Duy Phan, PhD
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Biography
Duy is an MD/PhD student at Yale interested in functional genomics, developmental neurobiology, and pediatric neurosurgery. Duy previously majored in neuroscience at Johns Hopkins University, where he was a Goldwater Scholar and Woodrow Wilson Research Fellow. His NIH F30-funded PhD work, co-mentored by Kristopher Kahle and Nenad Sestan, focused on understanding the molecular genetic mechanisms of developmental brain disorders using unbiased functional genomic approaches in human patients paired with hypothesis-driven neurobiology studies in animal models. Duy's works have led to new understanding of genes involved in formation of the brain-cerebrospinal fluid interface and the embryological mechanisms underlying hydrocephalus, the most common reason for brain surgery in children. His findings have led to first-authored publications in Nature Neuroscience and Neuron and contributing author publications in Nature, Nature Medicine, Journal of Cell Biology, JAMA Neurology, and JAMA Pediatrics. Duy's long-term goals are to define the cellular and molecular pathology of nervous system disorders to thereby develop precision medicine approaches for the care of patients with developmental neurocranial malformations.
Google Scholar: https://scholar.google.com/cit...
PubMed: https://pubmed.ncbi.nlm.nih.go...
Departments & Organizations
- Kahle Lab
Education & Training
- PhD
- Yale University School of Medicine, Neuroscience (2021)
- BS
- Johns Hopkins University, Neuroscience (2018)
Research
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Overview
Medical Research Interests
Research at a Glance
Yale Co-Authors
Publications Timeline
Research Interests
Adam Joseph Kundishora
Former YSMStephanie Robert
Former YSMMurat Günel, MD, FACS, FAHA, FAANS
Suel-Kee Kim
Yutaka Takeo, PhD
Alvaro Duque, PhD
Brain
Cerebral Ventricles
Publications
2022
A neural stem cell paradigm of pediatric hydrocephalus
Duy PQ, Rakic P, Alper SL, Robert SM, Kundishora AJ, Butler WE, Walsh CA, Sestan N, Geschwind DH, Jin SC, Kahle KT. A neural stem cell paradigm of pediatric hydrocephalus. Cerebral Cortex 2022, 33: 4262-4279. PMID: 36097331, PMCID: PMC10110448, DOI: 10.1093/cercor/bhac341.Peer-Reviewed Original ResearchCitationsAltmetricMeSH Keywords and ConceptsConceptsPediatric hydrocephalusPrimary treatment strategyOptimal surgical managementDevelopmental brain malformationsAnimal model studiesSurgical managementCerebral ventricleCSF diversionVentricular distentionHydrocephalic childrenTreatment strategiesBrain malformationsNeurodevelopmental disabilitiesGerminal neuroepitheliumHydrocephalusStem cell paradigmNeural stem cell fateRecent human geneticBrain surgeryCSF circulationBrain ventriclesCSF volumeNeuroprogenitor cellsBrain defectsCSF homeostasisCellular recovery after prolonged warm ischaemia of the whole body
Andrijevic D, Vrselja Z, Lysyy T, Zhang S, Skarica M, Spajic A, Dellal D, Thorn SL, Duckrow RB, Ma S, Duy PQ, Isiktas AU, Liang D, Li M, Kim SK, Daniele SG, Banu K, Perincheri S, Menon MC, Huttner A, Sheth KN, Gobeske KT, Tietjen GT, Zaveri HP, Latham SR, Sinusas AJ, Sestan N. Cellular recovery after prolonged warm ischaemia of the whole body. Nature 2022, 608: 405-412. PMID: 35922506, PMCID: PMC9518831, DOI: 10.1038/s41586-022-05016-1.Peer-Reviewed Original ResearchCitationsAltmetricMeSH Keywords and ConceptsConceptsSingle-nucleus transcriptomic analysesSpecific gene expression patternsCellular recoveryGene expression patternsCellular processesMammalian cellsTranscriptomic analysisLarge mammalsExpression patternsCellular repair processesCell deathComprehensive resourceUnderappreciated potentialPhysiological challengesTissue integrityRepair processSpecific changesPorcine brainMammalsOrgansMultiple organsMolecular genetics of human developmental neurocranial anomalies: towards “precision surgery”
Duy PQ, Timberlake AT, Lifton RP, Kahle KT. Molecular genetics of human developmental neurocranial anomalies: towards “precision surgery”. Cerebral Cortex 2022, 33: 2912-2918. PMID: 35739418, PMCID: PMC10016031, DOI: 10.1093/cercor/bhac249.Peer-Reviewed Original ResearchCitationsAltmetricMeSH Keywords and ConceptsConceptsFuture clinical trialsSurgical treatmentClinical trialsCongenital hydrocephalusWhole-exome sequencing studiesDisease classification systemDevelopmental anomaliesNeuropsychiatric diseasesNonsyndromic craniosynostosisGenetic counselingPrecision surgeryHuman brainNovel disease genesClassification systemMolecular nomenclatureSequencing studiesHydrocephalusSurgeryPathogenesisTherapyMolecular geneticsPrognosticationDiseaseTrialsBrainRare pathogenic variants in WNK3 cause X-linked intellectual disability
Küry S, Zhang J, Besnard T, Caro-Llopis A, Zeng X, Robert SM, Josiah SS, Kiziltug E, Denommé-Pichon AS, Cogné B, Kundishora AJ, Hao LT, Li H, Stevenson RE, Louie RJ, Deb W, Torti E, Vignard V, McWalter K, Raymond FL, Rajabi F, Ranza E, Grozeva D, Coury SA, Blanc X, Brischoux-Boucher E, Keren B, Õunap K, Reinson K, Ilves P, Wentzensen IM, Barr EE, Guihard SH, Charles P, Seaby EG, Monaghan KG, Rio M, van Bever Y, van Slegtenhorst M, Chung WK, Wilson A, Quinquis D, Bréhéret F, Retterer K, Lindenbaum P, Scalais E, Rhodes L, Stouffs K, Pereira EM, Berger SM, Milla SS, Jaykumar AB, Cobb MH, Panchagnula S, Duy PQ, Vincent M, Mercier S, Gilbert-Dussardier B, Le Guillou X, Audebert-Bellanger S, Odent S, Schmitt S, Boisseau P, Bonneau D, Toutain A, Colin E, Pasquier L, Redon R, Bouman A, Rosenfeld JA, Friez MJ, Pérez-Peña H, Akhtar Rizvi SR, Haider S, Antonarakis SE, Schwartz CE, Martínez F, Bézieau S, Kahle KT, Isidor B. Rare pathogenic variants in WNK3 cause X-linked intellectual disability. Genetics In Medicine 2022, 24: 1941-1951. PMID: 35678782, DOI: 10.1016/j.gim.2022.05.009.Peer-Reviewed Original ResearchCitationsAltmetricMeSH Keywords and ConceptsConceptsPathogenic missense variantsMissense variantsIntellectual disabilityCation-chloride cotransportersGenome sequenceCatalytic domainInhibitory phosphorylationStructural brain abnormalitiesStructural brain defectsRare pathogenic variantsLarge familyWNK3Synaptic inhibitionCotransporter KCC2Brain abnormalitiesRare formPathogenic mechanismsDifferent familiesSporadic formsPathogenic variantsBrain defectsUnrelated familiesAffected individualsKCC2EpilepsyAngiographic Pulse Wave Coherence in the Human Brain
Koch MJ, Duy PQ, Grannan BL, Patel AB, Raymond SB, Agarwalla PK, Kahle KT, Butler WE. Angiographic Pulse Wave Coherence in the Human Brain. Frontiers In Bioengineering And Biotechnology 2022, 10: 873530. PMID: 35592552, PMCID: PMC9110661, DOI: 10.3389/fbioe.2022.873530.Peer-Reviewed Original ResearchCitationsAltmetricConceptsCerebral angiogramDiagnostic cerebral angiogramIntact human brainHuman brainRigid craniumPathophysiologic disturbancesArterial anatomyVenous bloodStroke volumeArterial bloodCardiac ratePhysiologic mechanismsHuman patientsNeurological pathologiesEquivalent volumePulse waveBrainAngiogramsCardiac cycleBloodFluoroscopic imagesVolume displacementFirst direct evidencePatientsArteryImpaired neurogenesis alters brain biomechanics in a neuroprogenitor-based genetic subtype of congenital hydrocephalus
Duy PQ, Weise SC, Marini C, Li XJ, Liang D, Dahl PJ, Ma S, Spajic A, Dong W, Juusola J, Kiziltug E, Kundishora AJ, Koundal S, Pedram MZ, Torres-Fernández LA, Händler K, De Domenico E, Becker M, Ulas T, Juranek SA, Cuevas E, Hao LT, Jux B, Sousa AMM, Liu F, Kim SK, Li M, Yang Y, Takeo Y, Duque A, Nelson-Williams C, Ha Y, Selvaganesan K, Robert SM, Singh AK, Allington G, Furey CG, Timberlake AT, Reeves BC, Smith H, Dunbar A, DeSpenza T, Goto J, Marlier A, Moreno-De-Luca A, Yu X, Butler WE, Carter BS, Lake EMR, Constable RT, Rakic P, Lin H, Deniz E, Benveniste H, Malvankar NS, Estrada-Veras JI, Walsh CA, Alper SL, Schultze JL, Paeschke K, Doetzlhofer A, Wulczyn FG, Jin SC, Lifton RP, Sestan N, Kolanus W, Kahle KT. Impaired neurogenesis alters brain biomechanics in a neuroprogenitor-based genetic subtype of congenital hydrocephalus. Nature Neuroscience 2022, 25: 458-473. PMID: 35379995, PMCID: PMC9664907, DOI: 10.1038/s41593-022-01043-3.Peer-Reviewed Original ResearchCitationsAltmetricMeSH Keywords and ConceptsConceptsCongenital hydrocephalusCerebral ventricular dilatationPrimary defectNeuroepithelial cell differentiationRisk genesCerebrospinal fluid homeostasisWhole-exome sequencingNeuroepithelial stem cellsCortical hypoplasiaReduced neurogenesisVentricular dilatationVentricular enlargementCH mutationsPrenatal hydrocephalusDisease heterogeneityBrain surgeryCSF circulationHydrocephalusGenetic subtypesFluid homeostasisNeuroepithelial cellsNovo mutationsBrain transcriptomicsStem cellsCell differentiation
2021
Genomics of human congenital hydrocephalus
Kundishora AJ, Singh AK, Allington G, Duy PQ, Ryou J, Alper SL, Jin SC, Kahle KT. Genomics of human congenital hydrocephalus. Child's Nervous System 2021, 37: 3325-3340. PMID: 34232380, DOI: 10.1007/s00381-021-05230-8.Peer-Reviewed Original ResearchCitationsAltmetricMeSH Keywords and ConceptsConceptsCongenital hydrocephalusBrain developmentPoor neurodevelopmental outcomesRecent whole-exome sequencing studiesPost-surgical patientsHuman congenital hydrocephalusPathogenesis of hydrocephalusCerebrospinal fluid accumulationDamaging de novoPrimary pathomechanismEarly brain developmentNeural stem cell growthNeurodevelopmental outcomesOutcome prognosticationHuman brain developmentCSF diversionTreatment stratificationWhole-exome sequencing studiesFluid accumulationBrain ventriclesClinical toolHydrocephalusGenetic counselingDisease mechanismsSubstantial minorityExome Sequencing as a Potential Diagnostic Adjunct in Sporadic Congenital Hydrocephalus
Sullivan W, Reeves BC, Duy PQ, Nelson-Williams C, Dong W, Jin SC, Kahle KT. Exome Sequencing as a Potential Diagnostic Adjunct in Sporadic Congenital Hydrocephalus. JAMA Pediatrics 2021, 175: 310-313. PMID: 33196764, PMCID: PMC7670396, DOI: 10.1001/jamapediatrics.2020.4878.Peer-Reviewed Original ResearchCitationsAltmetricMeSH Keywords and ConceptsA novel signature predicts recurrence risk and therapeutic response in breast cancer patients
Tran QH, Than VT, Luu PL, Clarke D, Lam HN, Nguyen T, Nguyen D, Duy PQ, Phung D, Nguyen MN. A novel signature predicts recurrence risk and therapeutic response in breast cancer patients. International Journal Of Cancer 2021, 148: 2848-2856. PMID: 33586202, DOI: 10.1002/ijc.33512.Peer-Reviewed Original ResearchCitationsAltmetricMeSH Keywords and ConceptsMeSH KeywordsAcetylserotonin O-MethyltransferaseBreast NeoplasmsDatabases, GeneticFemaleGene Expression ProfilingGene Expression Regulation, NeoplasticHumansNeoplasm GradingOligonucleotide Array Sequence AnalysisRetrospective StudiesSequence Analysis, RNASurvival AnalysisTamoxifenTreatment OutcomeUp-RegulationConceptsBreast cancer patientsAcetylserotonin O-methyltransferaseEndocrine therapyCancer patientsASMT expressionRelapse-free survival outcomesMetastasis-free survival timeLonger metastasis-free survival timesLow-risk casesBreast cancer progressionBreast cancer tumorsAdjuvant chemotherapyOverall survivalTamoxifen treatmentEndocrine resistanceDistance recurrenceMRNA array dataRetrospective studySurvival outcomesTherapeutic responseBreast cancerSurvival timePatientsRecurrence riskSynthesis of melatoninOpioid use and spinal cord stimulation therapy: The long game
Hwang BY, Negoita S, Duy PQ, Tesay Y, Anderson WS. Opioid use and spinal cord stimulation therapy: The long game. Journal Of Clinical Neuroscience 2021, 84: 50-52. PMID: 33485599, DOI: 10.1016/j.jocn.2020.12.004.Peer-Reviewed Original ResearchCitationsMeSH Keywords and ConceptsConceptsMorphine equivalent dosageSpinal cord stimulationSCS implantationOpioid requirementsCertain chronic pain disordersPre-operative risk assessmentSpinal cord stimulation therapyDaily opioid consumptionOpioid consumption patternsOpioid-naïve patientsPre-operative baselineChronic pain disordersRigorous patient selectionPost-operative evaluationOpioid consumptionOpioid statusNaïve patientsOpioid usageMost patientsOpioid useSCS therapyPain disordersPatient selectionTreatment failureCord stimulation
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