Associated Papers
Whole Exome Sequencing Based Diagnostics in Complex Childhood Epilepsy Syndromes-A Cohort Study on Clinical Utility.
Fasaludeen A et al.
Clinical Genetics, 2026
Different mutations in TBL1XR1 lead to diverse phenotypes of neurodevelopmental disorder: two case reports.
Wei L et al.
Bmc Medical Genomics, 2025
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
Expanding the genotypic and phenotypic spectrum associated with TBL1XR1 de novo variants.
Ren M et al.
Gene, 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
Circulating tumor DNA mutation profile is associated with the prognosis and treatment response of Chinese patients with newly diagnosed diffuse large B-cell lymphoma.
Guan T et al.
Frontiers in Oncology, 2022
36465410 (PubMed )
Supplement: DataSheet_1.xlsx › Supplementary_table_3
Genetic profile of adult T-cell leukemia/lymphoma in Okinawa: Association with prognosis, ethnicity, and HTLV-1 strains.
Sakihama S et al.
Cancer Science, 2021
33426772 (PubMed )
Supplement: CAS-112-1300-s002.xlsx › Table_S4
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
High-throughput sequencing of nodal marginal zone lymphomas identifies recurrent BRAF mutations.
Pillonel V et al.
Leukemia, 2018
29556019 (PubMed )
Supplement: 41375_2018_82_MOESM10_ESM.xlsx › .
Novel Arthrogryposis Multiplex Congenita Presentation in a Newborn With Pierpont Syndrome.
Pereira-Nunes J et al.
Journal of Investigative Medicine High Impact Case Reports, 0
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