Associated Papers
O-GlcNAc transferase congenital disorder of glycosylation (OGT-CDG): Potential mechanistic targets revealed by evaluating the OGT interactome.
Mayfield JM et al.
The Journal of Biological Chemistry, 2024
Characterizing Sensory Phenotypes of Subgroups with a Known Genetic Etiology Pertaining to Diagnoses of Autism Spectrum Disorder and Intellectual Disability.
Hudac CM et al.
Journal of Autism and Developmental Disorders, 2024
Prioritizing de novo potential non-canonical splicing variants in neurodevelopmental disorders.
Li K et al.
Ebiomedicine, 2024
Expanding the genotypic and phenotypic spectrum associated with TBL1XR1 de novo variants.
Ren M et al.
Gene, 2023
Identification of Neurotransmission and Synaptic Biological Processes Disrupted in Autism Spectrum Disorder Using Interaction Networks and Community Detection Analysis.
Vilela J et al.
Biomedicines, 2023
Rare variant of TBL1XR1 in West syndrome: A case report.
Shen Y et al.
Molecular Genetics & Genomic Medicine, 2022
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
TBL1XR1 Ensures Balanced Neural Development Through NCOR Complex-Mediated Regulation of the MAPK Pathway.
Mastrototaro G et al.
Frontiers in Cell and Developmental Biology, 2021
Genotype and Phenotype Correlations for TBL1XR1 in Neurodevelopmental Disorders.
Quan Y et al.
Journal of Molecular Neuroscience : Mn, 2020
Nuclear receptor corepressors in intellectual disability and autism.
Kong Y et al.
Molecular Psychiatry, 2020
Nuclear Receptor Coactivators (NCOAs) and Corepressors (NCORs) in the Brain.
Sun Z et al.
Endocrinology, 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
Systematic reconstruction of autism biology from massive genetic mutation profiles.
Luo W et al.
Science Advances, 2018
Expanding the spectrum of TBL1XR1 deletion: Report of a patient with brain and cardiac malformations.
Vaqueiro AC et al.
European Journal of Medical Genetics, 2018
Pierpont syndrome associated with the p.Tyr446Cys missense mutation in TBL1XR1.
Slavotinek A et al.
European Journal of Medical Genetics, 2017
De novo non-synonymous TBL1XR1 mutation alters Wnt signaling activity.
Nishi A et al.
Scientific Reports, 2017
Structure of the MeCP2-TBLR1 complex reveals a molecular basis for Rett syndrome and related disorders.
Kruusvee V et al.
Proceedings of the National Academy of Sciences of the United States of America, 2017
The mutational landscape of ocular marginal zone lymphoma identifies frequent alterations in TNFAIP3 followed by mutations in TBL1XR1 and CREBBP.
Jung H et al.
Oncotarget, 2017
De novo genic mutations among a Chinese autism spectrum disorder cohort.
Wang T et al.
Nature Communications, 2016
A specific mutation in TBL1XR1 causes Pierpont syndrome.
Heinen CA et al.
Journal of Medical Genetics, 2016
Integrating population variation and protein structural analysis to improve clinical interpretation of missense variation: application to the WD40 domain.
Laskowski RA et al.
Human Molecular Genetics, 2016
A new syndrome of intellectual disability with dysmorphism due to TBL1XR1 deletion.
Pons L et al.
American Journal of Medical Genetics. Part A, 2015
Recurrent de novo mutations implicate novel genes underlying simplex autism risk.
O'Roak BJ et al.
Nature Communications, 2014
A girl with West syndrome and autistic features harboring a de novo TBL1XR1 mutation.
Saitsu H et al.
Journal of Human Genetics, 2014
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
Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders.
O'Roak BJ et al.
Science (new York, N.y.), 2012
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.
O'Roak BJ et al.
Nature, 2012