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
The Genetic Landscape of Acute Necrotizing Encephalopathy: Insights Into the Possible Pathogenesis.
Geng C et al.
Journal of Clinical Neurology (seoul, Korea), 2025
Next-Generation Sequencing Identifies Novel Germline Mutations in Patients with Budd-Chiari Syndrome-Associated Hepatocellular Carcinoma.
Kumar S et al.
Digestive Diseases and Sciences, 2025
ACE Phenotyping in Human Blood and Tissues: Revelation of ACE Outliers and Sex Differences in ACE Sialylation.
Enyedi EE et al.
Biomedicines, 2024
Comparing rare variants versus common in the pathogenesis of nonalcoholic fatty liver disease: a whole exome sequencing approach.
Bale G et al.
Journal of Gastroenterology and Hepatology, 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
A synergetic effect of BARD1 mutations on tumorigenesis.
Li W et al.
Nature Communications, 2021
Deregulated Immune Pathway Associated with Palbociclib Resistance in Preclinical Breast Cancer Models: Integrative Genomics and Transcriptomics.
Pandey K et al.
Genes, 2021
Identification of Novel CDH23 Variants Causing Moderate to Profound Progressive Nonsyndromic Hearing Loss.
Ramzan K et al.
Genes, 2020
Dysregulated expression of androgen metabolism genes and genetic analysis in hypospadias.
Chen Z et al.
Molecular Genetics & Genomic Medicine, 2020
Genetic modifiers of long-term survival in sickle cell anemia.
Wonkam A et al.
Clinical and Translational Medicine, 2020
Cronkhite-Canada syndrome complicated with three malignant tumors: a case report and whole exome sequencing analysis.
Liu S et al.
Chinese Medical Journal, 2019
Familial Left Ventricular Non-Compaction Is Associated With a Rare p.V407I Variant in Bone Morphogenetic Protein 10.
Hirono K et al.
Circulation Journal : Official Journal of the Japanese Circulation Society, 2019
Revisiting Non-BRCA1/2 Familial Whole Exome Sequencing Datasets Implicates NCK1 as a Cancer Gene.
Yin J et al.
Frontiers in Genetics, 2019
Loss of human ICOSL results in combined immunodeficiency.
Roussel L et al.
The Journal of Experimental Medicine, 2018
Cardiac arrhythmia and neuroexcitability gene variants in resected brain tissue from patients with sudden unexpected death in epilepsy (SUDEP).
Friedman D et al.
Npj Genomic Medicine, 2018
Rare Case of Ulnar-Mammary-Like Syndrome With Left Ventricular Tachycardia and Lack of TBX3 Mutation.
Zlotina A et al.
Frontiers in Genetics, 2018
Family-specific, novel, deleterious germline variants provide a rich resource to identify genetic predispositions for BRCAx familial breast cancer.
Wen H et al.
Bmc Cancer, 2014