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Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 11, 2016
Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patientsLivia Garavelli, Ivan Ivanovski, Stefano Giuseppe Caraffi, et al.Human Mutation|February 7, 2015
De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypesMaría Concepción Gil-Rodríguez, Matthew A Deardorff, Morad Ansari, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 5, 2018
Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for careIvan Ivanovski, Olivera Djuric, Stefano Giuseppe Caraffi, et al.The Journal of Clinical Investigation|March 28, 2023
CERT1 mutations perturb human development by disrupting sphingolipid homeostasisCharlotte Gehin, Museer A Lone, Winston Lee, et al.American Journal of Human Genetics|February 17, 2021
SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in femalesFrancesca Clementina Radio, Kaifang Pang, Andrea Ciolfi, et al.Pageof 19