Select Publications
Book Chapters
2014, 'From molecular pathways to ASD therapy: Insights from syndromic forms of autism', in Frontiers in Autism Research: New Horizons for Diagnosis and Treatment, pp. 23 - 46, http://dx.doi.org/10.1142/9789814602167_0002
,Journal articles
2024, 'De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delay', American Journal of Medical Genetics, Part A, 194, http://dx.doi.org/10.1002/ajmg.a.63559
,2023, 'Controlling an E3 ligase and its substrate: A function for MARCHF6 circRNA', Biochimica et Biophysica Acta - Molecular and Cell Biology of Lipids, 1868, http://dx.doi.org/10.1016/j.bbalip.2022.159237
,2023, '54. IDENTIFICATION OF CELL TYPES AND CELLULAR DYNAMICS GENETICALLY ASSOCIATED WITH BRAIN DISORDERS AND COGNITIVE TRAITS', European Neuropsychopharmacology, 75, pp. S85 - S85, http://dx.doi.org/10.1016/j.euroneuro.2023.08.160
,2022, 'Comprehensive evaluation of deconvolution methods for human brain gene expression', Nature Communications, 13, http://dx.doi.org/10.1038/s41467-022-28655-4
,2022, 'Alu-minating the Mechanisms Underlying Primate Cortex Evolution', Biological Psychiatry, 92, pp. 760 - 771, http://dx.doi.org/10.1016/j.biopsych.2022.04.021
,2022, 'Human prefrontal cortex gene regulatory dynamics from gestation to adulthood at single-cell resolution', Cell, 185, pp. 4428 - 4447.e28, http://dx.doi.org/10.1016/j.cell.2022.09.039
,2022, 'De Novo ZMYND8 variants result in an autosomal dominant neurodevelopmental disorder with cardiac malformations', Genetics in Medicine, 24, pp. 1952 - 1966, http://dx.doi.org/10.1016/j.gim.2022.06.001
,2021, 'Supervised application of internal validation measures to benchmark dimensionality reduction methods in scRNA-seq data', Briefings in Bioinformatics, 22, http://dx.doi.org/10.1093/bib/bbab304
,2021, 'NeuroCirc: an integrative resource of circular RNA expression in the human brain', Bioinformatics, 37, pp. 3664 - 3666, http://dx.doi.org/10.1093/bioinformatics/btab230
,2021, 'Evolutionary dynamics of circular rnas in primates', eLife, 10, http://dx.doi.org/10.7554/eLife.69148
,2021, 'Evolutionary dynamics of circular RNAs in primates', , http://dx.doi.org/10.1101/2021.05.01.442284
,2021, 'Transcriptome of iPSC-derived neuronal cells reveals a module of co-expressed genes consistently associated with autism spectrum disorder', Molecular Psychiatry, 26, pp. 1589 - 1605, http://dx.doi.org/10.1038/s41380-020-0669-9
,2021, 'Transcriptomic signature of early life stress in male rat prefrontal cortex', Neurobiology of Stress, 14, http://dx.doi.org/10.1016/j.ynstr.2021.100316
,2020, 'Circular RNAs: The Brain Transcriptome Comes Full Circle', Trends in Neurosciences, 43, pp. 752 - 766, http://dx.doi.org/10.1016/j.tins.2020.07.007
,2020, 'TDAview: An online visualization tool for topological data analysis', Bioinformatics, 36, pp. 4805 - 4809, http://dx.doi.org/10.1093/bioinformatics/btaa600
,2020, 'The Landscape of Circular RNA Expression in the Human Brain', Biological Psychiatry, 87, pp. 294 - 304, http://dx.doi.org/10.1016/j.biopsych.2019.07.029
,2019, 'Interplay of LIS1 and MeCP2: Interactions and Implications With the Neurodevelopmental Disorders Lissencephaly and Rett Syndrome', Frontiers in Cellular Neuroscience, 13, http://dx.doi.org/10.3389/fncel.2019.00370
,2017, 'Topoisomerase I inhibition leads to length-dependent gene expression changes in human primary astrocytes', Genomics Data, 11, pp. 113 - 115, http://dx.doi.org/10.1016/j.gdata.2016.12.005
,2017, 'Transcriptional response to mitochondrial protease IMMP2L knockdown in human primary astrocytes', Biochemical and Biophysical Research Communications, 482, pp. 1252 - 1258, http://dx.doi.org/10.1016/j.bbrc.2016.12.024
,2016, 'Searching for convergent pathways in autism spectrum disorders: insights from human brain transcriptome studies', Cellular and Molecular Life Sciences, 73, pp. 4517 - 4530, http://dx.doi.org/10.1007/s00018-016-2304-0
,2016, 'Chromosome conformation elucidates regulatory relationships in developing human brain', Nature, 538, pp. 523 - 527, http://dx.doi.org/10.1038/nature19847
,2016, 'Transcriptome analysis of human brain tissue identifies reduced expression of complement complex C1Q Genes in Rett syndrome', BMC Genomics, 17, pp. 1 - 11, http://dx.doi.org/10.1186/s12864-016-2746-7
,2015, 'Coexpression networks identify brain region–specific enhancer RNAs in the human brain', Nature Neuroscience, 18, pp. 1168 - 1174, http://dx.doi.org/10.1038/nn.4063
,2014, 'Alteration in basal and depolarization induced transcriptional network in iPSC derived neurons from Timothy syndrome', Genome Medicine, 6, http://dx.doi.org/10.1186/s13073-014-0075-5
,2014, 'Deep transcriptome profiling of mammalian stem cells supports a regulatory role for retrotransposons in pluripotency maintenance', Nature Genetics, 46, pp. 558 - 566, http://dx.doi.org/10.1038/ng.2965
,2013, 'Converging pathways in autism spectrum disorders: Interplay between synaptic dysfunction and immune responses', Frontiers in Human Neuroscience, 7, pp. 738, http://dx.doi.org/10.3389/fnhum.2013.00738
,2013, 'Autism susceptibility genes and the transcriptional landscape of the human brain', , 113, pp. 303 - 318, http://dx.doi.org/10.1016/B978-0-12-418700-9.00010-1
,2013, 'Current progress and challenges in the search for autism biomarkers', Disease Markers, 35, pp. 55 - 65, http://dx.doi.org/10.1155/2013/476276
,2012, 'Role of DNA Polymerases in Repeat-Mediated Genome Instability', Cell Reports, 2, pp. 1088 - 1095, http://dx.doi.org/10.1016/j.celrep.2012.10.006
,2012, 'Genome-wide transcriptome profiling reveals the functional impact of rare de novo and recurrent CNVs in autism spectrum disorders', American Journal of Human Genetics, 91, pp. 38 - 55, http://dx.doi.org/10.1016/j.ajhg.2012.05.011
,2012, 'Autism: From genetics to biomarkers', Disease Markers, 33, pp. 223 - 224, http://dx.doi.org/10.1155/2012/781390
,2012, 'CCDC22: A novel candidate gene for syndromic X-linked intellectual disability', Molecular Psychiatry, 17, pp. 4 - 7, http://dx.doi.org/10.1038/mp.2011.95
,2012, 'Gene expression studies in autism: Moving from the genome to the transcriptome and beyond', Neurobiology of Disease, 45, pp. 69 - 75, http://dx.doi.org/10.1016/j.nbd.2011.07.017
,2011, 'Using iPSC-derived neurons to uncover cellular phenotypes associated with Timothy syndrome', Nature Medicine, 17, pp. 1657 - 1662, http://dx.doi.org/10.1038/nm.2576
,2011, 'Transcriptomic analysis of autistic brain reveals convergent molecular pathology', Nature, 474, pp. 380 - 386, http://dx.doi.org/10.1038/nature10110
,2009, 'Large-Scale Expansions of Friedreich's Ataxia GAA Repeats in Yeast', Molecular Cell, 35, pp. 82 - 92, http://dx.doi.org/10.1016/j.molcel.2009.06.017
,2009, 'Checkpoint responses to unusual structures formed by DNA repeats', Molecular Carcinogenesis, 48, pp. 309 - 318, http://dx.doi.org/10.1002/mc.20512
,2009, 'Replisome stalling and stabilization at CGG repeats, which are responsible for chromosomal fragility', Nature Structural and Molecular Biology, 16, pp. 226 - 228, http://dx.doi.org/10.1038/nsmb.1527
,2008, 'Replication stalling at unstable inverted repeats: Interplay between DNA hairpins and fork stabilizing proteins', Proceedings of the National Academy of Sciences of the United States of America, 105, pp. 9936 - 9941, http://dx.doi.org/10.1073/pnas.0804510105
,2007, '67 REPLICATION OF DNA PALINDROMES AND CHROMOSOMAL INSTABILITY.', Journal of Investigative Medicine, 55, pp. S359.4 - S359, http://dx.doi.org/10.1136/jim-55-02-67
,2007, 'Replication of Dna Palindromes and Chromosomal Instability', Journal of Investigative Medicine, 55, pp. 359 - 359, http://dx.doi.org/10.1177/108155890705500267
,Conference Papers
2010, 'Identification of shared molecular pathways involved in autism by brain transcriptome profiling', in INTERNATIONAL JOURNAL OF DEVELOPMENTAL NEUROSCIENCE, PERGAMON-ELSEVIER SCIENCE LTD, PORTUGAL, Estoril, pp. 706 - 706, presented at 18th Biennial Meeting of the International-Society-for-Developmental-Neuroscience, PORTUGAL, Estoril, 06 June 2010 - 09 June 2010, http://dx.doi.org/10.1016/j.ijdevneu.2010.07.187
,2007, 'Replication of DNA palindromes and chromosomal instability.', in JOURNAL OF INVESTIGATIVE MEDICINE, B C DECKER INC, IL, Chicago, pp. S359 - S359, presented at Combined Annual Meeting of the Central-Society-for-Clinical-Research/Miswestern Section of the American-Federation-for-Medical-Research, IL, Chicago, 12 April 2007 - 13 April 2007, http://dx.doi.org/10.1097/00042871-200703010-00074
,Working Papers
2019, Persistent homology analysis of gene expression data in autism, http://dx.doi.org
,Preprints
2020, Comprehensive evaluation of deconvolution methods for human brain gene expression, http://dx.doi.org/10.1101/2020.06.01.126839
,2020, Supervised Application of Internal Validation Measures to Benchmark Dimensionality Reduction Methods in scRNA-seq Data, http://dx.doi.org/10.1101/2020.10.29.361451
,2018, The Landscape Of Circular RNA Expression In The Human Brain, http://dx.doi.org/10.1101/500991
,Other
2024, From synapse to sensation: the role of circTulp4, http://dx.doi.org/10.1016/j.tins.2024.08.005
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