Phenotypic and genetic spectrum of isolated macrodactyly: somatic mosaicism of PIK3CA and AKT1 oncogenic variants
2020 · Orphanet Journal of Rare Diseases · 24 citations
https://doi.org/10.1186/s13023-020-01572-9
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Zefu Chen
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Zefu Chen is an academic researcher from Academy of Medical Sciences. The author has contributed to research in topics: Connective tissue disorders research & Genomics and Rare Diseases & Wnt/β-catenin signaling in development and cancer. The author has an h-index of 12, co-authored 37 publications.
Papers by this author
worksFunctional characteristics of a broad spectrum of TBX6 variants in Mayer-Rokitansky-Küster-Hauser syndrome
2022 · Genetics in Medicine · 15 citations
https://doi.org/10.1016/j.gim.2022.08.012
Deciphering the mutational signature of congenital limb malformations
2021 · Molecular Therapy — Nucleic Acids · 12 citations
https://doi.org/10.1016/j.omtn.2021.04.012
Cost-effectiveness analysis of using the TBX6-associated congenital scoliosis risk score (TACScore) in genetic diagnosis of congenital scoliosis
2020 · Orphanet Journal of Rare Diseases · 5 citations
https://doi.org/10.1186/s13023-020-01537-y
Cost-effectiveness analysis of using the TBX6-associated congenital scoliosis risk score (TACScore) in genetic diagnosis of congenital scoliosis
2020 · Orphanet Journal of Rare Diseases · 5 citations
https://doi.org/10.1186/s13023-020-01537-y
Phenotype expansion of variants affecting p38 MAPK signaling in hypospadias patients
2022 · Orphanet Journal of Rare Diseases · 3 citations
https://doi.org/10.1186/s13023-022-02334-5
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