Valerie Benoit
Gosselies, WAL, Belgium
Last Updated: 09/26/2026
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Found 39 publications
Insights in the underlying pathophysiology of brain malformations associated with VRK1-related syndrome derived from fetal neuropathology.
Journal: Journal of neuropathology and experimental neurology
Published: March 06, 2025
Biallelic loss-of-function variants in ZNF142 are associated with a robust DNA methylation signature affecting a limited number of genomic loci.
Journal: European journal of human genetics : EJHG
Published: March 04, 2025
Genetic insights into fetal kidney development: Variants in HNF1A and PKHD1 genes.
Journal: Gene
Published: February 03, 2024
Clinical and Neurophysiologic Phenotypes in Neonates With BRAT1 Encephalopathy.
Journal: Neurology
Published: June 25, 2022
Case report: Thirty-year progression of an EMPF1 encephalopathy due to defective mitochondrial and peroxisomal fission caused by a novel de novo heterozygous DNM1L variant.
Journal: Frontiers in neurology
Published: May 06, 2022
Case Report: Inactivating PTH/PTHrP Signaling Disorder Type 1 Presenting With PTH Resistance.
Journal: Frontiers in endocrinology
Published: April 25, 2022
Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder.
Journal: Clinical genetics
Published: April 14, 2022
Effects of Positive Psychology Interventions on the Well-Being of Young Children: A Systematic Literature Review.
Journal: International journal of environmental research and public health
Published: October 08, 2021
Role of Callous and Unemotional (CU) Traits on the Development of Youth with Behavioral Disorders: A Systematic Review.
Journal: International journal of environmental research and public health
Published: March 18, 2021
Frequency of Participation in External Quality Assessment Programs Focused on Rare Diseases: Belgian Guidelines for Human Genetics Centers.
Journal: JMIR medical informatics
Published: March 09, 2021
Antenatal diagnosis of CHARGE syndrome: Prenatal ultrasound findings and crucial role of fetal dysmorphic signs. About a series of 10 cases and review of literature.
Journal: European journal of medical genetics
Published: October 14, 2020
Clinical delineation, sex differences, and genotype-phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: October 09, 2020
Last Updated: 09/26/2026