Author
Centre Hospitalier Régional Universitaire de Brest
Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.
3 papers
Recent·Most cited
Deepak Khatri, Audrey Putoux, Audric Cologne…·Marion Delous
The paper identifies a mutation in RNU4ATAC causing ciliary defects in patients with TALS/RFMN/LWS and Joubert syndrome, linking minor splicing defects to ciliary dysfunction.
Evin M. Padhi, Tristan J. Hayeck, Zhang Cheng…·Tychele N. Turner
Whole-genome sequencing in thousands of families reveals variants relevant to simplex autism in a brain enhancer of the well-established neurodevelopmental disorder gene EBF3.
Holly K. Harris, Tojo Nakayama, Jenny F. Lai…·Timothy W. Yu
The paper identifies RFX3, RFX4, and RFX7 mutations as causes of neurodevelopmental disorders including autism, ADHD, and intellectual disability, and links these genes to ASD risk genes through bioinformatic analysis.