Associated Papers
Loss-of-function variations in solute carrier family 38 member 6 are associated with essential tremor.
Yuan Z et al.
Signal Transduction and Targeted Therapy, 2025
EZH2 loss promotes gastric squamous cell carcinoma.
Zhang M et al.
Nature Communications, 2025
Novel PLCZ1 mutation caused polyspermy during in vitro fertilization.
Tong KY et al.
Asian Journal of Andrology, 2024
Novel insights into tumorigenesis revealed by molecular analysis of Lynch syndrome cases with multiple colorectal tumors.
Olkinuora A et al.
Frontiers in Oncology, 2024
Whole-Exome Sequencing Analysis Identifies Risk Genes in Atlantoaxial Dislocation Patients with Sandwich Fusion.
Gao G et al.
Human Mutation, 2024
Dendritic Spine in Autism Genetics: Whole-Exome Sequencing Identifying De Novo Variant of CTTNBP2 in a Quad Family Affected by Autism Spectrum Disorder.
Xie Y et al.
Children (basel, Switzerland), 2022
The Identification by Exome Sequencing of Candidate Genes in BRCA-Negative Tunisian Patients at a High Risk of Hereditary Breast/Ovarian Cancer.
BenAyed-Guerfali D et al.
Genes, 2022
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
Mono- and biallelic germline variants of DNA glycosylase genes in colon adenomatous polyposis families from two continents.
Olkinuora AP et al.
Frontiers in Oncology, 2022
Whole-Exome Sequencing Reveals a Rare Variant of OTOF Gene Causing Congenital Non-syndromic Hearing Loss Among Large Muslim Families Favoring Consanguinity.
Fareed M et al.
Frontiers in Genetics, 2021
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
Clinical, genomics and networking analyses of a high-altitude native American Ecuadorian patient with congenital insensitivity to pain with anhidrosis: a case report.
López-Cortés A et al.
Bmc Medical Genomics, 2020
Influence of BRCA1 Germline Mutations in the Somatic Mutational Burden of Triple-Negative Breast Cancer.
Ferreira EN et al.
Translational Oncology, 2019
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
Genetic Characterization of Adenoid Cystic Carcinoma of the Minor Salivary Glands: A Potential Familial Occurrence in First-Degree Relatives.
Channir HI et al.
Head and Neck Pathology, 2017
A novel mutation of AFG3L2 might cause dominant optic atrophy in patients with mild intellectual disability.
Charif M et al.
Frontiers in Genetics, 2015
Whole exome sequencing of a single osteosarcoma case--integrative analysis with whole transcriptome RNA-seq data.
Reimann E et al.
Human Genomics, 2014