2022
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 geneticsPrognosticationDiseaseTrialsBrain
2021
Genomic approaches to improve the clinical diagnosis and management of patients with congenital hydrocephalus.
Allington G, Duy PQ, Ryou J, Singh A, Kiziltug E, Robert SM, Kundishora AJ, King S, Haider S, Kahle KT, Jin SC. Genomic approaches to improve the clinical diagnosis and management of patients with congenital hydrocephalus. Journal Of Neurosurgery Pediatrics 2021, 29: 168-177. PMID: 34715668, DOI: 10.3171/2021.8.peds21368.Peer-Reviewed Original ResearchManagement of patientsCongenital hydrocephalusFuture clinical trialsCongenital brain disordersOutcome prognosticationUnderlying pathogenesisClinical trialsCurative strategiesTreatment stratificationIncomplete clearanceDiagnostic adjunctPatient benefitClinical practiceBrain disordersBrain ventriclesClinical diagnosisGenetic counselingHuman genetic studiesHydrocephalusPatientsPathogenesisNeurosurgical communitySubsequent enlargementRecent findingsMolecular nomenclature