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Journal of Medical Genetics|August 19, 2018
Perturbations of BMP/TGF-β and VEGF/VEGFR signalling pathways in non-syndromic sporadic brain arteriovenous malformations (BAVM)Kun Wang, Sen Zhao, Bowen Liu, et al.NPJ Genomic Medicine|February 16, 2022
Expanding the mutation and phenotype spectrum of MYH3-associated skeletal disordersSen Zhao, Yuanqiang Zhang, Sigrun Hallgrimsdottir, et al.Human Mutation|September 1, 2019
TBX6 missense variants expand the mutational spectrum in a non-Mendelian inheritance diseaseWeisheng Chen, Jiachen Lin, Lianlei Wang, et al.Molecular Genetics & Genomic Medicine|November 28, 2019
Genetic and molecular mechanism for distinct clinical phenotypes conveyed by allelic truncating mutations implicated in FBN1Mao Lin, Zhenlei Liu, Gang Liu, et al.Journal of Medical Genetics|May 9, 2020
Diagnostic yield and clinical impact of exome sequencing in early-onset scoliosis (EOS)Sen Zhao, Yuanqiang Zhang, Weisheng Chen, et al.Pageof 5