Novel mutations in SPEF2 causing different defects between flagella and cilia bridge: the phenotypic link between MMAF and PCD. Tu C, Nie H, Meng L, Wang W, Li H, Yuan S, Cheng D, He W, Liu G, Du J, Gong F, Lu G, Lin G, Zhang Q, Tan YQ.Hum Genet. 2020 Feb;139(2):257-271. doi: 10.1007/s00439-020-02110-0. Epub 2020 Jan 16.
Pre One:Parental mosaicism in de novo neurodevelopmental diseases Li Shu 1 2 3, Qianjun Zhang 4 5 6, Qi Tian 1 2, Sai Yang 7, Xingwang Peng 8, Xiao Mao 1 2, Liming Yang 7, Juan Du 4 5 6, Hua Wang Am J Med Genet A. 2021 Jul;185(7):2119-2125. doi: 10.1002/ajmg.a.62174.Epub 2021 Apr 14.
Next One:Combinations of exonic deletions and rare mutations lead to misdiagnosis of propionic acidemia. Wang H, Meng L, Li W, Du J, Tan Y, Gong F, Lu G, Lin G, Zhang Q.ClinChimActa. 2020 Mar;502:153-158. doi: 10.1016/j.cca.2019.12.021
