Arati Khanna-Gupta
Associate Research ScientistCards
About
Research
Publications
2026
A Novel Intronic Deletion Causing “Deficiency in ELF4, X-Linked”
Bauman B, Kumar D, Khanna-Gupta A, Kribis M, Begtrup A, Lopez E, Lucas C. A Novel Intronic Deletion Causing “Deficiency in ELF4, X-Linked”. Journal Of Human Immunity 2026, 2 DOI: 10.70962/cis2026abstract.120.Peer-Reviewed Original ResearchPatient-derived peripheral blood mononuclear cellsPremature stop codonLoss-of-functionDNA binding activitySplicing outcomesIntronic regionsExon 5Trio whole-exome sequencingNonsense-mediated decayPartial intron retentionX-linked expressionFour-nucleotide deletionDe novo deletionWhole-exome sequencingCD8+ T-cell blastsPeripheral blood mononuclear cellsMonogenic autoinflammatory disordersT cell blastsBlood mononuclear cellsSplice donor regionGenomic regionsIntron retentionNanopore sequencingStop codonNonsense mutation
2024
In a cohort of 961 clinically suspected Duchenne muscular dystrophy patients, 105 were diagnosed to have other muscular dystrophies (OMDs), with LGMD2E (variant SGCB c.544A>C) being the most common
Karthikeyan P, Kumar S, Khanna‐Gupta A, Raman L. In a cohort of 961 clinically suspected Duchenne muscular dystrophy patients, 105 were diagnosed to have other muscular dystrophies (OMDs), with LGMD2E (variant SGCB c.544A>C) being the most common. Molecular Genetics & Genomic Medicine 2024, 12: e2123. PMID: 39548682, PMCID: PMC11568062, DOI: 10.1002/mgg3.2123.Peer-Reviewed Original ResearchConceptsLimb-girdle muscular dystrophyDuchene muscular dystrophyMuscular dystrophyDuchenne muscular dystrophy patientsPercentage of patientsAutosomal recessive diseaseMuscular dystrophy patientsCharcot Marie ToothNegative patientsCongenital myopathiesDeletion/duplication analysisNext generation sequencing analysisDiagnosed patientsDystrophy patientsRecessive diseaseSevere formPatientsDystrophyLimb girdlesGenetic variantsPrevention strategiesVariant casesPoint mutationsSGCB geneFounder effect