Kevin Huang

Biallelic variants in <i>WARS1</i> cause a highly variable neurodevelopmental syndrome and implicate a critical exon for normal auditory function

Sheng‐Jia Lin, Barbara Vona, Hillary M. Porter et al. · Human Mutation · 2022 · 29 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Itraconazole inhibits nuclear delivery of extracellular vesicle cargo by disrupting the entry of late endosomes into the nucleoplasmic reticulum

Mark F. Santos, Germana Rappa, Jana Karbanová et al. · Journal of Extracellular Vesicles · 2021 · 28 citations · Full text

Life Sciences, Cell Biology, Molecular Biology +17

ABE-ultramax for high-efficiency biallelic adenine base editing in zebrafish

Wei Qin, Fang Ting Liang, Sheng‐Jia Lin et al. · Nature Communications · 2024 · 27 citations · Full text

Life Sciences, Genetics, Molecular Biology +15

Bi-allelic <i>ACBD6</i> variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders

Rauan Kaiyrzhanov, Abolfazl Rad, Sheng‐Jia Lin et al. · Brain · 2023 · 18 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

<i>WARS1</i> and <i>SARS1</i> : Two tRNA synthetases implicated in autosomal recessive microcephaly

Nina Bögershausen, Hannah Elisa Krawczyk, Rami Abou Jamra et al. · Human Mutation · 2022 · 17 citations · Full text

Life Sciences, Genetics, Neuroscience +17