2012
Phenotype diversity in type 1 Gaucher disease: discovering the genetic basis of Gaucher disease/hematologic malignancy phenotype by individual genome analysis
Lo SM, Choi M, Liu J, Jain D, Boot RG, Kallemeijn WW, Aerts JM, Pashankar F, Kupfer GM, Mane S, Lifton RP, Mistry PK. Phenotype diversity in type 1 Gaucher disease: discovering the genetic basis of Gaucher disease/hematologic malignancy phenotype by individual genome analysis. Blood 2012, 119: 4731-4740. PMID: 22493294, PMCID: PMC3367875, DOI: 10.1182/blood-2011-10-386862.Peer-Reviewed Original ResearchConceptsGenome analysisGenetic basisCancer phenotypeWhole exome captureNovel mutationsGenomic analysisPhenotype annotationsPhenotype diversityParallel sequencingHomozygosity mappingT-cell acute lymphoblastic lymphomaGenetic modifiersNovel insightsGene sequencingGaucher diseaseMalignancy phenotypeMutationsLysosomal accumulationPhenotypeHomozygous novel mutationPathogenic mutationsGenesMSH6 proteinsSequencingEnzyme studies
2011
Prospective Evaluation of Acute Graft-Versus-Host Disease
Aslanian H, Chander B, Robert M, Cooper D, Proctor D, Seropian S, Jain D. Prospective Evaluation of Acute Graft-Versus-Host Disease. Digestive Diseases And Sciences 2011, 57: 720-725. PMID: 22011927, DOI: 10.1007/s10620-011-1938-x.Peer-Reviewed Original ResearchConceptsAcute GVHDHost diseaseLower endoscopyRectal biopsyDiagnostic yieldGastrointestinal tractAllogeneic bone marrow transplantationAcute Graft-VersusCases of GVHDLower gastrointestinal involvementOptimal endoscopic approachDiagnosis of GVHDNon-specific symptomsStem cell transplantationBone marrow transplantationUpper gastrointestinal tractLower gastrointestinal tractUpper intestinal tractMajority of casesColonic GVHDGastrointestinal GVHDGastrointestinal involvementGraft-VersusGVHD casesIntestinal GVHD