Associated Papers
A Phenotypic Paradigm for Cerebral Palsy Genetics.
Arterbery AS et al.
Medrxiv : the Preprint Server for Health Sciences, 2026
Two cases of TBL1XR1 heterozygous variants in children: a new splicing site variant identification and functional analysis through molecular docking and molecular dynamics simulation.
Xie Y et al.
Human Genomics, 2025
Clinical exome sequencing efficacy and phenotypic expansions involving non-isolated congenital anomalies of kidney and urinary tract (CAKUT+).
Rivera-Munoz EA et al.
European Journal of Human Genetics : Ejhg, 2025
Tumor evolution and immune microenvironment dynamics in primary and relapsed mantle cell lymphoma.
Wan H et al.
Cell Reports. Medicine, 2025
Different mutations in TBL1XR1 lead to diverse phenotypes of neurodevelopmental disorder: two case reports.
Wei L et al.
Bmc Medical Genomics, 2025
The implementation of genome sequencing in rare genetic diseases diagnosis: a pilot study from the Hong Kong genome project.
Lam WKJ et al.
The Lancet Regional Health. Western Pacific, 2025
Transcriptional Cofactors for Thyroid Hormone Receptors.
Ritter MJ et al.
Endocrinology, 2025
Analysis of genes differentially expressed in the cortex of mice with the Tbl1xr1Y446C/Y446C variant.
Hu Y et al.
Gene, 2024
Assessing Protein Surface-Based Scoring for Interpreting Genomic Variants.
Dsouza NR et al.
International Journal of Molecular Sciences, 2024
Testicular large B-cell lymphoma is genetically similar to PCNSL and distinct from nodal DLBCL.
Rivas-Delgado A et al.
Hemasphere, 2024
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
Multi-omics profiling of longitudinal samples reveals early genomic changes in follicular lymphoma.
Bai B et al.
Blood Cancer Journal, 2024
Novel mutation leading to splice donor loss in a conserved site of DMD gene causes Duchenne muscular dystrophy with cryptorchidism.
Chen J et al.
Journal of Medical Genetics, 2024
The spectrum of neurological presentation in individuals affected by TBL1XR1 gene defects.
Nagy A et al.
Orphanet Journal of Rare Diseases, 2024
Leukemic presentation and progressive genomic alterations of MCD/C5 diffuse large B-cell lymphoma (DLBCL).
Kim PM et al.
Cold Spring Harbor Molecular Case Studies, 2023
Expanding the genotypic and phenotypic spectrum associated with TBL1XR1 de novo variants.
Ren M et al.
Gene, 2023
The role of transducin β-like 1 X-linked receptor 1 (TBL1XR1) in thyroid hormone metabolism and action in mice.
Hu Y et al.
European Thyroid Journal, 2023
Unraveling the genetics of transformed splenic marginal zone lymphoma.
Grau M et al.
Blood Advances, 2023
A novel de novo pathogenic variant in TBL1XR1 as a new proposed cause of Pierpont syndrome.
Tamma PL et al.
American Journal of Medical Genetics. Part A, 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
A pilot study of the use of dynamic analysis of cell-free DNA from aqueous humor and vitreous fluid for the diagnosis and treatment monitoring of vitreoretinal lymphomas.
Wang X et al.
Haematologica, 2022
An animal model for Pierpont syndrome: a mouse bearing the Tbl1xr1Y446C/Y446C mutation.
Hu Y et al.
Human Molecular Genetics, 2022
Pierpont syndrome due to mutation c.1337A>G in TBL1XR1 gene.
Tesarova M et al.
Clinical Dysmorphology, 2022
Rare variant of TBL1XR1 in West syndrome: A case report.
Shen Y et al.
Molecular Genetics & Genomic Medicine, 2022
Diffuse large B-cell lymphomas in adults with aberrant coexpression of CD10, BCL6, and MUM1 are enriched in IRF4 rearrangements.
Frauenfeld L et al.
Blood Advances, 2022
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
Detection of Cancer Mutations by Urine Liquid Biopsy as a Potential Tool in the Clinical Management of Bladder Cancer Patients.
Ibrahim NK et al.
Cancers, 2022
Mutational landscape of marginal zone B-cell lymphomas of various origin: organotypic alterations and diagnostic potential for assignment of organ origin.
Vela V et al.
Virchows Archiv : an International Journal of Pathology, 2022
Circulating tumor DNA for comprehensive noninvasive monitoring of lymphoma treated with ibrutinib plus nivolumab.
Bruscaggin A et al.
Blood Advances, 2021
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
Pierpont syndrome-Report of a new patient.
Ismaili-Jaha V et al.
Clinical Case Reports, 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 Drive Extranodal Lymphoma by Inducing a Pro-tumorigenic Memory Fate.
Venturutti L et al.
Cell, 2020
The Molecular Basis of MeCP2 Function in the Brain.
Tillotson R et al.
Journal of Molecular Biology, 2020
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
15 years of PhosphoSitePlus®: integrating post-translationally modified sites, disease variants and isoforms.
Hornbeck PV et al.
Nucleic Acids Research, 2019
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
High-throughput sequencing of nodal marginal zone lymphomas identifies recurrent BRAF mutations.
Pillonel V et al.
Leukemia, 2018
On the verge of diagnosis: Detection, reporting, and investigation of de novo variants in novel genes identified by clinical sequencing.
Thiffault I et al.
Human Mutation, 2018
Novel GPR34 and CCR6 mutation and distinct genetic profiles in MALT lymphomas of different sites.
Moody S et al.
Haematologica, 2018
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
Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test.
Lionel AC et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 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
Diagnostic value of partial exome sequencing in developmental disorders.
Gieldon L et al.
Plos One, 2018
Pierpont syndrome: report of a new patient.
Kahlert AK et al.
Clinical Dysmorphology, 2017