2024
P352: The importance of genetics consultation prior to testing for a successful rapid genome sequencing program
Xicola R, Bistline E, Galloway M, Cox A, Abdelhamed Z, Ma D, Zhao C, Dykas D, Bale A, Zhang H. P352: The importance of genetics consultation prior to testing for a successful rapid genome sequencing program. Genetics In Medicine Open 2024, 2: 101246. DOI: 10.1016/j.gimo.2024.101246.Peer-Reviewed Original Research
2022
Detecting regions of homozygosity improves the diagnosis of pathogenic variants and uniparental disomy in pediatric patients
Wen J, Chai H, Grommisch B, DiAdamo A, Dykas D, Ma D, Popa A, Zhao C, Spencer‐Manzon M, Jiang Y, McGrath J, Li P, Bale A, Zhang H. Detecting regions of homozygosity improves the diagnosis of pathogenic variants and uniparental disomy in pediatric patients. American Journal Of Medical Genetics Part A 2022, 188: 1728-1738. PMID: 35199448, DOI: 10.1002/ajmg.a.62693.Peer-Reviewed Original ResearchConceptsPediatric patientsWhole-exome sequencingCase seriesAR diseasesPathogenic variantsLarge consecutive case seriesConsecutive case seriesLarge case seriesUniparental disomyLikely pathogenic variantsRegions of homozygosityChromosomal microarray analysisAutosomal recessive diseasePrader-Willi syndromeDiagnostic findingsDiagnostic yieldPatientsPredictive valueGenetic testingHomozygous variantDiseaseExome sequencingRecessive diseaseGenetic counselingStrongest predictor
2021
Early-Onset Vascular Dementia in a 43-Year-Old Man with Accelerated Atherosclerotic Disease, Elevated Lipoprotein (a), and a Missense DNAJC5 Variant with Potential Association to Adult-Onset Ceroid Lipofuscinosis
Faruq RN, D’Silva P, Lau FD, Zhao C, Majumdar S. Early-Onset Vascular Dementia in a 43-Year-Old Man with Accelerated Atherosclerotic Disease, Elevated Lipoprotein (a), and a Missense DNAJC5 Variant with Potential Association to Adult-Onset Ceroid Lipofuscinosis. Case Reports In Neurology 2021, 13: 565-571. PMID: 34720963, PMCID: PMC8460928, DOI: 10.1159/000518194.Peer-Reviewed Case Reports and Technical NotesEarly-onset dementiaNew infarctsElevated lipoproteinVascular dementiaRisk factorsMemory lossCeroid lipofuscinosisAccelerated atherosclerotic diseaseEarly vascular dementiaModifiable risk factorsProgressive memory lossMissense variantsDNAJC5 geneBilateral ICABilateral PCACardiac echocardiogramAccelerated atherosclerosisAntiplatelet agentsCerebrovascular infarctsAtherosclerotic diseaseCSF studiesLeft PCASevere stenosisMMA levelsInfarctsA review of consensus statements, practice resources, standards and guidelines for clinical applications of next-generation sequencing technologies in the United States
Zhao C, Xie X, Ji W, Qi M, Zhou Q, Li M, Li P, Jiang Y, Zhang H. A review of consensus statements, practice resources, standards and guidelines for clinical applications of next-generation sequencing technologies in the United States. 中华医学遗传学杂志 2021, 38: 513-520. PMID: 34096016, DOI: 10.3760/cma.j.cn511374-20200924-00691.Peer-Reviewed Original Research
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