Kolexia
Albuisson Juliette
Génétique médicale
Centre Georges-François Leclerc
Dijon, France
106 Activités
281 Followers

Scientifique
Digital
Production scientifique
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Expertise
Sujets de recherche
{{person.topmesh1.name}} Maladie de la valve aortique bicuspide Syndrome d'Ehlers-Danlos Prédisposition génétique à une maladie Ehlers-Danlos Syndrome, Type IV Anévrysme Pseudoxanthome élastique Anévrysme de l'aorte Dysplasie fibromusculaire Tumeurs du sein

Industries

AstraZeneca
10 collaboration(s)
Dernière en 2023
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Dernières activités

DeepHRD-LR is an AI-based powerful and cost-effective method to detect GIS in ovarian cancer samples
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
DNA methylation suggesting the extension of the clinical spectrum of the SETD2-related disorders to a syndromic multiple tumor phenotype
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
Identification of the first homozygous intragenic deletion in the YY1AP1 gene in a consanguineous family: New insights into the phenotypic variability associated with Grange syndrome.
American journal of medical genetics. Part A   12 septembre 2023
Advancing precision oncology through systematic germline and tumor genetic analysis: The oncogenetic point of view on findings from a prospective multicenter clinical trial of 666 patients.
Cancer medicine   11 septembre 2023
Novel Association of the NOTCH Pathway Regulator MIB1 Gene With the Development of Bicuspid Aortic Valve.
JAMA cardiology   11 août 2023
Input of PRS313 for breast cancer risk stratification in patients with atypical breast lesion
Abstracts from the 55th European Society of Human Genetics (ESHG) Conference   01 mai 2023
Cardiovascular and Connective Tissue Disorder features in FLNA-related PVNH patients: progress towards a refined delineation of this syndrome
Abstracts from the 55th European Society of Human Genetics (ESHG) Conference   01 mai 2023
Clinical Utility of Genomic Tests Evaluating Homologous Recombination Repair Deficiency (HRD) for Treatment Decisions in Early and Metastatic Breast Cancer.
Cancers   18 février 2023
The "extreme phenotype approach" applied to male breast cancer allows the identification of rare variants of ATR as potential breast cancer susceptibility alleles.
Oncotarget   07 février 2023
Association and performance of polygenic risk scores for breast cancer among French women presenting or not a familial predisposition to the disease.
European journal of cancer (Oxford, England : 1990)   13 novembre 2022