About
Titles
Clinical Technologist Genetics
Research
Research at a Glance
Yale Co-Authors
Frequent collaborators of Katherine Wilcox's published research.
Publications Timeline
A big-picture view of Katherine Wilcox's research output by year.
Peining Li, PhD
Jia Di Wen, MD, PhD, FACMG
Jennifer Burton
5Publications
80Citations
Publications
2020
Diagnostic cytogenetic testing following positive noninvasive prenatal screening results of sex chromosome abnormalities: Report of five cases and systematic review of evidence
Xie X, Tan W, Li F, Carrano E, Ramirez P, DiAdamo A, Grommisch B, Amato K, Chai H, Wen J, Li P. Diagnostic cytogenetic testing following positive noninvasive prenatal screening results of sex chromosome abnormalities: Report of five cases and systematic review of evidence. Molecular Genetics & Genomic Medicine 2020, 8: e1297. PMID: 32383339, PMCID: PMC7336728, DOI: 10.1002/mgg3.1297.Peer-Reviewed Original ResearchCitationsAltmetricMeSH Keywords and ConceptsConceptsPositive predictive valueLarge case seriesNoninvasive prenatal screeningChromosomal microarray analysisCase seriesCytogenetic analysisMonosomy XPrenatal screening resultsPrenatal diagnosisMosaic patternSex chromosomal abnormalitiesEvidence-based approachReview of literaturePositive ratePrenatal genetic counselingSCA casesPredictive valueStructural abnormalitiesSystematic reviewCytogenetic testingPrenatal screeningSex chromosome abnormalitiesChromosomal abnormalitiesCase 2Case 1
2019
Analytical validation and chromosomal distribution of regions of homozygosity by oligonucleotide array comparative genomic hybridization from normal prenatal and postnatal case series
Wen J, Comerford K, Xu Z, Wu W, Amato K, Grommisch B, DiAdamo A, Xu F, Chai H, Li P. Analytical validation and chromosomal distribution of regions of homozygosity by oligonucleotide array comparative genomic hybridization from normal prenatal and postnatal case series. Molecular Cytogenetics 2019, 12: 12. PMID: 30886647, PMCID: PMC6404290, DOI: 10.1186/s13039-019-0424-6.Peer-Reviewed Original ResearchCitationsAltmetricIntegrated FISH, Karyotyping and aCGH Analyses for Effective Prenatal Diagnosis of Common Aneuploidies and Other Cytogenomic Abnormalities
Chai H, DiAdamo A, Grommisch B, Boyle J, Amato K, Wang D, Wen J, Li P. Integrated FISH, Karyotyping and aCGH Analyses for Effective Prenatal Diagnosis of Common Aneuploidies and Other Cytogenomic Abnormalities. Medical Sciences 2019, 7: 16. PMID: 30678103, PMCID: PMC6410168, DOI: 10.3390/medsci7020016.Peer-Reviewed Original ResearchCitationsAltmetricConceptsArray comparative genomic hybridizationPathogenic copy number variantsMosaic patternStructural chromosomal rearrangementsChromosomal structural rearrangementsCopy number variantsComparative genomic hybridizationChromosomal rearrangementsGenomic imbalancesCommon aneuploidiesNumber variantsCellular proliferationIntegrated fishGenomic hybridizationFishSitu hybridizationStructural rearrangementsReflex FISHStructural chromosomal abnormalitiesSex chromosome aneuploidyACGH analysisChromosome aneuploidyAneuploidyCell culturesHybridization
2018
Jumping Translocations of 1q in Myelodysplastic Syndrome and Acute Myeloid Leukemia: Report of Three Cases and Review of Literature
Couture T, Amato K, DiAdamo A, Li P. Jumping Translocations of 1q in Myelodysplastic Syndrome and Acute Myeloid Leukemia: Report of Three Cases and Review of Literature. Case Reports In Genetics 2018, 2018: 8296478. PMID: 30271640, PMCID: PMC6151220, DOI: 10.1155/2018/8296478.Peer-Reviewed Original ResearchCitationsConceptsAcute myeloid leukemiaMyelodysplastic syndromeReview of literatureJumping translocationMyeloid leukemiaCases of MDSMore recipient chromosomesProgression of MDSInitial diagnosisPoor prognosisClinical significanceLate progressionHigh riskPatient careCytogenetic findingsOverall treatmentSyndromeLeukemiaProgressionCell lineagesChromosome 1qGenomic defectsChromosomal instabilityAdditional structural rearrangementsTranslocation
2016
Spectrum of Cytogenomic Abnormalities Revealed by Array Comparative Genomic Hybridization on Products of Conception Culture Failure and Normal Karyotype Samples
Zhou Q, Wu SY, Amato K, DiAdamo A, Li P. Spectrum of Cytogenomic Abnormalities Revealed by Array Comparative Genomic Hybridization on Products of Conception Culture Failure and Normal Karyotype Samples. Journal Of Genetics And Genomics 2016, 43: 121-131. PMID: 27020032, DOI: 10.1016/j.jgg.2016.02.002.Peer-Reviewed Original ResearchCitationsMeSH Keywords and ConceptsConceptsCopy number variantsIngenuity Pathway AnalysisPathogenic copy number variantsDosage-sensitive genesCell proliferation pathwaysGenomic copy number variantsArray comparative genomic hybridizationGene networksComparative genomic hybridization analysisComparative genomic hybridizationPathway analysisGenomic hybridization analysisChromosomal abnormalitiesHybridization analysisProliferation pathwaysArray comparative genomic hybridization analysisNumber variantsGenomic hybridizationSitu hybridizationGenesHybridizationCytogenomic abnormalitiesCulture successPolyploidySensitive mechanism