Associated Papers
Genomic and clinical characterization of adult CVID patients: results from a single-centre turkish cohort.
Yilmaz Tekinhatun H et al.
Immunologic Research, 2025
Evaluation of Ficolin-3 deficiency as a risk factor in the development of rheumatic heart disease.
Parker Z et al.
Bmc Research Notes, 2025
Validation of a comprehensive long-read sequencing platform for broad clinical genetic diagnosis.
Sen S et al.
Frontiers in Genetics, 2025
The landscape of rare genetic variants in familial Waldenström macroglobulinemia.
Pemov A et al.
Blood Neoplasia, 2024
Rare genetic variants involved in multisystem inflammatory syndrome in children: a multicenter Brazilian cohort study.
Reis BCSD et al.
Frontiers in Cellular and Infection Microbiology, 2023
Identification of recurrent pathogenic alleles using exome sequencing data: Proof-of-concept study of Russian subjects.
Orlov IE et al.
European Journal of Medical Genetics, 2022
Identification of candidate genes in a family with cancer overload by whole-exome sequencing.
Ödemiş DA et al.
The Turkish Journal of Pediatrics, 2022
MIS-C: A COVID-19-as sociated condition between hypoimmunity and hyperimmunity.
Gelzo M et al.
Frontiers in Immunology, 2022
Utilization of Whole Exome Sequencing in Non-Syndromic Premature Ovarian Failure: Ficolin-3 Gene Mutation in an Iranian Family
Mehrjooy S et al.
Iranian Biomedical Journal, 2021
The Human Gene Mutation Database (HGMD®): optimizing its use in a clinical diagnostic or research setting.
Stenson PD et al.
Human Genetics, 2020
A new case of congenital ficolin-3 deficiency with primary immunodeficiency.
Babaha F et al.
Expert Review of Clinical Immunology, 2020
The Impact of Whole Genome Data on Therapeutic Decision-Making in Metastatic Prostate Cancer: A Retrospective Analysis.
Crumbaker M et al.
Cancers, 2020
2020 CIS Annual Meeting: Immune Deficiency & Dysregulation North American Conference.
Unknown Author
Journal of Clinical Immunology, 2020
Reinterpretation of common pathogenic variants in ClinVar revealed a high proportion of downgrades.
Xiang J et al.
Scientific Reports, 2020
X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family.
Khan MJ et al.
Scientific Reports, 2018
Targeted next-generation sequencing as a comprehensive test for Mendelian diseases: a cohort diagnostic study.
Sun Y et al.
Scientific Reports, 2018
Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer.
Feliubadaló L et al.
Scientific Reports, 2017
Autozygome sequencing expands the horizon of human knockout research and provides novel insights into human phenotypic variation.
Alsalem AB et al.
Plos Genetics, 2013