the genomic drivers …
in, gb
(code pays fourni par la source)
Accès ouvert
2025
article
OpenAlex
Sinead Mary McGlacken-Byrne, Ignacio del Valle, Theodoros A. Xenakis, Ian C. Simcock et autres
The complex genetic mechanisms underlying human ovary development can give rise to clinical phenotypes if disrupted, such as Primary (or Premature) Ovarian Insufficiency and Differences of Sex Development. We combine single-nuclei RNA sequencing, bulk RNA sequencing, and micro-focus computed tomography to elucidate …
in, gb
(code pays fourni par la source)
Accès ouvert
2025
article
OpenAlex
Federica Buonocore, Jenifer P. Suntharalingham, Olumide Kayode Ogunbiyi, Aragorn Jones et autres
The influence of sex chromosomes and sex hormones on early human brain development is poorly understood. We therefore undertook transcriptomic analysis of 46,XY and 46,XX human brain cortex samples (n = 64) at four different time points between 7.5 and 17 weeks …
in, gb
(code pays fourni par la source)
Accès ouvert
2025
preprint
OpenAlex
Oscar Enrique Torres Montaguth, Sarah Buddle, Leysa Forrest, Tony Brooks et autres
Abstract Hybridization capture approaches can significantly increase the sensitivity of metagenomics. However, their implementation with Oxford Nanopore Technologies (ONT) sequencing has been limited due to the lack of dedicated workflows and the need for an extra ligation-based library preparation step. We developed …
ca, gb
(code pays fourni par la source)
2024
conference-abstract
OpenAlex
Sinead Mary McGlacken-Byrne, Valle Ignacio Del, Theodoros A. Xenakis, Ian C. Simcock et autres
Accès ouvert
2024
article
OpenAlex
Sarah Buddle, Leysa Forrest, Naomi Akinsuyi, Luz Marina Martin Bernal et autres
BACKGROUND: Metagenomics is a powerful approach for the detection of unknown and novel pathogens. Workflows based on Illumina short-read sequencing are becoming established in diagnostic laboratories. However, high sequencing depth requirements, long turnaround times, and limited sensitivity hinder broader adoption. We investigated …
gb, au, ca
(code pays fourni par la source)
Accès ouvert
2024
preprint
OpenAlex
Sarah Buddle, Leysa Forrest, Naomi Akinsuyi, Luz Marina Martin Bernal et autres
Abstract Background Metagenomics is a powerful approach for the detection of unknown and novel pathogens. Workflows based on Illumina short-read sequencing are becoming established in diagnostic laboratories. However, barriers to broader take-up include the need for high sequencing depths, long turnaround times, …
gb, ca, au
(code pays fourni par la source)
Accès ouvert
2024
preprint
OpenAlex
Federica Buonocore, Jenifer P. Suntharalingham, Olumide Kayode Ogunbiyi, Aragorn Jones et autres
Abstract The influence of sex chromosomes and sex hormones on early human brain development is poorly understood. We therefore undertook transcriptomic analysis of 46,XY and 46,XX human brain cortex samples (n=64) at four different time points between 7.5 and 17 weeks post …
gb
(code pays fourni par la source)
Accès ouvert
2023
conference-abstract
OpenAlex
Vignesh Jayarajan, Giuseppe Naso, Tony Brooks, Waseem Qasim et autres
gb
(code pays fourni par la source)
Accès ouvert
2015
article
OpenAlex
Julianne Rose Brown, Sofia Morfopoulou, Jonathan Hubb, Warren Emmett et autres
BACKGROUND: An 18-month-old boy developed encephalopathy, for which extensive investigation failed to identify an etiology, 6 weeks after stem cell transplant. To exclude a potential infectious cause, we performed high-throughput RNA sequencing on brain biopsy. METHODS: RNA-Seq was performed on an Illumina …
gb
(code pays fourni par la source)
2009
dissertation
OpenAlex
Tony Brooks
The purpose of this study was to examine the role of parent involvement in relation to the influence on student achievement within a school community. In addition, this study worked towards gaining an understanding of the parent's role in the school community. …
2004
article
OpenAlex
Sarah C. Webb, Anthony Attwood, Tony Brooks, Tom C. Freeman et autres
us, gb
(code pays fourni par la source)