Guillaume Jouret
A5060816415- Genomics and Rare Diseases
- Genomic variations and chromosomal abnormalities
- Genetics and Neurodevelopmental Disorders
- Genomics and Chromatin Dynamics
- RNA modifications and cancer
- Frailty in Older Adults
- Signaling Pathways in Disease
- Cardiomyopathy and Myosin Studies
- Williams Syndrome Research
- Hearing Loss and Rehabilitation
- Digestive system and related health
- Protease and Inhibitor Mechanisms
- Immunodeficiency and Autoimmune Disorders
- Tumors and Oncological Cases
- Ear Surgery and Otitis Media
- Hearing, Cochlea, Tinnitus, Genetics
- Chromatin Remodeling and Cancer
- Pancreatic function and diabetes
- Bone and Dental Protein Studies
- Congenital heart defects research
- Peptidase Inhibition and Analysis
Laboratoire National de Santé
2020-2024
Centre Hospitalier Universitaire de Reims
2022
Université de Reims Champagne-Ardenne
2022
Abstract KBG syndrome (KBGS) is characterized by distinctive facial gestalt, short stature and variable clinical findings. With ageing, some features become more recognizable, allowing a differential diagnosis. We aimed to better characterize natural history of KBGS. In the context European collaborative study, we collected largest cohort KBGS patients (49). A combined array- based Comparative Genomic Hybridization next generation sequencing (NGS) approach investigated both genomic Copy...
Chromosome 1p36 deletion syndrome (1p36DS) is one of the most common terminal syndromes (incidence between 1/5000 and 1/10,000 live births in American population), due to a heterozygous part short arm chromosome 1. The 1p36DS characterized by typical craniofacial features, developmental delay/intellectual disability, hypotonia, epilepsy, cardiomyopathy/congenital heart defect, brain abnormalities, hearing loss, eyes/vision problem, stature. aim our study was (1) evaluate incidence French...
BRD4 is part of a multiprotein complex involved in loading the cohesin onto DNA, fundamental process required for cohesin-mediated loop extrusion and formation Topologically Associating Domains. Pathogenic variations this have been associated with growing number syndromes, collectively known as cohesinopathies, most classic being Cornelia de Lange syndrome. However, no cohort study has conducted to delineate clinical molecular spectrum BRD4-related disorder. We formed an international...
A small but growing body of scientific literature is emerging about clinical findings in patients with 19p13.3 microdeletion or duplication. Recently, a proximal microduplication syndrome was described, associated growth delay, microcephaly, psychomotor delay and dysmorphic features. The aim our study to better characterize the duplications region (prox dup), propose comprehensive analysis underlying genomic mechanism. We report largest cohort prox dup through collaborative study. collected...
Heterozygous pathogenic variants in NTRK2 (HGNC: 8032) have been associated with global developmental delay. However, only scattered cases described small or general studies. The aim of our work was to consolidate understanding NTRK2-related disorders and delineate the clinical presentation METHODS: We report extended cohort 44 affected individuals, whom 19 are from literature 25 were previously unreported.
Abstract Background We studied a young woman with atypical diabetes associated mild intellectual disability, lymphedema distichiasis syndrome (LDS) and polymalformative including distichiasis. used different genetic tools to identify causative pathogenic mutations and/or copy number variations. Results Although proband’s, mellitus occurred during childhood, type 1 was unlikely due the absence of detectable autoimmunity. DNA microarray analysis first identified de novo, heterozygous deletion...