Huiming Yan

机构：Nankai University

发表论文 17 篇 · 总被引 196 次 · h-index 7

代表论文

• Comprehensive Analysis of Congenital Adrenal Hyperplasia Using Long-Read Sequencing (2022 · Clinical Chemistry · 被引 82)
• Variants in CAPZA2, a member of an F-actin capping complex, cause intellectual disability and developmental delay (2020 · Human Molecular Genetics · 被引 30)
• Carnitine-acylcarnitine translocase deficiency with c.199-10 T>G and novel c.1A>G mutation (2017 · Medicine · 被引 28)
• Novel Mutations in the GTPBP3 Gene for Mitochondrial Disease and Characteristics of Related Phenotypic Spectrum: The First Three Cases From China (2021 · Frontiers in Genetics · 被引 13)
• Molecular investigation in Chinese patients with primary carnitine deficiency (2019 · Molecular Genetics & Genomic Medicine · 被引 13)
• C4OH is a potential newborn screening marker—a multicenter retrospective study of patients with beta-ketothiolase deficiency in China (2021 · Orphanet Journal of Rare Diseases · 被引 12)