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Prenatal Diagnosis|December 15, 2017
Nonisolated diaphragmatic hernia in Simpson-Golabi-Behmel syndromeKaren Chong, Maha Saleh, Marie Injeyan, et al.Prenatal Diagnosis|December 10, 2016
Mutations in the NEB gene cause fetal akinesia/arthrogryposis multiplex congenitaMichal Feingold-Zadok, David Chitayat, Karen Chong, et al.American Journal of Medical Genetics. Part A|January 18, 2019
Homozygous/compound heterozygote RYR1 gene variants: Expanding the clinical spectrumEbba Alkhunaizi, Shirley Shuster, Patrick Shannon, et al.Human Molecular Genetics|May 2, 2019
Human IFT52 mutations uncover a novel role for the protein in microtubule dynamics and centrosome cohesionMarie Alice Dupont, Camille Humbert, Céline Huber, et al.Pageof 1