Kristin A. Rigbye

Severe childhood speech disorder: gene discovery highlights transcriptional dysregulation

Victoria E. Jackson, I. Scheffer, J. Gécz, 2019 .

A missense mutation in the MLKL brace region promotes lethal neonatal inflammation and hematopoietic dysfunction

Victoria E. Jackson, M. Brown, J. Reveille, 2020, Nature Communications.

Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia

Victoria E. Jackson, I. Scheffer, T. Strom, 2019, Genetics in Medicine.

Is FGF13 a major contributor to genetic epilepsy with febrile seizures plus?

I. Scheffer, J. Gécz, J. McNamara, 2016, Epilepsy Research.

Severe childhood speech disorder: gene discovery highlights transcriptional dysregulation

Victoria E. Jackson, I. Scheffer, J. Gécz, 2020, Neurology.

Missense mutations in the MLKL ‘brace’ region lead to lethal neonatal inflammation in mice and are present in high frequency in humans

M. Brown, J. Reveille, A. Bassuk, 2019, bioRxiv.

Expanding the genetic landscape of Rett syndrome to include lysine acetyltransferase 6A (KAT6A).

J. Christodoulou, B. Kamien, D. Phelan, 2020, Journal of genetics and genomics = Yi chuan xue bao.

Stuttering associated with a pathogenic variant in the chaperone protein cyclophilin 40.

Emma L. Burrows, J. Gécz, F. Liégeois, 2023, Brain : a journal of neurology.