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Human Genetics|November 4, 2024
Germline copy number variants and endometrial cancer riskCassie E Stylianou, George A R Wiggins, Vanessa L Lau, et al.
The Lancet Regional Health. Europe|May 28, 2024
Diagnostic yield and clinical impact of germline sequencing in children with CNS and extracranial solid tumors-a nationwide, prospective Swedish studyBianca Tesi, Kristina Lagerstedt Robinson, Frida Abel, et al.
Genome Medicine|March 17, 2021
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patientsHenrik Stranneheim, Kristina Lagerstedt-Robinson, Måns Magnusson, et al.
American Journal of Human Genetics|October 6, 2018
A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan GlycosylationCarlos R Ferreira, Zhi-Jie Xia, Aurélie Clément, et al.
Cancers|January 30, 2020
The Spectrum of FANCM Protein Truncating Variants in European Breast Cancer CasesGisella Figlioli, Anders Kvist, Emma Tham, et al.
Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology|August 24, 2016
Genetic Risk Score Mendelian Randomization Shows that Obesity Measured as Body Mass Index, but not Waist:Hip Ratio, Is Causal for Endometrial CancerJodie N Painter, Tracy A O'Mara, Louise Marquart, et al.
Endocrine-Related Cancer|September 3, 2015
Comprehensive genetic assessment of the ESR1 locus identifies a risk region for endometrial cancerTracy A O'Mara, Dylan M Glubb, Jodie N Painter, et al.
Ebiomedicine|July 9, 2025
GWAS meta-analysis identifies five susceptibility loci for endometrial cancerDhanya Ramachandran, Xuemin Wang, Triin Laisk, et al.
Cancer Medicine|April 3, 2018
Genetic overlap between endometriosis and endometrial cancer: evidence from cross-disease genetic correlation and GWAS meta-analysesJodie N Painter, Tracy A O'Mara, Andrew P Morris, et al.
Journal of Medical Genetics|May 14, 2026
Updated ENIGMA recommendations for reporting germline variants in cancer susceptibility genes and their translation into twenty languagesArcangela De Nicolo, Diana M Eccles, Kirsimari Aaltonen, et al.
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