Associated Papers
The genetic landscape of Lynch syndrome in the Israeli population.
Abu Shtaya A et al.
Familial Cancer, 2024
Targeted genotyping for recurring variants in cancer susceptibility genes in non-Ashkenazi Jewish patients with breast cancer diagnosed ≥50 years.
Bernstein-Molho R et al.
Cancer, 2024
Evolutionary origin of germline pathogenic variants in human DNA mismatch repair genes.
Lei H et al.
Human Genomics, 2024
38287404 (PubMed )
Supplement: 40246_2024_573_MOESM3_ESM.xls › MLH1
The Diagnostic Yield and Implications of Targeted Founder Pathogenic Variant Testing in an Israeli Cohort.
Abu Shtaya A et al.
Cancers, 2023
Microsatellite instability in noncolorectal and nonendometrial malignancies in patients with Lynch syndrome.
Elze L et al.
Journal of the National Cancer Institute, 2023
37018159 (PubMed )
Supplement: djad063_supplementary_data.zip › djad063_Supplementary_Data › JNCI-22-1411_SupplementaryTable1_revised.xlsx › eTable_1
Yield of targeted genotyping for the recurring pathogenic variants in cancer susceptibility genes in a healthy, multiethnic Israeli population.
Bernstein-Molho R et al.
Cancer, 2021
Contribution of mRNA Splicing to Mismatch Repair Gene Sequence Variant Interpretation.
Thompson BA et al.
Frontiers in Genetics, 2020
32849802 (PubMed )
Supplement: Data_Sheet_1.xlsx › Supplementary_Table_3
A plugin for the Ensembl Variant Effect Predictor that uses MaxEntScan to predict variant spliceogenicity.
Shamsani J et al.
Bioinformatics (oxford, England), 2019
30475984 (PubMed )
Supplement: bty960_supplementary_data.zip › bty960-Suppl_data › Supplementary_Table_S1.xlsx › Sheet1
Genetic features of Lynch syndrome in the Israeli population.
Goldberg Y et al.
Clinical Genetics, 2015
A massive parallel sequencing workflow for diagnostic genetic testing of mismatch repair genes.
Hansen MF et al.
Molecular Genetics & Genomic Medicine, 2014
Current clinical criteria for Lynch syndrome are not sensitive enough to identify MSH6 mutation carriers.
Sjursen W et al.
Journal of Medical Genetics, 2010
Multiplex SNaPshot genotyping for detecting loss of heterozygosity in the mismatch-repair genes MLH1 and MSH2 in microsatellite-unstable tumors.
Bujalkova M et al.
Clinical Chemistry, 2008
Mutation spectrum in HNPCC in the Israeli population.
Goldberg Y et al.
Familial Cancer, 2008
[A new oncogenetic service of counseling and diagnosing for hereditary non-polyposis colorectal cancer (HNPCC)].
Goldberg Y et al.
Harefuah, 2007
Germline MLH1 and MSH2 mutational spectrum including frequent large genomic aberrations in Hungarian hereditary non-polyposis colorectal cancer families: implications for genetic testing.
Papp J et al.
World Journal of Gastroenterology, 2007
Spectrum of germ-line MLH1 and MSH2 mutations in Austrian patients with hereditary nonpolyposis colorectal cancer.
Wolf B et al.
Wiener Klinische Wochenschrift, 2005
Select a paper to view details