Xiaolu Meng

TBX6-associated congenital scoliosis (TACS) as a clinically distinguishable subtype of congenital scoliosis: further evidence supporting the compound inheritance and TBX6 gene dosage model

Jiaqi Liu, Nan Wu, Nan Yang et al. · Genetics in Medicine · 2019 · 90 citations · Full text

Medicine, Genetics, Molecular Genetics +13

Identification of loss-of-function HOXA2 mutations in Chinese families with dominant bilateral microtia

Nuo Si, Xiaolu Meng, Xiaosheng Lu et al. · Gene · 2020 · 27 citations

Life Sciences, Genetics, Molecular Genetics +12

Duplications involving the long range HMX1 enhancer are associated with human isolated bilateral concha-type microtia

Nuo Si, Xiaolu Meng, Xiaosheng Lu et al. · Journal of Translational Medicine · 2020 · 24 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

A novel MAF missense mutation leads to congenital nuclear cataract by impacting the transactivation of crystallin and noncrystallin genes

Nuo Si, Zixun Song, Xiaolu Meng et al. · Gene · 2019 · 18 citations

Medicine, Genetics, Molecular Genetics +16

Application of next-generation sequencing to screen for pathogenic mutations in 123 unrelated Chinese patients with Marfan syndrome or a related disease

Jiacheng Li, Chaoxia Lu, Wei Wu et al. · Science China Life Sciences · 2019 · 16 citations

Life Sciences, Genetics, Molecular Genetics +17