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European Journal of Human Genetics : EJHG|January 5, 2025
Characterisation of heritable TP53-related cancer syndrome in Sweden-a nationwide study of genotype-phenotype correlations in 90 familiesMeis Omran, Yaxuan Liu, Alexander Sun Zhang, et al.Plos One|February 17, 2022
A retrospective two centre study of Birt-Hogg-Dubé syndrome reveals a pathogenic founder mutation in FLCN in the Swedish populationKristina Lagerstedt-Robinson, Izabella Baranowska Körberg, Stefanos Tsiaprazis, et al.Cancers|February 25, 2023
Sensitive Detection of Cell-Free Tumour DNA Using Optimised Targeted Sequencing Can Predict Prognosis in Gastro-Oesophageal CancerKarin Wallander, Zahra Haider, Ashwini Jeggari, et al.American Journal of Human Genetics|March 3, 2015
Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic featuresEmma Tham, Anna Lindstrand, Avni Santani, et al.Cancer|January 5, 2023
Whole-body MRI surveillance in TP53 carriers is perceived as beneficial with no increase in cancer worry regardless of previous cancer: Data from the Swedish TP53 StudyMeis Omran, Hemming Johansson, Claudia Lundgren, et al.Hereditary Cancer in Clinical Practice|November 3, 2018
A retrospective study of extracolonic, non-endometrial cancer in Swedish Lynch syndrome familiesMasoud Karimi, Jenny von Salomé, Christos Aravidis, et al.Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|November 28, 2017
Expanding the Clinical Spectrum of Phenotypes Caused by Pathogenic Variants in PLOD2Gabriela Ferraz Leal, Gen Nishimura, Ulrika Voss, et al.World Journal of Urology|September 19, 2023
Consultation on UTUC II Stockholm 2022: diagnostic and prognostic methods-what's around the corner?Alexandra Grahn, Jonathan A Coleman, Ylva Eriksson, et al.European Journal of Endocrinology|May 15, 2012
Predicting the risk of multiple endocrine neoplasia type 1 for patients with commonly occurring endocrine tumorsJoanne M de Laat, Emma Tham, Carolina R C Pieterman, et al.Human Mutation|August 7, 2018
Alu-Alu mediated intragenic duplications in IFT81 and MATN3 are associated with skeletal dysplasiasMaria Pettersson, Raquel Vaz, Anna Hammarsjö, et al.Pageof 9