Featured Publications
Normalizing hepcidin predicts TMPRSS6 mutation status in patients with chronic iron deficiency
Heeney MM, Guo D, De Falco L, Campagna DR, Olbina G, Kao PP, Schmitz-Abe K, Rahimov F, Gutschow P, Westerman K, Ostland V, Jackson T, Klaassen R, Markianos K, Finberg KE, Iolascon A, Westerman M, London WB, Fleming MD. Normalizing hepcidin predicts TMPRSS6 mutation status in patients with chronic iron deficiency. Blood 2018, 132: 448-455. PMID: 29895660, PMCID: PMC6071554, DOI: 10.1182/blood-2017-03-773028.Peer-Reviewed Original Research
2021
Pathogenic BRCA2 germline variants in combined hepatocellular‐cholangiocarcinoma
Li H, Zhang X, Finberg KE, Walther Z, Jain D, Gibson J. Pathogenic BRCA2 germline variants in combined hepatocellular‐cholangiocarcinoma. Pathology International 2021, 72: 138-140. PMID: 34808016, DOI: 10.1111/pin.13188.Peer-Reviewed Original ResearchYale Cancer Center Precision Medicine Tumor Board: molecular findings alter a diagnosis and treatment plan
Gibson JA, Finberg KE, Nalbantoglu I, Cecchini M, Ganzak A, Walther Z, Sklar JL, Eder JP, Goldberg SB. Yale Cancer Center Precision Medicine Tumor Board: molecular findings alter a diagnosis and treatment plan. The Lancet Oncology 2021, 22: 306-307. PMID: 33662283, DOI: 10.1016/s1470-2045(20)30683-5.Peer-Reviewed Original Research
2020
Functional characterization of a novel SLC40A1 Arg88Ile mutation in a kindred with familial iron overload treated by phlebotomy
Womack J, Sukumaran A, Li X, Lozovatsky L, Gallagher PG, Seid JE, Finberg KE. Functional characterization of a novel SLC40A1 Arg88Ile mutation in a kindred with familial iron overload treated by phlebotomy. Blood Cells Molecules And Diseases 2020, 87: 102532. PMID: 33385755, PMCID: PMC8272917, DOI: 10.1016/j.bcmd.2020.102532.Peer-Reviewed Original ResearchMeSH KeywordsCation Transport ProteinsHumansIron OverloadMaleMiddle AgedModels, MolecularPhlebotomyPoint Mutation
2013
Fibrosis-Associated Single-Nucleotide Polymorphisms in TGFB1 and CAV1 Are Not Associated With the Development of Nephrogenic Systemic Fibrosis
Le LP, Garibyan L, Lara D, Finberg KE, Iafrate AJ, Duncan LM, Kay J, Nazarian RM. Fibrosis-Associated Single-Nucleotide Polymorphisms in TGFB1 and CAV1 Are Not Associated With the Development of Nephrogenic Systemic Fibrosis. American Journal Of Dermatopathology 2013, 35: 351-356. PMID: 23051628, DOI: 10.1097/dad.0b013e31826c5508.Peer-Reviewed Original ResearchMeSH KeywordsAdultAgedCase-Control StudiesCaveolin 1Chi-Square DistributionCodonContrast MediaFemaleFibrosisGadoliniumGene FrequencyGenetic Predisposition to DiseaseHumansIntronsMaleMiddle AgedMultivariate AnalysisNephrogenic Fibrosing DermopathyPhenotypePolymorphism, Single NucleotideRisk FactorsTransforming Growth Factor beta1ConceptsNephrogenic systemic fibrosisGadolinium-containing contrast agentsSingle nucleotide polymorphismsSystemic fibrosisDevelopment of NSFImpaired renal functionChronic kidney diseaseCohort of patientsSubset of patientsProgression of fibrosisRenal impairmentRenal functionKidney diseaseControl subjectsNSF casesHistological evidenceGenetic predispositionPatientsIntronic single nucleotide polymorphismOrgan systemsFibrosisGenotype frequenciesTGFB1Significant differencesDisease
2007
Mucinous Differentiation Correlates with Absence of EGFR Mutation and Presence of KRAS Mutation in Lung Adenocarcinomas with Bronchioloalveolar Features
Finberg KE, Sequist LV, Joshi VA, Muzikansky A, Miller JM, Han M, Beheshti J, Chirieac LR, Mark EJ, Iafrate AJ. Mucinous Differentiation Correlates with Absence of EGFR Mutation and Presence of KRAS Mutation in Lung Adenocarcinomas with Bronchioloalveolar Features. Journal Of Molecular Diagnostics 2007, 9: 320-326. PMID: 17591931, PMCID: PMC1899415, DOI: 10.2353/jmoldx.2007.060182.Peer-Reviewed Original ResearchMeSH KeywordsAdenocarcinoma, Bronchiolo-AlveolarAdenocarcinoma, MucinousAgedAged, 80 and overCell DifferentiationDisease ProgressionDNA Mutational AnalysisFemaleGene DosageGenes, erbB-1Genes, rasHumansIn Situ Hybridization, FluorescenceLung NeoplasmsMaleMiddle AgedMutationPrognosisRetrospective StudiesConceptsEpidermal growth factor receptor (EGFR) geneEGFR mutationsBronchioloalveolar carcinomaKRAS mutationsLung adenocarcinomaBronchioloalveolar featuresKRAS codon 12Mucinous patternNonmucinous tumorsClinical responseMucinous histologyMucinous tumorsGrowth factor receptor geneMucinous adenocarcinomaHistopathological featuresNonmucinous adenocarcinomaMucinous morphologyMucinous differentiationAdenocarcinomaFactor receptor geneCodon 12Kinase inhibitorsTumorsReceptor geneTKIs
2006
Case 40-2006 — A 64-Year-Old Man with Anemia and a Low Level of HDL Cholesterol
Cabot R, Harris N, Shepard J, Rosenberg E, Cort A, Ebeling S, Peters C, Murali M, Kratz A, Finberg K. Case 40-2006 — A 64-Year-Old Man with Anemia and a Low Level of HDL Cholesterol. New England Journal Of Medicine 2006, 355: 2772-2779. PMID: 17192544, DOI: 10.1056/nejmcpc069031.Peer-Reviewed Case Reports and Technical Notes
2004
Mapping a Mendelian Form of Intracranial Aneurysm to 1p34.3-p36.13
Nahed BV, Seker A, Guclu B, Ozturk AK, Finberg K, Hawkins AA, DiLuna ML, State M, Lifton RP, Gunel M. Mapping a Mendelian Form of Intracranial Aneurysm to 1p34.3-p36.13. American Journal Of Human Genetics 2004, 76: 172-179. PMID: 15540160, PMCID: PMC1196421, DOI: 10.1086/426953.Peer-Reviewed Original ResearchConceptsMendelian formsSimple tandem repeatsIdentification of pathwaysHigh penetranceSingle geneUnderlying genesSingle nucleotide polymorphismsSingle locusTandem repeatsCandidate intervalGenomewide studiesDisease locusAnalysis of linkageLOD scoreLociRare familiesSignificant linkageRelative pairsGenesDominant traitEnvironmental factorsLarge kindredPenetranceRepeatsTraits
1996
A 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