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
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
DYNC1H1‐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 variantsPhenotypeReport
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 AcidsGenotypeHumansIbuprofenInflammationLeukocytesMonocytesNeutrophilsP-SelectinPlatelet ActivationReverse 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