Bi-allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy with Brain MalformationLong Guo, Shiro Ikegawa, Naomichi Matsumoto et al.|The American Journal of Human Genetics|2019Cited by 136
Identification of a novel LRRK1 mutation in a family with osteosclerotic metaphyseal dysplasiaLong Guo, Shiro Ikegawa, Katta M. Girisha et al.|Journal of Human Genetics|2016Cited by 41
Axial spondylometaphyseal dysplasia is also caused by NEK1 mutationsZheng Wang, Shiro Ikegawa, Eva Horemuzova et al.|Journal of Human Genetics|2017Cited by 38
Novel and recurrent XYLT1 mutations in two Turkish families with Desbuquois dysplasia, type 2Long Guo, Shiro Ikegawa, Nursel H Elcioglu et al.|Journal of Human Genetics|2016Cited by 37
Novel KIAA0753 mutations extend the phenotype of skeletal ciliopathiesAnna Hammarsjö, Shiro Ikegawa, Z. Wang et al.|Scientific Reports|2017Cited by 36