2018
De novo pathogenic variants in neuronal differentiation factor 2 (NEUROD2) cause a form of early infantile epileptic encephalopathy
Sega AG, Mis EK, Lindstrom K, Mercimek-Andrews S, Ji W, Cho MT, Juusola J, Konstantino M, Jeffries L, Khokha MK, Lakhani SA. De novo pathogenic variants in neuronal differentiation factor 2 (NEUROD2) cause a form of early infantile epileptic encephalopathy. Journal Of Medical Genetics 2018, 56: 113. PMID: 30323019, DOI: 10.1136/jmedgenet-2018-105322.Peer-Reviewed Original ResearchConceptsEarly infantile epileptic encephalopathyInfantile epileptic encephalopathyEpileptic encephalopathyPatient variantsDe novo pathogenic variantsNovel de novo variantNovo pathogenic variantsEarly-onset refractory seizuresDifferentiation factor 2Whole-exome sequencingNeuronal differentiation factorRefractory seizuresSignificant developmental delaySpontaneous seizuresUnderlying etiologyEctopic neuronsDe novo variantsPatient's conditionEncephalopathyPathogenic variantsSevere disordersDevelopmental delayUnrelated childrenExome sequencingGene mutations
2012
High-throughput fluorescence-based isolation of live C. elegans larvae
Fernandez A, Bargmann B, Mis E, Edgley M, Birnbaum K, Piano F. High-throughput fluorescence-based isolation of live C. elegans larvae. Nature Protocols 2012, 7: 1502-1510. PMID: 22814389, PMCID: PMC5274720, DOI: 10.1038/nprot.2012.084.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsAnimals, Genetically ModifiedCaenorhabditis elegansFlow CytometryGreen Fluorescent ProteinsHigh-Throughput Screening AssaysHomozygoteLarvaConceptsGenetic interactionsChemical genetic screenNematode Caenorhabditis elegansFluorescence-activated cell sortingSelection of animalsTermination mutantsCaenorhabditis elegansSorting animalsGenetic screeningChemical screeningGFP expressionCell sortingLarval stageLive animalsHigh-speed sortingMutantsAnimalsFACSIsolatesGenotypesNematodesHomozygotes