2023
Estimation on risk of spontaneous abortions by genomic disorders from a meta‐analysis of microarray results on large case series of pregnancy losses
Peng G, Zhou Q, Chai H, Wen J, Zhao H, Taylor H, Jiang Y, Li P. Estimation on risk of spontaneous abortions by genomic disorders from a meta‐analysis of microarray results on large case series of pregnancy losses. Molecular Genetics & Genomic Medicine 2023, 11: e2181. PMID: 37013615, PMCID: PMC10422064, DOI: 10.1002/mgg3.2181.Peer-Reviewed Original ResearchConceptsGenomic disordersChromosome microarray analysisWilliams-Beuren syndromePathogenic copy number variantsPopulation genetic studiesWolf-Hirschhorn syndromeCopy number variantsDiGeorge syndromeMicroarray analysisMicroarray resultsChromosomal abnormalitiesGenetic studiesNumber variantsGenetic counseling
2022
Genotype–Phenotype Correlations for Putative Haploinsufficient Genes in Deletions of 6q26-q27: Report of Eight Patients and Review of Literature
Xie X, Chai H, DiAdamo A, Grommisch B, Wen J, Zhang H, Li P. Genotype–Phenotype Correlations for Putative Haploinsufficient Genes in Deletions of 6q26-q27: Report of Eight Patients and Review of Literature. Global Medical Genetics 2022, 09: 166-174. PMID: 35707784, PMCID: PMC9192176, DOI: 10.1055/s-0042-1743568.Peer-Reviewed Original ResearchGenotype-phenotype correlationBrain abnormalitiesAnti-epilepsy treatmentCommon clinical findingVariable clinical featuresEarly-onset Parkinson's diseaseTerminal deletion syndromePathogenic copy number variantsReview of literatureAdult patientsClinical featuresClinical findingsClinical managementParkinson's diseasePatientsDistal critical regionSystematic reviewUnrelated patientsDevelopmental delayParental studiesFacial dysmorphismDeletion syndromeGenetic counselingIntellectual disabilitySeizures
2021
Detection of cytogenomic abnormalities by OncoScan microarray assay for products of conception from formalin-fixed paraffin-embedded and fresh fetal tissues
Wen J, Grommisch B, DiAdamo A, Chai H, Ng SME, Hui P, Bale A, Mak W, Wang G, Li P. Detection of cytogenomic abnormalities by OncoScan microarray assay for products of conception from formalin-fixed paraffin-embedded and fresh fetal tissues. Molecular Cytogenetics 2021, 14: 21. PMID: 33810806, PMCID: PMC8019165, DOI: 10.1186/s13039-021-00542-5.Peer-Reviewed Original ResearchPathogenic copy number variantsAbnormality detection rateCytogenomic abnormalitiesCulture failureNormal karyotypeHigh diagnostic yieldProducts of conceptionCell contaminationMaternal cell contaminationMolecular inversion probesFresh fetal tissuesParaffin-embedded tissuesFalse-negative resultsFetal resultsRetrospective studyPregnancy lossDiagnostic yieldClinical utilityMaternal cellsFetal tissuesAbnormalitiesNegative resultsChromosomal imbalancesChromosome abnormalitiesUnbalanced structural chromosome abnormalities
2020
Exome sequencing analysis on products of conception: a cohort study to evaluate clinical utility and genetic etiology for pregnancy loss
Zhao C, Chai H, Zhou Q, Wen J, Reddy UM, Kastury R, Jiang Y, Mak W, Bale AE, Zhang H, Li P. Exome sequencing analysis on products of conception: a cohort study to evaluate clinical utility and genetic etiology for pregnancy loss. Genetics In Medicine 2020, 23: 435-442. PMID: 33100332, DOI: 10.1038/s41436-020-01008-6.Peer-Reviewed Original ResearchConceptsProducts of conceptionAbnormality detection rateLikely pathogenic variantsSpontaneous abortionPregnancy lossPathogenic variantsExome sequencingClinical utilityGenetic etiologyExome sequencing analysisPathogenic copy number variantsCohort studyFetal deathRenal diseaseMethodsA cohortSubsequent pregnancyCardiac anomaliesMonogenic etiologyMetabolic disordersRecurrence riskMultisystem abnormalitiesDiagnostic valueConclusionThese resultsMonogenic causesStillbirth