Associated Papers
Gene4Denovo2: an updated platform for human de novo mutations discovery and interpretation.
Zhu Z et al.
Nucleic Acids Research, 2026
41024706 (PubMed )
Supplement: gkaf980_supplemental_files.zip › Table_S1._WGS_or_WES_studies_regarding_to_DNMs_in_Gene4Denovo2.docx
A TMEM260 Biallelic Deletion Underlies Truncus Arteriosus.
Enomoto Y et al.
Molecular Syndromology, 2025
A Prevalent TMEM260 Deletion Causes Conotruncal Heart Defects, Including Truncus Arteriosus.
Saijo N et al.
American Journal of Medical Genetics. Part A, 2025
Genetic etiology of truncus arteriosus excluding 22q11.2 deletion syndrome and identification of c.1617del, a prevalent variant in TMEM260, in the Japanese population.
Yaoita H et al.
Journal of Human Genetics, 2024
The c.1617del variant of TMEM260 is identified as the most frequent single gene determinant for Japanese patients with a specific type of congenital heart disease.
Inoue T et al.
Journal of Human Genetics, 2024
Correction: The c.1617del variant of TMEM260 is identified as the most frequent single gene determinant for Japanese patients with a specific type of congenital heart disease.
Inoue T et al.
Journal of Human Genetics, 2024
Correction: Genetic etiology of truncus arteriosus excluding 22q11.2 deletion syndrome and identification of c.1617del, a prevalent variant in TMEM260, in the Japanese population.
Yaoita H et al.
Journal of Human Genetics, 2024
Human Genetics of Truncus Arteriosus.
Yamagishi H
Advances in Experimental Medicine and Biology, 2024
PHACES-like syndrome with TMEM260 compound heterozygous variants.
Kuroda Y et al.
American Journal of Medical Genetics. Part A, 2023
A case of Wiedemann-Steiner syndrome caused by a novel KMT2A c.8862del variant.
Nishida H et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 0
39840671 (PubMed )
Supplement: supplement_1.docx
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