Associated Papers
Longitudinal genomic profiling of chemotherapy-related CHIP variants in patients with ovarian cancer.
Corvigno S et al.
Frontiers in Oncology, 2025
40365343 (PubMed )
Supplement: Table9.xlsx › Supplementary_Table_9
Genetic analysis of non-syndromic peg lateralis using whole-exome sequencing.
Choi J et al.
Frontiers in Genetics, 2025
40881174 (PubMed )
Supplement: Table1.xlsx › supplementary_table_1
Utilization of next-generation sequencing to define the role of heterozygous FOXN1 variants in immunodeficiency.
Pasternak Y et al.
The Journal of Allergy and Clinical Immunology. Global, 2024
38800615 (PubMed )
Supplement: mmc2.xlsx › P4-potential_comp.het.
Pathogenic variants in SLF2 and SMC5 cause segmented chromosomes and mosaic variegated hyperploidy.
Grange LJ et al.
Nature Communications, 2022
36333305 (PubMed )
Supplement: 41467_2022_34349_MOESM6_ESM.xlsx › Supplementary_Data_3
The Genetic Landscape of Ocular Adnexa MALT Lymphoma Reveals Frequent Aberrations in NFAT and MEF2B Signaling Pathways.
Magistri M et al.
Cancer Research Communications, 2021
35528192 (PubMed )
Supplement: crc-21-0022-s03.xlsx › HCandMUTECT_variants_mutrate10g
Genome-wide CRISPR screens reveal synthetic lethal interaction between CREBBP and EP300 in diffuse large B-cell lymphoma.
Nie M et al.
Cell Death & Disease, 2021
33911074 (PubMed )
Supplement: 41419_2021_3695_MOESM9_ESM.xlsx › S2._Mutations_in_RC-K8
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
KIAA1109 gene mutation in surviving patients with Alkuraya-Kučinskas syndrome: a review of literature.
Kumar K et al.
Bmc Medical Genetics, 2020
32590954 (PubMed )
Supplement: 12881_2020_1074_MOESM1_ESM.xlsx › Sheet1
POT1 and Damage Response Malfunction Trigger Acquisition of Somatic Activating Mutations in the VEGF Pathway in Cardiac Angiosarcomas.
Calvete O et al.
Journal of the American Heart Association, 2019
Renal hypouricemia caused by novel compound heterozygous mutations in the SLC22A12 gene: a case report with literature review.
Zhou Z et al.
Bmc Medical Genetics, 2018
30097038 (PubMed )
Supplement: 12881_2018_595_MOESM1_ESM.xlsx › Sheet2
Exome and copy number variation analyses of Mayer-Rokitansky-Küster- Hauser syndrome.
Takahashi K et al.
Human Genome Variation, 2018
30302266 (PubMed )
Supplement: 41439_2018_28_MOESM5_ESM.xlsx › Sheet1
XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.
Talukder AK et al.
Plos One, 2015
25905921 (PubMed )
Supplement: pone.0123569.s008.xls › BC9_ERR166333
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