Selected publications

Article

Reilly, Madeline L, Ain, Noor U, Muurinen, Mari, Tata, Alice, Huber, Celine, Simon, Marleen, Ishaq, Tayyaba, Shaw, Nick, Rusanen, Salla, Pekkinen, Minna, Högler, Wolfgang, Knapen, Maarten F C M, van den Born, Myrthe, Saunier, Sophie, Naz, Sadaf, Cormier-Daire, Valerie, Benmerah, Alexandre and Makitie, Outie (2022) Biallelic KIF24 variants are responsible for a spectrum of skeletal disorders ranging from lethal skeletal ciliopathy to severe acromesomelic dysplasia. Journal of Bone and Mineral Research, 37 (9). pp. 1642-1652. ISSN 0884-0431