2024
1965-LB: Metabolomic and Transcriptomic Signatures of Gestational Diabetes Mellitus (GDM) Suggest Nutritional and Inflammatory Pathways in Intergenerational Transfer of Risk
THAKER V, FIRESTEIN M, MASSON C, LIU Z, REDDY U, GALLAGHER D, LEDUC C. 1965-LB: Metabolomic and Transcriptomic Signatures of Gestational Diabetes Mellitus (GDM) Suggest Nutritional and Inflammatory Pathways in Intergenerational Transfer of Risk. Diabetes 2024, 73 DOI: 10.2337/db24-1965-lb.Peer-Reviewed Original ResearchGestational diabetes mellitusMetabolic riskC-peptideCord blood C-peptideCord blood metabolitesBlood C-peptideMother-baby dyadsCord plasmaCord bloodSteroid hormone signalingMaternal milieuTransport abnormalitiesPlacental tissuePregnancy ageDiabetes mellitusOffspring birthweightPlacental transcriptomePlasma fructosamineInflammatory pathwaysInflammatory processPlacenta tissueINSR expressionCordMetabolite profilesObesity
2018
Smith–Lemli–Opitz Mutations in Unexplained Stillbirths
Gibbins KJ, Reddy UM, Saade GR, Goldenberg RL, Dudley DJ, Parker CB, Thorsten V, Pinar H, Bukowski R, Hogue CJ, Silver RM. Smith–Lemli–Opitz Mutations in Unexplained Stillbirths. American Journal Of Perinatology 2018, 35: 936-939. PMID: 29433144, PMCID: PMC6060008, DOI: 10.1055/s-0038-1626705.Peer-Reviewed Original ResearchConceptsUnexplained stillbirthLive birthsPopulation-based case-control studyCase-control studySmith-LemliAutosomal recessive syndromeObstetric complicationsHistologic featuresExon 3Placental tissueStillbirthRecessive syndromeDeoxyribonucleic acidStrong associationBidirectional sequencingDHCR7 mutationsCompound heterozygotesSyndromeCholesterol biosynthesisOpitz syndromeHomozygote frequencyBirthRepresentative sampleSLOS mutationsDHCR7
2013
Karyotype Versus Microarray Testing for Genetic Abnormalities After Stillbirth
Reddy U, Page G, Saade G, Silver R, Thorsten V, Parker C, Pinar H, Willinger M, Stoll B, Heim-Hall J, Varner M, Goldenberg R, Bukowski R, Wapner R, Drews-Botsch C, O’Brien B, Dudley D, Levy B. Karyotype Versus Microarray Testing for Genetic Abnormalities After Stillbirth. Obstetrical & Gynecological Survey 2013, 68: 278-280. DOI: 10.1097/01.ogx.0000429295.65513.69.Peer-Reviewed Original ResearchMicroarray analysisUnknown significancePathogenic variantsAntepartum stillbirthPostmortem examinationKaryotype analysisMore abnormalitiesPlacental tissueMicroarray resultsStillbirth Collaborative Research NetworkBenign variantsMicroarray testingPopulation-based studyGenomic abnormalitiesGeographic catchment areaStandard karyotype analysisCopy number variantsCord bloodClinical significanceNonviable tissueClinical relevanceStillbirthAbnormal karyotypeClinical implicationsFetal tissues