Featured Publications
Neuronal impact of patient-specific aberrant NRXN1α splicing
Flaherty E, Zhu S, Barretto N, Cheng E, Deans PJM, Fernando MB, Schrode N, Francoeur N, Antoine A, Alganem K, Halpern M, Deikus G, Shah H, Fitzgerald M, Ladran I, Gochman P, Rapoport J, Tsankova NM, McCullumsmith R, Hoffman GE, Sebra R, Fang G, Brennand KJ. Neuronal impact of patient-specific aberrant NRXN1α splicing. Nature Genetics 2019, 51: 1679-1690. PMID: 31784728, PMCID: PMC7451045, DOI: 10.1038/s41588-019-0539-z.Peer-Reviewed Original ResearchMeSH KeywordsAlternative SplicingAnimalsAutism Spectrum DisorderBipolar DisorderCalcium-Binding ProteinsCase-Control StudiesDepressive Disorder, MajorFemaleGene ExpressionHeterozygoteHumansInduced Pluripotent Stem CellsMaleMiceNeural Cell Adhesion MoleculesProtein IsoformsSchizophreniaSequence Deletion
2015
Characterization of molecular and cellular phenotypes associated with a heterozygous CNTNAP2 deletion using patient-derived hiPSC neural cells
Lee I, Carvalho C, Douvaras P, Ho S, Hartley B, Zuccherato L, Ladran I, Siegel A, McCarthy S, Malhotra D, Sebat J, Rapoport J, Fossati V, Lupski J, Levy D, Brennand K. Characterization of molecular and cellular phenotypes associated with a heterozygous CNTNAP2 deletion using patient-derived hiPSC neural cells. Schizophrenia 2015, 1: 15019. PMID: 26985448, PMCID: PMC4789165, DOI: 10.1038/npjschz.2015.19.Peer-Reviewed Original ResearchClinical outcomesCNTNAP2 expressionHiPSC neural progenitor cellsDiscordant clinical outcomesHiPSC-derived neuronsOligodendrocyte precursor cellsNeural progenitor cellsContactin-associated proteinHuman neuronsAnimal modelsClinical settingGenetic deletionExpression patternsNeural cellsProgenitor cellsLarge heterozygous deletionsNeurodevelopmental disordersPrecursor cellsDisordersComplex disorderHeterozygous deletionSignificant differencesNeuronsStem cellsExon 14