Associated Papers
Ancestry-dependent patterns of somatic mosaicism and clonal hematopoiesis mutations in over 125,000 individuals reveal distinct cancer associations.
Colin-Leitzinger C et al.
Human Genomics, 2025
Clonal hematopoiesis in apparent treatment-resistant hypertension, insights from multiple medical centers and community-based cohorts.
Lv C et al.
Nature Aging, 2025
Benign fibro-osseous lesions of the cranio-maxillofacial bones: an updated review with special emphasis on molecular pathogenesis.
Pandiar D et al.
Journal of Bone and Mineral Metabolism, 2025
Targeting tumoral heterogeneity in lung cancer: a novel, CT-texture-guided targeted biopsy approach with exome sequencing.
Hertel A et al.
Npj Precision Oncology, 2025
Comparison of somatic variant oncogenicity classification using ClinGen/CGC/VICC guidelines and QIAGEN Clinical Insight Interpret decision support software.
Goverdhan A et al.
Cancer Genetics, 2025
Clonal Hematopoiesis of Indeterminate Potential Is Associated With Incident Abdominal Aortic Aneurysm.
Tan Y et al.
Arteriosclerosis, Thrombosis, and Vascular Biology, 2025
Clonal hematopoiesis is associated with distinct rheumatoid arthritis phenotypes.
Hiitola E et al.
Science Advances, 2025
Peripheral blood somatic mosaicism and clonal hematopoiesis across ancestry backgrounds.
Colin-Leitzinger C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Genetic variants of accessory proteins and G proteins in human genetic disease.
Thompson MD et al.
Critical Reviews in Clinical Laboratory Sciences, 2025
Comparative analysis of the Mexico City Prospective Study and the UK Biobank identifies ancestry-specific effects on clonal hematopoiesis.
Wen S et al.
Nature Genetics, 2025
Identification of Novel and Rare GNAS Mutations in Craniofacial Fibrous Dysplasia.
Xue J et al.
Journal of Oral Pathology & Medicine : Official Publication of the International Association of Oral Pathologists and the American Academy of Oral Pathology, 2025
Exploring mutations: GNAS and CDC73 in jaw fibroosseous lesions.
Jot K et al.
Pathology, Research and Practice, 2024
Identification of Clonal Hematopoiesis Driver Mutations through In Silico Saturation Mutagenesis.
Demajo S et al.
Cancer Discovery, 2024
Genetic characterization of intramuscular myxomas.
Hatchett WJ et al.
Pathology Oncology Research : Por, 2024
Mining cancer genomes for change-of-metabolic-function mutations.
Tu KJ et al.
Communications Biology, 2023
A Rare Skeletal Disorder, Fibrous Dysplasia: A Review of Its Pathogenesis and Therapeutic Prospects.
Kim HY et al.
International Journal of Molecular Sciences, 2023
Rare variant associations with plasma protein levels in the UK Biobank.
Dhindsa RS et al.
Nature, 2023
Activation of melanocortin-1 receptor signaling in melanoma cells impairs T cell infiltration to dampen antitumor immunity.
Cui Y et al.
Nature Communications, 2023
CC Genotype of GNAS c.393C>T (rs7121) Polymorphism Has a Protective Effect against Development of BK Viremia and BKV-Associated Nephropathy after Renal Transplant
Peitz T et al.
Pathogens (basel, Switzerland), 2022
Cancer-driving mutations are enriched in genic regions intolerant to germline variation.
Vitsios D et al.
Science Advances, 2022
The genetic landscape of pancreatic head ductal adenocarcinoma in China and prognosis stratification.
Yang Y et al.
Bmc Cancer, 2022
Clinicopathological and genetic study of a rare occurrence: Malignant transformation of fibrous dysplasia of the jaws.
Shi R et al.
Molecular Genetics & Genomic Medicine, 2022
KRAS/GNAS-testing by highly sensitive deep targeted next generation sequencing improves the endoscopic ultrasound-guided workup of suspected mucinous neoplasms of the pancreas.
Schmitz D et al.
Genes, Chromosomes & Cancer, 2021
Genomic profiling reveals high frequency of DNA repair genetic aberrations in gallbladder cancer.
Abdel-Wahab R et al.
Scientific Reports, 2020
Targeted next generation sequencing of MLH1-deficient, MLH1 promoter hypermethylated, and BRAF/RAS-wild-type colorectal adenocarcinomas is effective in detecting tumors with actionable oncogenic gene fusions.
Vaňková B et al.
Genes, Chromosomes & Cancer, 2020
Inherited causes of clonal haematopoiesis in 97,691 whole genomes.
Bick AG et al.
Nature, 2020
Identification of novel GNAS mutations in intramuscular myxoma using next-generation sequencing with single-molecule tagged molecular inversion probes.
Bekers EM et al.
Diagnostic Pathology, 2019
Interpreting whole genome and exome sequencing data of individual gastric cancer samples.
Esser D et al.
Bmc Genomics, 2017
Frequency of GNAS R201H substitution mutation in polyostotic fibrous dysplasia: Pyrosequencing analysis in tissue samples with or without decalcification.
Shin SJ et al.
Scientific Reports, 2017
GNAS Mutations in Fibrous Dysplasia: A Comparative Study of Standard Sequencing and Locked Nucleic Acid PCR Sequencing on Decalcified and Nondecalcified Formalin-fixed Paraffin-embedded Tissues.
Jour G et al.
Applied Immunohistochemistry & Molecular Morphology : Aimm, 2016
Diagnostic value of H3F3A mutations in giant cell tumour of bone compared to osteoclast-rich mimics.
Presneau N et al.
The Journal of Pathology. Clinical Research, 2015
Detection of SQSTM1/P392L post-zygotic mutations in Paget's disease of bone.
Guay-Bélanger S et al.
Human Genetics, 2015
The emerging mutational landscape of G proteins and G-protein-coupled receptors in cancer.
O'Hayre M et al.
Nature Reviews. Cancer, 2013
GNAS-activating mutations define a rare subgroup of inflammatory liver tumors characterized by STAT3 activation.
Nault JC et al.
Journal of Hepatology, 2012
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
A sensitive mutation-specific screening technique for GNAS1 mutations in cases of fibrous dysplasia: the first report of a codon 227 mutation in bone.
Idowu BD et al.
Histopathology, 2007
G(s)alpha mutations in fibrous dysplasia and McCune-Albright syndrome.
Weinstein LS
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2006
A novel technique based on a PNA hybridization probe and FRET principle for quantification of mutant genotype in fibrous dysplasia/McCune-Albright syndrome.
Karadag A et al.
Nucleic Acids Research, 2004
A novel GNAS1 mutation, R201G, in McCune-albright syndrome.
Riminucci M et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 1999