Associated Papers
Quantitative evaluation of DNA damage repair dynamics to elucidate predictors of autism vs. cancer in individuals with germline PTEN variants.
Wei R et al.
Plos Computational Biology, 2024
Gingival Overgrowths Revealing PTEN Hamartoma Tumor Syndrome: Report of Novel PTEN Pathogenic Variants.
Sutera S et al.
Biomedicines, 2022
Distinct metabolic profiles associated with autism spectrum disorder versus cancer in individuals with germline PTEN mutations.
Yehia L et al.
Npj Genomic Medicine, 2022
35241692 (PubMed )
Supplement: 41525_2022_289_MOESM1_ESM.pdf
Considerations on diagnosis and surveillance measures of PTEN hamartoma tumor syndrome: clinical and genetic study in a series of Spanish patients.
Pena-Couso L et al.
Orphanet Journal of Rare Diseases, 2022
35227301 (PubMed )
Supplement: 13023_2021_2079_MOESM1_ESM.pdf
Clinical impact of a cancer genomic profiling test using an in-house comprehensive targeted sequencing system.
Hayashi H et al.
Cancer Science, 2020
32772458 (PubMed )
Supplement: CAS-111-3926-s001.xlsx › TABLE_S2
Diagnostic yield and clinical utility of a comprehensive gene panel for hereditary tumor syndromes.
Henn J et al.
Hereditary Cancer in Clinical Practice, 2019
30680046 (PubMed )
Supplement: 13053_2018_102_MOESM1_ESM.xlsx › Tabelle1
Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome.
Chen HJ et al.
Human Mutation, 2017
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