Publications
Filters: Author is Besnard, Thomas [Clear All Filters]
PSMD11 loss-of-function variants correlate with a neurobehavioral phenotype, obesity, and increased interferon response. Am J Hum Genet. 2024 ;111(7):1352-1369.
. Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivity. Genet Med. 2021 ;23(10):1901-1911.
. Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway. Am J Hum Genet. 2019 ;104(2):213-228.
. Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability. Am J Hum Genet. 2019 ;104(3):530-541.
. De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder. Am J Hum Genet. 2017 ;100(2):352-363.
. De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder. Am J Hum Genet. 2017 ;101(5):716-724.
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