2024
Cutaneous Squamous Cell Carcinoma in Transketolase Deficiency
Loranger N, Vishnevetsky A, Spencer-Manzon M, Karn E, Chung W, Roche A, Ruiz E. Cutaneous Squamous Cell Carcinoma in Transketolase Deficiency. JAMA Otolaryngology - Head & Neck Surgery 2024, 150 PMID: 39325476, DOI: 10.1001/jamaoto.2024.2489.Peer-Reviewed Original ResearchA Unique Presentation of Nodular Masses in Infancy.
Velagala S, Heiden E, Lisse S, Wu H, Prior D, Chen G, Christison-Lagay E, Provini L, Antaya R, Spencer-Manzon M, Johnston L. A Unique Presentation of Nodular Masses in Infancy. NeoReviews 2024, 25: e370-e374. PMID: 38821908, DOI: 10.1542/neo.25-6-e370.Peer-Reviewed Original ResearchP602: Genetic modifiers as a basis for phenotypic variability in mosaic trisomy 8
Abdelhamed Z, Dykas D, DiAdamo A, Wen J, Zhang H, Spencer-Manzon M, Li P, Jiang Y, Bale A. P602: Genetic modifiers as a basis for phenotypic variability in mosaic trisomy 8. Genetics In Medicine Open 2024, 2: 101508. DOI: 10.1016/j.gimo.2024.101508.Peer-Reviewed Original Research
2022
A retrospective cohort analysis of the Yale pediatric genomics discovery program
Al‐Ali S, Jeffries L, Faustino EVS, Ji W, Mis E, Konstantino M, Zerillo C, Jiang Y, Spencer‐Manzon M, Bale A, Zhang H, McGlynn J, McGrath JM, Tremblay T, Brodsky NN, Lucas CL, Pierce R, Deniz E, Khokha MK, Lakhani SA. A retrospective cohort analysis of the Yale pediatric genomics discovery program. American Journal Of Medical Genetics Part A 2022, 188: 2869-2878. PMID: 35899841, PMCID: PMC9474639, DOI: 10.1002/ajmg.a.62918.Peer-Reviewed Original ResearchConceptsRetrospective cohort analysisNext-generation sequencingCohort analysisSystem abnormalitiesImmune system abnormalitiesCardiovascular system abnormalitiesFunctional molecular analysesNovel genesPrecise molecular diagnosisClinical characteristicsFurther genetic evaluationDiscovery programsComplex patientsMultisystem diseaseDisease genesPediatric providersRare genetic diseaseNew diagnosisPhenotype relationshipsPatientsGenetic diseasesMolecular analysisDiagnosisParticipant demographicsNGS resultsMYO-INOSITOL AS AN INNOVATIVE THERAPY FOR PIGW-RELATED GLYCOSYLPHOSPHATIDYLINOSITOL DEFICIENCY
Palma M, McVicar K, Spencer-Manzon M, Tiwary H, Chen J, Master S, He M, Bennett M, Pearl P, Berry G. MYO-INOSITOL AS AN INNOVATIVE THERAPY FOR PIGW-RELATED GLYCOSYLPHOSPHATIDYLINOSITOL DEFICIENCY. Molecular Genetics And Metabolism 2022, 135: 289-290. DOI: 10.1016/j.ymgme.2022.01.070.Peer-Reviewed Original ResearchDetecting 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
A 6-year-old Refugee Girl with Profound Developmental Disability and Seizures
Rosenberg JM, Brown C, Spencer-Manzon MJ. A 6-year-old Refugee Girl with Profound Developmental Disability and Seizures. Pediatrics In Review 2021, 42: s23-s26. PMID: 33386354, DOI: 10.1542/pir.2019-0010.Peer-Reviewed Original Research
2020
The latest FADS: Functional analysis of GLDN patient variants and classification of GLDN‐associated AMC as a type of viable fetal akinesia deformation sequence
Mis EK, Al‐Ali S, Ji W, Spencer‐Manzon M, Konstantino M, Khokha MK, Jeffries L, Lakhani SA. The latest FADS: Functional analysis of GLDN patient variants and classification of GLDN‐associated AMC as a type of viable fetal akinesia deformation sequence. American Journal Of Medical Genetics Part A 2020, 182: 2291-2296. PMID: 32812332, DOI: 10.1002/ajmg.a.61783.Peer-Reviewed Original ResearchConceptsFetal akinesia deformation sequenceArthrogryposis multiplex congenitaCohort of patientsScope of illnessPulmonary hypoplasiaAdditional patientsClinical featuresNeonatal supportNervous system developmentMultiplex congenitaCongenital contracturesPatientsHeterogenous conditionRecessive variantsPatient variantsFunctional evidenceCohortNovel variantsContractureFunctional dataSyndromeHypoplasiaIllnessVariantsFindingsAntenatally detected liver and biliary pathology
Shaughnessy MP, Spencer-Manzon M, Cowles RA. Antenatally detected liver and biliary pathology. Seminars In Pediatric Surgery 2020, 29: 150939. PMID: 32861443, DOI: 10.1016/j.sempedsurg.2020.150939.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsDYNC1H1‐related disorders: A description of four new unrelated patients and a comprehensive review of previously reported variants
Amabile S, Jeffries L, McGrath JM, Ji W, Spencer‐Manzon M, Zhang H, Lakhani SA. DYNC1H1‐related disorders: A description of four new unrelated patients and a comprehensive review of previously reported variants. American Journal Of Medical Genetics Part A 2020, 182: 2049-2057. PMID: 32656949, DOI: 10.1002/ajmg.a.61729.Peer-Reviewed Original ResearchConceptsSpinal muscular atrophyIntellectual disabilityUnrelated patientsSingle-center experienceNew unrelated patientsCenter experienceDYNC1H1 geneCNS disordersCombined disordersCortical developmentDisease-causing variantsVariable syndromeNeuromuscular diseaseNeuromuscular phenotypePatientsMuscular atrophyHeterozygous variantsDYNC1H1Medical literatureCharcot-MarieDisordersType 20Novel variantsPhenotypeReportFamilial Dilated Cardiomyopathy Associated With a Novel Combination of Compound Heterozygous TNNC1 Variants
Landim-Vieira M, Johnston JR, Ji W, Mis EK, Tijerino J, Spencer-Manzon M, Jeffries L, Hall EK, Panisello-Manterola D, Khokha MK, Deniz E, Chase PB, Lakhani SA, Pinto JR. Familial Dilated Cardiomyopathy Associated With a Novel Combination of Compound Heterozygous TNNC1 Variants. Frontiers In Physiology 2020, 10: 1612. PMID: 32038292, PMCID: PMC6990120, DOI: 10.3389/fphys.2019.01612.Peer-Reviewed Original ResearchCardiac muscle preparationsIsometric forcePatient variantsEarly-onset DCMDilated Cardiomyopathy AssociatedCompound heterozygous variantsSteady-state isometric forceCardiomyopathy AssociatedContractile functionMuscle preparationsCardiomyopathy phenotypeHeterozygous variantsCardiac phenotypeMyofilament CaSarcomeric genesFurther studies
2019
A Retrospective Analysis of 10-Year Data Assessed the Diagnostic Accuracy and Efficacy of Cytogenomic Abnormalities in Current Prenatal and Pediatric Settings
Chai H, DiAdamo A, Grommisch B, Xu F, Zhou Q, Wen J, Mahoney M, Bale A, McGrath J, Spencer-Manzon M, Li P, Zhang H. A Retrospective Analysis of 10-Year Data Assessed the Diagnostic Accuracy and Efficacy of Cytogenomic Abnormalities in Current Prenatal and Pediatric Settings. Frontiers In Genetics 2019, 10: 1162. PMID: 31850057, PMCID: PMC6902283, DOI: 10.3389/fgene.2019.01162.Peer-Reviewed Original Research
2018
A homozygous variant in RRM2B is associated with severe metabolic acidosis and early neonatal death
Penque BA, Su L, Wang J, Ji W, Bale A, Luh F, Fulbright RK, Sarmast U, Sega AG, Konstantino M, Spencer-Manzon M, Pierce R, Yen Y, Lakhani SA. A homozygous variant in RRM2B is associated with severe metabolic acidosis and early neonatal death. European Journal Of Medical Genetics 2018, 62: 103574. PMID: 30439532, DOI: 10.1016/j.ejmg.2018.11.008.Peer-Reviewed Original ResearchTwo siblings with a novel nonsense variant provide further delineation of the spectrum of recessive KLHL7 diseases
Jeffries L, Olivieri JE, Ji W, Spencer-Manzon M, Bale A, Konstantino M, Lakhani SA. Two siblings with a novel nonsense variant provide further delineation of the spectrum of recessive KLHL7 diseases. European Journal Of Medical Genetics 2018, 62: 103551. PMID: 30300710, DOI: 10.1016/j.ejmg.2018.10.003.Peer-Reviewed Original ResearchConceptsKLHL7 mutationsCrisponi syndromeSyndrome type 1Novel nonsense variantBohring-Opitz syndromeNovel multisystem diseaseNovel homozygous nonsense mutationMultiple dysmorphic featuresClinical featuresClinical findingsMultisystem diseaseLike presentationHomozygous nonsense mutationType 1Dysmorphic featuresDevelopmental delaySyndromeFurther delineationNonsense variantClinical traitsPatientsMember 7DiseaseDisease-associated variantsSiblings
2017
A Case of Succinyl-CoA:3-Oxoacid CoA Transferase Deficiency Presenting with Severe Acidosis in a 14-Month-Old Female: Evidence for Pathogenicity of a Point Mutation in the OXCT1 Gene
Zheng DJ, Hooper M, Spencer-Manzon M, Pierce RW. A Case of Succinyl-CoA:3-Oxoacid CoA Transferase Deficiency Presenting with Severe Acidosis in a 14-Month-Old Female: Evidence for Pathogenicity of a Point Mutation in the OXCT1 Gene. Journal Of Pediatric Intensive Care 2017, 07: 062-066. PMID: 31073471, PMCID: PMC6260335, DOI: 10.1055/s-0037-1604270.Peer-Reviewed Original ResearchMetabolic supportSevere anion gap metabolic acidosisTransferase deficiencyAnion gap metabolic acidosisPediatric intensive care unitGap metabolic acidosisIntensive care unitMonth old femaleCare unitNeonatal periodSevere acidosisMetabolic acidosisEarly managementFavorable outcomeSCOT deficiencyHigh indexOld femaleOlder ageInborn errorsAcidosisOXCT1 geneImmediate transferDeficiencyFemalesTachypnea
2012
Cardiac Pathology in Glycogen Storage Disease Type III
Austin SL, Proia AD, Spencer-Manzon MJ, Butany J, Wechsler SB, Kishnani PS. Cardiac Pathology in Glycogen Storage Disease Type III. JIMD Reports 2012, 6: 65-72. PMID: 23430941, PMCID: PMC3565657, DOI: 10.1007/8904_2011_118.Peer-Reviewed Original ResearchCardiac transplantationHeart failureGSD III patientsIII patientsEnd-stage heart failureSymptomatic heart failureSudden cardiac deathSmooth muscle hyperplasiaGlycogen accumulationSevere hypertrophic cardiomyopathySmooth muscle cellsGlycogen storage disease type IIIStorage disease type IIICardiac deathIntramyocardial arteriesThird patientSerious arrhythmiasClinical recordsPatient populationCardiac fibrosisSevere vacuolationHypertrophic cardiomyopathyClinical impactMuscle hyperplasiaAtrioventricular node
2011
Banding Pattern on Polarized Hair Microscopic Examination and Unilateral Polymicrogyria in a Patient With Steroid Sulfatase Deficiency
Puri PK, Reddi DM, Spencer-Manzon M, Deak K, Steele SU, Mikati MA. Banding Pattern on Polarized Hair Microscopic Examination and Unilateral Polymicrogyria in a Patient With Steroid Sulfatase Deficiency. JAMA Dermatology 2011, 148: 73-78. PMID: 21931015, DOI: 10.1001/archdermatol.2011.281.Peer-Reviewed Original ResearchConceptsSteroid sulfatase deficiencyUnilateral polymicrogyriaSulfatase deficiencyRetinitis pigmentosaGeneralized tonic seizuresLeft lateral ventricleMicroscopic examinationLight microscopic examinationSjögren-Larsson syndromeHemispheric polymicrogyriaNeurologic manifestationsPoor dentitionTonic seizuresPhysical examinationForms of ichthyosisLateral ventricleCaucasian maleCortical developmentRefsum diseaseHair findingsAbnormal hairPolymicrogyriaAsymmetric dilationPatientsSeizures
2009
Liver transplantation for glycogen storage disease type Ia
Reddy SK, Austin SL, Spencer-Manzon M, Koeberl DD, Clary BM, Desai DM, Smith AD, Kishnani PS. Liver transplantation for glycogen storage disease type Ia. Journal Of Hepatology 2009, 51: 483-490. PMID: 19596478, DOI: 10.1016/j.jhep.2009.05.026.Peer-Reviewed Original ResearchConceptsGSD Ia patientsLiver transplantationIA patientsHepatocellular carcinomaHepatocellular adenomaRenal dysfunctionPrevention of HCCGSD IaMultiple hepatocellular adenomasPost-transplant complicationsPre-operative comorbiditiesGlycogen storage disease typeDefinitive preventionImmunosuppressive medicationsAllograft rejectionCytomegalovirus infectionRenal functionTotal cholesterolHemoglobin levelsMetabolic derangementsSerum triglyceridesRetrospective studyUnited NetworkPrincipal indicationBlood glucose
2005
Platelet activation in cystic fibrosis
O'Sullivan BP, Linden MD, Frelinger AL, Barnard MR, Spencer-Manzon M, Morris JE, Salem RO, Laposata M, Michelson AD. Platelet activation in cystic fibrosis. Blood 2005, 105: 4635-4641. PMID: 15705796, DOI: 10.1182/blood-2004-06-2098.Peer-Reviewed Original ResearchMeSH KeywordsAdenylyl CyclasesAdolescentAdultAlprostadilAnti-Inflammatory Agents, Non-SteroidalArachidonic AcidBlood PlateletsBlotting, WesternCase-Control StudiesCell MembraneChildCyclic AMPCystic FibrosisCystic Fibrosis Transmembrane Conductance RegulatorFatty AcidsGenotypeHumansIbuprofenInflammationLeukocytesMonocytesNeutrophilsPlatelet ActivationP-SelectinReverse Transcriptase Polymerase Chain ReactionRNA, MessengerThromboxane A2Time FactorsVitamin EConceptsCystic fibrosisCF patientsCyclic adenosine monophosphatePlatelet activationPlatelet surface P-selectinMonocyte-platelet aggregationNeutrophil-platelet aggregationCystic fibrosis transmembrane conductance regulatorLeukocyte-platelet aggregatesSurface P-selectinLung inflammationPlatelet hyperreactivityPlatelet reactivityPlatelet responsivenessPolymerase chain reactionHealthy controlsPlatelet functionP-selectinNormal platelets