Associated Papers
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.
Laurie S et al.
Nature Medicine, 2025
39825153 (PubMed )
Supplement: 41591_2024_3420_MOESM3_ESM.xlsx › SuppTableS4.Disease_Causing
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
Unraveling the genetics of transformed splenic marginal zone lymphoma.
Grau M et al.
Blood Advances, 2023
36995085 (PubMed )
Supplement: BLOODA_ADV-2022-009415-mmc1.xlsx › ST7
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
Clinical genome sequencing in an unbiased pediatric cohort.
Thiffault I et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Novel GPR34 and CCR6 mutation and distinct genetic profiles in MALT lymphomas of different sites.
Moody S et al.
Haematologica, 2018
Variation in a range of mTOR-related genes associates with intracranial volume and intellectual disability.
Reijnders MRF et al.
Nature Communications, 2017
29051493 (PubMed )
Supplement: 41467_2017_933_MOESM5_ESM.xlsx › All_de_novo_mutations
Mutational analysis of primary central nervous system lymphoma.
Bruno A et al.
Oncotarget, 2014
24970810 (PubMed )
Supplement: oncotarget-05-5065-s001.xls › Table_S2
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