Ange‐Line Bruel

发表论文 219 篇 · 总被引 5006 次 · h-index 40

代表论文

PFMG2025–integrating genomic medicine into the national healthcare system in France (2025 · The Lancet Regional Health - Europe · 被引 54)
Germline mutations in a G protein identify signaling cross-talk in T cells (2024 · Science · 被引 28)
BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations (2024 · European Journal of Human Genetics · 被引 17)
Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies (2025 · medRxiv · 被引 9)
ARID2-related disorder: further delineation of the clinical phenotype of 27 novel individuals and description of an epigenetic signature (2025 · European Journal of Human Genetics · 被引 8)
PERIGENOMED-CLINICS 1—the first study on feasibility, acceptability and psychosocial impact of PERIGENOMED: a pilot project aimed at providing initial concrete evidence on the relevance of panel-based genome sequencing for newborn screening (NBS) in France (2025 · BMJ Open · 被引 7)