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Author Details

Alexander E Urban
2003
66
40
PMIDPaper TitleJournal TitlePublished Year
37379808Evaluation of C4 Gene Copy Number in Pediatric Acute Neuropsychiatric Syndrome.Dev Neurosci2023
37584462Mutations in human DNA methyltransferase DNMT1 induce specific genome-wide epigenomic and transcriptomic changes in neurodevelopment.Hum Mol Genet2023
35201886Hyperexcitable arousal circuits drive sleep instability during aging.Science2022
34552056Increased activation product of complement 4 protein in plasma of individuals with schizophrenia.Transl Psychiatry2021
34035170Cross-platform validation of neurotransmitter release impairments in schizophrenia patient-derived <i>NRXN1</i>-mutant neurons.Proc Natl Acad Sci U S A2021
33982062PRG2 and AQPEP are misexpressed in fetal membranes in placenta previa and percretaâ¿ .Biology of Reproduction2021
32919612Network Effects of the 15q13.3 Microdeletion on the Transcriptome and Epigenome in Human-Induced Neurons.Biol Psychiatry2021
33122304Complex mosaic structural variations in human fetal brains.Genome Res2020
32071206Integrated functional genomic analyses of Klinefelter and Turner syndromes reveal global network effects of altered X chromosome dosage.Proc Natl Acad Sci U S A2020
31729472Structural variation in the sequencing era.Nat Rev Genet2020
32404971CNN-Peaks: ChIP-Seq peak detection pipeline using convolutional neural networks that imitate human visual inspection.Scientific Reports2020
31292557Neural signatures of sleep in zebrafish.Nature2019
31530576Metabolism of cholesterol and progesterone is differentially regulated in primary trophoblastic subtypes and might be disturbed in recurrent miscarriages.Journal of Lipid Research2019
30975860The NASA Twins Study: A multidimensional analysis of a year-long human spaceflight.Science2019
30864654Haplotype-resolved and integrated genome analysis of the cancer cell line HepG2.Nucleic Acids Res2019
30737237Comprehensive, integrated, and phased whole-genome analysis of the primary ENCODE cell line K562.Genome Res2019
30902979Allele-specific binding of RNA-binding proteins reveals functional genetic variants in the RNA.Nat Commun2019
29217587Different mutational rates and mechanisms in human cells at pregastrulation and neurogenesis.Science2018
30559385Local and global chromatin interactions are altered by large genomic deletions associated with human brain development.Nature Communications2018
30312291Genome amplification and cellular senescence are hallmarks of human placenta development.PLoS Genetics2018
301552721q21.1 microduplication: large verbal-nonverbal performance discrepancy and ddPCR assays of HYDIN/HYDIN2 copy number.NPJ Genom Med2018
30061371Whole-genome sequencing analysis of CNV using low-coverage and paired-end strategies is efficient and outperforms array-based CNV analysis.Journal of Medical Genetics2018
30561434Extensive and deep sequencing of the Venter/HuRef genome for developing and benchmarking genome analysis tools.Sci Data2018
29717444Detection and Quantification of Mosaic Genomic DNA Variation in Primary Somatic Tissues Using ddPCR: Analysis of Mosaic Transposable-Element Insertions, Copy-Number Variants, and Single-Nucleotide Variants.Methods in Molecular Biology2018
28235832One thousand somatic SNVs per skin fibroblast cell set baseline of mosaic mutational load with patterns that suggest proliferative origin.Genome Res2017
28346892Characterizing regression in Phelan McDermid Syndrome (22q13 deletion syndrome).J Psychiatr Res2017
28450582Intersection of diverse neuronal genomes and neuropsychiatric disease: The Brain Somatic Mosaicism Network.Science2017
28438122Comprehensive performance comparison of high-resolution array platforms for genome-wide Copy Number Variation (CNV) analysis in humans.BMC Genomics2017
29220033Challenges and recommendations for epigenomics in precision health.Nat Biotechnol2017
26949739Identification of Human Neuronal Protein Complexes Reveals Biochemical Activities and Convergent Mechanisms of Action in Autism Spectrum Disorders.Cell Syst2015
25627897Using iPSCs and genomics to catch CNVs in the act.Nature Genetics2015
2589881446,XY disorders of sex development and congenital diaphragmatic hernia: a case with dysmorphic facies, truncus arteriosus, bifid thymus, gut malrotation, rhizomelia, and adactyly.Am J Med Genet A2015
24092820Characterizing the genetic basis of transcriptome diversity through RNA-sequencing of 922 individuals.Genome Res2014
25549968Integrated systems analysis reveals a molecular network underlying autism spectrum disorders.Mol Syst Biol2014
24296977Type I interferon signaling genes in recurrent major depression: increased expression detected by whole-blood RNA sequencing.Mol Psychiatry2014
23311762Child development and structural variation in the human genome.Child Dev2013
23874524Normalizing RNA-sequencing data by modeling hidden covariates with prior knowledge.PLoS One2013
23160490Somatic copy number mosaicism in human skin revealed by induced pluripotent stem cells.Nature2012
22909245A role of genomic copy number variation in the complex behavioral phenotype of alcohol dependence: a commentary.Alcoholism: Clinical and Experimental Research2012
22328086Mutations in DNMT1 cause autosomal dominant cerebellar ataxia, deafness and narcolepsy.Hum Mol Genet2012
23157288Copy Number Variation detection from 1000 Genomes Project exon capture sequencing data.BMC Bioinformatics2012
23043118Extensive genetic variation in somatic human tissues.Proc Natl Acad Sci U S A2012
21787423Identification of genomic indels and structural variations using split reads.BMC Genomics2011
21204834Annual Research Review: The promise of stem cell research for neuropsychiatric disorders.J Child Psychol Psychiatry2011
21293372Mapping copy number variation by population-scale genome sequencing.Nature2011
21324876CNVnator: an approach to discover, genotype, and characterize typical and atypical CNVs from family and population genome sequencing.Genome Res2011
21876680A comprehensive map of mobile element insertion polymorphisms in humans.PLoS Genet2011
22140474Genome-wide mapping of copy number variation in humans: comparative analysis of high resolution array platforms.PLoS One2011
20299548Variation in transcription factor binding among humans.Science2010
20814258Behavior, brain, and genome in genomic disorders: finding the correspondences.Journal of Developmental and Behavioral Pediatrics2010
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Johns Hopkins University School of Medicine
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Broad Institute of MIT and Harvard
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University of Minnesota Genomics Center (UMNGC)
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