Publications

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Author Title [ Year(Desc)]
Filters: Author is Bernier, Raphael A  [Clear All Filters]
2017
Turner, T. N. et al. denovo-db: a compendium of human de novo variants. Nucleic Acids Res 45, D804-D811 (2017).
2018
Cheng, H. et al. Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies. Am J Hum Genet 102, 985-994 (2018).
2019
Guo, H. et al. Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders. Nat Commun 10, 4679 (2019).
Nellaker, C. et al. Enabling Global Clinical Collaborations on Identifiable Patient Data: The Minerva Initiative. Front Genet 10, 611 (2019).
Guo, H. et al. Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes. Genet Med 21, 1611-1620 (2019).