Associated Papers
Novel Biallelic INTS1 Variants May Expand the Phenotypic Spectrum of INTS1-Related Disorders-Case Report and Literature Review.
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Genes, 2025
Non-isolated tetralogy of fallot (TOF+): exome sequencing efficacy and phenotypic expansions.
Volpi J et al.
European Journal of Human Genetics : Ejhg, 2025
40796658 (PubMed )
Supplement: 41431_2025_1916_MOESM1_ESM.xlsx › S1_SNV_Data
A deleterious variant of INTS1 leads to disrupted sleep-wake cycles.
Confino S et al.
Disease Models & Mechanisms, 2024
39189071 (PubMed )
Supplement: dmm-17-050746-TableS2.xlsx › Sheet1
Application of full-genome analysis to diagnose rare monogenic disorders.
Shieh JT et al.
Npj Genomic Medicine, 2021
Rare Tumor-Normal Matched Whole Exome Sequencing Identifies Novel Genomic Pathogenic Germline and Somatic Aberrations.
Sprissler R et al.
Cancers, 2020
32570879 (PubMed )
Supplement: cancers-12-01618-s001.zip › cancers-817200-Supplementary_Materials3 › Supplementary_table_S1.xlsx › Oncogenes
Biallelic sequence variants in INTS1 in patients with developmental delays, cataracts, and craniofacial anomalies.
Krall M et al.
European Journal of Human Genetics : Ejhg, 2019
Two nonsense somatic mutations in MEN1 identified in sporadic insulinomas.
Qi C et al.
Febs Open Bio, 2018
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