Associated Papers
Whole genome sequencing in adolescent idiopathic scoliosis cohort implicates multiple biological pathways.
Tuncay IO et al.
Npj Genomic Medicine, 2025
41073408 (PubMed )
Supplement: 41525_2025_520_MOESM2_ESM.xlsx › Supplementary_Data_1
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
40791678 (PubMed )
Supplement: media-2.xlsx › Table_S12_ClinVar_PLP_variants
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
40893834 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_3
Burden of Mendelian disorders in a large Middle Eastern biobank.
Aamer W et al.
Genome Medicine, 2024
38584274 (PubMed )
Supplement: 13073_2024_1307_MOESM1_ESM.xlsx › Table_S3
TREX tetramer disruption alters RNA processing necessary for corticogenesis in THOC6 Intellectual Disability Syndrome.
Werren EA et al.
Nature Communications, 2024
Mechanisms of mRNA processing defects in inherited THOC6 intellectual disability syndrome.
Werren E et al.
Research Square, 2023
Implementation of Exome Sequencing in Prenatal Diagnostics: Chances and Challenges.
Janicki E et al.
Diagnostics (basel, Switzerland), 2023
Biallelic THOC6 pathogenic variants: Prenatal phenotype and review of the literature.
Ruaud L et al.
Birth Defects Research, 2022
First report of THOC6 related intellectual disability (Beaulieu Boycott Innes syndrome) in two siblings from India.
Gupta N et al.
European Journal of Medical Genetics, 2020
Clinical and functional characterization of recurrent missense variants implicated in THOC6-related intellectual disability.
Mattioli F et al.
Human Molecular Genetics, 2019
Beaulieu-Boycott-Innes syndrome: an intellectual disability syndrome with characteristic facies.
Casey J et al.
Clinical Dysmorphology, 2016
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