Sofia Fertuzinhos, PhD
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Research & Education Librarian for Bioinformatics
Education & Training
- PhD
- University of Coimbra (2010)
- BS
- University of Minho, Biology (2003)
Research
Research at a Glance
Yale Co-Authors
Frequent collaborators of Sofia Fertuzinhos's published research.
Publications Timeline
A big-picture view of Sofia Fertuzinhos's research output by year.
Michael Crair, PhD
Abha Gupta, MD, PhD
Adife Gulhan Ercan-Sencicek, MSc, MS, PhD
Anita Huttner, MD
Ellen J. Hoffman, MD, PhD
Michael Schwartz, PhD
6Publications
3,002Citations
Publications
2014
Laminar and Temporal Expression Dynamics of Coding and Noncoding RNAs in the Mouse Neocortex
Fertuzinhos S, Li M, Kawasawa YI, Ivic V, Franjic D, Singh D, Crair M, Šestan N. Laminar and Temporal Expression Dynamics of Coding and Noncoding RNAs in the Mouse Neocortex. Cell Reports 2014, 6: 938-950. PMID: 24561256, PMCID: PMC3999901, DOI: 10.1016/j.celrep.2014.01.036.Peer-Reviewed Original ResearchCitationsAltmetricMeSH Keywords and ConceptsConceptsTemporal expression dynamicsExpression dynamicsDistinct biological processesGene coexpression networksSpecific spatiotemporal expressionSmall RNAsNoncoding RNAsTranscriptional differencesTranscriptional eventsSplicing patternsCoexpression networkMRNA interactionsPotential miRNATranscriptional overlapDeep sequencingBiological processesSpatiotemporal expressionMouse neocortexCell typesTranscriptsStudies of neurodevelopmentIntegrated viewTemporal dynamicsCharacteristic setTranscriptome
2013
Coexpression Networks Implicate Human Midfetal Deep Cortical Projection Neurons in the Pathogenesis of Autism
Willsey AJ, Sanders SJ, Li M, Dong S, Tebbenkamp AT, Muhle RA, Reilly SK, Lin L, Fertuzinhos S, Miller JA, Murtha MT, Bichsel C, Niu W, Cotney J, Ercan-Sencicek AG, Gockley J, Gupta AR, Han W, He X, Hoffman EJ, Klei L, Lei J, Liu W, Liu L, Lu C, Xu X, Zhu Y, Mane SM, Lein ES, Wei L, Noonan JP, Roeder K, Devlin B, Sestan N, State MW. Coexpression Networks Implicate Human Midfetal Deep Cortical Projection Neurons in the Pathogenesis of Autism. Cell 2013, 155: 997-1007. PMID: 24267886, PMCID: PMC3995413, DOI: 10.1016/j.cell.2013.10.020.Peer-Reviewed Original ResearchCitationsAltmetricMeSH Keywords and ConceptsConceptsCoexpression networkASD genesComplex developmental syndromeGenome-wide sequencingCortical projection neuronsHigh-confidence ASD genesExpression data setsPleiotropic genesSpecific genesDevelopmental processesDevelopmental syndromesSequencing studiesGenesProjection neuronsCell typesBrain regionsType mutationsCommon phenotypeASD pathophysiologyPathogenesis of autismAutism spectrum disorderMutationsHuman brain regionsUnknown etiologyRecent studiesLaminar and Columnar Development of Barrel Cortex Relies on Thalamocortical Neurotransmission
Li H, Fertuzinhos S, Mohns E, Hnasko TS, Verhage M, Edwards R, Sestan N, Crair MC. Laminar and Columnar Development of Barrel Cortex Relies on Thalamocortical Neurotransmission. Neuron 2013, 79: 970-986. PMID: 24012009, PMCID: PMC3768017, DOI: 10.1016/j.neuron.2013.06.043.Peer-Reviewed Original ResearchCitationsAltmetricMeSH Keywords and ConceptsConceptsThalamocortical neurotransmissionCortical developmentNeuronal differentiationGlutamatergic synaptic transmissionSuperficial cortical laminaeEarly cortical developmentActivity-dependent factorsThalamocortical neuronsSomatosensory cortexCortical cytoarchitectureCortical laminationSynaptic transmissionNeuronal activityCortical laminaeCytoarchitectonic criteriaExtrinsic activityNeurotransmissionCortical columnsMolecular cuesNeuronsMorphologic developmentLittle evidenceColumnar developmentGene expressionExtrinsic factors
2012
Species-Dependent Posttranscriptional Regulation of NOS1 by FMRP in the Developing Cerebral Cortex
Kwan KY, Lam MM, Johnson MB, Dube U, Shim S, Rašin MR, Sousa AM, Fertuzinhos S, Chen JG, Arellano JI, Chan DW, Pletikos M, Vasung L, Rowitch DH, Huang EJ, Schwartz ML, Willemsen R, Oostra BA, Rakic P, Heffer M, Kostović I, Judaš M, Šestan N. Species-Dependent Posttranscriptional Regulation of NOS1 by FMRP in the Developing Cerebral Cortex. Cell 2012, 149: 899-911. PMID: 22579290, PMCID: PMC3351852, DOI: 10.1016/j.cell.2012.02.060.Peer-Reviewed Original ResearchCitationsAltmetricMeSH Keywords and ConceptsConceptsNeuronal nitric oxide synthase 1Pyramidal neuronsNOS1 mRNANitric oxide synthase 1Mouse pyramidal neuronsOrofacial motor cortexFMRP-deficient miceFragile X syndromeCerebral cortexMotor cortexCognitive dysfunctionEarly synaptogenesisLoss of functionMonogenic causesNeocortical circuitsLayer 5Human neocortexProtein levelsNeuronsIntellectual disabilityBroca's areaNOS1 proteinCortexSynthase 1FXS cases
2011
Spatio-temporal transcriptome of the human brain
Kang HJ, Kawasawa YI, Cheng F, Zhu Y, Xu X, Li M, Sousa AM, Pletikos M, Meyer KA, Sedmak G, Guennel T, Shin Y, Johnson MB, Krsnik Ž, Mayer S, Fertuzinhos S, Umlauf S, Lisgo SN, Vortmeyer A, Weinberger DR, Mane S, Hyde TM, Huttner A, Reimers M, Kleinman JE, Šestan N. Spatio-temporal transcriptome of the human brain. Nature 2011, 478: 483-489. PMID: 22031440, PMCID: PMC3566780, DOI: 10.1038/nature10523.Peer-Reviewed Original ResearchCitationsAltmetricMeSH Keywords
2009
Selective Depletion of Molecularly Defined Cortical Interneurons in Human Holoprosencephaly with Severe Striatal Hypoplasia
Fertuzinhos S, Krsnik Ž, Kawasawa YI, Rašin M, Kwan KY, Chen JG, Judaš M, Hayashi M, Šestan N. Selective Depletion of Molecularly Defined Cortical Interneurons in Human Holoprosencephaly with Severe Striatal Hypoplasia. Cerebral Cortex 2009, 19: 2196-2207. PMID: 19234067, PMCID: PMC2722430, DOI: 10.1093/cercor/bhp009.Peer-Reviewed Original ResearchCitationsMeSH Keywords and ConceptsConceptsCortical interneuronsProjection neuronsInterneuron subtypesDorsal forebrainNitric oxide synthase 1Ventral forebrainCortical interneuron diversityGlutamatergic projection neuronsHuman holoprosencephalyInhibitory GABAergic interneuronsCortex of controlCortical interneuron subtypesEarly fetal periodClinical manifestationsInfant casesNeuropeptide YGABAergic interneuronsNeuronal pathogenesisCalretinin expressionInterneuronsFetal periodDifferent subtypesSelective depletionInterneuron diversityForebrain