Associated Papers
Population-specific putative causal variants shape quantitative traits.
Koyama S et al.
Nature Genetics, 2024
Genomic characteristics and immune landscape of super multiple primary lung cancer.
Yang Z et al.
Ebiomedicine, 2024
FinnGen provides genetic insights from a well-phenotyped isolated population.
Kurki MI et al.
Nature, 2023
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
Functional Regulation of KATP Channels and Mutant Insight Into Clinical Therapeutic Strategies in Cardiovascular Diseases.
Wang Z et al.
Frontiers in Pharmacology, 2022
An open approach to systematically prioritize causal variants and genes at all published human GWAS trait-associated loci.
Mountjoy E et al.
Nature Genetics, 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
Progress in Defining the Genetic Contribution to Type 2 Diabetes in Individuals of East Asian Ancestry.
Spracklen CN et al.
Current Diabetes Reports, 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
Integrated Genomic, Functional, and Prognostic Characterization of Atypical Chronic Myeloid Leukemia.
Fontana D et al.
Hemasphere, 2020
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
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
Glimepiride treatment in a patient with type A insulin resistance syndrome due to a novel heterozygous missense mutation in the insulin receptor gene.
Huang Z et al.
Journal of Diabetes Investigation, 2018
Whole exome sequencing in three families segregating a pediatric case of sarcoidosis.
Calender A et al.
Bmc Medical Genomics, 2018
Exome sequencing-based identification of novel type 2 diabetes risk allele loci in the Qatari population.
O'Beirne SL et al.
Plos One, 2018
Genome-wide association study identifies 112 new loci for body mass index in the Japanese population.
Akiyama M et al.
Nature Genetics, 2017
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
ABCC8 R1420H Loss-of-Function Variant in a Southwest American Indian Community: Association With Increased Birth Weight and Doubled Risk of Type 2 Diabetes.
Baier LJ et al.
Diabetes, 2015
Genetic fine mapping and genomic annotation defines causal mechanisms at type 2 diabetes susceptibility loci.
Gaulton KJ et al.
Nature Genetics, 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
Screening for Mutations in ABCC8 and KCNJ11 Genes in Saudi Persistent Hyperinsulinemic Hypoglycemia of Infancy (PHHI) Patients.
Adi A et al.
Genes, 2015
Population specific impact of genetic variants in KCNJ11 gene to type 2 diabetes: a case-control and meta-analysis study.
Phani NM et al.
Plos One, 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
Detection of KCNJ11 gene mutations in a family with neonatal diabetes mellitus: implications for therapeutic management of family members with long-standing disease.
Abbasi F et al.
Molecular Diagnosis & Therapy, 2012
Identification of two novel frameshift mutations in the KCNJ11 gene in two Italian patients affected by Congenital Hyperinsulinism of Infancy.
Biagiotti L et al.
Experimental and Molecular Pathology, 2007
An ATP-binding mutation (G334D) in KCNJ11 is associated with a sulfonylurea-insensitive form of developmental delay, epilepsy, and neonatal diabetes.
Masia R et al.
Diabetes, 2007
The relationship between the pharmacology of antiepileptic drugs and human gene variation: an overview.
Ferraro TN et al.
Epilepsy & Behavior : E&b, 2005