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Acorn: an R package for de novo variant analysis

BMC bioinformatics, 2023-09, Vol.24 (1), p.330-6, Article 330

Turner, Tychele N

2023

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The Role of De Novo Noncoding Regulatory Mutations in Neurodevelopmental Disorders

Trends in neurosciences (Regular ed.), 2019-02, Vol.42 (2), p.115-127

2019

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Genome Sequencing of Autism-Affected Families Reveals Disruption of Putative Noncoding Regulatory DNA

American journal of human genetics, 2016-01, Vol.98 (1), p.58-74

2016

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Excess of rare, inherited truncating mutations in autism

Nature genetics, 2015-06, Vol.47 (6), p.582-588

2015

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Genomic Patterns of De Novo Mutation in Simplex Autism

Cell, 2017-10, Vol.171 (3), p.710-722.e12

2017

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Large-Scale Population-Based Assessment of Psychiatric Comorbidities in Autism Spectrum Disorder and Attention-Deficit/Hyperactivity Disorder

Biological psychiatry (1969), 2019-10, Vol.86 (8), p.e25-e27

Turner, Tychele N.

2019

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Molecular Genetic Anatomy and Risk Profile of Hirschsprung’s Disease

The New England journal of medicine, 2019-04, Vol.380 (15), p.1421-1432

2019

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Sex-Based Analysis of De Novo Variants in Neurodevelopmental Disorders

American journal of human genetics, 2019-12, Vol.105 (6), p.1274-1285

2019

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De novo genic mutations among a Chinese autism spectrum disorder cohort

Nature communications, 2016-11, Vol.7 (1), p.13316-13316, Article 13316

2016

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HAT: de novo variant calling for highly accurate short-read and long-read sequencing data

Bioinformatics (Oxford, England), 2024-01, Vol.40 (1)

2024

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Single-cell epigenomics reveals mechanisms of human cortical development

Nature (London), 2021-10, Vol.598 (7879), p.205-213

2021

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Recurrent de novo mutations in neurodevelopmental disorders: properties and clinical implications

Genome medicine, 2017-11, Vol.9 (1), p.101-101, Article 101

2017

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Thousands of high-quality sequencing samples fail to show meaningful correlation between 5S and 45S ribosomal DNA arrays in humans

Scientific reports, 2021-01, Vol.11 (1), p.449-449, Article 449

2021

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Can the “female protective effect” liability threshold model explain sex differences in autism spectrum disorder?

Neuron (Cambridge, Mass.), 2022-10, Vol.110 (20), p.3243-3262

2022

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Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases

Nature genetics, 2017-04, Vol.49 (4), p.515-526

2017

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Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes

Genetics in medicine, 2019-07, Vol.21 (7), p.1611-1620

2019

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Recent ultra-rare inherited variants implicate new autism candidate risk genes

Nature genetics, 2021-08, Vol.53 (8), p.1125-1134

2021

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ACES: Analysis of Conservation with an Extensive list of Species

Bioinformatics (Oxford, England), 2021-11, Vol.37 (21), p.3920-3922

2021

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Loss of δ-catenin function in severe autism

Nature (London), 2015-04, Vol.520 (7545), p.51-56

2015

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Proteins linked to autosomal dominant and autosomal recessive disorders harbor characteristic rare missense mutation distribution patterns

Human molecular genetics, 2015-11, Vol.24 (21), p.5995-6002

2015

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Altered neuronal physiology, development, and function associated with a common chromosome 15 duplication involving CHRNA7

BMC biology, 2021-07, Vol.19 (1), p.147-26, Article 147

2021

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A common single nucleotide variant in the cytokine receptor-like factor-3 (CRLF3) gene causes neuronal deficits in human and mouse cells

Human molecular genetics, 2023-12, Vol.32 (24), p.3342-3352

2023

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Acorn: an R package for de novo variant analysis

The Role of De Novo Noncoding Regulatory Mutations in Neurodevelopmental Disorders

Genome Sequencing of Autism-Affected Families Reveals Disruption of Putative Noncoding Regulatory DNA

Excess of rare, inherited truncating mutations in autism

Genomic Patterns of De Novo Mutation in Simplex Autism

Large-Scale Population-Based Assessment of Psychiatric Comorbidities in Autism Spectrum Disorder and Attention-Deficit/Hyperactivity Disorder

Molecular Genetic Anatomy and Risk Profile of Hirschsprung’s Disease

Sex-Based Analysis of De Novo Variants in Neurodevelopmental Disorders

De novo genic mutations among a Chinese autism spectrum disorder cohort

HAT: de novo variant calling for highly accurate short-read and long-read sequencing data

Single-cell epigenomics reveals mechanisms of human cortical development

Recurrent de novo mutations in neurodevelopmental disorders: properties and clinical implications

Thousands of high-quality sequencing samples fail to show meaningful correlation between 5S and 45S ribosomal DNA arrays in humans

The Mutationathon highlights the importance of reaching standardization in estimates of pedigree-based germline mutation rates

Can the “female protective effect” liability threshold model explain sex differences in autism spectrum disorder?

Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases

Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes

Recent ultra-rare inherited variants implicate new autism candidate risk genes

ACES: Analysis of Conservation with an Extensive list of Species

Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains

Loss of δ-catenin function in severe autism

Coding and noncoding variants in EBF3 are involved in HADDS and simplex autism

Proteins linked to autosomal dominant and autosomal recessive disorders harbor characteristic rare missense mutation distribution patterns

Altered neuronal physiology, development, and function associated with a common chromosome 15 duplication involving CHRNA7

A common single nucleotide variant in the cytokine receptor-like factor-3 (CRLF3) gene causes neuronal deficits in human and mouse cells

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