Lamisse Mansour‐Hendili

机构：Université de Pau et des Pays de l'Adour, Université Paris-Est Créteil, Assistance Publique – Hôpitaux de Paris, Hôpitaux Universitaires Henri-Mondor · ORCID：0000-0001-7887-9156

发表论文 35 篇 · 总被引 788 次 · h-index 12

代表论文

• Clinical and Genetic Spectrum of Bartter Syndrome Type 3 (2017 · Journal of the American Society of Nephrology · 被引 120)
• Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption (2025 · Nature Genetics · 被引 47)
• PFMG2025–integrating genomic medicine into the national healthcare system in France (2025 · The Lancet Regional Health - Europe · 被引 47)
• Exome sequencing for diagnosis of congenital hemolytic anemia (2020 · Orphanet Journal of Rare Diseases · 被引 27)
• Characterization of genetic variants in the EGLN1/PHD2 gene identified in a European collection of patients with erythrocytosis (2023 · Haematologica · 被引 21)
• Comprehensive in silico and functional studies for classification of EPAS1/HIF2A genetic variants identified in patients with erythrocytosis (2023 · Haematologica · 被引 16)