Publications

Dupont J et al. Adding evidence to the role of NEUROG1 in congenital cranial dysinnervation disorders. Clin Genet. 2021;99:588-593. PMID: 33439489.

Schröder JC et al. A boy with homozygous microdeletion of NEUROG1 presents with a congenital cranial dysinnervation disorder [Moebius syndrome variant]. Behav Brain Funct.2013;9:7. PMID: 23419067.

Sheth F et al. A novel case of two siblings harbouring homozygous variant in the NEUROG1 gene with autism as an additional phenotype: a case report. BMC Neurol. 2023;23(1):20. PMID: 36647078.

Yavarna T et al. High diagnostic yield of clinical exome sequencing in middle eastern patients with Mendelian disorders. Hum Genet. 2015;134(9):967-980. PMID: 26077850.