Engin Deniz, MD
Associate Professor of Pediatrics (Critical Care)Cards
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Pediatric Critical Care Medicine
PO Box 208064
New Haven, CT 06520-8064
United States
About
Titles
Associate Professor of Pediatrics (Critical Care)
Appointments
Pediatric Critical Care Medicine
Associate Professor on TermPrimary
Other Departments & Organizations
- Creed House Affiliates
- Deniz Lab
- Khokha Lab
- Molecular Medicine, Pharmacology, and Physiology
- Pediatric Critical Care Medicine
- Pediatric Critical Care Transport Program
- Pediatric Intensive Care Unit
- Pediatrics
- Program in Translational Biomedicine (PTB)
- Yale Combined Program in the Biological and Biomedical Sciences (BBS)
- Yale Medicine
Education & Training
- Fellowship
- Yale University School of Medicine (2012)
- Residency
- Cohen Children's Medical Center of New York (2009)
- MD
- University of Istanbul (2002)
Research
Overview
Medical Research Interests
ORCID
0000-0002-2999-0429- View Lab Website
Deniz Lab
Research at a Glance
Yale Co-Authors
Publications Timeline
Research Interests
Emily Kathryn Mis, PhD
Lauren Jeffries, DO
Ketu Mishra-Gorur, MSc, MS, PhD
Murat Günel, MD, FACS, FAHA, FAANS
Tyrone DeSpenza Jr, MD, PhD
Weizhen Ji, PhD, FACMG
Hydrocephalus
Congenital Abnormalities
Publications
2025
Novel Variants in VARS2 Demonstrate the Phenotypic Variability of a Rare Mitochondriopathy That Responds to Valine Supplementation
Marquez J, Viviano S, Rahman F, Strohbehn S, Allworth A, Perez N, Research U, Network U, Saneto R, Anna S, Portmann M, Blue E, Glass I, Deniz E, Shelkowitz E. Novel Variants in VARS2 Demonstrate the Phenotypic Variability of a Rare Mitochondriopathy That Responds to Valine Supplementation. Journal Of Inherited Metabolic Disease 2025, 48: e70053. PMID: 40563223, PMCID: PMC12303584, DOI: 10.1002/jimd.70053.Peer-Reviewed Original ResearchMeSH Keywords and ConceptsConceptsMitochondrial aminoacyl-tRNA synthetasesCognate tRNA moleculesPhenotypic variabilityAminoacyl-tRNA synthetasesXenopus modelBi-allelic variantsMitochondrial proteinsTRNA moleculesDiverse groupMitochondrial machineryLoss of functionNovel variantsResidual enzyme activityVARS2Mitochondrial functionMitochondrial encephalopathyValine supplementationEnzyme activityClinical phenotypeMitochondriopathyGenesVariantsModels of diseaseAxial hypotoniaAmino acid supplementationPrecision medicine in the pediatric and neonatal intensive care units through genomics
Duy P, Dylik B, Deniz E. Precision medicine in the pediatric and neonatal intensive care units through genomics. Current Opinion In Pediatrics 2025, 37: 211-215. PMID: 40298123, PMCID: PMC12055474, DOI: 10.1097/mop.0000000000001471.Peer-Reviewed Original ResearchMeSH Keywords and ConceptsConceptsNeonatal intensive care unitGenome-wide sequencing technologiesSingle nucleotide resolutionWhole-genome sequencingIntensive care unitGene therapyPrecision medicineNucleotide resolutionSequencing technologiesGenetic perturbationsGenomic medicineGenomic technologiesCare unitFDA-approved gene therapyGenetic associationGenetic diagnosisHuman disordersCritically Ill ChildrenOmics technologiesMolecular diagnosisGenetic conditionsDisease biologyClinically actionable findingsPathological workupDiagnostic adjunctPTEN mutations impair CSF dynamics and cortical networks by dysregulating periventricular neural progenitors
DeSpenza T, Kiziltug E, Allington G, Barson D, McGee S, O’Connor D, Robert S, Mekbib K, Nanda P, Greenberg A, Singh A, Duy P, Mandino F, Zhao S, Lynn A, Reeves B, Marlier A, Getz S, Nelson-Williams C, Shimelis H, Walsh L, Zhang J, Wang W, Prina M, OuYang A, Abdulkareem A, Smith H, Shohfi J, Mehta N, Dennis E, Reduron L, Hong J, Butler W, Carter B, Deniz E, Lake E, Constable R, Sahin M, Srivastava S, Winden K, Hoffman E, Carlson M, Gunel M, Lifton R, Alper S, Jin S, Crair M, Moreno-De-Luca A, Luikart B, Kahle K. PTEN mutations impair CSF dynamics and cortical networks by dysregulating periventricular neural progenitors. Nature Neuroscience 2025, 28: 536-557. PMID: 39994410, PMCID: PMC12038823, DOI: 10.1038/s41593-024-01865-3.Peer-Reviewed Original ResearchCitationsAltmetricMeSH Keywords and ConceptsConceptsNeural progenitor cellsCongenital hydrocephalusCSF dynamicsIncreased CSF productionDe novo mutationsFrequent monogenic causeEverolimus treatmentCSF shuntingNonsurgical treatmentPTEN mutationsAqueductal stenosisInhibitory interneuronsVentriculomegalyProgenitor cellsChoroid plexusMonogenic causeCortical networksIncreased SurvivalBrain ventriclesCortical deficitsNeural progenitorsGene PTENCSF productionNkx2.1PTENPolyamine metabolism is dysregulated in COXFA4-related mitochondrial disease
Marquez J, Viviano S, Beckman E, Thies J, Friedland-Little J, Lam C, Deniz E, Shelkowitz E. Polyamine metabolism is dysregulated in COXFA4-related mitochondrial disease. Human Genetics And Genomics Advances 2025, 6: 100418. PMID: 39967265, PMCID: PMC11946867, DOI: 10.1016/j.xhgg.2025.100418.Peer-Reviewed Original ResearchCitationsAltmetricConceptsOrnithine decarboxylase pathwayCytochrome c oxidaseMitochondrial diseaseCause of mitochondrial diseaseAnalysis of cellular gene expressionSubunits of cytochrome c oxidaseC oxidaseTissue-specific diseasesCellular gene expressionDeficiency of cytochrome c oxidaseLeigh-like diseaseElectron donor NADHDownstream deficienciesMitochondrial membraneProtein complexesCellular functionsOxidative phosphorylationProtein subunitsGene expressionMetabolic pathwaysPolyamine metabolismPathwayProteinPoor growthAdenosine triphosphate
2024
CC2D1A causes ciliopathy, intellectual disability, heterotaxy, renal dysplasia, and abnormal CSF flow
Kim A, Sakin I, Viviano S, Tuncel G, Aguilera S, Goles G, Jeffries L, Ji W, Lakhani S, Kose C, Silan F, Oner S, Kaplan O, Group M, Ergoren M, Mishra-Gorur K, Gunel M, Sag S, Temel S, Deniz E. CC2D1A causes ciliopathy, intellectual disability, heterotaxy, renal dysplasia, and abnormal CSF flow. Life Science Alliance 2024, 7: e202402708. PMID: 39168639, PMCID: PMC11339347, DOI: 10.26508/lsa.202402708.Peer-Reviewed Original ResearchCitationsAltmetricMeSH Keywords and ConceptsConceptsDevelopmental disabilitiesIntellectual disabilityPatient-derived fibroblastsMidbrain regionsBrain developmentDefective ciliogenesisCSF circulationDisabilityCSF flowAbnormal CSF flowNervous system developmentMutant tadpolesCiliated tissuesMultiple model systemsVariant functionPronephric ductUnrelated familiesCC2D1AExpression patternsCiliogenesisRenal dysplasiaLeft-right organizerFunctional analysisDisease mechanismsBrainPathogenic variants in autism gene KATNAL2 cause hydrocephalus and disrupt neuronal connectivity by impairing ciliary microtubule dynamics
DeSpenza T, Singh A, Allington G, Zhao S, Lee J, Kiziltug E, Prina M, Desmet N, Dang H, Fields J, Nelson-Williams C, Zhang J, Mekbib K, Dennis E, Mehta N, Duy P, Shimelis H, Walsh L, Marlier A, Deniz E, Lake E, Constable R, Hoffman E, Lifton R, Gulledge A, Fiering S, Moreno-De-Luca A, Haider S, Alper S, Jin S, Kahle K, Luikart B. Pathogenic variants in autism gene KATNAL2 cause hydrocephalus and disrupt neuronal connectivity by impairing ciliary microtubule dynamics. Proceedings Of The National Academy Of Sciences Of The United States Of America 2024, 121: e2314702121. PMID: 38916997, PMCID: PMC11228466, DOI: 10.1073/pnas.2314702121.Peer-Reviewed Original ResearchCitationsAltmetricMeSH Keywords and ConceptsConceptsCongenital hydrocephalusCerebral ventriculomegalyPathogenic variantsPrefrontal pyramidal neuronsGenetic subsets of patientsDevelopment of ventriculomegalyRadial gliaSubsets of patientsHigh-frequency firingNeuronal connectivityHeterozygous germline variantsAutism spectrum disorderVentricular-subventricular zoneMicrotubule dynamicsImpaired spermatogenesisCSF shuntingExcitatory driveMicrotubule-severing ATPasePyramidal neuronsDisrupt neuronal connectivityGermline variantsVentriculomegalyCSF homeostasisDisrupt microtubule dynamicsPlanar cell polarityReply to Pisan et al.: Pathogenicity of inherited TRAF7 mutations in congenital heart disease
Mishra-Gorur K, Barak T, Kaulen L, Henegariu O, Jin S, Aguilera S, Yalbir E, Goles G, Nishimura S, Miyagishima D, Djenoune L, Altinok S, K. D, Viviano S, Prendergast A, Zerillo C, Ozcan K, Baran B, Sencar L, Goc N, Yarman Y, Ercan-encicek A, Bilguvar K, Lifton R, Moliterno J, Louvi A, Yuan S, Deniz E, Brueckner M, Gunel M. Reply to Pisan et al.: Pathogenicity of inherited TRAF7 mutations in congenital heart disease. Proceedings Of The National Academy Of Sciences Of The United States Of America 2024, 121: e2319578121. PMID: 38466853, PMCID: PMC10963000, DOI: 10.1073/pnas.2319578121.Commentaries, Editorials and Letters
2023
A novel SMARCC1 BAFopathy implicates neural progenitor epigenetic dysregulation in human hydrocephalus
Singh A, Allington G, Viviano S, McGee S, Kiziltug E, Ma S, Zhao S, Mekbib K, Shohfi J, Duy P, DeSpenza T, Furey C, Reeves B, Smith H, Sousa A, Cherskov A, Allocco A, Nelson-Williams C, Haider S, Rizvi S, Alper S, Sestan N, Shimelis H, Walsh L, Lifton R, Moreno-De-Luca A, Jin S, Kruszka P, Deniz E, Kahle K. A novel SMARCC1 BAFopathy implicates neural progenitor epigenetic dysregulation in human hydrocephalus. Brain 2023, 147: 1553-1570. PMID: 38128548, PMCID: PMC10994532, DOI: 10.1093/brain/awad405.Peer-Reviewed Original ResearchCitationsAltmetricConceptsAqueductal stenosisDe novo variantsCardiac defectsCerebral ventriculomegalyPatient cohortFetal brain transcriptomeStructural brain disordersTranscription factor NeuroD2Large patient cohortCorpus callosum abnormalitiesHuman fetal brainOptical coherence tomographyWhole-exome sequencingNeural stem cellsCH patientsHuman hydrocephalusControl cohortClinical managementCommon disorderCallosum abnormalitiesFetal brainBrain disordersBrain surgeryCH pathogenesisPatientsCFAP45, a heterotaxy and congenital heart disease gene, affects cilia stability
Deniz E, Pasha M, Guerra M, Viviano S, Ji W, Konstantino M, Jeffries L, Lakhani S, Medne L, Skraban C, Krantz I, Khokha M. CFAP45, a heterotaxy and congenital heart disease gene, affects cilia stability. Developmental Biology 2023, 499: 75-88. PMID: 37172641, PMCID: PMC10373286, DOI: 10.1016/j.ydbio.2023.04.006.Peer-Reviewed Original ResearchCitationsAltmetricMeSH Keywords and ConceptsConceptsLeft-right organizerCilia stabilityLeft-right patterningCongenital heart disease genesApical surfaceCell apical surfaceLive confocal imagingLeftward fluid flowHeart disease genesRecessive missense mutationLethal birth defectMotile monociliaProtein familyEarly embryogenesisMulticiliated cellsCiliary axonemeDisease genesFrog embryosGenetic underpinningsWhole-exome sequencingMissense mutationsConfocal imagingEmbryosCiliaCongenital heart diseasePleiotropic role of TRAF7 in skull-base meningiomas and congenital heart disease
Mishra-Gorur K, Barak T, Kaulen L, Henegariu O, Jin S, Aguilera S, Yalbir E, Goles G, Nishimura S, Miyagishima D, Djenoune L, Altinok S, K. D, Viviano S, Prendergast A, Zerillo C, Ozcan K, Baran B, Sencar L, Goc N, Yarman Y, Ercan-Sencicek A, Bilguvar K, Lifton R, Moliterno J, Louvi A, Yuan S, Deniz E, Brueckner M, Gunel M. Pleiotropic role of TRAF7 in skull-base meningiomas and congenital heart disease. Proceedings Of The National Academy Of Sciences Of The United States Of America 2023, 120: e2214997120. PMID: 37043537, PMCID: PMC10120005, DOI: 10.1073/pnas.2214997120.Peer-Reviewed Original ResearchCitationsAltmetricMeSH Keywords and ConceptsConceptsWild-type proteinInherited mutationsCardiac outflow tractDevelopmental heart defectsProtein functionLack ciliaPleiotropic rolesMechanistic convergenceNeural crestCiliary defectsSomatic variantsForebrain meningesCommon originDominant mannerMutationsTRAF7ZebrafishMutantsDisparate pathologiesHeterodimerizationKnockdownGeneticsProteinCiliaCongenital heart
Clinical Trials
Current Trials
Pediatric Genomics Discovery Program (PGDP)
HIC ID1411014977RoleSub InvestigatorPrimary Completion Date12/31/2023Recruiting ParticipantsGenderBoth
Academic Achievements & Community Involvement
Honors
honor The Mae Gailani Junior Faculty Award
07/01/2024Yale School of Medicine AwardDepartment of PediatricsDetailsUnited Stateshonor Innovator Award
07/01/2019National AwardHydrocephalus AssociationDetailsUnited States
Clinical Care
Overview
Engin Deniz, MD, is a pediatric critical care specialist who says he thrives on taking care of children—and families—during some of their most trying times.
“In the Pediatric Intensive Care Unit, we care for patients who are sickest,” Dr. Deniz says. “When a child is struggling because of a birth defect or because of a severe infection or something else that can be life-threatening, just to be next to them and help them is the most appealing aspect of my job.”
When a child comes into the ICU, the entire family becomes part of the medical team and is actively involved in making decisions, Dr. Deniz says. “Here at Yale New Haven Children’s Hospital, parents ‘round’ [when various specialists discuss a patient’s medical care] with us,” he says. “Sometimes, care is adjusted and modified based on a parent’s wishes. A child’s well-being goes hand in hand with a parent’s. This is the tradition here, and it works great.”
Dr. Deniz’s research focuses on understanding the genetics of hydrocephalus, a birth defect in which fluid builds up deep inside the cavities, or ventricles, of the brain. He is also an assistant professor of pediatric critical care at Yale School of Medicine.
Clinical Specialties
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Contacts
Pediatric Critical Care Medicine
PO Box 208064
New Haven, CT 06520-8064
United States
Administrative Support
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Patient Care Locations
Are You a Patient? View this doctor's clinical profile on the Yale Medicine website for information about the services we offer and making an appointment.