Amanda Moccia

Mutations in Citron Kinase Cause Recessive Microlissencephaly with Multinucleated Neurons

Brian Harding, Amanda Moccia, Séverine Drunat et al. · The American Journal of Human Genetics · 2016 · 71 citations · Full text

Life Sciences, Genetics, Neuroscience +8

Genetic analysis of CHARGE syndrome identifies overlapping molecular biology

Amanda Moccia, Anshika Srivastava, Jennifer Skidmore et al. · Genetics in Medicine · 2018 · 66 citations · Full text

Life Sciences, Genetics, Molecular Biology +5

Genotype-phenotype correlations in individuals with pathogenic<i>RERE</i>variants

Valerie K. Jordan, Brieana Fregeau, Xiaoyan Ge et al. · Human Mutation · 2018 · 57 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Dysregulation of cotranscriptional alternative splicing underlies CHARGE syndrome

Catherine Bélanger, Félix-Antoine Bérubé-Simard, Elizabeth H. Leduc et al. · Proceedings of the National Academy of Sciences · 2018 · 43 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Molecular and functional heterogeneity in dorsal and ventral oligodendrocyte progenitor cells of the mouse forebrain in response to DNA damage

Enrica Boda, Martina Lorenzati, Roberta Parolisi et al. · Nature Communications · 2022 · 27 citations · Full text

Life Sciences, Cell Biology, Neuroscience +17