Identification of genetic susceptibility loci for colorectal tumors in a genome-wide meta-analysis

…, AK Aragaki, JA Baron, SI Berndt, S Bézieau… - Gastroenterology, 2013 - Elsevier
BACKGROUND & AIMS: Heritable factors contribute to the development of colorectal cancer.
Identifying the genetic loci associated with colorectal tumor formation could elucidate the …

An update on mutations of the SLC39A4 gene in acrodermatitis enteropathica

…, M Giraud, B Dréno, M Kharfi, S Bézieau - Human …, 2009 - Wiley Online Library
Acrodermatitis enteropathica (AE) is a very rare inherited recessive disease caused by severe
zinc deficiency. It typically occurs in early infancy and is characterized by periorificial and …

Genome-wide association scan identifies a colorectal cancer susceptibility locus on chromosome 8q24

…, R Sladek, A Montpetit, P Campbell, S Bezieau… - Nature …, 2007 - nature.com
Using a multistage genetic association approach comprising 7,480 affected individuals and
7,779 controls, we identified markers in chromosomal region 8q24 associated with colorectal …

Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death

…, BJ Boukens, S Bézieau, E Charpentier, S Chatel… - Nature …, 2013 - nature.com
… Reaction conditions included an initial denaturation step at 95 C for 10 min, followed by
50 cycles of denaturation at 95 C for 15 s and annealing at 60 C for 30 s. Data were analyzed …

Discovery of common and rare genetic risk variants for colorectal cancer

…, BL Banbury, JA Baron, SI Berndt, S Bézieau… - Nature …, 2019 - nature.com
To further dissect the genetic architecture of colorectal cancer (CRC), we performed whole-genome
sequencing of 1,439 cases and 720 controls, imputed discovered sequence variants …

GestaltMatcher facilitates rare disease matching using facial phenotype descriptors

…, E Krüger, S Küry, S Bézieau, A Schmidt, S Peters… - Nature …, 2022 - nature.com
… In principle, we could train GestaltMatcher’s encoder on all 1,115 different syndromes in
our … We therefore analyzed the influence of the number of syndromes on the encoder’s fine-…

Meta-analysis of new genome-wide association studies of colorectal cancer risk

…, M Hoffmeister, H Brenner, B Frank, S Bézieau, S Küry… - Human genetics, 2012 - Springer
Colorectal cancer is the second leading cause of cancer death in developed countries.
Genome-wide association studies (GWAS) have successfully identified novel susceptibility loci …

Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility

…, H Le Marec, S Chatel, M Karakachoff, S Bézieau… - Nature …, 2022 - nature.com
… We performed logistic regression on the disease status under an additive model of SNP’s
genotype. P values are two-sided and not adjusted for multiple testing. The y axis has breaks …

[PDF][PDF] Genome-wide modeling of polygenic risk score in colorectal cancer risk

…, S Castellví-Bel, S Ogino, SI Berndt, S Bézieau… - The American journal of …, 2020 - cell.com
… Our study’s large sample size likely is an important factor for the improved performance
of the LDpred approach. Further, having access to an independent cohort that has not been …

[PDF][PDF] Autosomal-recessive intellectual disability with cerebellar atrophy syndrome caused by mutation of the manganese and zinc transporter gene SLC39A8

…, JN Scott, S Bezieau, A Reis, S Uebe… - The American Journal of …, 2015 - cell.com
Manganese (Mn) and zinc (Zn) are essential divalent cations used by cells as protein cofactors;
various human studies and animal models have demonstrated the importance of Mn and …