Associated Papers
Multiancestry brain pQTL fine-mapping and integration with genome-wide association studies of 21 neurologic and psychiatric conditions.
Wingo AP et al.
Nature Genetics, 2025
Precision Grounding: Augmenting Large Language Models with Evidence-Based Databases for Trustworthy Genetic Variant Summarization.
Du X et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Excess of rare noncoding variants in several type 2 diabetes candidate genes among Asian Indian families.
Rout M et al.
Communications Medicine, 2025
The Association between PTPN22 SNPs and susceptibility to type 1 diabetes: An updated meta-analysis.
Su Y et al.
Plos One, 2025
Pharmacogenomics and genetic ancestry in Colombia: a study on all variant drug annotations of PharmGKB.
Acosta-Monterrosa AA et al.
Frontiers in Pharmacology, 2025
Population-specific putative causal variants shape quantitative traits.
Koyama S et al.
Nature Genetics, 2024
Single-cell exome sequencing reveals polyclonal seeding and TRPS1 mutations in colon cancer metastasis.
Cai J et al.
Signal Transduction and Targeted Therapy, 2024
Monogenic diabetes variants in Emirati women with gestational diabetes are associated with risk of non-autoimmune diabetes within 5 years after pregnancy.
Daggag H et al.
Metabolism Open, 2022
Maturity-Onset Diabetes of the Young: Mutations, Physiological Consequences, and Treatment Options.
Younis H et al.
Journal of Personalized Medicine, 2022
Determinants of trafficking, conduction, and disease within a K+ channel revealed through multiparametric deep mutational scanning.
Coyote-Maestas W et al.
Elife, 2022
Type 2 Diabetes-Related Variants Influence the Risk of Developing Prostate Cancer: A Population-Based Case-Control Study and Meta-Analysis.
Sánchez-Maldonado JM et al.
Cancers, 2022
Precision Diagnosis of Maturity-Onset Diabetes of the Young with Next-Generation Sequencing: Findings from the MODY-IST Study in Adult Patients.
Aydogan HY et al.
Omics : a Journal of Integrative Biology, 2022
The E23K Polymorphism of KCNJ11 and Diabetic Retinopathy in Northern Iran.
Alidoust L et al.
British Journal of Biomedical Science, 2022
Multidisciplinary In-Depth Investigation in a Young Athlete Suffering from Syncope Caused by Myocardial Bridge.
Brancaccio M et al.
Diagnostics (basel, Switzerland), 2021
Susceptibility to ischaemic heart disease: Focusing on genetic variants for ATP-sensitive potassium channel beyond traditional risk factors.
Severino P et al.
European Journal of Preventive Cardiology, 2021
Diabetes and Genetics: A Relationship Between Genetic Risk Alleles, Clinical Phenotypes and Therapeutic Approaches.
Sayed S et al.
Advances in Experimental Medicine and Biology, 2021
Significant variants of type 2 diabetes in the Arabian Region through an Integration of exome databases.
Goto K et al.
Plos One, 2021
Association of HLA-B Gene Polymorphisms with Type 2 Diabetes in Pashtun Ethnic Population of Khyber Pakhtunkhwa, Pakistan.
Jan A et al.
Journal of Diabetes Research, 2021
Whole exome sequencing reveals novel candidate gene variants for MODY.
Yalçın Çapan Ö et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2020
Discovery of 318 new risk loci for type 2 diabetes and related vascular outcomes among 1.4 million participants in a multi-ancestry meta-analysis.
Vujkovic M et al.
Nature Genetics, 2020
Deciphering genetic signatures by whole exome sequencing in a case of co-prevalence of severe renal hypouricemia and diabetes with impaired insulin secretion.
Sekiya M et al.
Bmc Medical Genetics, 2020
Neonatal diabetes caused by the heterozygous Pro1198Leu mutation in the ABCC8 gene in a male infant: 6-year clinical course.
Uraki S et al.
Journal of Diabetes Investigation, 2020
Assessment of pharmacogenomic SLCO1B1 assay for prediction of neuromuscular pain in type 2 diabetes mellitus and cardiovascular patients: preliminary results.
Licito A et al.
European Review for Medical and Pharmacological Sciences, 2020
The Identification of Admixture Patterns Could Refine Pharmacogenetic Counseling: Analysis of a Population-Based Sample in Mexico.
Martínez-Magaña JJ et al.
Frontiers in Pharmacology, 2020
Maturity-Onset Diabetes of the Young Identified Among Algerian Probands with Early-Onset Diabetes.
Bouldjennet F et al.
Diabetes, Metabolic Syndrome and Obesity : Targets and Therapy, 2020
Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 controls.
Flannick J et al.
Nature, 2019
Case Report: Identification of an HNF1B p.Arg527Gln mutation in a Maltese patient with atypical early onset diabetes and diabetic nephropathy.
Pace NP et al.
Bmc Endocrine Disorders, 2018
Whole exome sequencing in three families segregating a pediatric case of sarcoidosis.
Calender A et al.
Bmc Medical Genomics, 2018
Meta-analysis identifies common and rare variants influencing blood pressure and overlapping with metabolic trait loci.
Liu C et al.
Nature Genetics, 2016
A common variant within the HNF1B gene is associated with overall survival of multiple myeloma patients: results from the IMMEnSE consortium and meta-analysis.
Ríos-Tamayo R et al.
Oncotarget, 2016
Computational Analysis of Single Nucleotide Polymorphisms Associated with Altered Drug Responsiveness in Type 2 Diabetes.
Costa V et al.
International Journal of Molecular Sciences, 2016
Genetic polymorphisms of pharmacogenomic VIP variants in the Mongol of Northwestern China.
Jin T et al.
Bmc Genetics, 2016
Genetic Polymorphisms Analysis of Pharmacogenomic VIP Variants in Miao Ethnic Group of Southwest China.
Jin T et al.
Medical Science Monitor : International Medical Journal of Experimental and Clinical Research, 2015
Molecular and phenotypic characteristics of maturity-onset diabetes of the young compared with early onset type 2 diabetes in China.
Zhang M et al.
Journal of Diabetes, 2015
Genetic polymorphisms in very important pharmacogenomic (VIP) variants in the Tibetan population.
Jin TB et al.
Genetics and Molecular Research : Gmr, 2015
Type 2 diabetes-related variants influence the risk of developing multiple myeloma: results from the IMMEnSE consortium.
Ríos R et al.
Endocrine-related Cancer, 2015
Genetic polymorphisms of pharmacogenomic VIP variants in the Uygur population from northwestern China.
Wang L et al.
Bmc Genetics, 2015
Screening for Mutations in ABCC8 and KCNJ11 Genes in Saudi Persistent Hyperinsulinemic Hypoglycemia of Infancy (PHHI) Patients.
Adi A et al.
Genes, 2015
PPARD rs2016520 polymorphism affects repaglinide response in Chinese Han patients with type 2 diabetes mellitus.
Song JF et al.
Clinical and Experimental Pharmacology & Physiology, 2015
Pharmacogenomics of Drug Response in Type 2 Diabetes: Toward the Definition of Tailored Therapies?
Pollastro C et al.
Ppar Research, 2015
The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.
Tang X et al.
Nucleic Acids Research, 2014
CYP2C9, KCNJ11 and ABCC8 polymorphisms and the response to sulphonylurea treatment in type 2 diabetes patients.
Klen J et al.
European Journal of Clinical Pharmacology, 2014
Role of genetic polymorphisms of ion channels in the pathophysiology of coronary microvascular dysfunction and ischemic heart disease.
Fedele F et al.
Basic Research in Cardiology, 2013
Individualized therapy for type 2 diabetes: clinical implications of pharmacogenetic data.
Mannino GC et al.
Molecular Diagnosis & Therapy, 2012