Cecilia Soussi Zander

Mutations in HECW2 are associated with intellectual disability and epilepsy

L. Feuk, P. Georgii‐Hemming, Jonatan Halvardson, 2016, Journal of Medical Genetics.

Novel PNKP mutations associated with reduced DNA single‐strand break repair and severe microcephaly, seizures, and developmental delay

K. Caldecott, Talia Akram, J. Brazina, 2023, Molecular genetics & genomic medicine.

Proximal Deletion 12q with a New Insight to Growth Retardation

M. Sobol, A. Thuresson, C. Soussi Zander, 2020, Molecular Syndromology.