Selected Publications

A cell type-aware framework for nominating non-coding variants in Mendelian regulatory disorders – Nature Communications, September 2024

Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders – Genetics in Medicine, July 2024

Genome Sequencing for Diagnosing Rare Diseases – NEJM, June 2024

Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease – AJHG, May 2024

Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features – HGG Advances, April 2024

Improving prenatal diagnosis through standards and aggregation – Prenatal Diagnosis, April 2024

Transcriptome analysis in a humanized mouse model of familial dysautonomia reveals tissue-specific gene expression disruption in the peripheral nervous system – Scientific Report, January 2024

Parallelized engineering of mutational models using piggyBac transposon delivery of CRISPR libraries – Cell Rep Methods, January 2024

Transcriptome analysis in a humanized mouse model of familial dysautonomia reveals tissue-specific gene expression disruption in the peripheral nervous system – Sci Rep, January 2024

A genomic mutational constraint map using variation in 76,156 human genomes – Nature, January 2024

High-resolution and Noninvasive Fetal Exome Screening – NEJM, November 2023

Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomalies – AJHG, September 2023

GATK-gCNV enables the discovery of rare copy number variants from exome sequencing data – Nature Genetics, September 2023

Convergent coexpression of autism-associated genes suggests some novel risk genes may not be detectable in large-scale genetic studies – Cell Genomics, April 2023

Genome-wide analysis of structural variants in Parkinson disease – Annals of Neurology, January 2023

Transcriptional and functional consequences of alterations to MEF2C and its topological organization in neuronal models – American Journal of Human Genetics, November 2022

Tissue- and cell-type-specific molecular and functional signatures of 16p11.2 reciprocal genomic disorder across mouse brain and human neuronal models – American Journal of Human Genetics, September 2022

High-coverage whole-genome sequencing of the expanded 1000 Genomes Project cohort including 602 trios – Cell, September 2022

Rare coding variation provides insight into the genetic architecture and phenotypic context of autism – Nature Genetics, August 2022

A cross-disorder dosage sensitivity map of the human genome – Cell, August 2022

Developmental regulation of neuronal gene expression by Elongator complex protein 1 dosage – Journal of Genetics and Genomics, July 2022

The female protective effect against autism spectrum disorder – Cell Genomics, June 2022

A deep learning approach to identify gene targets of a therapeutic for human splicing disorders – Nature Communications, June 2021

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

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

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 2020A 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

Next generation sequencing of prenatal structural chromosomal rearrangements using large-insert libraries – Methods in Molecular Biology, December 2019

Role of the chromosome architectural factor SMCHD1 in X-chromosome inactivation, gene regulation, and disease in humans – Genetics, October 2019

Kctd13-deficient mice display short-term memory impairment and sex-dependent genetic interactions – Human Molecular Genetics, May 2019

Multi-platform discovery of haplotype-resolved structural variation in human genomes – Nature Communications, April 2019

Introduction of genomics into prenatal diagnostics – Lancet, February 2019

Genome-wide de novo risk score implicates promoter variation in autism spectrum disorder – Science, December 2018

An analytical framework for whole-genome sequence association studies and its implications for autism spectrum disorder – Nature Genetics, April 2018

Dissecting the causal mechanism of X-linked Dystonia-Parkinsonism by integrating genome and transcriptome assembly – Cell, February 2018

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

An Ancient, Unified Mechanism for Metformin Growth Inhibition in C. elegans and cancer – Cell, December 2016

Estrogen-related receptor gamma implicated in a phenotype including hearing loss and mild developmental delay – European Journal of Human Genetics, November 2016

Structural chromosomal rearrangements require nucleotide-level resolution: lessons from next-generation sequencing in prenatal diagnosis – American Journal of Human Genetics, November 2016

Engineering micro deletions and micro duplications by targeting segmental duplications with CRISPR – Nature Neuroscience, March 2016

Mutations in DCHS1 cause mitral valve prolapse – Nature, September 2015

Insights into autism spectrum disorder genomic architecture and biology from 71 risk loci – Neuron, September 2015

Paired-duplication signatures mark cryptic inversions and other complex structural variation – American Journal of Human Genetics, July 2015

A potential contributory role for ciliary dysfunction in the 16p11.2 kb BP4-BP5 pathology – American Journal of Human Genetics, May 2015

Loss of delta-catenin function in severe autism – Nature, April 2015

Prenatal diagnosis of chromothripsis, with nine breaks characterized by karyotyping, FISH, microarray and whole-genome sequencing – Prenatal Diagnosis, March 2015

CHD8 regulates neurodevelopment pathways associated with autism spectrum disorder in neural progenitors – PNAS, October 2014

Cryptic and complex chromosomal aberrations in early-onset neuropsychiatric disorders – American Journal of Human Genetics, October 2014

Transcriptional consequences of 16p11.2 deletion and duplication in mouse cortex and multiplex autism families – American Journal of Human Genetics, June 2014

Design of large-insert jumping libraries for structural variant detection using Illumina sequencing – Current Protocols in Human Genetics, January 2014

Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder – European Journal of Human Genetics, January 2014

Disruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopment abnormalities – Molecular Psychiatry, March 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 a large intergenic noncoding RNA in subjects with neurodevelopmental disabilities – American Journal of Human Genetics, December 2012

Highly penetrant alterations of a critical region including BDNF in human psychopathology and obesity – Archives of General Psychiatry, December 2012

Clinical diagnosis by whole-genome sequencing of a prenatal sample – New England Journal of Medicine, December 2012

Sequencing chromosomal abnormalities reveals neurodevelopment loci that confer risk across diagnostic boundaries – Cell, April 2012

Complex reorganization and predominant non-homologous repair following chromosomal breakage in karyotypically balanced germline rearrangements and transgenic integration – Nature Genetics, March 2012

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