Analysis of cilia dysfunction phenotypes in zebrafish embryos depleted of Origin recognition complex factors

Overview of attention for article published in European Journal of Human Genetics, January 2019

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De novo MCM6 variants in neurodevelopmental disorders: a recognizable phenotype related to zinc binding residues

Article in Human Genetics (May 2023)

The expanding genetic and clinical landscape associated with Meier-Gorlin syndrome

Article in European Journal of Human Genetics (April 2023)

Meier–Gorlin Syndrome: Clinical Misdiagnosis, Genetic Testing and Functional Analysis of ORC6 Mutations and the Development of a Prenatal Test

Article in International Journal of Molecular Sciences (August 2022)