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
Identification of Novel Genomic Variants in COVID-19 Patients Using Whole-Exome Sequencing: Exploring the Plausible Targets of Functional Genomics.
Mir R et al.
Biochemical Genetics, 2025
The PARP1 selective inhibitor saruparib (AZD5305) elicits potent and durable antitumor activity in patient-derived BRCA1/2-associated cancer models.
Herencia-Ropero A et al.
Genome Medicine, 2024
Waardenburg syndrome type 2 with a de novo variant of the SOX10 gene: a case report.
Li Y et al.
Bmc Medical Genomics, 2024
ACE Phenotyping in Human Blood and Tissues: Revelation of ACE Outliers and Sex Differences in ACE Sialylation.
Enyedi EE et al.
Biomedicines, 2024
Sodium Channel Gene Variants in Fetuses with Abnormal Sonographic Findings: Expanding the Prenatal Phenotypic Spectrum of Sodium Channelopathies.
Hadjipanteli A et al.
Genes, 2024
Early-onset hereditary isolated non-neurogenic orthostatic hypotension in a Swedish family.
Fagius J et al.
Clinical Autonomic Research : Official Journal of the Clinical Autonomic Research Society, 2023
Detection of germline variants with pathogenic potential in 48 patients with familial colorectal cancer by using whole exome sequencing.
Singh AK et al.
Bmc Medical Genomics, 2023
Molecular characterization of sub-frontal recurrent medulloblastomas reveals potential clinical relevance.
Chen Z et al.
Frontiers in Neurology, 2023
Whole-Genome Sequencing Identified KCNJ12 and SLC25A5 Mutations in Port-Wine Stains.
Chen K et al.
Frontiers in Medicine, 2022
A synergetic effect of BARD1 mutations on tumorigenesis.
Li W et al.
Nature Communications, 2021
A 300-kb microduplication of 7q36.3 in a patient with triphalangeal thumb-polysyndactyly syndrome combined with congenital heart disease and optic disc coloboma: a case report.
Zlotina A et al.
Bmc Medical Genomics, 2020
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
Rare Case of Ulnar-Mammary-Like Syndrome With Left Ventricular Tachycardia and Lack of TBX3 Mutation.
Zlotina A et al.
Frontiers in Genetics, 2018
Single-cell mRNA sequencing identifies subclonal heterogeneity in anti-cancer drug responses of lung adenocarcinoma cells.
Kim KT et al.
Genome Biology, 2015
A personalised medicine approach for ponatinib-resistant chronic myeloid leukaemia.
Korfi K et al.
Annals of Oncology : Official Journal of the European Society for Medical Oncology, 2015