Véronique Pingault

机构：Hôpital Necker-Enfants Malades, Assistance Publique – Hôpitaux de Paris · ORCID：0000-0001-7064-0765

发表论文 82 篇 · 总被引 4688 次 · h-index 32

代表论文

• PFMG2025–integrating genomic medicine into the national healthcare system in France (2025 · The Lancet Regional Health - Europe · 被引 46)
• Spliceosome malfunction causes neurodevelopmental disorders with overlapping features (2023 · Journal of Clinical Investigation · 被引 46)
• Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders (2023 · European Journal of Human Genetics · 被引 29)
• AI-based diagnosis in mandibulofacial dysostosis with microcephaly using external ear shapes (2023 · Frontiers in Pediatrics · 被引 11)
• Waardenburg Syndrome: The Contribution of Next-Generation Sequencing to the Identification of Novel Causative Variants (2023 · Audiology Research · 被引 8)
• Monoallelic loss-of-function variants in GSK3B lead to autism and developmental delay (2024 · Molecular Psychiatry · 被引 7)