Martina Brueckner

De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features.

Denise G. Lanza, Jason D. Heaney, J. Posey, 2024, American journal of human genetics.

SMC5 Plays Independent Roles in Congenital Heart Disease and Neurodevelopmental Disability

M. Konstantino, M. Pryzhkova, Philip W. Jordan, 2023, International journal of molecular sciences.