2021
Differential Metabolites in Chinese Autistic Children: A Multi-Center Study Based on Urinary 1H-NMR Metabolomics Analysis
Ma Y, Zhou H, Li C, Zou X, Luo X, Wu L, Li T, Chen X, Mao M, Huang Y, Li E, An Y, Zhang L, Wang T, Xu X, Yan W, Jiang Y, Wang Y. Differential Metabolites in Chinese Autistic Children: A Multi-Center Study Based on Urinary 1H-NMR Metabolomics Analysis. Frontiers In Psychiatry 2021, 12: 624767. PMID: 34045978, PMCID: PMC8144639, DOI: 10.3389/fpsyt.2021.624767.Peer-Reviewed Original ResearchDifferential metabolitesHealthy childrenPathogenic mechanismsControl groupGuanidinoacetic acidAutism spectrum disorderROC curveMulti-center studyCharacteristic curve analysisH NMR metabolomics analysisSignificant diagnostic valueAmino acid metabolitesMetabolomic analysisN-methylnicotinamideEarly-onset neurodevelopmental disorderUnivariate analysisEarly diagnosisValuable biomarkerAcid metabolitesAmino acid metabolic pathwaysDiagnostic valueAutistic childrenCreatinineCurve analysisMetabolic variations
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