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Acorn: an R package for de novo variant analysis

BMC bioinformatics, 2023-09, Vol.24 (1), p.1-330, 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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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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Genomic Patterns of De Novo Mutation in Simplex Autism

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

2017

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Revealing rate-limiting steps in complex disease biology: The crucial importance of studying rare, extreme-phenotype families

BioEssays, 2016-06, Vol.38 (6), p.578-586

2016

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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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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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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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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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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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Using a new analytic approach for genotyping and phenotyping chromosome 9p deletion syndrome

European journal of human genetics : EJHG, 2024-09, Vol.32 (9), p.1095-1105

2024

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Clinical phenotype of ASD-associated DYRK1A haploinsufficiency

Molecular autism, 2017-10, Vol.8 (1), p.54-54, Article 54

2017

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Germline mosaicism of a missense variant in KCNC2 in a multiplex family with autism and epilepsy characterized by long‐read sequencing

American journal of medical genetics. Part A, 2022-07, Vol.188 (7), p.2071-2081

2022

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Clinical Phenotypes of Carriers of Mutations in CHD8 or Its Conserved Target Genes

Biological psychiatry (1969), 2020-01, Vol.87 (2), p.123-131

2020

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The autism spectrum phenotype in ADNP syndrome

Autism research, 2018-09, Vol.11 (9), p.1300-1310

2018

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de novo variant calling identifies cancer mutation signatures in the 1000 Genomes Project

Human mutation, 2022-12, Vol.43 (12), p.1979-1993

2022

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A gap-free genome assembly of Chlamydomonas reinhardtii and detection of translocations induced by CRISPR-mediated mutagenesis

Plant communications, 2023-03, Vol.4 (2), p.100493, Article 100493

2023

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Affected kindred analysis of human X chromosome exomes to identify novel X-linked intellectual disability genes

PloS one, 2015-02, Vol.10 (2), p.e0116454-e0116454

2015

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Genetic counseling as preventive intervention: toward individual specification of transgenerational autism risk

Journal of neurodevelopmental disorders, 2021-12, Vol.13 (1), p.39-39, Article 39

2021

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Comorbid symptoms of inattention, autism, and executive cognition in youth with putative genetic risk

Journal of child psychology and psychiatry, 2018-03, Vol.59 (3), p.268-276

2018

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Acorn: an R package for de novo variant analysis

The Role of De Novo Noncoding Regulatory Mutations in Neurodevelopmental Disorders

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

Genomic Patterns of De Novo Mutation in Simplex Autism

Revealing rate-limiting steps in complex disease biology: The crucial importance of studying rare, extreme-phenotype families

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

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?

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

ACES: Analysis of Conservation with an Extensive list of Species

Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains

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

Using a new analytic approach for genotyping and phenotyping chromosome 9p deletion syndrome

Clinical phenotype of ASD-associated DYRK1A haploinsufficiency

Germline mosaicism of a missense variant in KCNC2 in a multiplex family with autism and epilepsy characterized by long‐read sequencing

Clinical Phenotypes of Carriers of Mutations in CHD8 or Its Conserved Target Genes

The autism spectrum phenotype in ADNP syndrome

de novo variant calling identifies cancer mutation signatures in the 1000 Genomes Project

A gap-free genome assembly of Chlamydomonas reinhardtii and detection of translocations induced by CRISPR-mediated mutagenesis

Affected kindred analysis of human X chromosome exomes to identify novel X-linked intellectual disability genes

Genetic counseling as preventive intervention: toward individual specification of transgenerational autism risk

Comorbid symptoms of inattention, autism, and executive cognition in youth with putative genetic risk

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