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Times Cited: 19
Times Cited
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Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.
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Validation of Recently Proposed Colorectal Cancer Susceptibility Gene Variants in an Analysis of Families and Patients-a Systematic Review.
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Germline deletions in the tumour suppressor gene FOCAD are associated with polyposis and colorectal cancer development.
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Merging perspectives: genotype-directed molecular therapy for hereditary diffuse gastric cancer (HDGC) and E-cadherin-EGFR crosstalk.
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Somatic mutations and deletions of the E-cadherin gene predict poor survival of patients with gastric cancer.
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DNA polymerase theta up-regulation is associated with poor survival in breast cancer, perturbs DNA replication, and promotes genetic instability.
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Evaluation of in silico algorithms for use with ACMG/AMP clinical variant interpretation guidelines.
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LNK/SH2B3 Loss of Function Promotes Atherosclerosis and Thrombosis.
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Genetic loss of SH2B3 in acute lymphoblastic leukemia.
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10
A mutation in the POT1 gene is responsible for cardiac angiosarcoma in TP53-negative Li-Fraumeni-like families.
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Germline variation in O6-methylguanine-DNA methyltransferase (MGMT) as cause of hereditary colorectal cancer.
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Rare disruptive mutations and their contribution to the heritable risk of colorectal cancer.
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10
A novel ribosomal protein S20 variant in a family with unexplained colorectal cancer and polyposis.
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16
Frequency and phenotypic spectrum of germline mutations in POLE and seven other polymerase genes in 266 patients with colorectal adenomas and carcinomas.
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10
Germline variants in the SEMA4A gene predispose to familial colorectal cancer type X.
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Mutations of HNRNPA0 and WIF1 predispose members of a large family to multiple cancers.
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10
Germline mutation of RPS20, encoding a ribosomal protein, causes predisposition to hereditary nonpolyposis colorectal carcinoma without DNA mismatch repair deficiency.
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Germline Variants in the POT1-Gene in High-Risk Melanoma Patients in Austria.
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Correspondence: SEMA4A variation and risk of colorectal cancer.
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40
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