Stephane E Castel
Overview
Explore the profile of Stephane E Castel including associated specialties, affiliations and a list of published articles.
Author names and details appear as published. Due to indexing inconsistencies, multiple individuals may share a name, and a single author may have variations. MedLuna displays this data as publicly available, without modification or verification
Snapshot
Snapshot
Articles
28
Citations
2497
Followers
0
Related Specialties
Top 10 Co-Authors
Top 10 Co-Authors
Published In
Published In
Affiliations
Affiliations
Soon will be listed here.
Recent Articles
1.
LeBaron von Baeyer S, Crocker R, Rakotoarivony R, Ranaivoarisoa J, Spiral G, Pascart T, et al.
Cell
. 2024 Sep;
187(20):5483-5489.
PMID: 39303717
Sharing genetic and other study results with the communities who participate in research falls under benefit-sharing and capacity-building initiatives that underpin a more equitable biomedical research relationship. Yet, which results...
2.
Hamid I, Raveloson S, Spiral G, Ravelonjanahary S, Raharivololona B, Randria J, et al.
HGG Adv
. 2024 Aug;
5(4):100343.
PMID: 39169618
The majority of human genomic research studies have been conducted in European-ancestry cohorts, reducing the likelihood of detecting potentially novel and globally impactful findings. Here, we present mid-pass whole-genome sequencing...
3.
Pascart T, Wasik K, Preda C, Chune V, Torterat J, Prudhomme N, et al.
Lancet Glob Health
. 2024 Mar;
12(4):e685-e696.
PMID: 38485432
Background: Gout is the most common cause of inflammatory arthritis worldwide, particularly in Pacific regions. We aimed to establish the prevalence of gout and hyperuricaemia in French Polynesia, their associations...
4.
Ehsan N, Kotis B, Castel S, Song E, Mancuso N, Mohammadi P
Nat Commun
. 2024 Jan;
15(1):522.
PMID: 38225224
Expression Quantitative Trait Loci (eQTLs) are critical to understanding the mechanisms underlying disease-associated genomic loci. Nearly all protein-coding genes in the human genome have been associated with one or more...
5.
Martorella M, Kasela S, Garcia-Flores R, Gokden A, Castel S, Lappalainen T
BMC Genomics
. 2023 Dec;
24(1):790.
PMID: 38114913
Transcriptome studies disentangle functional mechanisms of gene expression regulation and may elucidate the underlying biology of disease processes. However, the types of tissues currently collected typically assay a single post-mortem...
6.
Einson J, Glinos D, Boerwinkle E, Castaldi P, Darbar D, de Andrade M, et al.
Genetics
. 2023 Jun;
224(4).
PMID: 37348055
Exonic variants present some of the strongest links between genotype and phenotype. However, these variants can have significant inter-individual pathogenicity differences, known as variable penetrance. In this study, we propose...
7.
Einson J, Glinos D, Boerwinkle E, Castaldi P, Darbar D, de Andrade M, et al.
bioRxiv
. 2023 Feb;
PMID: 36778406
Exonic variants present some of the strongest links between genotype and phenotype. However, these variants can have significant inter-individual pathogenicity differences, known as variable penetrance. In this study, we propose...
8.
Emde A, Phipps-Green A, Cadzow M, Gallagher C, Major T, Merriman M, et al.
BMC Genomics
. 2021 Nov;
22(1):666.
PMID: 34719381
Background: Historically, geneticists have relied on genotyping arrays and imputation to study human genetic variation. However, an underrepresentation of diverse populations has resulted in arrays that poorly capture global genetic...
9.
de Goede O, Nachun D, Ferraro N, Gloudemans M, Rao A, Smail C, et al.
Cell
. 2021 Apr;
184(10):2633-2648.e19.
PMID: 33864768
Long non-coding RNA (lncRNA) genes have well-established and important impacts on molecular and cellular functions. However, among the thousands of lncRNA genes, it is still a major challenge to identify...
10.
Kim-Hellmuth S, Aguet F, Oliva M, Munoz-Aguirre M, Kasela S, Wucher V, et al.
Science
. 2020 Sep;
369(6509).
PMID: 32913075
The Genotype-Tissue Expression (GTEx) project has identified expression and splicing quantitative trait loci in cis (QTLs) for the majority of genes across a wide range of human tissues. However, the...