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Mutations of MSH5 in nonobstructive azoospermia (NOA) and rescued via in vivo gene editing.
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Family-Based Whole-Exome Analysis of Specific Language Impairment (SLI) Identifies Rare Variants in BUD13, a Component of the Retention and Splicing (RES) Complex.
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Brain Sciences, 2021
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Ebiomedicine, 2021
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Familial Temperature-Sensitive Auditory Neuropathy: Distinctive Clinical Courses Caused by Variants of the OTOF Gene.
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Frontiers in Cell and Developmental Biology, 2021
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Polymorphisms in mitochondrial ribosomal protein S5 (MRPS5) are associated with leprosy risk in Chinese.
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Supplement: pntd.0008883.s010.xlsx › S9-rare_variants_in_8_families
Capturing the biology of disease severity in a PSC-based model of familial dysautonomia.
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Co-existence of BRAF and NRAS driver mutations in the same melanoma cells results in heterogeneity of targeted therapy resistance.
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Oncotarget, 2016
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