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Genes, Chromosomes & Cancer|April 11, 2019
The nonsense mutation MSH2 c.2152C>T shows a founder effect in Portuguese Lynch syndrome familiesManuela Pinheiro, Inês Francisco, Carla Pinto, et al.
American Journal of Human Genetics|October 1, 2019
Autosomal-Recessive Mutations in MESD Cause Osteogenesis ImperfectaShahida Moosa, Guilherme L Yamamoto, Lutz Garbes, et al.
JCO Precision Oncology|April 16, 2026
Genome Sequencing of Undiagnosed European Patients Suspected of Hereditary Cancer: Diagnostic Yield and Identification of Candidate Causative VariantsNelson Martins, Mariona Terradas, José Garcia-Pelaez, et al.
European Journal of Human Genetics : EJHG|June 10, 2020
The effect of sample size on polygenic hazard models for prostate cancerRoshan A Karunamuni, Minh-Phuong Huynh-Le, Chun C Fan, et al.
Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology|June 26, 2020
A Genetic Risk Score to Personalize Prostate Cancer Screening, Applied to Population DataMinh-Phuong Huynh-Le, Chun Chieh Fan, Roshan Karunamuni, et al.
The Prostate|July 17, 2015
Prediction of individual genetic risk to prostate cancer using a polygenic scoreRobert Szulkin, Thomas Whitington, Martin Eklund, et al.
BMJ (Clinical Research Ed.)|January 12, 2018
Polygenic hazard score to guide screening for aggressive prostate cancer: development and validation in large scale cohortsTyler M Seibert, Chun Chieh Fan, Yunpeng Wang, et al.
Human Molecular Genetics|May 31, 2015
Multiple novel prostate cancer susceptibility signals identified by fine-mapping of known risk loci among EuropeansAli Amin Al Olama, Tokhir Dadaev, Dennis J Hazelett, et al.
Cancers|November 7, 2020
The <i>CHEK2</i> Variant C.349A>G Is Associated with Prostate Cancer Risk and Carriers Share a Common AncestorAndreia Brandão, Paula Paulo, Sofia Maia, et al.
European Journal of Human Genetics : EJHG|October 25, 2024
BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlationsAngela Peron, Felice D'Arco, Kimberly A Aldinger, et al.
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