2021
Bone marrow transplant using fludarabine‐based reduced intensity conditioning regimen with in vivo T cell depletion in patients with Fanconi anemia
Gorfinkel L, Demsky C, Pashankar F, Kupfer G, Shah NC. Bone marrow transplant using fludarabine‐based reduced intensity conditioning regimen with in vivo T cell depletion in patients with Fanconi anemia. Pediatric Transplantation 2021, 25: e14009. PMID: 33755277, DOI: 10.1111/petr.14009.Peer-Reviewed Original ResearchConceptsUnrelated donor transplantsDonor transplantsBM graftsVivo T-cell depletionReduced intensity conditioning regimenStem cell transplant programInclusion of alemtuzumabNon-TBI conditioningPost-transplant complicationsSuccess of HSCTDevelopment of GVHDT-cell depletionIntensity conditioning regimenBone marrow transplantFull immune reconstitutionChronic GVHDCyclophosphamide conditioningGVHD prophylaxisMSD transplantsImmune reconstitutionConditioning regimenLate complicationsConditioning regimensSecondary neoplasmsSecondary malignancies
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