SG
Shen Gu
Also known as: Linda
Research areas: Biochemistry, Genetics and Molecular Biology · Genetics · Genomics and Rare Diseases · Genomic variations and chromosomal abnormalities · Genetics and Neurodevelopmental Disorders
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Publications (59)
- PRC2‐Related Epigenetic Age Acceleration in Acute Myeloid Leukemia with DNMT3A and IDH2 Mutations Save
- Developmental chronology of mouse embryo from 2-cell stage through birth Save
- Epigenome editing based treatment: Progresses and challenges Save
- The indispensable role of Mediator complex subunit 27 during neurodevelopment Save
- RNA Mis-Splicing Effects of Noncanonical Splicing Variants in Limb-Girdle Muscular Dystrophy Type R1/2A Save
- Amelioration of premature aging in Werner syndrome stem cells by targeting SHIP/AKT pathway Save
- Gene print-based cell subtypes annotation of human disease across heterogeneous datasets with gPRINT Save
- Pathogenicity of Mediator Complex Subunit 27 (MED27) in a Neurodevelopmental Disorder with Cerebellar Atrophy Save
- A robust pipeline for ranking carrier frequencies of autosomal recessive and X-linked Mendelian disorders Save
- Pathogenicity mechanism and gene therapy of hereditary spastic paraplegia caused by recurrent UBAP1 variant Save
- Decoding hereditary spastic paraplegia pathogenicity through transcriptomic profiling Save
- Disease modeling of ADAMTS9-related nephropathy using kidney organoids reveals its roles in tubular cells and podocytes Save
- Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease Save
- Monoallelic variation in<italic> DHX9,</italic> the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease Save
- Non-canonical C-terminal variant of MeCP2 R344W exhibits enhanced degradation rate Save
- Single-cell analysis reveals specific neuronal transition during mouse corticogenesis Save
- A Cd9+Cd271+ stem/progenitor population and the SHP2 pathway contribute to neonatal-to-adult switching that regulates tendon maturation Save
- A robust pipeline for ranking carrier frequencies of autosomal recessive and X-linked Mendelian disorders Save
- Developmental genomics of limb malformations: Allelic series in association with gene dosage effects contribute to the clinical variability Save
- Functional characterization of Variants of Uncertain Significance (VUSs) identified in patients with early-life epilepsy in Hong Kong Save