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
Pre One: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.
Next One:Long-read sequencing identified a causal structural variant in an exome-negative case and enabled preimplantation genetic diagnosis. Miao H, Zhou J, Yang Q, Liang F, Wang D, Ma N, Gao B, Du J, Lin G, Wang K, Zhang Q.Hereditas. 2018 Sep 28;155:32. doi: 10.1186/s41065-018-0069-1.
