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Annals of Oncology : Official Journal of the European Society for Medical Oncology|December 21, 2016
Multiplex KRASG12/G13 mutation testing of unamplified cell-free DNA from the plasma of patients with advanced cancers using droplet digital polymerase chain reactionF Janku, H J Huang, T Fujii, et al.American Journal of Human Genetics|April 16, 2003
An ancestral Ashkenazi haplotype at the HMPS/CRAC1 locus on 15q13-q14 is associated with hereditary mixed polyposis syndromeE E M Jaeger, K L Woodford-Richens, M Lockett, et al.Cancer Research|November 26, 1997
Exclusion of PTEN and 10q22-24 as the susceptibility locus for juvenile polyposis syndromeD J Marsh, S Roth, K L Lunetta, et al.Nature Genetics|May 1, 1996
Localization of the gene for Cowden disease to chromosome 10q22-23M R Nelen, G W Padberg, E A Peeters, et al.Journal of Medical Genetics|July 9, 2009
Microdeletions including YWHAE in the Miller-Dieker syndrome region on chromosome 17p13.3 result in facial dysmorphisms, growth restriction, and cognitive impairmentS C Sreenath Nagamani, F Zhang, O A Shchelochkov, et al.Human Molecular Genetics|July 13, 1999
PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndromeD J Marsh, J B Kum, K L Lunetta, et al.Nature Communications|June 3, 2026
MYOD1 mutation drives cancer stem cell pathways and therapy-resistance in spindle cell/sclerosing rhabdomyosarcomaYun Wei, Luis Antonio Corchete Sánchez, Sabateeshan Mathavarajah, et al.JAMA|November 20, 1996
The relationship between specific RET proto-oncogene mutations and disease phenotype in multiple endocrine neoplasia type 2. International RET mutation consortium analysisC Eng, D Clayton, I Schuffenecker, et al.Human Molecular Genetics|April 18, 1998
Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutationD J Marsh, V Coulon, K L Lunetta, et al.Gut|April 15, 2000
Analysis of genetic and phenotypic heterogeneity in juvenile polyposisK Woodford-Richens, S Bevan, M Churchman, et al.Pageof 33