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
2020
Antenatally 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 Statements
2018
Two 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