Ange-Line Bruel
Inserm(FR)Université de Bourgogne(FR)Centre de recherche Translationnelle en Médecine moléculaire(FR)Institut de Génomique Fonctionnelle(FR)
Publications by Year
Research Areas
Genomics and Rare Diseases, Genomic variations and chromosomal abnormalities, Genetics and Neurodevelopmental Disorders, Parkinson's Disease Mechanisms and Treatments, Mitochondrial Function and Pathology
Most-Cited Works
- → Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism(2019)48 cited
- → Bi-allelic Variants in the GPI Transamidase Subunit PIGK Cause a Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy, and Epilepsy(2020)40 cited
- → MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects(2021)36 cited
- → Abrogation of MAP4K4 protein function causes congenital anomalies in humans and zebrafish(2023)8 cited
- → Heterozygous RAB3A variants cause cerebellar ataxia by a partial loss-of-function mechanism(2025)5 cited
- → Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients(2018)2 cited