2009
COL4A1 Mutation in Preterm Intraventricular Hemorrhage
Bilguvar K, DiLuna ML, Bizzarro MJ, Bayri Y, Schneider KC, Lifton RP, Gunel M, Ment LR. COL4A1 Mutation in Preterm Intraventricular Hemorrhage. The Journal Of Pediatrics 2009, 155: 743-745. PMID: 19840616, PMCID: PMC2884156, DOI: 10.1016/j.jpeds.2009.04.014.Peer-Reviewed Original ResearchMeSH KeywordsCerebral HemorrhageCollagen Type IVDiseases in TwinsFemaleFollow-Up StudiesGene Expression Regulation, DevelopmentalGenetic Predisposition to DiseaseGestational AgeHumansInfant, NewbornInfant, PrematureInfant, Premature, DiseasesMaleMutationPregnancyTwins, DizygoticUltrasonography, Doppler, TranscranialConceptsIntraventricular hemorrhageCerebral small vessel diseasePreterm Intraventricular HemorrhageSmall vessel diseaseSpectrum of diseaseCommon complicationPreterm infantsPreterm twinsVessel diseaseCOL4A1 mutationsHemorrhageRare variantsDiseaseType IV procollagenCOL4A1MutationsComplicationsInfantsFetuses
2008
Molecular Cytogenetic Analysis and Resequencing of Contactin Associated Protein-Like 2 in Autism Spectrum Disorders
Bakkaloglu B, O'Roak BJ, Louvi A, Gupta AR, Abelson JF, Morgan TM, Chawarska K, Klin A, Ercan-Sencicek AG, Stillman AA, Tanriover G, Abrahams BS, Duvall JA, Robbins EM, Geschwind DH, Biederer T, Gunel M, Lifton RP, State MW. Molecular Cytogenetic Analysis and Resequencing of Contactin Associated Protein-Like 2 in Autism Spectrum Disorders. American Journal Of Human Genetics 2008, 82: 165-173. PMID: 18179895, PMCID: PMC2253974, DOI: 10.1016/j.ajhg.2007.09.017.Peer-Reviewed Original ResearchConceptsAutism susceptibility candidate 2Contactin 4Plasma membrane fractionSynaptic plasma membrane fractionMolecular cytogenetic analysisComplex genetic etiologyRare variantsBioinformatics approachConserved positionNonsynonymous changesMembrane fractionRare homozygous mutationControl chromosomesBiochemical analysisNeurodevelopmental syndromeGenetic etiologyPathophysiology of ASDCandidate 2Recent findingsHomozygous mutationUnrelated familiesCytogenetic analysisMutationsVariantsResequencing