Genetic abnormalities in a large cohort of Coffin–Siris syndrome patientsFutoshi Sekiguchi, Katta M. Girisha, Yoshinori Tsurusaki et al.|Journal of Human Genetics|2019Cited by 74
Clinical consequences in truncating mutations in exon 34 of <i>NOTCH2</i>: Report of six patients with Hajdu–Cheney syndrome and a patient with serpentine fibula polycystic kidney syndromeYoko Narumi, Gen Nishimura, Yoon‐Sok Chung et al.|American Journal of Medical Genetics Part A|2013Cited by 28
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
Al-Gazali Skeletal Dysplasia Constitutes the Lethal End of ADAMTSL2-Related DisordersDominyka Batkovskyte, Giedré Grigelioniené, F. Ellis McKenzie et al.|Journal of Bone and Mineral Research|2020Cited by 18