Associated Papers
Assessing Protein Surface-Based Scoring for Interpreting Genomic Variants.
Dsouza NR et al.
International Journal of Molecular Sciences, 2024
The spectrum of neurological presentation in individuals affected by TBL1XR1 gene defects.
Nagy A et al.
Orphanet Journal of Rare Diseases, 2024
Expanding the genotypic and phenotypic spectrum associated with TBL1XR1 de novo variants.
Ren M et al.
Gene, 2023
Analysis of exome data in a UK cohort of 603 patients with syndromic orofacial clefting identifies causal molecular pathways.
Wilson K et al.
Human Molecular Genetics, 2023
37010288 (PubMed )
Supplement: supptables_hmg-2022-ce-00520-r1_wilson_without_id_ddad023.xlsx › S4
An Aged/Autoimmune B-cell Program Defines the Early Transformation of Extranodal Lymphomas.
Venturutti L et al.
Cancer Discovery, 2023
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
Human B Lymphomas Reveal Their Secrets Through Genetic Mouse Models.
Mossadegh-Keller N et al.
Frontiers in Immunology, 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 Drive Extranodal Lymphoma by Inducing a Pro-tumorigenic Memory Fate.
Venturutti L et al.
Cell, 2020
Current clinical evidence does not support a link between TBL1XR1 and Rett syndrome: Description of one patient with Rett features and a novel mutation in TBL1XR1, and a review of TBL1XR1 phenotypes.
Zaghlula M et al.
American Journal of Medical Genetics. Part A, 2018
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
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
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