Associated Papers
Identification of a Novel FLNC Truncating Variant in Fetal Tetralogy of Fallot: A Case Report and Review of the Literature.
Zhang Z et al.
Diagnostics (basel, Switzerland), 2025
41464097 (PubMed )
Supplement: diagnostics-15-03097-s001.zip › Table_S1.xlsx › Table_S1
Analysis of genetic predisposition to familial non-medullary thyroid cancer by whole genome sequencing.
Do Cao C et al.
Annales D'endocrinologie, 2025
MCM9 deficiency impairs DNA damage repair during spermatogenesis, leading to Sertoli cell-only syndrome in humans.
Sha X et al.
Cell Death Discovery, 2025
40593474 (PubMed )
Supplement: 41420_2025_2581_MOESM1_ESM.docx
Waardenburg syndrome type 2 with a de novo variant of the SOX10 gene: a case report.
Li Y et al.
Bmc Medical Genomics, 2024
38659011 (PubMed )
Supplement: 12920_2024_1877_MOESM2_ESM.xlsx › H12056928648
An approach for developing a blood-based screening panel for lung cancer based on clonal hematopoietic mutations.
Anandakrishnan R et al.
Plos One, 2024
39172974 (PubMed )
Supplement: pone.0307232.s001.zip › SI_Tables_v_7-19-2023.xlsx › S2._Pathogenic_var
Genomic profiling of a metastatic anaplastic melanocytic neuroectodermal tumor arising from a mature thymic teratoma as part of a mediastinal germ cell tumor.
Mayeur S et al.
Cold Spring Harbor Molecular Case Studies, 2023
37160315 (PubMed )
Supplement: supp_mcs.a006257_Supplemental_Material.pdf
Whole-exome sequencing of epithelial ovarian carcinomas differing in resistance to platinum therapy.
Hlaváč V et al.
Life Science Alliance, 2022
36229065 (PubMed )
Supplement: LSA-2022-01551_TableS16.xlsx › Table_S16
Clinical features, epidemiology, autoantibody status, HLA haplotypes and genetic mechanisms of type 1 diabetes mellitus among children in Qatar.
Haris B et al.
Scientific Reports, 2021
Identification of Genetic Predisposition in Noncirrhotic Portal Hypertension Patients With Multiple Renal Cysts by Integrated Analysis of Whole-Genome and Single-Cell RNA Sequencing.
Wu Y et al.
Frontiers in Genetics, 2021
34868264 (PubMed )
Supplement: Table2.XLSX › Sheet1
X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family.
Khan MJ et al.
Scientific Reports, 2018
30389958 (PubMed )
Supplement: 41598_2018_34262_MOESM2_ESM.xlsx › 2._minor_allele_frequency_1
Gene variations in autism spectrum disorder are associated with alteration of gut microbiota, metabolites and cytokines.
Liu Z et al.
Gut Microbes, 0
33412999 (PubMed )
Supplement: KGMI_A_1854967_SM8160.zip › Supplementary__files › Supplementary_Tables.xlsx › Table_S1
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