This is a list of selected papers the lab has published over the years.
Click here to be redirected to a list of all Talkowski Laboratory publications on PubMed
Current bioRxiv preprints
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Dystonia-specific mutations in THAP1 alter transcription of genes associated with neurodevelopment and myelin, posted June 22, 2021
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Developmental regulation of neuronal gene expression by Elongator complex protein 1 dosage, posted April 16, 2021
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High coverage whole genome sequencing of the expanded 1000 Genomes Project cohort including 602 trios, posted February 7, 2021
2021
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A deep learning approach to identify gene targets of a therapeutic for human splicing disorders – Nature Communications, June 2021
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Expectations and blind spots for structural variation detection from long-read assemblies and short-read genome sequencing technologies – American Journal of Human Genetics, May 2021
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De novo structural mutation rates and gamete-of-origin biases revealed through genome sequencing of 2,396 families – American Journal of Human Genetics, April 2021
2020
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New gene discoveries highlight functional convergence in autism and related neurodevelopmental disorders – Current Opinion in Genetics & Development, December 2020
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Functional Annotation of Rare Structural Variation in the Human Brain – Nature Communications, June 2020
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Transcriptional consequences of MBD5 disruption in mouse brain and CRISPR-derived neurons – Molecular Autism, June 2020
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A structural variation reference for medical and population genetics – Nature, May 2020
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The mutational constraint spectrum quantified from variation in 141,456 humans – Nature, May 2020
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Large-scale exome sequencing study implicates both developmental and functional changes in the neurobiology of autism – Cell, February 2020
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The effects of common structural variants on 3D chromatin structure – BMC Genomics, January 2020
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Biallelic mutation of FBXL7 suggests a novel form of Hennekam syndrome – American Journal of Medical Genetics, January 2020
2019
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Next generation sequencing of prenatal structural chromosomal rearrangements using large-insert libraries – Methods in Molecular Biology, 2019
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Introduction of genomics into prenatal diagnostics – Lancet, February 2019
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Multi-platform discovery of haplotype-resolved structural variation in human genomes – Nature Communications, April 2019
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Kctd13-deficient mice display short-term memory impairment and sex-dependent genetic interactions – Human Molecular Genetics, May 2019
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Role of the chromosome architectural factor SMCHD1 in X-chromosome inactivation, gene regulation, and disease in humans – Genetics, October 2019
2018
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Dissecting the causal mechanism of X-linked Dystonia-Parkinsonism by integrating genome and transcriptome assembly – Cell, February 2018
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An analytical framework for whole-genome sequence association studies and its implications for autism spectrum disorder – Nature Genetics, April 2018
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Genome-wide de novo risk score implicates promoter variation in autism spectrum disorder – Science, December 2018
2017
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A novel microduplication of ARID1B: Clinical, genetics, and proteomic findings – American Journal of Medical Genetics, September 2017
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Computational prediction of position effects of apparently balanced human chromosomal rearrangements – American Journal of Human Genetics, August 2017
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WNT/β-Catenin Pathway and Epigenetic Mechanisms Regulate the Pitt-Hopkins Syndrome and Schizophrenia Risk Gene TCF4 – Molecular Neuropsychiatry, July 2017
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SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome – Nature Genetics, May 2017
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Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome – Genome Biology, March 2017
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Potential molecular consequences of transgene integration: the R6/2 mouse example – Scientific Reports, January 2017
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The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies – Nature Genetics, January 2017
2016
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Engineering micro deletions and micro duplications by targeting segmental duplications with CRISPR – Nature Neuroscience, March 2016
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Structural chromosomal rearrangements require nucleotide-level resolution: lessons from next-generation sequencing in prenatal diagnosis – American Journal of Human Genetics, November 2016
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Estrogen-related receptor gamma implicated in a phenotype including hearing loss and mild developmental delay – European Journal of Human Genetics, November 2016
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An Ancient, Unified Mechanism for Metformin Growth Inhibition in C. elegans and cancer – Cell, December 2016
2015
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Prenatal diagnosis of chromothripsis, with nine breaks characterized by karyotyping, FISH, microarray and whole-genome sequencing – Prenatal Diagnosis, March 2015
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Loss of delta-catenin function in severe autism – Nature, April 2015
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A potential contributory role for ciliary dysfunction in the 16p11.2 kb BP4-BP5 pathology – American Journal of Human Genetics, May 2015
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Paired-duplication signatures mark cryptic inversions and other complex structural variation – American Journal of Human Genetics, July 2015
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Insights into autism spectrum disorder genomic architecture and biology from 71 risk loci – Neuron, September 2015
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Mutations in DCHS1 cause mitral valve prolapse – Nature, September 2015
2014
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Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder – European Journal of Human Genetics, January 2014
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Design of large-insert jumping libraries for structural variant detection using Illumina sequencing – Current Protocols in Human Genetics, January 2014
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Transcriptional consequences of 16p11.2 deletion and duplication in mouse cortex and multiplex autism families – American Journal of Human Genetics, June 2014
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Cryptic and complex chromosomal aberrations in early-onset neuropsychiatric disorders – American Journal of Human Genetics, October 2014
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CHD8 regulates neurodevelopment pathways associated with autism spectrum disorder in neural progenitors – PNAS, October 2014
2013
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Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus – American Journal of Human Genetics, February 2013
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Disruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopment abnormalities – Molecular Psychiatry, March 2013
2012
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Complex reorganization and predominant non-homologous repair following chromosomal breakage in karyotypically balanced germline rearrangements and transgenic integration – Nature Genetics, March 2012
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Sequencing chromosomal abnormalities reveals neurodevelopment loci that confer risk across diagnostic boundaries – Cell, April 2012
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Clinical diagnosis by whole-genome sequencing of a prenatal sample – New England Journal of Medicine, December 2012
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Highly penetrant alterations of a critical region including BDNF in human psychopathology and obesity – Archives of General Psychiatry, December 2012
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Disruption of a large intergenic noncoding RNA in subjects with neurodevelopmental disabilities – American Journal of Human Genetics, December 2012
2011
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Next-generation sequencing strategies enable routine detection of balanced chromosome rearrangements for clinical diagnostics and genetic research – American Journal of Human Genetics, April 2011
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Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder – American Journal of Human Genetics, October 2011