Transcriptomic analysis of autistic brain reveals convergent molecular pathology

Irina Voineagu, Xinchen Wang, Patrick G. Johnston, +7

Nature

Molecular NeuroscienceSyndromic AutismAutismSocial SciencesNeuroscience +2

Chromosome conformation elucidates regulatory relationships in developing human brain

Hyejung Won, Luis de la Torre-Ubieta, Jason L. Stein, +12

Nature

ChromatinDevelopmental BiologyBrain StructureBrain DevelopmentDevelopmental Cognitive Neuroscience +6

Using iPSC-derived neurons to uncover cellular phenotypes associated with Timothy syndrome

Sergiu P. Pașca, Thomas Portmann, Irina Voineagu, +11

Nature Medicine

Molecular NeuroscienceDevelopmental BiologyCellular PhenotypesGenetic DisorderCellular Neuroscience +9

Deep transcriptome profiling of mammalian stem cells supports a regulatory role for retrotransposons in pluripotency maintenance

Alexandre Fort, Kosuke Hashimoto, Daisuke Yamada, +18

Nature Genetics

Pluripotency MaintenanceCell LineageFunctional GenomicsInduced Pluripotent Stem CellMedicine +9

Replication stalling at unstable inverted repeats: Interplay between DNA hairpins and fork stabilizing proteins

Irina Voineagu, Vidhya Narayanan, Kirill S. Lobachev, +1

Proceedings of the National Academy of Sciences

ChromatinGenome InstabilityDna SequencingProtein FoldingGenetics +12

Human prefrontal cortex gene regulatory dynamics from gestation to adulthood at single-cell resolution

Charles A. Herring, Rebecca K. Simmons, Saskia Freytag, +18

Cell

Genome-wide Transcriptome Profiling Reveals the Functional Impact of Rare De Novo and Recurrent CNVs in Autism Spectrum Disorders

Rui Luo, Stephan Sanders, Yuan Tian, +11

The American Journal of Human Genetics

Functional GenomicsAutism Spectrum DisordersSyndromic AutismGeneticsAutism +7

Large-Scale Expansions of Friedreich's Ataxia GAA Repeats in Yeast

A.A. Shishkin, Irina Voineagu, Robert Matera, +6

Molecular Cell

Ataxia Gaa RepeatsProtein FoldingProtein EvolutionMolecular BiologyYeast +3

Comprehensive evaluation of deconvolution methods for human brain gene expression

Gavin J Sutton, Daniel Poppe, Rebecca K. Simmons, +5

Nature Communications

Replisome stalling and stabilization at CGG repeats, which are responsible for chromosomal fragility

Irina Voineagu, Christine Surka, A.A. Shishkin, +2

Nature Structural & Molecular Biology

ChromatinGenome InstabilityReplisome StallingGeneticsGenomic Mechanism +9