Thomas Courtin

Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior

Holly K. Harris, Tojo Nakayama, Jenny Lai et al. · Genetics in Medicine · 2021 · 79 citations · Full text

Neurodevelopmental Disorders, Syndromic Autism, Medicine +13

Characterization of Recessive Parkinson Disease in a Large Multicenter Study

Suzanne Lesage, Ariane Lunati, Marion Houot et al. · Annals of Neurology · 2020 · 77 citations · Full text

Incomplete annotation has a disproportionate impact on our understanding of Mendelian and complex neurogenetic disorders

David Zhang, Sebastian Guelfi, Sonia García-Ruiz et al. · Science Advances · 2020 · 68 citations · Full text

Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases

Paul C. Marcogliese, Samantha L. Deal, Jonathan C. Andrews et al. · Cell Reports · 2022 · 51 citations · Full text

Neurodevelopmental Disorders, Developmental Biology, Syndromic Autism +10

Genotype–phenotype correlation in PRKN-associated Parkinson’s disease

Poornima Jayadev Menon, Sara Sambin, Baptiste Crinière‐Boizet et al. · npj Parkinson s Disease · 2024 · 51 citations · Full text