Associated Papers
Circadian ADCY3 Ser107Pro variant bridges difficulty awakening in the morning and adiposity.
Tchio C et al.
Iscience, 2026
Characterization of prevalent genetic variants in the Estonian Biobank body-mass index GWAS.
Abner E et al.
Nature Communications, 2025
ADCY3 Ser107Pro links difficulty awakening in the morning to adiposity through circadian regulation of adipose thermogenesis.
Tchio C et al.
Biorxiv : the Preprint Server for Biology, 2025
Genomic alterations in ovarian endometriosis and subsequently diagnosed ovarian carcinoma.
Linder A et al.
Human Reproduction (oxford, England), 2024
Whole exome sequencing and machine learning germline analysis of individuals presenting with extreme phenotypes of high and low risk of developing tobacco-associated lung adenocarcinoma.
Patiño-García A et al.
Ebiomedicine, 2024
Novel NARS2 variants in a patient with early-onset status epilepticus: case study and literature review.
Yang N et al.
Bmc Pediatrics, 2024
Genetics of metabolic traits in Greenlanders.
Thuesen ACB et al.
Danish Medical Journal, 2023
Maternal Age at Menarche Gene Polymorphisms Are Associated with Offspring Birth Weight.
Reshetnikova Y et al.
Life (basel, Switzerland), 2023
Bi-allelic mutation in SEC16B alters collagen trafficking and increases ER stress.
El-Gazzar A et al.
Embo Molecular Medicine, 2023
Expanding the prostate cancer cell line repertoire with ACRJ-PC28, an AR-negative neuroendocrine cell line derived from an African-Caribbean patient.
Valentine H et al.
Cancer Research Communications, 2022
Peptide ancestry informative markers in uterine neoplasms from women of European, African, and Asian ancestry.
Bateman NW et al.
Iscience, 2022
Molecular modelling of novel ADCY3 variant predicts a molecular target for tackling obesity.
Toumba M et al.
International Journal of Molecular Medicine, 2022
Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.
Sebate B et al.
Plos One, 2021
Integrated Genomic, Functional, and Prognostic Characterization of Atypical Chronic Myeloid Leukemia.
Fontana D et al.
Hemasphere, 2020
Identification of 31 loci for mammographic density phenotypes and their associations with breast cancer risk.
Sieh W et al.
Nature Communications, 2020
Characterizing rare and low-frequency height-associated variants in the Japanese population.
Akiyama M et al.
Nature Communications, 2019
Variations in maternal adenylate cyclase genes are associated with congenital Zika syndrome in a cohort from Northeast, Brazil.
Rossi ÁD et al.
Journal of Internal Medicine, 2019
Plasticity of Drug-Naïve and Vemurafenib- or Trametinib-Resistant Melanoma Cells in Execution of Differentiation/Pigmentation Program.
Czyz M et al.
Journal of Oncology, 2019
Genetics of metabolic traits in Greenlanders: lessons from an isolated population.
Andersen MK et al.
Journal of Internal Medicine, 2018
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
Loss-of-function mutations in ADCY3 cause monogenic severe obesity.
Saeed S et al.
Nature Genetics, 2018
Genetic Fine-Mapping and Identification of Candidate Genes and Variants for Adiposity Traits in Outbred Rats.
Keele GR et al.
Obesity (silver Spring, Md.), 2018
Discovery and fine-mapping of adiposity loci using high density imputation of genome-wide association studies in individuals of African ancestry: African Ancestry Anthropometry Genetics Consortium.
Ng MCY et al.
Plos Genetics, 2017
Uniparental disomy causes deficiencies of vitamin K-dependent proteins.
Dasi MA et al.
Journal of Thrombosis and Haemostasis : Jth, 2016
Three-dimensional modelling identifies novel genetic dependencies associated with breast cancer progression in the isogenic MCF10 model.
Maguire SL et al.
The Journal of Pathology, 2016
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.
Molnár J et al.
Plos One, 2016
Pooled Resequencing of 122 Ulcerative Colitis Genes in a Large Dutch Cohort Suggests Population-Specific Associations of Rare Variants in MUC2.
Visschedijk MC et al.
Plos One, 2016
Evaluation of Hybridization Capture Versus Amplicon-Based Methods for Whole-Exome Sequencing.
Samorodnitsky E et al.
Human Mutation, 2015
Identification of HPV integration and gene mutation in HeLa cell line by integrated analysis of RNA-Seq and MS/MS data.
Sun H et al.
Journal of Proteome Research, 2015
Genetic studies of body mass index yield new insights for obesity biology.
Locke AE et al.
Nature, 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
Meta-analysis identifies common variants associated with body mass index in east Asians.
Wen W et al.
Nature Genetics, 2012
Evaluation of the association between the AC3 genetic polymorphisms and obesity in a Chinese Han population.
Wang H et al.
Plos One, 2010
Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index.
Speliotes EK et al.
Nature Genetics, 2010