Associated Papers
CRISPR-Cas9-Generated TXNDC15 c.560delA Homozygous Mouse Model Exhibits Meckel-Gruber Syndrome Phenotype.
Liu Y et al.
Genesis (new York, N.y. : 2000), 2026
Biallelic TXNDC15 variants associated with Joubert syndrome-related molar tooth sign and forebrain malformation.
Kuroda Y et al.
Journal of Human Genetics, 2025
TXNDC15, an ER-localized thioredoxin-like transmembrane protein, contributes to ciliary transition zone integrity.
Yamazaki S et al.
Journal of Cell Science, 2024
First preimplantation genetic testing case of Meckel syndrome with a novel homozygous TXNDC15 variant in a non-consanguineous Chinese family.
Xu H et al.
Molecular Genetics & Genomic Medicine, 2024
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L et al.
Nature Communications, 2023
37644014 (PubMed )
Supplement: 41467_2023_40909_MOESM10_ESM.xlsx › Sheet1
Lethal variants in humans: lessons learned from a large molecular autopsy cohort.
Shamseldin HE et al.
Genome Medicine, 2021
34645488 (PubMed )
Supplement: 13073_2021_973_MOESM1_ESM.xlsx › Sheet1
Survey of disorders of sex development in a large cohort of patients with diverse Mendelian phenotypes.
Abualsaud D et al.
American Journal of Medical Genetics. Part A, 2021
Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics.
Maddirevula S et al.
Genome Biology, 2020
32552793 (PubMed )
Supplement: 13059_2020_2053_MOESM3_ESM.xlsx › Table_S2
Meckel syndrome: Clinical and mutation profile in six fetuses.
Radhakrishnan P et al.
Clinical Genetics, 2019
A prenatally diagnosed case of Meckel-Gruber syndrome with novel compound heterozygous pathogenic variants in the TXNDC15 gene.
Ridnõi K et al.
Molecular Genetics & Genomic Medicine, 2019
Characterizing the morbid genome of ciliopathies.
Shaheen R et al.
Genome Biology, 2016
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