Publications

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2021
Zhao, S. et al. Diagnostic yield and clinical impact of exome sequencing in early-onset scoliosis (EOS). J Med Genet 58, 41-47 (2021).
Chen, N. et al. Perturbations of genes essential for Müllerian duct and Wölffian duct development in Mayer-Rokitansky-Küster-Hauser syndrome. Am J Hum Genet 108, 337-345 (2021).
2020
Ding, X. et al. Exome sequencing reveals a novel variant in causing intracranial aneurysm in a Chinese family. J Neurointerv Surg 12, 221-226 (2020).
Lin, M. et al. Genetic and molecular mechanism for distinct clinical phenotypes conveyed by allelic truncating mutations implicated in FBN1. Mol Genet Genomic Med 8, e1023 (2020).
Yang, N. et al. Human and mouse studies establish TBX6 in Mendelian CAKUT and as a potential driver of kidney defects associated with the 16p11.2 microdeletion syndrome. Kidney Int 98, 1020-1030 (2020).
Ren, X. et al. Increased gene dosages induce congenital cervical vertebral malformations in humans and mice. J Med Genet 57, 371-379 (2020).
Dhaheri, N. Al et al. KIAA1217: A novel candidate gene associated with isolated and syndromic vertebral malformations. Am J Med Genet A 182, 1664-1672 (2020).
Chen, W. et al. TBX6 missense variants expand the mutational spectrum in a non-Mendelian inheritance disease. Hum Mutat 41, 182-195 (2020).
2019
Yang, N. et al. TBX6 compound inheritance leads to congenital vertebral malformations in humans and mice. Hum Mol Genet 28, 539-547 (2019).
Liu, J. et al. TBX6-associated congenital scoliosis (TACS) as a clinically distinguishable subtype of congenital scoliosis: further evidence supporting the compound inheritance and TBX6 gene dosage model. Genet Med 21, 1548-1558 (2019).
2018
Liu, J. et al. The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease. Hum Genet 137, 553-567 (2018).
Wang, K. et al. Perturbations of BMP/TGF-β and VEGF/VEGFR signalling pathways in non-syndromic sporadic brain arteriovenous malformations (BAVM). J Med Genet 55, 675-684 (2018).