Associated Papers
Long read sequencing reveals novel genomic and epigenomic alterations in repetitive regions of high grade serous ovarian cancer.
Takamatsu S et al.
Scientific Reports, 2025
41168225 (PubMed )
Supplement: 41598_2025_21907_MOESM2_ESM.xlsx › SupTable_somatic_pathogenic_mut
Sodium Channel Gene Variants in Fetuses with Abnormal Sonographic Findings: Expanding the Prenatal Phenotypic Spectrum of Sodium Channelopathies.
Hadjipanteli A et al.
Genes, 2024
38255008 (PubMed )
Supplement: genes-15-00119-s001.zip › All_rare_variants_for_fetus_1__manuscript_supplementary_material_.xlsx › Variant_details
Novel compound heterozygous variants in lectin mannose-binding 2-like gene identified in a Chinese autosomal recessive mental retardation-52 (MRT52) patient with phenotype expansion.
Zhou C et al.
Chinese Medical Journal, 2023
37667433 (PubMed )
Supplement: cm9-136-2107-s002.xls › SHEET
Molecular characterization of sub-frontal recurrent medulloblastomas reveals potential clinical relevance.
Chen Z et al.
Frontiers in Neurology, 2023
37181548 (PubMed )
Supplement: Data_Sheet_2.xlsx › Germline_mutation-case_1
Mapping the genetic landscape of early-onset Alzheimer's disease in a cohort of 36 families.
Mol MO et al.
Alzheimer's Research & Therapy, 2022
35650585 (PubMed )
Supplement: 13195_2022_1018_MOESM1_ESM.xlsx › Table_S2_excluded_variants
Analysis of clinical characteristics and genetic testing in patients with acute fatty liver of pregnancy: a retrospective study.
Shi Y et al.
Bmc Pregnancy and Childbirth, 2021
34496798 (PubMed )
Supplement: 12884_2021_4095_MOESM3_ESM.xlsx › PASS_annova
Familial Temperature-Sensitive Auditory Neuropathy: Distinctive Clinical Courses Caused by Variants of the OTOF Gene.
Zhu YM et al.
Frontiers in Cell and Developmental Biology, 2021
34692690 (PubMed )
Supplement: Table_2.xlsx › Supplementary_Table_7
Integrated Genomic, Functional, and Prognostic Characterization of Atypical Chronic Myeloid Leukemia.
Fontana D et al.
Hemasphere, 2020
33196013 (PubMed )
Supplement: hs9-4-e497-s005.xlsx › Sheet1
Depletion of GPSM1 enhances ovarian granulosa cell apoptosis via cAMP-PKA-CREB pathway in vitro.
Cai X et al.
Journal of Ovarian Research, 2020
Whole exome sequencing identified mutations causing hearing loss in five consanguineous Pakistani families.
Zhou Y et al.
Bmc Medical Genetics, 2020
32682410 (PubMed )
Supplement: 12881_2020_1087_MOESM1_ESM.xlsx › HL1
Cronkhite-Canada syndrome complicated with three malignant tumors: a case report and whole exome sequencing analysis.
Liu S et al.
Chinese Medical Journal, 2019
31764169 (PubMed )
Supplement: cm9-132-3001-s001.xlsx › Supplementary_Table_1
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
Identification of Targetable Lesions in Anaplastic Thyroid Cancer by Genome Profiling.
Ravi N et al.
Cancers, 2019
30909364 (PubMed )
Supplement: cancers-11-00402-s001.zip › cancers-454918-suppl-final › cancers-454918-Table-S3.xlsx › Sheet1
Efficient Mining of Variants From Trios for Ventricular Septal Defect Association Study.
Jiang P et al.
Frontiers in Genetics, 2019
31440271 (PubMed )
Supplement: Table_1.xlsx › SS-based_coding_variants
Loss of human ICOSL results in combined immunodeficiency.
Roussel L et al.
The Journal of Experimental Medicine, 2018
30498080 (PubMed )
Supplement: JEM_20180668_TableS1.xlsx › SR5064319_min_10_reads_annotate
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
Signaling pathway screening platforms are an efficient approach to identify therapeutic targets in cancers that lack known driver mutations: a case report for a cancer of unknown primary origin.
Torres-Ayuso P et al.
Npj Genomic Medicine, 2018
29951225 (PubMed )
Supplement: 41525_2018_55_MOESM2_ESM.xls › Sup_File_1
Unique Features of Germline Variation in Five Egyptian Familial Breast Cancer Families Revealed by Exome Sequencing.
Kim YC et al.
Plos One, 2017
28076423 (PubMed )
Supplement: pone.0167581.s003.xlsx › Egyptian-specific
Thin and thick primary cutaneous melanomas reveal distinct patterns of somatic copy number alterations.
Montagnani V et al.
Oncotarget, 2016
27095580 (PubMed )
Supplement: oncotarget-07-30365-s002.pdf
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