Andrea Seeley

De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome

Jung‐Hyun Kim, Deepali N. Shinde, Margot R.F. Reijnders et al. · The American Journal of Human Genetics · 2016 · 111 citations · Full text

Developmental Biology, Mendelian Disorder, Brain Development +11

Axenfeld-Rieger syndrome: more than meets the eye

Linda M. Reis, Mohit Maheshwari, Jenina Capasso et al. · Journal of Medical Genetics · 2022 · 67 citations · Full text

Paracentric Inversion of Chromosome 21 Leading to Disruption of the HLCS Gene in a Family with Holocarboxylase Synthetase Deficiency

Shane C. Quinonez, Andrea Seeley, Cindy Lam et al. · JIMD Reports · 2016 · 39 citations

PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production

Frédéric Ebstein, Sébastien Küry, Victoria Most et al. · Science Translational Medicine · 2023 · 34 citations · Full text

GATAD2B-associatedneurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-relateddisorder

Christine Shieh, Natasha Jones, Brigitte Vanle et al. · Genetics in Medicine · 2020 · 33 citations · Full text

Neurodevelopmental Disorders, Developmental Biology, Gatad2b-associatedneurodevelopmental Disorder +6