Benjamin Landis, MD
Associate Professor TermCards
About
Research
Publications
2026
Rapid Genome Sequencing Shows Diagnostic Utility in Infants With Congenital Heart Defects
Durbin M, Helvaty L, Posorske A, Zhang S, Huang M, Li M, Abreu D, Fairman K, Geddes G, Helm B, Landis B, McEntire A, Mitchell D, Ware S. Rapid Genome Sequencing Shows Diagnostic Utility in Infants With Congenital Heart Defects. Circulation Genomic And Precision Medicine 2026, 19: e005367. PMID: 41958385, DOI: 10.1161/circgen.125.005367.Peer-Reviewed Original ResearchRapid genome sequencingCongenital heart diseaseGenetic testingChromosomal microarrayCongenital heart defectsGenome sequenceGenetic causeHeart defectsChromosomeGenetic diagnosisHospitalized infantsBirth defectsPatient managementDiagnostic utilityHeart diseaseTesting modalitiesPatient subtypesClinical practiceMicroarrayTime pointsTesting guidelinesPatientsInfantsFrequent testingInfant mortality
2025
Combined genome and transcriptome analysis identifies molecular signatures of aortic disease in patients with Marfan syndrome
Stanley K, Mederos A, Barksdale E, Corvera J, Davis J, Fang F, Gao H, Vujakovich C, Liu Y, Ware S, Landis B. Combined genome and transcriptome analysis identifies molecular signatures of aortic disease in patients with Marfan syndrome. Journal Of Molecular And Cellular Cardiology Plus 2025, 13: 100467. PMID: 40678173, PMCID: PMC12269431, DOI: 10.1016/j.jmccpl.2025.100467.Peer-Reviewed Original ResearchSingle nucleotide variantsMRNA-seq analysisGenome sequenceSmooth muscle cellsMRNA-seqSubtype of smooth muscle cellsTranscriptional impactTranscriptome analysisMissense single nucleotide variantsMarfan syndromeMRNA-seq readsExpression profilesDisease-causing variantsWhole-exon deletionsSingle-cell expression profilesMolecular signaturesExtracellular matrix processesSingle-cell gene expression profilingGene expression profilesCombined genomeNucleotide variantsTranscriptome dataMRNA sequencesSmooth muscle cell subtypesTranscriptional dysregulationDysmorphology-Based Prediction Model for Genetic Disorders in Infants With Congenital Heart Disease
Helm B, Wetherill L, Landis B, Ware S. Dysmorphology-Based Prediction Model for Genetic Disorders in Infants With Congenital Heart Disease. Circulation Genomic And Precision Medicine 2025, 18: e004895. PMID: 40151936, PMCID: PMC11999770, DOI: 10.1161/circgen.124.004895.Peer-Reviewed Original ResearchConceptsCongenital heart diseaseDysmorphology scoresMultivariate logistic regression modelGenetic diagnosisLogistic regression modelsGenetic testingIsolated congenital heart diseaseGenetic disordersHeart diseaseCase-control studyRisk-stratifiedInpatient infantsClinical variablesFemale sexIncreased riskDysmorphologyPatientsRegression modelsDiagnosisGenetic evaluationInfantsCohortDisordersScoresDiseaseIdentification of Long Noncoding RNA Candidate Disease Genes Associated With Clinically Reported Copy Number Variants in Congenital Heart Disease
Penaloza J, Moreland B, Gaither J, Landis B, Ware S, McBride K, White P, Helvaty L, Geddes G, Hodge J, Garg V, Lo C, Yatsenko S, Lin J, Wechsler S, Lalani S. Identification of Long Noncoding RNA Candidate Disease Genes Associated With Clinically Reported Copy Number Variants in Congenital Heart Disease. Journal Of The American Heart Association 2025, 14: e039177. PMID: 40079339, PMCID: PMC12132622, DOI: 10.1161/jaha.124.039177.Peer-Reviewed Original ResearchConceptsCopy number variantsProtein-coding genesCongenital heart disease genesCongenital heart diseaseGene coexpression network analysisCoexpression network analysisCongenital heart disease pathogenesisGene regulatory networksHeart developmentHeart diseaseNetwork analysisNoncoding regionsGenomic analysisRegulatory networksCandidate genesGenetic characterizationFunctional enrichmentLong noncoding RNAsGenesNoncoding RNAsPathogenic rolePotential involvementDisease pathogenesisLncRNAsDiagnostic efforts
2024
Performance of Dysmorphology‐Based Screening for Genetic Disorders in Pediatric Congenital Heart Disease Supports Wider Genetic Testing
Helm B, Helvaty L, Conboy E, Geddes G, Graham B, Lah M, Wetherill L, Landis B, Ware S. Performance of Dysmorphology‐Based Screening for Genetic Disorders in Pediatric Congenital Heart Disease Supports Wider Genetic Testing. Molecular Genetics & Genomic Medicine 2024, 12: e70040. PMID: 39587733, PMCID: PMC11588853, DOI: 10.1002/mgg3.70040.Peer-Reviewed Original ResearchConceptsCongenital heart diseaseGenetic diagnosisGenetic testingChromosomal microarrayNegative predictive valuePositive predictive valueExtracardiac anomaliesGenetic disordersDysmorphic statusGenetic test resultsDysmorphology evaluationPhenotype-based screeningTest-negative case-control designCongenital heart disease patientsPediatric congenital heart diseaseCase-control designCHD cohortDysmorphic patientsPediatric patientsDysmorphology assessmentGenetic evaluationPatientsHeart diseaseScreening performanceDiagnosisA Novel Echocardiography Feature-Tracking Algorithm for Stabilized Frame-to-Frame Extraction of Aortic Root Diameters in the Parasternal Long Axis
Damen F, Ghajar-Rahimi E, Lai D, Goergen C, Landis B. A Novel Echocardiography Feature-Tracking Algorithm for Stabilized Frame-to-Frame Extraction of Aortic Root Diameters in the Parasternal Long Axis. Journal Of The American Society Of Echocardiography 2024, 38: 44-47. PMID: 39299353, PMCID: PMC11700755, DOI: 10.1016/j.echo.2024.09.005.Peer-Reviewed Original ResearchEarly ascertainment of genetic diagnoses clarifies impact on medium-term survival following neonatal congenital heart surgery
Landis B, Helm B, Durbin M, Helvaty L, Herrmann J, Johansen M, Geddes G, Ware S. Early ascertainment of genetic diagnoses clarifies impact on medium-term survival following neonatal congenital heart surgery. Journal Of Clinical Investigation 2024, 134: e180098. PMID: 39078715, PMCID: PMC11405028, DOI: 10.1172/jci180098.Peer-Reviewed Original ResearchSilencing COQ8B in Aortic Smooth Muscle Cells Reveals Cellular Dysfunction Related to Changes in Cell Proliferation
Davis J, Landis B. Silencing COQ8B in Aortic Smooth Muscle Cells Reveals Cellular Dysfunction Related to Changes in Cell Proliferation. Proceedings Of IMPRS 2024, 6 DOI: 10.18060/27779.Peer-Reviewed Original ResearchAortic smooth muscle cellsPathways related to cell proliferationSmooth muscle cellsThoracic aortic aneurysmGenetic modifiersCell proliferationCell cycle regulationCell cycle processCell proliferation pathwaysR packages edgeRMuscle cellsThoracic aortic aneurysm developmentGlobal transcriptionDNA replicationPrimary human aortic smooth muscle cellsDownstream analysisCycle regulationHuman aortic smooth muscle cellsTranscriptome analysisDownregulated genesClustering of samplesRNA samplesProliferation-related pathwaysSmooth muscle cell homeostasisIntact nucleiExploring a Transcriptome-forward Approach for Genetic Evaluation in Thoracic Aortopathy
Stanley K, Landis B. Exploring a Transcriptome-forward Approach for Genetic Evaluation in Thoracic Aortopathy. Proceedings Of IMPRS 2024, 6 DOI: 10.18060/27788.Peer-Reviewed Original ResearchGenome Analysis ToolkitIntegrative Genomics ViewerRNA-seq pipelinesRNA-seqVariant sitesTranscriptome analysisCoding regionGenome Analysis Toolkit pipelineRNA-seq readsPaired-end readsLikelihood of pathogenicitySingle nucleotide polymorphismsHigh-throughput detectionGenomics ViewerVariant callingNucleotide polymorphismsVariant analysisRNA sequencingThoracic aortic aneurysmHeterozygous variantsTotal RNADuplicate readsSmooth muscle cellsDisease causalityPrimary smooth muscle cells
2023
A Multicenter Analysis of Abnormal Chromosomal Microarray Findings in Congenital Heart Disease
Landis B, Helvaty L, Geddes G, Lin J, Yatsenko S, Lo C, Border W, Wechsler S, Murali C, Azamian M, Lalani S, Hinton R, Garg V, McBride K, Hodge J, Ware S. A Multicenter Analysis of Abnormal Chromosomal Microarray Findings in Congenital Heart Disease. Journal Of The American Heart Association 2023, 12: e029340. PMID: 37681527, PMCID: PMC10547279, DOI: 10.1161/jaha.123.029340.Peer-Reviewed Original ResearchConceptsCopy number variantsChromosomal microarray analysisCause of congenital heart diseaseSubmicroscopic copy number variantsCongenital heart diseaseGenomic disordersCardiac phenotypeSingle-gene CNVsClinical chromosomal microarray analysisGenetic causeMulticenter analysisRegions of homozygosityCHD typesAbnormal chromosomal microarray analysisGenotype-phenotype relationshipsGenotype-phenotype associationsHeart diseaseChromosomal microarray findingsLeft ventricular obstructionPediatric cardiac centerAbnormal test resultsConotruncal defectsSeptal defectMicroarray analysisVentricular obstruction