Publications

Stamberger, Hammer et al, NEXMIF encephalopathy: an X-linked disorder with male and female phenotype patterns. J Med Genet 2021;23(2):363-73. PMID: 33144681.

Samanta D, Willis E. KIAA2022-related disorders can cause Jeavons (eyelid myoclonia with absence) syndrome.Acta Neurol Belg. 2020;120(1):205–207. PMID: 29417424.

Gilbert J et al. NEXMIF/KIDLIA knock-out mouse demonstrates autism-like behaviors, memory deficits, and impairments in synapse formation and function.J Neurosci. 2020;40(1):237–254. PMID: 31704787.

Lambert N et al. Novel NEXMIF pathogenic variant in a boy with severe autistic features, intellectual disability, and epilepsy, and his mildly affected mother. J Hum Genet. 2018;63(7):847–850. PMID: 29717186.

de Lange IM et al. De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy.J Med Genet. 2016;53 (12):850–858. PMID: 27358180.

T. Ishikawa et al, Transient expression of Xpn, an XLMR protein related to neurite extension, during brain development and participation in neurite outgrowth. Neuroscience, 2012;214:181-191. PMID: 22531377.

Cantagrel V et al. Disruption of a new X linked gene highly expressed in brain in a family with two mentally retarded males. J Med Genet. 2004;41(10):736–742. PMID: 15466006.