Corrine Smolen

Generation and characterization of Ccdc28b mutant mice links the Bardet-Biedl associated gene with mild social behavioral phenotypes

N. Lago, S. Girirajan, J. Badano, 2021, bioRxiv.

Generation and characterization of Ccdc 28 b mutant mice 2 links the Bardet-Biedl associated gene with social behavioral 3 phenotypes 4

N. Lago, J. Badano, Victoria Prieto-Echagüe, 2022 .

Assortative mating and parental genetic relatedness contribute to the pathogenicity of variably expressive variants.

M. Fichera, S. Girirajan, C. Bénéteau, 2023, American journal of human genetics.

Assortative mating and parental genetic relatedness drive the pathogenicity of variably expressive variants

P. Lockhart, M. Fichera, C. Romano, 2023, medRxiv.

Scn8a Antisense Oligonucleotide Is Protective in Mouse Models of SCN8A Encephalopathy and Dravet Syndrome

Jacy L. Wagnon, J. Parent, M. Meisler, 2020, Annals of neurology.

Spontaneous seizures and elevated seizure susceptibility in response to somatic mutation of sodium channel Scn8a in the mouse

M. Meisler, Wenxi Yu, Sophie F. Hill, 2021, Human molecular genetics.