Associated Papers
Prioritizing de novo potential non-canonical splicing variants in neurodevelopmental disorders.
Li K et al.
Ebiomedicine, 2024
38113761 (PubMed )
Supplement: mmc2.xlsx › Table_S4
TBL1XR1 associated intellectual disability, a new missense variant with dysmorphic features plus autism: Expanding the phenotypic spectrum.
Arroyo Carrera I et al.
Clinical Genetics, 2021
Genotype and Phenotype Correlations for TBL1XR1 in Neurodevelopmental Disorders.
Quan Y et al.
Journal of Molecular Neuroscience : Mn, 2020
TBL1XR1 mutations in Pierpont syndrome are not restricted to the recurrent p.Tyr446Cys mutation.
Lemattre C et al.
American Journal of Medical Genetics. Part A, 2018
A new syndrome of intellectual disability with dysmorphism due to TBL1XR1 deletion.
Pons L et al.
American Journal of Medical Genetics. Part A, 2015
De novo deletion of TBL1XR1 in a child with non-specific developmental delay supports its implication in intellectual disability.
Tabet AC et al.
American Journal of Medical Genetics. Part A, 2014
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