Suzanne M. Leal

机构：Columbia University Irving Medical Center · ORCID：0000-0003-1231-8174

发表论文 385 篇 · 总被引 30927 次 · h-index 75

代表论文

Optical genome mapping unveils hidden structural variants in neurodevelopmental disorders (2024 · Scientific Reports · 被引 26)
Rare-variant association analysis reveals known and new age-related hearing loss genes (2023 · European Journal of Human Genetics · 被引 25)
Variants of LRP2 , encoding a multifunctional cell‐surface endocytic receptor, associated with hearing loss and retinal dystrophy (2023 · Clinical Genetics · 被引 24)
Large-scale meta–genome-wide association study reveals common genetic factors linked to radiation-induced acute toxicities across cancer types (2023 · JNCI Cancer Spectrum · 被引 22)
Clinical, muscle imaging, and genetic characteristics of dystrophinopathies with deep-intronic DMD variants (2022 · Journal of Neurology · 被引 13)
Mendelian non-syndromic and syndromic hearing loss genes contribute to presbycusis (2025 · European Journal of Human Genetics · 被引 9)