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 diseaseNan Wu, Jiaqi Liu, Yangzhong Zhou et al.|Human Genetics|2018Cited by 85
<i>TBX6</i> missense variants expand the mutational spectrum in a non‐Mendelian inheritance diseaseWei‐Sheng Chen, Nan Wu, Jiachen Lin et al.|Human Mutation|2019Cited by 36
Genetic and molecular mechanism for distinct clinical phenotypes conveyed by allelic truncating mutations implicated in <i>FBN1</i>Mao Lin, Nan Wu, Zhenlei Liu et al.|Molecular Genetics & Genomic Medicine|2019Cited by 26
Exome sequencing reveals a novel variant in <i>NFX1</i> causing intracranial aneurysm in a Chinese familyXinghuan Ding, Kun Wang, Xinzhuang Yang et al.|Journal of NeuroInterventional Surgery|2019Cited by 12
Mutational landscape and genetic signatures of cell‐free DNA in tumour‐induced osteomalaciaZhihong Wu, Zhen Zhang, Xi Zhou et al.|Journal of Cellular and Molecular Medicine|2020Cited by 8