N. Hanna

发表论文 59 篇 · 总被引 2140 次 · h-index 22

代表论文

Clinical relevance of genotype–phenotype correlations beyond vascular events in a cohort study of 1500 Marfan syndrome patients with FBN1 pathogenic variants (2021 · Genetics in Medicine · 被引 120)
Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics (2020 · Genome Biology · 被引 79)
PFMG2025–integrating genomic medicine into the national healthcare system in France (2025 · The Lancet Regional Health - Europe · 被引 48)
Pathogenic variants in THSD4, encoding the ADAMTS-like 6 protein, predispose to inherited thoracic aortic aneurysm (2020 · Genetics in Medicine · 被引 41)
Phenotypic spectrum of TGFB3 disease‐causing variants in a Dutch‐French cohort and first report of a homozygous patient (2020 · Clinical Genetics · 被引 20)
Differences in Arterial Events in Vascular Ehlers-Danlos, Loeys-Dietz, and Marfan Syndrome. (2025 · Journal of the American College of Cardiology · 被引 18)