Identification of signal peptide domain SOST mutations in autosomal dominant craniodiaphyseal dysplasiaSu Jin Kim, Dong‐Kyu Jin, Geung Hwan Ahn et al.|Human Genetics|2011Cited by 88
TRPV4-pathy, a novel channelopathy affecting diverse systemsJin Dai, Shiro Ikegawa, Tae‐Joon Cho et al.|Journal of Human Genetics|2010Cited by 51
Identification and<i>In Vivo</i>Functional Characterization of Novel Compound Heterozygous<i>BMP1</i>Variants in Osteogenesis ImperfectaSung Yoon Cho, Dong‐Kyu Jin, P. V. Asharani et al.|Human Mutation|2014Cited by 32
A dominant mesomelic dysplasia associated with a 1.0-Mb microduplication of HOXD gene cluster at 2q31.1Tae‐Joon Cho, W.-Y. Park, In Ho Choi et al.|Journal of Medical Genetics|2010Cited by 29