Featured Publications
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 alleleGenomic Analysis of Non-NF2 Meningiomas Reveals Mutations in TRAF7, KLF4, AKT1, and SMO
Clark VE, Erson-Omay EZ, Serin A, Yin J, Cotney J, Özduman K, Avşar T, Li J, Murray PB, Henegariu O, Yilmaz S, Günel JM, Carrión-Grant G, Yılmaz B, Grady C, Tanrıkulu B, Bakırcıoğlu M, Kaymakçalan H, Caglayan AO, Sencar L, Ceyhun E, Atik AF, Bayri Y, Bai H, Kolb LE, Hebert RM, Omay SB, Mishra-Gorur K, Choi M, Overton JD, Holland EC, Mane S, State MW, Bilgüvar K, Baehring JM, Gutin PH, Piepmeier JM, Vortmeyer A, Brennan CW, Pamir MN, Kılıç T, Lifton RP, Noonan JP, Yasuno K, Günel M. Genomic Analysis of Non-NF2 Meningiomas Reveals Mutations in TRAF7, KLF4, AKT1, and SMO. Science 2013, 339: 1077-1080. PMID: 23348505, PMCID: PMC4808587, DOI: 10.1126/science.1233009.Peer-Reviewed Original ResearchMeSH KeywordsAdultAgedAged, 80 and overBrain NeoplasmsChromosomes, Human, Pair 22DNA Mutational AnalysisFemaleGenes, Neurofibromatosis 2Genomic InstabilityGenomicsHumansKruppel-Like Factor 4Kruppel-Like Transcription FactorsMaleMeningeal NeoplasmsMeningiomaMiddle AgedMutationNeoplasm GradingProto-Oncogene Proteins c-aktReceptors, G-Protein-CoupledSmoothened ReceptorTumor Necrosis Factor Receptor-Associated Peptides and Proteins
2024
APOE ε4 and Intracerebral Hemorrhage in Patients With Brain Arteriovenous Malformation
Renedo D, Rivier C, Koo A, Sujijantarat N, Clocchiatti-Tuozzo S, Wu K, Torres-Lopez V, Huo S, Gunel M, de Havenon A, Sheth K, Matouk C, Falcone G. APOE ε4 and Intracerebral Hemorrhage in Patients With Brain Arteriovenous Malformation. JAMA Network Open 2024, 7: e2355368. PMID: 38363572, PMCID: PMC10873768, DOI: 10.1001/jamanetworkopen.2023.55368.Peer-Reviewed Original ResearchConceptsApolipoprotein E e4Participants of European ancestryRisk of intracerebral hemorrhageHigh risk of intracerebral hemorrhageCross-sectional studyUK BiobankEuropean ancestryHigh riskUs Research ProgramUK Biobank participantsInternational Classification of DiseasesAssociated with higher risk of ICHCross-sectional study of patientsAPOE e4 statusClassification of DiseasesApolipoprotein ENinth Revision and Tenth RevisionAssociated with higher riskIndividual-level dataMultivariate logistic regressionIntracerebral hemorrhage riskBrain arteriovenous malformationsIntracerebral hemorrhageBiobank participantsTenth Revision
2021
DIAPH1 Variants in Non–East Asian Patients With Sporadic Moyamoya Disease
Kundishora AJ, Peters ST, Pinard A, Duran D, Panchagnula S, Barak T, Miyagishima DF, Dong W, Smith H, Ocken J, Dunbar A, Nelson-Williams C, Haider S, Walker RL, Li B, Zhao H, Thumkeo D, Marlier A, Duy PQ, Diab NS, Reeves BC, Robert SM, Sujijantarat N, Stratman AN, Chen YH, Zhao S, Roszko I, Lu Q, Zhang B, Mane S, Castaldi C, López-Giráldez F, Knight JR, Bamshad MJ, Nickerson DA, Geschwind DH, Chen SL, Storm PB, Diluna ML, Matouk CC, Orbach DB, Alper SL, Smith ER, Lifton RP, Gunel M, Milewicz DM, Jin SC, Kahle KT. DIAPH1 Variants in Non–East Asian Patients With Sporadic Moyamoya Disease. JAMA Neurology 2021, 78: 993-1003. PMID: 34125151, PMCID: PMC8204259, DOI: 10.1001/jamaneurol.2021.1681.Peer-Reviewed Original ResearchConceptsSporadic moyamoya diseaseMoyamoya diseaseValidation cohortDiscovery cohortIntracranial internal carotid arteryRisk genesBilateral moyamoya diseaseTransfusion-dependent thrombocytopeniaLarger validation cohortNon-East Asian patientsInternal carotid arteryAsian individualsCompound heterozygous variantsNon-East AsiansProgressive vasculopathyTransmitted variantsAsian patientsChildhood strokeMedical recordsCarotid arteryTherapeutic ramificationsMAIN OUTCOMEMouse brain tissuePatientsUS hospitalsClinical characteristics and outcomes for 7,995 patients with SARS-CoV-2 infection
McPadden J, Warner F, Young HP, Hurley NC, Pulk RA, Singh A, Durant TJS, Gong G, Desai N, Haimovich A, Taylor RA, Gunel M, Dela Cruz CS, Farhadian SF, Siner J, Villanueva M, Churchwell K, Hsiao A, Torre CJ, Velazquez EJ, Herbst RS, Iwasaki A, Ko AI, Mortazavi BJ, Krumholz HM, Schulz WL. Clinical characteristics and outcomes for 7,995 patients with SARS-CoV-2 infection. PLOS ONE 2021, 16: e0243291. PMID: 33788846, PMCID: PMC8011821, DOI: 10.1371/journal.pone.0243291.Peer-Reviewed Original ResearchConceptsSARS-CoV-2 infectionYale New Haven HealthSARS-CoV-2Hospital mortalityRisk of admissionMale sexRisk factorsSARS-CoV-2 testingInvasive mechanical ventilationSevere acute respiratory syndrome virusBurden of diseaseRT-PCR testingAcademic health systemDiverse patient populationsRespiratory syndrome virusEthnic groupsAdult patientsClinical characteristicsDischarge dispositionRespiratory supportPrimary outcomeTreatment guidelinesMechanical ventilationRetrospective studyPatient populationGenetically Determined Smoking Behavior and Risk of Nontraumatic Subarachnoid Hemorrhage
Acosta JN, Szejko N, Both CP, Vanent K, Noche RB, Gill TM, Matouk CC, Sheth KN, Gunel M, Falcone GJ. Genetically Determined Smoking Behavior and Risk of Nontraumatic Subarachnoid Hemorrhage. Stroke 2021, 52: 582-587. PMID: 33440997, PMCID: PMC7856108, DOI: 10.1161/strokeaha.120.031622.Peer-Reviewed Original ResearchMeSH KeywordsAdultAgedDatabases, FactualElectronic Health RecordsFemaleGenetic Predisposition to DiseaseGenetic VariationHumansIntracranial AneurysmMaleMendelian Randomization AnalysisMiddle AgedMultifactorial InheritanceOdds RatioRisk AssessmentSelf ReportSmokingStrokeSubarachnoid HemorrhageTreatment OutcomeUnited KingdomNeuroinvasion of SARS-CoV-2 in human and mouse brain
Song E, Zhang C, Israelow B, Lu-Culligan A, Prado AV, Skriabine S, Lu P, Weizman OE, Liu F, Dai Y, Szigeti-Buck K, Yasumoto Y, Wang G, Castaldi C, Heltke J, Ng E, Wheeler J, Alfajaro MM, Levavasseur E, Fontes B, Ravindra NG, Van Dijk D, Mane S, Gunel M, Ring A, Kazmi SAJ, Zhang K, Wilen CB, Horvath TL, Plu I, Haik S, Thomas JL, Louvi A, Farhadian SF, Huttner A, Seilhean D, Renier N, Bilguvar K, Iwasaki A. Neuroinvasion of SARS-CoV-2 in human and mouse brain. Journal Of Experimental Medicine 2021, 218: e20202135. PMID: 33433624, PMCID: PMC7808299, DOI: 10.1084/jem.20202135.Peer-Reviewed Original ResearchConceptsSARS-CoV-2Central nervous systemSARS-CoV-2 neuroinvasionImmune cell infiltratesCOVID-19 patientsType I interferon responseMultiple organ systemsCOVID-19I interferon responseHuman brain organoidsNeuroinvasive capacityCNS infectionsCell infiltrateNeuronal infectionPathological featuresCortical neuronsRespiratory diseaseDirect infectionCerebrospinal fluidNervous systemMouse brainInterferon responseOrgan systemsHuman ACE2Infection
2020
Genetically Elevated LDL Associates with Lower Risk of Intracerebral Hemorrhage
Falcone GJ, Kirsch E, Acosta JN, Noche RB, Leasure A, Marini S, Chung J, Selim M, Meschia JF, Brown DL, Worrall BB, Tirschwell DL, Jagiella JM, Schmidt H, Jimenez‐Conde J, Fernandez‐Cadenas I, Lindgren A, Slowik A, Gill D, Holmes M, Phuah C, Petersen NH, Matouk CN, Gunel M, Sansing L, Bennett D, Chen Z, Sun LL, Clarke R, Walters RG, Gill TM, Biffi A, Kathiresan S, Langefeld CD, Woo D, Rosand J, Sheth KN, Anderson CD, Consortium F. Genetically Elevated LDL Associates with Lower Risk of Intracerebral Hemorrhage. Annals Of Neurology 2020, 88: 56-66. PMID: 32277781, PMCID: PMC7523882, DOI: 10.1002/ana.25740.Peer-Reviewed Original ResearchConceptsIntracerebral hemorrhagePolygenic risk scoresLDL cholesterolLower riskTotal cholesterolICH riskLow-density lipoprotein cholesterol levelsRisk of ICHLipoprotein cholesterol levelsPotential causal roleMendelian randomization analysisAnn NeurolLDL levelsCholesterol levelsICH casesObservational studySD increaseSignificant single nucleotide polymorphismsRisk scoreSignificant associationCholesterolMR analysisInverse correlationRandomization analysisSingle nucleotide polymorphisms
2017
Use of telomerase promoter mutations to mark specific molecular subsets with reciprocal clinical behavior in IDH mutant and IDH wild-type diffuse gliomas.
Akyerli CB, Yüksel Ş, Can Ö, Erson-Omay EZ, Oktay Y, Coşgun E, Ülgen E, Erdemgil Y, Sav A, von Deimling A, Günel M, Yakıcıer MC, Pamir MN, Özduman K. Use of telomerase promoter mutations to mark specific molecular subsets with reciprocal clinical behavior in IDH mutant and IDH wild-type diffuse gliomas. Journal Of Neurosurgery 2017, 128: 1102-1114. PMID: 28621624, DOI: 10.3171/2016.11.jns16973.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAdultAge FactorsAgedAged, 80 and overBrain NeoplasmsCohort StudiesDNA Mutational AnalysisFemaleGenetic MarkersGliomaHumansIsocitrate DehydrogenaseKaplan-Meier EstimateKi-67 AntigenMaleMiddle AgedMutationPromoter Regions, GeneticSurvival AnalysisTelomeraseTreatment OutcomeYoung AdultConceptsMolecular subsetsIDH-wt gliomasIDH wild-type diffuse gliomasDiffuse gliomasIDH-mut gliomasClinical behaviorTERTp-mutHigh Ki-67 labeling indexKi-67 labeling indexDouble-negative subsetObjective Recent studiesClinical tumor behaviorDifferent tumor biologySpecific molecular subsetsTERT promoter mutationsEpidermal growth factor receptorTensin homolog (PTEN) mutationsTelomerase promoter mutationsCumulative followGrowth factor receptorSurgical cohortMalignant degenerationClinical parametersHistopathological diagnosisCombined statusLongitudinal analysis of treatment-induced genomic alterations in gliomas
Erson-Omay EZ, Henegariu O, Omay SB, Harmancı AS, Youngblood MW, Mishra-Gorur K, Li J, Özduman K, Carrión-Grant G, Clark VE, Çağlar C, Bakırcıoğlu M, Pamir MN, Tabar V, Vortmeyer AO, Bilguvar K, Yasuno K, DeAngelis LM, Baehring JM, Moliterno J, Günel M. Longitudinal analysis of treatment-induced genomic alterations in gliomas. Genome Medicine 2017, 9: 12. PMID: 28153049, PMCID: PMC5290635, DOI: 10.1186/s13073-017-0401-9.Peer-Reviewed Original ResearchMeSH KeywordsAntineoplastic AgentsChromosome AberrationsCombined Modality TherapyDisease ProgressionDNA Mismatch RepairDNA Mutational AnalysisDNA, NeoplasmExomeFemaleGeneral SurgeryGenome, HumanGenomicsGlioblastomaHumansImmunotherapyLongitudinal StudiesMiddle AgedMutationNeoplasm Recurrence, LocalPrecision MedicineRadiotherapyTreatment OutcomeConceptsWhole-exome sequencingMismatch repair deficiencyImmune checkpoint inhibitionMalignant brain tumorsMolecular changesLongitudinal analysisMedian survivalCheckpoint inhibitionSubsequent recurrenceMaximal resectionStandard treatmentBackgroundGlioblastoma multiformeBrain tumorsTumor-normal pairsFavorable responsePrimary GBMIndividual tumorsConclusionsOur studyPrecision therapyPersonalized treatmentGenomic profilingRepair deficiencyGenomic alterationsGenomic profilesTherapy
2016
Familial occurrence of brain arteriovenous malformation: a novel ACVRL1 mutation detected by whole exome sequencing.
Yılmaz B, Toktaş ZO, Akakın A, Işık S, Bilguvar K, Kılıç T, Günel M. Familial occurrence of brain arteriovenous malformation: a novel ACVRL1 mutation detected by whole exome sequencing. Journal Of Neurosurgery 2016, 126: 1879-1883. PMID: 27611203, DOI: 10.3171/2016.6.jns16665.Peer-Reviewed Original ResearchConceptsBrain arteriovenous malformationsHereditary hemorrhagic telangiectasiaWhole-exome sequencingArteriovenous malformationsExome sequencingWhole-exome sequencing analysisSpinal arteriovenous malformationsDiagnostic classification schemesExome sequencing analysisComprehensive genomic characterizationConclusion Study resultsCranial MRIDirect Sanger sequencingHemorrhagic telangiectasiaBlood samplesFamilial occurrenceHeterozygous mutationsACVRL1 mutationsPatientsThree SiblingsFourth siblingVariant segregationSanger sequencingMalformationsSiblingsIDH-mutant glioma specific association of rs55705857 located at 8q24.21 involves MYC deregulation
Oktay Y, Ülgen E, Can Ö, Akyerli CB, Yüksel Ş, Erdemgil Y, Durası İ, Henegariu OI, Nanni EP, Selevsek N, Grossmann J, Erson-Omay EZ, Bai H, Gupta M, Lee W, Turcan Ş, Özpınar A, Huse JT, Sav MA, Flanagan A, Günel M, Sezerman OU, Yakıcıer MC, Pamir MN, Özduman K. IDH-mutant glioma specific association of rs55705857 located at 8q24.21 involves MYC deregulation. Scientific Reports 2016, 6: 27569. PMID: 27282637, PMCID: PMC4901315, DOI: 10.1038/srep27569.Peer-Reviewed Original ResearchMeSH KeywordsAdultAgedAllelesBiomarkers, TumorFemaleGene Expression Regulation, NeoplasticGenetic Association StudiesGenetic Predisposition to DiseaseGliomaHumansIsocitrate DehydrogenaseKaplan-Meier EstimateMaleMiddle AgedMutationNeoplasm GradingNeoplasm ProteinsPolymorphism, Single NucleotideProteomicsProto-Oncogene Proteins c-mycSequence Analysis, RNAConceptsCase-control studySubtype-specific differencesMYC deregulationSystemic cancerCNS tumorsHealthy controlsAllele carriersLC-MS/MS comparisonModulatory effectsCartilaginous tumorsControl studyPositive modulationUnderlying causeGliomasIDH-mutant gliomasObserved associationsGlioma developmentSomatic mutationsDriver genesAssociationRs55705857RNA sequencingMolecular mechanismsSpecific associationMYC promoter
2014
Exceptional aggressiveness of cerebral cavernous malformation disease associated with PDCD10 mutations
Shenkar R, Shi C, Rebeiz T, Stockton RA, McDonald DA, Mikati AG, Zhang L, Austin C, Akers AL, Gallione CJ, Rorrer A, Gunel M, Min W, Marcondes de Souza J, Lee C, Marchuk DA, Awad IA. Exceptional aggressiveness of cerebral cavernous malformation disease associated with PDCD10 mutations. Genetics In Medicine 2014, 17: 188-196. PMID: 25122144, PMCID: PMC4329119, DOI: 10.1038/gim.2014.97.Peer-Reviewed Original ResearchMeSH Keywords1-(5-Isoquinolinesulfonyl)-2-MethylpiperazineAdolescentAdultAnimalsApoptosis Regulatory ProteinsCarrier ProteinsCells, CulturedCentral Nervous System NeoplasmsChildChild, PreschoolDisease Models, AnimalHemangioma, Cavernous, Central Nervous SystemHuman Umbilical Vein Endothelial CellsHumansInfantIntracellular Signaling Peptides and ProteinsKeratin-1Membrane ProteinsMiceMiddle AgedMutationProspective StudiesProto-Oncogene ProteinsRho-Associated KinasesStress FibersYoung AdultConceptsCerebral cavernous malformation diseaseRho-kinase activityLesion burdenExceptional aggressivenessCerebral cavernous malformation lesionsSporadic cerebral cavernous malformationBrain vascular permeabilityPreclinical therapeutic testingDesign of trialsPotential therapeutic targetCerebral cavernous malformationsClinical manifestationsBrain permeabilityEndothelial stress fibersSkin lesionsVascular permeabilityCavernous malformationsTherapeutic targetTherapeutic testingFrequent hemorrhagesKinase activityClinical phenotypeClinical counselingHeterozygous miceEndothelial cells
2013
Vessel Wall Magnetic Resonance Imaging Identifies the Site of Rupture in Patients With Multiple Intracranial AneurysmsProof of Principle
Matouk CC, Mandell DM, Günel M, Bulsara KR, Malhotra A, Hebert R, Johnson MH, Mikulis DJ, Minja FJ. Vessel Wall Magnetic Resonance Imaging Identifies the Site of Rupture in Patients With Multiple Intracranial AneurysmsProof of Principle. Neurosurgery 2013, 72: 492-496. PMID: 23151622, DOI: 10.1227/neu.0b013e31827d1012.Peer-Reviewed Original ResearchConceptsAneurysmal subarachnoid hemorrhageSite of ruptureSubarachnoid hemorrhageMultiple intracranial aneurysmsMR-VWIHigh-resolution magnetic resonance vessel wall imagingIntracranial aneurysmsSteno-occlusive cerebrovascular diseaseVessel wall magnetic resonance imagingMR imaging findingsVessel wall enhancementMagnetic resonance vessel wall imagingMagnetic resonance imagingVessel wall imagingDefinitive treatmentCerebrovascular diseaseImaging findingsMedical recordsRuptured aneurysmsUnruptured aneurysmsPatientsAneurysmsWall enhancementResonance imagingRupture
2012
Intracranial Aneurysm Risk Locus 5q23.2 Is Associated with Elevated Systolic Blood Pressure
Gaál EI, Salo P, Kristiansson K, Rehnström K, Kettunen J, Sarin AP, Niemelä M, Jula A, Raitakari OT, Lehtimäki T, Eriksson JG, Widen E, Günel M, Kurki M, von und zu Fraunberg M, Jääskeläinen JE, Hernesniemi J, Järvelin MR, Pouta A, , Newton-Cheh C, Salomaa V, Palotie A, Perola M. Intracranial Aneurysm Risk Locus 5q23.2 Is Associated with Elevated Systolic Blood Pressure. PLOS Genetics 2012, 8: e1002563. PMID: 22438818, PMCID: PMC3305343, DOI: 10.1371/journal.pgen.1002563.Peer-Reviewed Original ResearchMeSH KeywordsAdultBlood PressureChromosomes, Human, Pair 5Cohort StudiesFemaleFinlandGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansIntracranial AneurysmMaleMiddle AgedMuscle ProteinsMyocytes, Smooth MusclePolymorphism, Single NucleotideRisk FactorsTranscription FactorsZinc FingersConceptsSystolic blood pressureBlood pressureSystolic BPRisk factorsIntracranial aneurysmsElevated systolic blood pressurePopulation-based Finnish cohortsDiastolic blood pressureHigher systolic BPMean arterial pressureTraditional risk factorsVascular smooth muscle cellsStrong risk factorCommon risk factorsQuantitative outcome variablesVascular wall structureSmooth muscle cellsGenome-wide association studiesArterial pressureCerebral arteryPulse pressureFinnish cohortComplex diseasesMuscle cellsRisk alleles
2007
Complications from cervical intra-arterial heroin injection
DiLuna ML, Bydon M, Gunel M, Johnson MH. Complications from cervical intra-arterial heroin injection. Journal Of Neurology Neurosurgery & Psychiatry 2007, 78: 1198. PMID: 17940170, PMCID: PMC2117615, DOI: 10.1136/jnnp.2007.118752.Peer-Reviewed Original Research
2005
Expression of Structural Proteins and Angiogenic Factors in Normal Arterial and Unruptured and Ruptured Aneurysm Walls
Kılıc T, Sohrabifar M, Kurtkaya Ö, Yildirim Ö, Elmaci I, Günel M, Pamir MN. Expression of Structural Proteins and Angiogenic Factors in Normal Arterial and Unruptured and Ruptured Aneurysm Walls. Neurosurgery 2005, 57: 997-1007. PMID: 16284569, DOI: 10.1227/01.neu.0000180812.77621.6c.Peer-Reviewed Original ResearchConceptsStructural proteinsGrowth factorPattern of expressionCertain structural proteinsAngiogenic growth factorsLevel of expressionNormal vessel wallGrowth factor alpha expressionAngiogenic factorsProteinBiological mediatorsExpressionFibronectinVessel wallLamininNovel findingsIntracranial aneurysm formationPairs of specimensAneurysmal specimensTissue groupsFormationMediatorsHypertension, age, and location predict rupture of small intracranial aneurysms.
Nahed BV, DiLuna ML, Morgan T, Ocal E, Hawkins AA, Ozduman K, Kahle KT, Chamberlain A, Amar AP, Gunel M. Hypertension, age, and location predict rupture of small intracranial aneurysms. Neurosurgery 2005, 57: 676-83; discussion 676-83. PMID: 16239879, DOI: 10.1227/01.neu.0000175549.96530.59.Peer-Reviewed Original ResearchConceptsUnruptured intracranial aneurysmsRisk factorsIntracranial aneurysmsSubarachnoid hemorrhageUnruptured aneurysmsMinimal long-term morbidityHistory of hypertensionNormal blood pressureLong-term morbidityTertiary medical centerAge of patientsAnterior circulation aneurysmsPosterior circulation aneurysmsSignificant risk factorsSignificant independent predictorsRupture of IAsMortality of treatmentLogistic regression modelsSmall intracranial aneurysmsHypertensive patientsIndependent predictorsPosterior circulationBlood pressureAneurysm characteristicsCurrent guidelines
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
2003
Clinicopathological Review: Giant Intraventricular Cavernous Malformation
Anderson RC, Connolly ES, Ozduman K, Laurans MS, Gunel M, Khandji A, Faust PL, Sisti MB. Clinicopathological Review: Giant Intraventricular Cavernous Malformation. Neurosurgery 2003, 53: 374-379. PMID: 12925254, DOI: 10.1227/01.neu.0000073533.52727.e4.Peer-Reviewed Original Research