Featured Publications
Mutations in TMPRSS6 cause iron-refractory iron deficiency anemia (IRIDA)
Finberg KE, Heeney MM, Campagna DR, Aydınok Y, Pearson HA, Hartman KR, Mayo MM, Samuel SM, Strouse JJ, Markianos K, Andrews NC, Fleming MD. Mutations in TMPRSS6 cause iron-refractory iron deficiency anemia (IRIDA). Nature Genetics 2008, 40: 569-571. PMID: 18408718, PMCID: PMC3104019, DOI: 10.1038/ng.130.Peer-Reviewed Original ResearchConceptsIron-refractory iron deficiency anemiaIron deficiency anemia refractoryChronic blood lossOral iron therapyInadequate dietary intakeIron deficiency anemiaIron regulatory hormone hepcidinSystemic iron homeostasisAnemia refractoryIron therapyBlood lossDeficiency anemiaDietary intakeType II transmembrane serine proteaseTransmembrane serine proteaseHormone hepcidinIron deficiencyGermline mutationsTMPRSS6Iron homeostasisSerine proteasesAnemiaTherapyHepcidinMutations
2023
Hepatocellular Adenoma: Report of 2 Cases That Highlight the Relevance of Phenotype-Genotype Correlation in the Pediatric Population
Jiao J, Finberg K, Jain D, Morotti R. Hepatocellular Adenoma: Report of 2 Cases That Highlight the Relevance of Phenotype-Genotype Correlation in the Pediatric Population. Pediatric And Developmental Pathology 2023, 26: 394-403. PMID: 37334553, DOI: 10.1177/10935266231175426.Peer-Reviewed Case Reports and Technical NotesConceptsHepatocellular adenomaPediatric populationInflammatory HCASonic hedgehog hepatocellular adenomasYoung type 3Maturity-onset diabetesInflammatory hepatocellular adenomaΒ-catenin-activated hepatocellular adenomaAbernethy malformationPhenotype-genotype correlationClinical historyHCA subtypesH-HCACase 2Case 1Type 3Pathological informationB-HCASubtypesFamily surveillanceLimited studiesMales
2013
Iron Refractory Iron Deficiency Anemia: Presentation With Hyperferritinemia and Response to Oral Iron Therapy
Khuong-Quang DA, Schwartzentruber J, Westerman M, Lepage P, Finberg KE, Majewski J, Jabado N. Iron Refractory Iron Deficiency Anemia: Presentation With Hyperferritinemia and Response to Oral Iron Therapy. Pediatrics 2013, 131: e620-e625. PMID: 23319530, PMCID: PMC3675830, DOI: 10.1542/peds.2012-1303.Peer-Reviewed Case Reports and Technical NotesMeSH KeywordsAdministration, OralAdolescentAnemia, HypochromicAnemia, Iron-DeficiencyAnemia, RefractoryChildChild, PreschoolChromosome AberrationsDNA Mutational AnalysisExomeFemaleFerritinsFollow-Up StudiesGenetic Carrier ScreeningGenotypeHumansIronLong-Term CareMaleMembrane ProteinsMutation, MissenseSerine EndopeptidasesConceptsIron deficiency anemiaIron-refractory iron deficiency anemiaOral iron therapyWhole-exome sequencingOral ironIron therapyDeficiency anemiaChildhood iron deficiency anemiaExome sequencingUnusual clinical presentationParenteral iron administrationSpectrum of diseaseIron regulatory genesSevere microcytic anemiaAutosomal recessive disorderAnemia refractoryBiological presentationClinical presentationInitial presentationIron administrationAnemiaMicrocytic anemiaGenetic testingHyperferritinemiaHeterozygous mutations
2009
Iron-Refractory Iron Deficiency Anemia
Finberg KE. Iron-Refractory Iron Deficiency Anemia. Seminars In Hematology 2009, 46: 378-386. PMID: 19786206, DOI: 10.1053/j.seminhematol.2009.06.006.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsMeSH KeywordsAdministration, OralAnemia, Iron-DeficiencyAnemia, RefractoryAntimicrobial Cationic PeptidesChildChild, PreschoolFemaleGPI-Linked ProteinsHematinicsHemochromatosis ProteinHepcidinsHumansInfantInfusions, ParenteralIronIron CompoundsLiverMaleMembrane ProteinsMutationSerine EndopeptidasesTreatment FailureUp-RegulationConceptsIron-refractory iron deficiency anemiaIron deficiency anemiaDeficiency anemiaOral iron treatmentParenteral iron therapyAutosomal recessive disorderIron therapyClinical presentationRecent studiesHepcidin expressionIron absorptionIRIDA patientsTransmembrane serine proteaseIron treatmentAnemiaElevated levelsRecessive disorderHepcidinLiverDisordersTMPRSS6Serine proteases
1999
Localization of a Gene for Autosomal Recessive Distal Renal Tubular Acidosis with Normal Hearing ( rdRTA2 ) to 7q33-34
Karet F, Finberg K, Nayir A, Bakkaloglu A, Ozen S, Hulton S, Sanjad S, Al-Sabban E, Medina J, Lifton R. Localization of a Gene for Autosomal Recessive Distal Renal Tubular Acidosis with Normal Hearing ( rdRTA2 ) to 7q33-34. American Journal Of Human Genetics 1999, 65: 1656-1665. PMID: 10577919, PMCID: PMC1288376, DOI: 10.1086/302679.Peer-Reviewed Original ResearchMeSH KeywordsAcidosis, Renal TubularAdenosine TriphosphatasesAdultAnion Transport ProteinsAntiportersChildChild, PreschoolChromosome MappingChromosomes, Human, Pair 2Chromosomes, Human, Pair 7ConsanguinityDNA Mutational AnalysisFemaleGenes, RecessiveHearingHumansHydrogen-Ion ConcentrationInfantInfant, NewbornLod ScoreMaleMembrane ProteinsMiddle EastMolecular Sequence DataPakistanPedigreePolymorphism, Single-Stranded ConformationalSLC4A ProteinsConceptsDistal renal tubular acidosesSensorineural hearing lossNormal hearingProgressive bilateral sensorineural hearing lossBilateral sensorineural hearing lossAutosomal recessive distal renal tubular acidosisDistal renal tubular acidosisRecessive distal renal tubular acidosisSevere metabolic acidosisRenal tubular acidosisRenal tubular acidosesMetabolic acidosisTubular acidosisRenal calcificationHearing lossAlkaline urineATP6B1Distal nephronImpaired hearingApical proton pumpChildhood featuresAcidosisOne-thirdMolecular examinationHearing
1996
Genetic Heterogeneity of Inherited Cerebral Cavernous Malformation
Günel M, Awad I, Finberg K, Steinberg G, Craig H, Cepeda O, Nelson-Williams C, Lifton R. Genetic Heterogeneity of Inherited Cerebral Cavernous Malformation. Neurosurgery 1996, 38: 1265-1271. DOI: 10.1227/00006123-199606000-00059.Peer-Reviewed Original ResearchConceptsGenetic analysisCauses of CCMsCerebral cavernous malformationsHuman chromosome 7Second geneIndependent inheritanceMutant geneChromosome 7Genetic markersGenesLong armGenetic heterogeneityMutationsCavernous malformationsInheritanceFamilyAutosomal dominant transmissionClinical featuresGenetic testingDominant transmissionKindredsMarkersNon-Hispanic familiesMalformationsDisordersGenetic heterogeneity of inherited cerebral cavernous malformation.
Günel M, Awad I, Finberg K, Steinberg G, Craig H, Cepeda O, Carol N, Lifton R. Genetic heterogeneity of inherited cerebral cavernous malformation. Neurosurgery 1996, 38: 1265-71. PMID: 8727164, DOI: 10.1097/00006123-199606000-00059.Peer-Reviewed Original ResearchConceptsGenetic analysisCauses of CCMsCerebral cavernous malformationsHuman chromosome 7Second geneIndependent inheritanceMutant geneChromosome 7Genetic markersGenesLong armGenetic heterogeneityMutationsCavernous malformationsInheritanceFamilyAutosomal dominant transmissionClinical featuresGenetic testingDominant transmissionKindredsMarkersNon-Hispanic familiesMalformationsDisordersA Founder Mutation as a Cause of Cerebral Cavernous Malformation in Hispanic Americans
Günel M, Awad I, Finberg K, Anson J, Steinberg G, Batjer H, Kopitnik T, Morrison L, Giannotta S, Nelson-Williams C, Lifton R. A Founder Mutation as a Cause of Cerebral Cavernous Malformation in Hispanic Americans. New England Journal Of Medicine 1996, 334: 946-951. PMID: 8596595, DOI: 10.1056/nejm199604113341503.Peer-Reviewed Original ResearchConceptsCavernous malformationsCerebral cavernous malformationsSporadic casesFamilial diseaseSame mutationSporadic cavernous malformationsDevelopment of symptomsHispanic AmericansCerebral hemorrhageVascular diseaseAsymptomatic carriersHigh prevalenceClinical casesMalformationsDiseaseFounder mutationPatientsAge dependenceAffected membersKindredsMarkersMexican descentEthnic groupsMutationsSame allele