Molecular 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 ResearchConceptsFuture clinical trialsSurgical treatmentClinical trialsCongenital hydrocephalusWhole-exome sequencing studiesDisease classification systemDevelopmental anomaliesNeuropsychiatric diseasesNonsyndromic craniosynostosisGenetic counselingPrecision surgeryHuman brainNovel disease genesClassification systemMolecular nomenclatureSequencing studiesHydrocephalusSurgeryPathogenesisTherapyMolecular geneticsPrognosticationDiseaseTrialsBrainAngiographic 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 ResearchCerebral angiogramDiagnostic cerebral angiogramIntact human brainHuman brainRigid craniumPathophysiologic disturbancesArterial anatomyVenous bloodStroke volumeArterial bloodCardiac ratePhysiologic mechanismsHuman patientsNeurological pathologiesEquivalent volumePulse waveBrainAngiogramsCardiac cycleBloodFluoroscopic imagesVolume displacementFirst direct evidencePatientsArtery