Japanese founder duplications/triplications involving BHLHA9 are associated with split-hand/foot malformation with or without long bone deficiency and Gollop-Wolfgang complexEiko Nagata, Tsutomu Ogata, Hiroki Kano et al.|Orphanet Journal of Rare Diseases|2014Cited by 27
Compound heterozygous deletions in pseudoautosomal region 1 in an infant with mild manifestations of langer mesomelic dysplasiaTakayoshi Tsuchiya, Maki Fukami, Minoru Shibata et al.|American Journal of Medical Genetics Part A|2013Cited by 21
<i>De novo</i> non-synonymous DPYSL2 (CRMP2) variants in two patients with intellectual disabilities and documentation of functional relevance through zebrafish rescue and cellular transfection experimentsHisato Suzuki, Toshio Ohshima, Hironobu Okuno et al.|Human Molecular Genetics|2022Cited by 12