L. Guibaud

发表论文 198 篇 · 总被引 5563 次 · h-index 36

代表论文

• Alpelisib administration reduced lymphatic malformations in a mouse model and in patients (2021 · Science Translational Medicine · 被引 76)
• Treatment of two infants with PIK3CA-related overgrowth spectrum by alpelisib (2022 · Journal of Experimental Medicine · 被引 56)
• PIK3CA gain-of-function mutation in adipose tissue induces metabolic reprogramming with Warburg-like effect and severe endocrine disruption (2022 · Science Advances · 被引 31)
• French national diagnosis and care protocol (PNDS, protocole national de diagnostic et de soins): cystic lymphatic malformations (2023 · Orphanet Journal of Rare Diseases · 被引 19)
• Deficiency of the minor spliceosome component U4atac snRNA secondarily results in ciliary defects in human and zebrafish (2023 · Proceedings of the National Academy of Sciences of the United States of America · 被引 18)
• Abnormalities of the corpus callosum. Can prenatal imaging predict the genetic status? Correlations between imaging phenotype and genotype (2023 · Prenatal Diagnosis · 被引 11)