Associated Papers
Prenatal Exome Sequencing Analysis in Fetuses With Structural Anomalies: A Multicenter Prospective Cohort Study With Practical Implications.
Jiang Y et al.
Prenatal Diagnosis, 2026
A novel patient-derived cutaneous melanoma cell line reveals key features of metastatic melanoma.
Tomás A et al.
Frontiers in Oncology, 2025
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
Genetic testing in children enrolled in epilepsy surgery program. A real-life study.
Straka B et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2023
Missed diagnosis or misdiagnosis: Common pitfalls in genetic testing.
Shaw T et al.
Singapore Medical Journal, 2023
Molecular landscape and therapeutic alterations in Asian soft-tissue sarcoma patients.
Gan M et al.
Cancer Medicine, 2022
35586877 (PubMed )
Supplement: CAM4-11-4070-s004.xlsx › Table_S1
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
Actionable secondary findings in the 73 ACMG-recommended genes in 1559 Thai exomes.
Chetruengchai W et al.
Journal of Human Genetics, 2022
Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome.
Chen HJ et al.
Human Mutation, 2017
Immune dysregulation in patients with PTEN hamartoma tumor syndrome: Analysis of FOXP3 regulatory T cells.
Chen HH et al.
The Journal of Allergy and Clinical Immunology, 2017
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