Yvan Herenger
A5045281690- Genomics and Rare Diseases
- Genomic variations and chromosomal abnormalities
- Genetics and Neurodevelopmental Disorders
- Congenital heart defects research
- Mitochondrial Function and Pathology
- Cardiomyopathy and Myosin Studies
- Metabolism and Genetic Disorders
- Epigenetics and DNA Methylation
- Neurogenetic and Muscular Disorders Research
- Genetic factors in colorectal cancer
- Connective tissue disorders research
- Genomics and Phylogenetic Studies
- Immunodeficiency and Autoimmune Disorders
- Fetal and Pediatric Neurological Disorders
- Pancreatic function and diabetes
- Sphingolipid Metabolism and Signaling
- Diet and metabolism studies
- Cancer-related gene regulation
- Ocular Disorders and Treatments
- bioluminescence and chemiluminescence research
- Genetic Neurodegenerative Diseases
- ATP Synthase and ATPases Research
- Genomics and Chromatin Dynamics
- Muscle Physiology and Disorders
- Congenital Ear and Nasal Anomalies
Sophia Genetics (Switzerland)
2023
Centre Hospitalier Universitaire de Reims
2023
Université de Reims Champagne-Ardenne
2023
Centre Hospitalier Universitaire de Tours
2018-2022
University Hospital of Zurich
2020
University of Zurich
2020
Hôpital Robert-Debré
2019
Assistance Publique – Hôpitaux de Paris
2019
Hôpital Bretonneau
2018
Université de Strasbourg
2015
Abstract Summary Structural Variations (SV) are a major source of variability in the human genome that shaped its actual structure during evolution. Moreover, many diseases caused by SV, highlighting need to accurately detect those genomic events but also annotate them and assist their biological interpretation. Therefore, we developed AnnotSV compiles functionally, regulatory clinically relevant information aims at providing annotations useful (i) interpret SV potential pathogenicity (ii)...
<h3>Background</h3> Intellectual disability (ID) is characterised by an extreme genetic heterogeneity. Several hundred genes have been associated to monogenic forms of ID, considerably complicating molecular diagnostics. Trio-exome sequencing was recently proposed as a diagnostic approach, yet remains costly for general implementation. <h3>Methods</h3> We report the alternative strategy targeted high-throughput 217 in which mutations had reported patients with ID or autism major clinical...
Neural differentiation, synaptic transmission, and action potential propagation depend on membrane sphingolipids, whose metabolism is tightly regulated. Mutations in the ceramide transporter CERT (CERT1), which involved sphingolipid biosynthesis, are associated with intellectual disability, but pathogenic mechanism remains obscure. Here, we characterize 31 individuals de novo missense variants CERT1. Several fall into a previously uncharacterized dimeric helical domain that enables...
Purpose: Patients with rare or ultra-rare genetic diseases, which affect 350 million people worldwide, may experience a diagnostic odyssey. High-throughput sequencing leads to an etiological diagnosis in up 50% of individuals heterogeneous neurodevelopmental malformation disorders. There is growing interest additional omics technologies translational research settings examine the remaining unsolved cases. Methods: We gathered 30 syndromes and/or severe disorders negative trio exome and array...
The phagocyte NADPH oxidase, belonging to the oxidase family (Nox), is dedicated production of bactericidal reactive oxygen species. enzyme catalytic center cytochrome <i>b</i><sub>558</sub>, formed by 2 subunits, Nox2 (gp91-phox) and p22-phox. Cytochrome <i>b</i><sub>558</sub> activation results from a conformational change induced cytosolic regulatory proteins (p67-phox, p47-phox, p40-phox Rac). subunit Nox2, while p22-phox essential for both...
Phenylketonuria (PKU) is a disorder of phenylalanine metabolism, characterized by neurotoxic (Phe) accumulation, and treatable with life-long Phe-restricted diet. Though early continuously treated PKU (ETPKU) patients exhibit normal IQ, their cognitive outcome remains suboptimal. In this longitudinal study, we aimed at assessing the determinants IQ subscales quality metabolic control in ETPKU children. We collected blood Phe levels, numbers samples for determination, parents'...
Abstract The rise of pangenomic molecular assays allowed uncovering complex rearrangements named chromoanagenesis that were hypothesized to result from catastrophic shattering events. Constitutional cases have typically been reported individually preventing identification common features and the mechanisms at play. We characterized 20 new discovered yet undescribed features. While literature differentiates chromothripsis its event repaired through non-homologous end joining...
Protein arginine methyltransferase 7 (PRMT7) is a member of family enzymes that catalyzes the methylation residues on several protein substrates. Biallelic pathogenic PRMT7 variants have previously been associated with syndromic neurodevelopmental disorder characterized by short stature, brachydactyly, intellectual developmental disability, and seizures. To our knowledge, no comprehensive study describes detailed clinical characteristics this syndrome. Thus, we aim to delineate phenotypic...
With the development of next generation sequencing technologies in France, exome (ES) has recently emerged as an opportunity to improve diagnosis rate patients presenting intellectual disability (ID). To help French policy makers determine adequate tariff for ES, we aimed assess unit cost per ES diagnostic test ID from preparation pre-analytical step until report writing and identify its main drivers.A micro-costing bottom-up approach was conducted year 2018 a setting part DISSEQ study,...
Congenital myopathies (CMs) are a group of rare inherited most commonly presenting in infancy with hypotonia and weakness. They have been classified on the basis distinctive myopathologic features. Mutations more than 25 genes can cause CM.1