Associated Papers
Integrated multi-omics analysis reveals the involvement of the gut-brain axis in children with autism.
Zhong H et al.
Frontiers in Microbiology, 2026
41716284 (PubMed )
Supplement: Supplementary_file_2.xlsx › Table_S1
CHEK1 variant is a risk factor for premature ovarian insufficiency by mis- regulating metabolism and inflammation-related genes.
Guo J et al.
Human Genomics, 2025
40533835 (PubMed )
Supplement: 40246_2025_774_MOESM4_ESM.xlsx › Sheet1
Identification of genetic factors underlying severe retinopathy of prematurity in preterm infants.
Sun H et al.
Molecular Vision, 2025
Novel insights into tumorigenesis revealed by molecular analysis of Lynch syndrome cases with multiple colorectal tumors.
Olkinuora A et al.
Frontiers in Oncology, 2024
38725616 (PubMed )
Supplement: Table_6.xlsx › Table_S6
Clinical and genomic features of non-small cell lung cancer occurring in families.
Miyabe S et al.
Thoracic Cancer, 2023
36869602 (PubMed )
Supplement: TCA-14-940-s001.xlsx › suppl.table3
Duchenne Muscular Dystrophy and Early Onset Hypertrophic Cardiomyopathy associated with Mutations in Dystrophin and Hypertrophic Cardiomyopathy-Associated Genes.
Aspit L et al.
Journal of Pediatric Genetics, 2022
First case report of complete paternal isodisomy of chromosome 10 harbouring a novel variant in COL17A1 that causes junctional epidermolysis bullosa intermediate.
Wang Y et al.
Bmc Medical Genomics, 2022
35717189 (PubMed )
Supplement: 12920_2022_1285_MOESM2_ESM.xlsx › Sheet1
Whole exome sequencing identified a novel POT1 variant as a candidate pathogenic allele underlying a Li-Fraumeni-like family.
Li Y et al.
Frontiers in Oncology, 2022
36387164 (PubMed )
Supplement: Table_1.xlsx › sheet1
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
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
Early Onset of Combined Oxidative Phosphorylation Deficiency in Two Chinese Brothers Caused by a Homozygous (Leu275Phe) Mutation in the C1QBP Gene.
Wang J et al.
Frontiers in Pediatrics, 2020
33344382 (PubMed )
Supplement: Table_2.XLSX › Result
Tumor mutation burden and recurrent tumors in hereditary lung cancer.
Hsu YC et al.
Cancer Medicine, 2019
30941903 (PubMed )
Supplement: CAM4-8-2179-s001.xlsx › S2
PRIMA-1MET-induced neuroblastoma cell death is modulated by p53 and mycn through glutathione level.
Mlakar V et al.
Journal of Experimental & Clinical Cancer Research : Cr, 2019
30755224 (PubMed )
Supplement: 13046_2019_1066_MOESM1_ESM.xlsx › CLB-GA
Clonal lineage of high grade serous ovarian cancer in a patient with neurofibromatosis type 1.
Norris EJ et al.
Gynecologic Oncology Reports, 2018
29892687 (PubMed )
Supplement: mmc1.pdf
Linking tuberous sclerosis complex, excessive mTOR signaling, and age-related neurodegeneration: a new association between TSC1 mutation and frontotemporal dementia.
Olney NT et al.
Acta Neuropathologica, 2017
28828560 (PubMed )
Supplement: 401_2017_1764_MOESM1_ESM.pdf
Mismatch repair deficiency endows tumors with a unique mutation signature and sensitivity to DNA double-strand breaks.
Zhao H et al.
Elife, 2014
25085081 (PubMed )
Supplement: elife02725s004.xlsx › Validation_results
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