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
bioRxiv preprints
-
High coverage whole genome sequencing of the expanded 1000 Genomes Project cohort including 602 trios, posted February 7, 2021
-
Systematic evaluation of genome sequencing as a first-tier diagnostic test for prenatal and pediatric disorders, posted August 13, 2020
-
Parallelized engineering of mutational models using piggyBac transposon delivery of CRISPR libraries, posted July 11, 2020
-
Expectations and blind spots for structural variation detection from short-read alignment and long-read assembly, posted July 4, 2020
-
CHD8 Suppression Impacts on Histone H3 Lysine 36 Trimethylation and Alters RNA Alternative Splicing, posted March 16, 2020; submitted
-
A deep learning approach to identify new gene targets of a novel therapeutic for human splicing disorders, posted February 4, 2020; in revision
2021
-
De novo structural mutation rates and gamete-of-origin biases revealed through genome sequencing of 2,396 families – American Journal of Human Genetics, March 2021
2020
-
New gene discoveries highlight functional convergence in autism and related neurodevelopmental disorders – Current Opinion in Genetics & Development, December 2020
-
Functional Annotation of Rare Structural Variation in the Human Brain – Nature Communications, June 2020
-
Transcriptional consequences of MBD5 disruption in mouse brain and CRISPR-derived neurons – Molecular Autism, June 2020
-
A structural variation reference for medical and population genetics – Nature, May 2020
-
The mutational constraint spectrum quantified from variation in 141,456 humans – Nature, May 2020
-
Large-scale exome sequencing study implicates both developmental and functional changes in the neurobiology of autism – Cell, February 2020
-
The effects of common structural variants on 3D chromatin structure – BMC Genomics, January 2020
-
Biallelic mutation of FBXL7 suggests a novel form of Hennekam syndrome – American Journal of Medical Genetics, January 2020
2019
-
Next generation sequencing of prenatal structural chromosomal rearrangements using large-insert libraries – Methods in Molecular Biology, 2019
-
Introduction of genomics into prenatal diagnostics – Lancet, February 2019
-
Multi-platform discovery of haplotype-resolved structural variation in human genomes – Nature Communications, April 2019
-
Kctd13-deficient mice display short-term memory impairment and sex-dependent genetic interactions – Human Molecular Genetics, May 2019
-
Role of the chromosome architectural factor SMCHD1 in X-chromosome inactivation, gene regulation, and disease in humans – Genetics, October 2019
2018
-
Dissecting the causal mechanism of X-linked Dystonia-Parkinsonism by integrating genome and transcriptome assembly – Cell, February 2018
-
An analytical framework for whole-genome sequence association studies and its implications for autism spectrum disorder – Nature Genetics, April 2018
-
Genome-wide de novo risk score implicates promoter variation in autism spectrum disorder – Science, December 2018
2017
-
A novel microduplication of ARID1B: Clinical, genetics, and proteomic findings – American Journal of Medical Genetics, September 2017
-
Computational prediction of position effects of apparently balanced human chromosomal rearrangements – American Journal of Human Genetics, August 2017
-
WNT/β-Catenin Pathway and Epigenetic Mechanisms Regulate the Pitt-Hopkins Syndrome and Schizophrenia Risk Gene TCF4 – Molecular Neuropsychiatry, July 2017
-
SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome – Nature Genetics, May 2017
-
Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome – Genome Biology, March 2017
-
Potential molecular consequences of transgene integration: the R6/2 mouse example – Scientific Reports, January 2017
-
The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies – Nature Genetics, January 2017
2016
-
Engineering micro deletions and micro duplications by targeting segmental duplications with CRISPR – Nature Neuroscience, March 2016
-
Structural chromosomal rearrangements require nucleotide-level resolution: lessons from next-generation sequencing in prenatal diagnosis – American Journal of Human Genetics, November 2016
-
Estrogen-related receptor gamma implicated in a phenotype including hearing loss and mild developmental delay – European Journal of Human Genetics, November 2016
-
An Ancient, Unified Mechanism for Metformin Growth Inhibition in C. elegans and cancer – Cell, December 2016
2015
-
Prenatal diagnosis of chromothripsis, with nine breaks characterized by karyotyping, FISH, microarray and whole-genome sequencing – Prenatal Diagnosis, March 2015
-
Loss of delta-catenin function in severe autism – Nature, April 2015
-
A potential contributory role for ciliary dysfunction in the 16p11.2 kb BP4-BP5 pathology – American Journal of Human Genetics, May 2015
-
Paired-duplication signatures mark cryptic inversions and other complex structural variation – American Journal of Human Genetics, July 2015
-
Insights into autism spectrum disorder genomic architecture and biology from 71 risk loci – Neuron, September 2015
-
Mutations in DCHS1 cause mitral valve prolapse – Nature, September 2015
2014
-
Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder – European Journal of Human Genetics, January 2014
-
Design of large-insert jumping libraries for structural variant detection using Illumina sequencing – Current Protocols in Human Genetics, January 2014
-
Transcriptional consequences of 16p11.2 deletion and duplication in mouse cortex and multiplex autism families – American Journal of Human Genetics, June 2014
-
Cryptic and complex chromosomal aberrations in early-onset neuropsychiatric disorders – American Journal of Human Genetics, October 2014
-
CHD8 regulates neurodevelopment pathways associated with autism spectrum disorder in neural progenitors – PNAS, October 2014
2013
-
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
-
Disruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopment abnormalities – Molecular Psychiatry, March 2013
2012
-
Complex reorganization and predominant non-homologous repair following chromosomal breakage in karyotypically balanced germline rearrangements and transgenic integration – Nature Genetics, March 2012
-
Sequencing chromosomal abnormalities reveals neurodevelopment loci that confer risk across diagnostic boundaries – Cell, April 2012
-
Clinical diagnosis by whole-genome sequencing of a prenatal sample – New England Journal of Medicine, December 2012
-
Highly penetrant alterations of a critical region including BDNF in human psychopathology and obesity – Archives of General Psychiatry, December 2012
-
Disruption of a large intergenic noncoding RNA in subjects with neurodevelopmental disabilities – American Journal of Human Genetics, December 2012
2011
-
Next-generation sequencing strategies enable routine detection of balanced chromosome rearrangements for clinical diagnostics and genetic research – American Journal of Human Genetics, April 2011
-
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