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82171713

Funded outputs count: 7
Funder award ID: 82171713
OpenAlex ID: G487581316
ARID1B regulates sphingolipid metabolism and myelin development via STAG2: Mechanistic insights into ARID1B-related coffin–siris syndrome
2026 · Xingkun Yang, Zhongzhi Gan, et al. · Cellular Signalling
Detection of Rare Thalassemia Variants Using Accurate Circular Consensus Long‐Read Sequencing
2026 · Xiaoqiang Zhou, Yue Chen, et al. · Human Mutation · 1
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Mosaic tetrasomy 9p detected by CNV-seq but missed by traditional karyotyping in a prenatal case without dysmorphic features
2025 · Xingkun Yang, Yasi Zhou, et al. · Molecular Cytogenetics · 2
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A Rare Case of Bardet-Biedl Syndrome Caused by a Heterozygous Point Variant in BBS7 and a CNV Involved BBS7
2025 · Xingkun Yang, Xiaoqiang Zhou, et al. · Molecular Syndromology · 1
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A missense variant in the SOX5 gene (c.221C > T) is associated with intellectual disability
2025 · Xiujuan Yang, Xiujuan Yang, et al. · Orphanet Journal of Rare Diseases
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Case Report: Novel CNGA3 compound heterozygous variants cause achromatopsia in three patients from a family
2024 · Xiaoqiang Zhou, Yasi Zhou, et al. · Frontiers in Genetics
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Case Report: A Novel Compound Heterozygous Mutation of the FRMD4A Gene Identified in a Chinese Family With Global Developmental Delay, Intellectual Disability, and Ataxia
2021 · Yuhua Pan, Xiaoling Guo, et al. · Frontiers in Pediatrics · 2
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