Evelyn Lake, PhD
Cards
About
Research
Publications
2024
Pathogenic variants in autism gene KATNAL2 cause hydrocephalus and disrupt neuronal connectivity by impairing ciliary microtubule dynamics
DeSpenza T, Singh A, Allington G, Zhao S, Lee J, Kiziltug E, Prina M, Desmet N, Dang H, Fields J, Nelson-Williams C, Zhang J, Mekbib K, Dennis E, Mehta N, Duy P, Shimelis H, Walsh L, Marlier A, Deniz E, Lake E, Constable R, Hoffman E, Lifton R, Gulledge A, Fiering S, Moreno-De-Luca A, Haider S, Alper S, Jin S, Kahle K, Luikart B. Pathogenic variants in autism gene KATNAL2 cause hydrocephalus and disrupt neuronal connectivity by impairing ciliary microtubule dynamics. Proceedings Of The National Academy Of Sciences Of The United States Of America 2024, 121: e2314702121. PMID: 38916997, PMCID: PMC11228466, DOI: 10.1073/pnas.2314702121.Peer-Reviewed Original ResearchConceptsCongenital hydrocephalusCerebral ventriculomegalyPathogenic variantsPrefrontal pyramidal neuronsGenetic subsets of patientsDevelopment of ventriculomegalyRadial gliaSubsets of patientsHigh-frequency firingNeuronal connectivityHeterozygous germline variantsAutism spectrum disorderVentricular-subventricular zoneMicrotubule dynamicsImpaired spermatogenesisCSF shuntingExcitatory driveMicrotubule-severing ATPasePyramidal neuronsDisrupt neuronal connectivityGermline variantsVentriculomegalyCSF homeostasisDisrupt microtubule dynamicsPlanar cell polarity184 PTEN Mutations Portend Cerebral Ventriculomegaly With Autism-Like Deficits in Cortical Circuitry
DeSpenza T, Kizlitug E, Allington G, Barson D, O'Connor D, Robert S, Mekbib K, Singh A, Phan D, Nanda P, Mandino F, Constable T, Lake E, Carter B, Gunel M, Lifton R, Luikart B, Kahle K. 184 PTEN Mutations Portend Cerebral Ventriculomegaly With Autism-Like Deficits in Cortical Circuitry. Neurosurgery 2024, 70: 46-46. DOI: 10.1227/neu.0000000000002809_184.Peer-Reviewed Original ResearchWhole-exome sequencingFetal ventriculomegalyCongenital hydrocephalusExome sequencingChoroid plexus hyperplasiaMutated genesCa2+ imagingMutant mouse modelsPTEN mutantsHuman fetal brainPten mutant miceSporadic CHCerebral ventriculomegalyCSF diversionObstructive hydrocephalusCH patientsCSF secretionPharmacological mTORC1 inhibitionNeurodevelopmental assessmentRadiographic biomarkersFetal brainPTEN mutationsAqueductal stenosisPTEN deletionVentriculomegalyWhat N Is N-ough for MRI-Based Animal Neuroimaging?
Grandjean J, Lake E, Pagani M, Mandino F. What N Is N-ough for MRI-Based Animal Neuroimaging? ENeuro 2024, 11: eneuro.0531-23.2024. PMID: 38499355, PMCID: PMC10950324, DOI: 10.1523/eneuro.0531-23.2024.Peer-Reviewed Original ResearchMultimodal measures of spontaneous brain activity reveal both common and divergent patterns of cortical functional organization
Vafaii H, Mandino F, Desrosiers-Grégoire G, O’Connor D, Markicevic M, Shen X, Ge X, Herman P, Hyder F, Papademetris X, Chakravarty M, Crair M, Constable R, Lake E, Pessoa L. Multimodal measures of spontaneous brain activity reveal both common and divergent patterns of cortical functional organization. Nature Communications 2024, 15: 229. PMID: 38172111, PMCID: PMC10764905, DOI: 10.1038/s41467-023-44363-z.Peer-Reviewed Original Research
2023
SMC5 Plays Independent Roles in Congenital Heart Disease and Neurodevelopmental Disability
O'Brien M, Pryzhkova M, Lake E, Mandino F, Shen X, Karnik R, Atkins A, Xu M, Ji W, Konstantino M, Brueckner M, Ment L, Khokha M, Jordan P. SMC5 Plays Independent Roles in Congenital Heart Disease and Neurodevelopmental Disability. International Journal Of Molecular Sciences 2023, 25: 430. PMID: 38203602, PMCID: PMC10779392, DOI: 10.3390/ijms25010430.Peer-Reviewed Original ResearchWhere do we stand on fMRI in awake mice?
Mandino F, Vujic S, Grandjean J, Lake E. Where do we stand on fMRI in awake mice? Cerebral Cortex 2023, 34: bhad478. PMID: 38100331, PMCID: PMC10793583, DOI: 10.1093/cercor/bhad478.Peer-Reviewed Original ResearchAutism spectrum disorder-specific changes in white matter connectome edge density based on functionally defined nodes
Weber C, Lake E, Haider S, Mozayan A, Bobba P, Mukherjee P, Scheinost D, Constable R, Ment L, Payabvash S. Autism spectrum disorder-specific changes in white matter connectome edge density based on functionally defined nodes. Frontiers In Neuroscience 2023, 17: 1285396. PMID: 38075286, PMCID: PMC10702224, DOI: 10.3389/fnins.2023.1285396.Peer-Reviewed Original ResearchWhite matterPositive symptom correlationAutism spectrum disorderSymptom severity scoresBetween-group differencesAbnormal connectivity patternsCortical nodesVoxel-wise analysisDiffusion tensor imagingSeverity scoreWM fiber tractsSymptom correlationClinical dataConnectome disruptionConnectome changesEarly changesCortical regionsInfantsED reductionWM disruptionDisorder-specific changesTensor imagingFunctional imagingFiber tractsProbabilistic tractography
2022
A generalizable connectome-based marker of in-scan sustained attention in neurodiverse youth
Horien C, Greene A, Shen X, Fortes D, Brennan-Wydra E, Banarjee C, Foster R, Donthireddy V, Butler M, Powell K, Vernetti A, Mandino F, O'Connor D, Lake E, McPartland J, Volkmar F, Chun M, Chawarska K, Rosenberg M, Scheinost D, Constable R. A generalizable connectome-based marker of in-scan sustained attention in neurodiverse youth. Cerebral Cortex 2022, 33: 6320-6334. PMID: 36573438, PMCID: PMC10183743, DOI: 10.1093/cercor/bhac506.Peer-Reviewed Original ResearchConceptsAttention taskAttentional stateConnectome-based predictive modelingNeurodiverse conditionsSustained attention taskAttention network modelSample of youthNeurotypical participantsSustained attentionBrain correlatesNeurobiological correlatesAttention networkIndividual participantsSeparate samplesYouthParticipantsHead motionTaskCorrelatesAttentionAutismConfoundsNetwork modelGeneralizesHealthcare settingsAge-associated White Matter Microstructure and Connectome Abnormalities in Autism Spectrum Disorder
Weber C, Haider S, Mukherjee P, Lake E, Scheinost D, Bamford N, Ment L, Constable T, Payabvash S. Age-associated White Matter Microstructure and Connectome Abnormalities in Autism Spectrum Disorder. Proceedings Of The International Society For Magnetic Resonance In Medicine ... Scientific Meeting And Exhibition. 2022 DOI: 10.58530/2022/2100.Peer-Reviewed Original Research
2019
Trim71 Links an Ancient MicroRNA Pathway to Neural Stem Cell Development and Human Congenital Hydrocephalus
Phan D, Foster D, Jux B, Lake E, Constable T, Kolanus W, Slack F, Kahle K. Trim71 Links an Ancient MicroRNA Pathway to Neural Stem Cell Development and Human Congenital Hydrocephalus. Neurosurgery 2019, 66: 310-649. DOI: 10.1093/neuros/nyz310_649.Peer-Reviewed Original Research