2020
Germline NLRP7 mutations: genomic imprinting and hydatidiform mole
Hui P. Germline NLRP7 mutations: genomic imprinting and hydatidiform mole. Virchows Archiv 2020, 477: 175-176. PMID: 32577811, DOI: 10.1007/s00428-020-02802-y.Peer-Reviewed Original Research
2016
Mismatch repair deficiency testing in clinical practice
Buza N, Ziai J, Hui P. Mismatch repair deficiency testing in clinical practice. Expert Review Of Molecular Diagnostics 2016, 16: 591-604. PMID: 26895074, DOI: 10.1586/14737159.2016.1156533.Peer-Reviewed Original ResearchConceptsLynch syndromeDeficiency testingMismatch repair deficiency testingMicrosatellite instabilityMMR deficiency testingMMR gene deficiencyDNA mismatch repair genesCurrent diagnostic algorithmsLynch syndrome familiesProfound genetic instabilityMicrosatellite instability analysisMismatch repair genesEndometrial malignancyClinical managementUltimate diagnosisClinical OncologyClinical practiceClinical testingTumor tissueSyndromeCancer developmentMMR genesDiagnostic algorithmGene deficiencyGermline DNA