2018
Marker chromosome genomic structure and temporal origin implicate a chromoanasynthesis event in a family with pleiotropic psychiatric phenotypes
Grochowski CM, Gu S, Yuan B, Julia T, Brennand KJ, Sebat J, Malhotra D, McCarthy S, Rudolph U, Lindstrand A, Chong Z, Levy DL, Lupski JR, Carvalho CMB. Marker chromosome genomic structure and temporal origin implicate a chromoanasynthesis event in a family with pleiotropic psychiatric phenotypes. Human Mutation 2018, 39: 939-946. PMID: 29696747, PMCID: PMC5995661, DOI: 10.1002/humu.23537.Peer-Reviewed Original ResearchConceptsWhole-genome sequencingSmall supernumerary marker chromosomeChromosomal fragmentsMarker chromosomesGenomic structureComparative genomic hybridization analysisSupernumerary marker chromosomeGenomic hybridization analysisTemporal originHybridization analysisArray comparative genomic hybridization analysisChromosome 9Short armRepair mechanismsMarker genotypesChromosomesPrecise architectureProband's maternal grandmotherStructural variationsPsychiatric phenotypesFurther complexityFragmentsDuplicationSequencingPhenotype
2017
Divergent Levels of Marker Chromosomes in an hiPSC-Based Model of Psychosis
Julia T, Carvalho C, Yuan B, Gu S, Altheimer A, McCarthy S, Malhotra D, Sebat J, Siegel A, Rudolph U, Lupski J, Levy D, Brennand K. Divergent Levels of Marker Chromosomes in an hiPSC-Based Model of Psychosis. Stem Cell Reports 2017, 8: 519-528. PMID: 28216146, PMCID: PMC5355568, DOI: 10.1016/j.stemcr.2017.01.010.Peer-Reviewed Original Research