2021
A neurogenetic analysis of female autism
Jack A, Sullivan CAW, Aylward E, Bookheimer SY, Dapretto M, Gaab N, Van Horn JD, Eilbott J, Jacokes Z, Torgerson CM, Bernier RA, Geschwind DH, McPartland JC, Nelson CA, Webb SJ, Pelphrey KA, Gupta AR, Bernier R, McPartland J, Ventola P, Kresse A, Neuhaus E, Corrigan S, Wolf J, McDonald N, Ankenman K, Webb S, Jeste S, Nelson C, Naples A, Libsack E, Pelphrey K, Aylward E, Bookheimer S, Gaab N, Dapretto M, Van Horn J, Jack A, Guilford D, Torgerson C, Welker O, Geschwind D, Gupta A, Sullivan C, Lowe J, Jacokes Z, MacDonnell E, Tsapelas H, Depedro-Mercier D, Keifer C, Ventola P. A neurogenetic analysis of female autism. Brain 2021, 144: 1911-1926. PMID: 33860292, PMCID: PMC8320285, DOI: 10.1093/brain/awab064.Peer-Reviewed Original Research
2018
PAC1R Genotype to Phenotype Correlations in Autism Spectrum Disorder
Goodrich M, Armour AC, Panchapakesan K, You X, Devaney J, Knoblach S, Sullivan CAW, Herrero MJ, Gupta AR, Vaidya CJ, Kenworthy L, Corbin JG. PAC1R Genotype to Phenotype Correlations in Autism Spectrum Disorder. Autism Research 2018, 12: 200-211. PMID: 30556326, PMCID: PMC6665682, DOI: 10.1002/aur.2051.Peer-Reviewed Original ResearchConceptsResting-state functional connectivity differencesAutism spectrum disorderHuman amygdalaRight middle temporal gyrusFunctional connectivity differencesHigher functional connectivityEarly postnatal stagesNumerous neurodevelopmental disordersMiddle temporal gyrusGC genotypeBrain trajectoriesRisk genotypesSocial deficitsConnectivity differencesAmygdalaTemporal gyrusFunctional connectivityBrain connectivityPostnatal stagesTime pointsNeurodevelopmental disordersMiceCritical time pointsMultimodal approachPossible alterations
2014
Homozygous loss of DIAPH1 is a novel cause of microcephaly in humans
Ercan-Sencicek AG, Jambi S, Franjic D, Nishimura S, Li M, El-Fishawy P, Morgan TM, Sanders SJ, Bilguvar K, Suri M, Johnson MH, Gupta AR, Yuksel Z, Mane S, Grigorenko E, Picciotto M, Alberts AS, Gunel M, Šestan N, State MW. Homozygous loss of DIAPH1 is a novel cause of microcephaly in humans. European Journal Of Human Genetics 2014, 23: 165-172. PMID: 24781755, PMCID: PMC4297910, DOI: 10.1038/ejhg.2014.82.Peer-Reviewed Original ResearchConceptsCell divisionFamily-based linkage analysisLinkage analysisRho effector proteinsLinear actin filamentsMaintenance of polarityMitotic cell divisionHigh-throughput sequencingRare genetic variantsHuman neuronal precursor cellsParametric multipoint linkage analysisActivation of GTPNeuronal precursor cellsFormin familyMammalian DiaphanousEffector proteinsMultipoint linkage analysisSpindle formationActin filamentsNonsense alterationWhole-exome sequencingHuman pathologiesNeuroepithelial cellsGenetic variantsHomozygous loss
2012
Mutations in BCKD-kinase Lead to a Potentially Treatable Form of Autism with Epilepsy
Novarino G, El-Fishawy P, Kayserili H, Meguid NA, Scott EM, Schroth J, Silhavy JL, Kara M, Khalil RO, Ben-Omran T, Ercan-Sencicek AG, Hashish AF, Sanders SJ, Gupta AR, Hashem HS, Matern D, Gabriel S, Sweetman L, Rahimi Y, Harris RA, State MW, Gleeson JG. Mutations in BCKD-kinase Lead to a Potentially Treatable Form of Autism with Epilepsy. Science 2012, 338: 394-397. PMID: 22956686, PMCID: PMC3704165, DOI: 10.1126/science.1224631.Peer-Reviewed Original ResearchMeSH Keywords3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide)AdolescentAmino Acids, Branched-ChainAnimalsArginineAutistic DisorderBase SequenceBrainChildChild, PreschoolDietEpilepsyFemaleHomozygoteHumansIntellectual DisabilityMaleMiceMice, KnockoutMolecular Sequence DataMutationPedigreePhosphorylationProtein FoldingProtein Structure, TertiaryRNA, MessengerYoung AdultConceptsBranched-chain ketoacid dehydrogenaseBrain amino acid profilesPlasma branched-chain amino acidsIntellectual disabilityBranched-chain amino acidsTreatable syndromeNeurobehavioral deficitsTreatable formSomatic treatmentsDietary supplementationKnockout miceEpilepsyPhosphorylation-mediated inactivationConsanguineous familyReciprocal social interactionSyndromeKetoacid dehydrogenaseAmino acid profileMessenger RNAAutism spectrum disorderE1α phosphorylationDisabilitySpectrum disorderHeterogeneous constellationAcid profile
2011
Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism
Sanders SJ, Ercan-Sencicek AG, Hus V, Luo R, Murtha MT, Moreno-De-Luca D, Chu SH, Moreau MP, Gupta AR, Thomson SA, Mason CE, Bilguvar K, Celestino-Soper PB, Choi M, Crawford EL, Davis L, Wright NR, Dhodapkar RM, DiCola M, DiLullo NM, Fernandez TV, Fielding-Singh V, Fishman DO, Frahm S, Garagaloyan R, Goh GS, Kammela S, Klei L, Lowe JK, Lund SC, McGrew AD, Meyer KA, Moffat WJ, Murdoch JD, O'Roak BJ, Ober GT, Pottenger RS, Raubeson MJ, Song Y, Wang Q, Yaspan BL, Yu TW, Yurkiewicz IR, Beaudet AL, Cantor RM, Curland M, Grice DE, Günel M, Lifton RP, Mane SM, Martin DM, Shaw CA, Sheldon M, Tischfield JA, Walsh CA, Morrow EM, Ledbetter DH, Fombonne E, Lord C, Martin CL, Brooks AI, Sutcliffe JS, Cook EH, Geschwind D, Roeder K, Devlin B, State MW. Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism. Neuron 2011, 70: 863-885. PMID: 21658581, PMCID: PMC3939065, DOI: 10.1016/j.neuron.2011.05.002.Peer-Reviewed Original ResearchAdolescentCadherinsCalcium-Binding ProteinsCell Adhesion Molecules, NeuronalChildChild Development Disorders, PervasiveChild, PreschoolChromosomes, Human, Pair 16Chromosomes, Human, Pair 7Chromosomes, Human, XDNA Copy Number VariationsFamily HealthFemaleGene DuplicationGene Expression ProfilingGenome-Wide Association StudyGenotypeHumansMaleNerve Tissue ProteinsNeural Cell Adhesion MoleculesOligonucleotide Array Sequence AnalysisPhenotypeProteinsSiblingsUbiquitin ThiolesteraseUbiquitin-Specific Peptidase 7Williams Syndrome