Pratishtha Varshney

Biallelic variants in KARS1 are associated with neurodevelopmental disorders and hearing loss recapitulated by the knockout zebrafish

Barbara Vona, Patrícia Gonçalves Barbalho, Rauan Kaiyrzhanov et al. · Genetics in Medicine · 2021 · 31 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

A biallelic variant in CLRN2 causes non-syndromic hearing loss in humans

Barbara Vona, Neda Mazaheri, Sheng‐Jia Lin et al. · Human Genetics · 2021 · 28 citations · Full text

Life Sciences, Genetics, Molecular Genetics +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

Evaluating the association of biallelic OGDHL variants with significant phenotypic heterogeneity

Sheng‐Jia Lin, Barbara Vona, Tracy Lau et al. · Genome Medicine · 2023 · 13 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Optimizing gRNA selection for high-penetrance F0 CRISPR screening for interrogating disease gene function

Sheng‐Jia Lin, Kevin Huang, Cassidy Petree et al. · Nucleic Acids Research · 2025 · 10 citations · Full text

Life Sciences, Genetics, Molecular Biology +17