Sandra M. Nordlie

Mutations disrupting neuritogenesis genes confer risk for cerebral palsy

Daniela C. Zarnescu, J. Gécz, J. Vincent, 2020, Nature Genetics.

Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss.

J. Gécz, W. Chung, H. Hakonarson, 2021, American journal of human genetics.

Pantothenate kinase–associated neurodegeneration

M. Kruer, S. Padilla-Lopez, Sandra M. Nordlie, 2020, Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease.