2022
193 Arachnoid Cysts as Genetically-encoded Harbingers of Neurodevelopmental Pathology
Kundishora A, Kiziltug E, Allington G, Allocco A, Smith H, Ocken J, Moreno-De-Luca A, DiLuna M, Jin S, Kahle K. 193 Arachnoid Cysts as Genetically-encoded Harbingers of Neurodevelopmental Pathology. Neurosurgery 2022, 68: 58-58. DOI: 10.1227/neu.0000000000001880_193.Peer-Reviewed Original ResearchGene expressionGene setsScRNAseq datasetsWhole-exome sequencingSingle-cell RNA sequencing dataExome-wide significanceCell type relationshipsMultiple epigenetic regulatorsRNA sequencing dataMulti-omics approachExome sequencingChromatin remodelingEpigenetic regulationMRNA processingPhenomic analysisEpigenetic regulatorsPhenomics techniquesIntegrative genomicsSequencing dataSignificant enrichmentGenesFirst insightPhenotypic clustersNovo variantsNovel associations
2020
Integrative Genomics Implicates Genetic Disruption of Prenatal Neurogenesis in Congenital Hydrocephalus
Panchagnula S, Jin S, Dong W, Kundishora A, Moreno-De-Luca A, Furey C, Allocco A, Walker R, Nelson-Williams C, Smith H, Dunbar A, Conine S, Lu Q, Zen X, Sierant M, Knight J, Sullivan W, Phan D, DeSpenza T, Reeves B, Karimy J, Marlier A, Castaldi C, Tikhonova I, Li B, Peña; H, Broach J, Kabachelor E, Ssenyonga P, Hehnly C, Ge L, Keren B, Timberlake A, Goto J, Mangano F, Johnston J, Butler W, Warf B, Smith E, Schiff S, Limbrick D, Heuer G, Jackson E, Iskandar B, Mane S, Haider S, Guclu B, Bayri Y, Sahin Y, Duncan C, Apuzzo M, DiLuna M, Hoffman E, Sestan N, Ment L, Alper S, Bilguvar K, Geschwind D, Günel M, Lifton R, Kahle K. Integrative Genomics Implicates Genetic Disruption of Prenatal Neurogenesis in Congenital Hydrocephalus. Neurosurgery 2020, 67 DOI: 10.1093/neuros/nyaa447_572.Peer-Reviewed Original Research