List of works - Brian J O'Roak

A de novo convergence of autism genetics and molecular neuroscience

scientific article

A general framework for estimating the relative pathogenicity of human genetic variants

scientific article (publication date: March 2014)

Autism genetics: strategies, challenges, and opportunities

scientific article (publication date: February 2008)

Copy number variation detection and genotyping from exome sequence data

scientific article

Current Perspectives in Autism Spectrum Disorder: From Genes to Therapy

scientific article

De novo TBR1 mutations in sporadic autism disrupt protein functions

scientific article

De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

scientific article

De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome

scientific article

Detection of structural variants and indels within exome data

scientific article

Disruptive CHD8 mutations define a subtype of autism early in development

scientific article

Erratum: Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

scholarly article by Brian J O'Roak et al published April 2012 in Nature Genetics

Estimating the human mutation rate using autozygosity in a founder population

scientific article

Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

scientific article (publication date: June 2011)

Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes

scientific article published on 23 August 2019

Exonic mosaic mutations contribute risk for autism spectrum disorder

scholarly article published 26 October 2016

GABRA1 and STXBP1: novel genetic causes of Dravet syndrome

scientific article published on 12 March 2014

GRIN2A mutations cause epilepsy-aphasia spectrum disorders

scientific article published on 11 August 2013

Genome-wide association study and admixture mapping reveal new loci associated with total IgE levels in Latinos

scientific article published on 6 December 2014

Haplotype evolution of SLITRK1, a candidate gene for Gilles de la Tourette syndrome

scientific article published on June 2008

Highly scalable generation of DNA methylation profiles in single cells

scientific article published on 09 April 2018

Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity

scientific article published on 19 June 2015

L-histidine decarboxylase and Tourette's syndrome

scientific article

Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies

scientific article published on 16 December 2015

MIPgen: optimized modeling and design of molecular inversion probes for targeted resequencing

scientific article

Molecular cytogenetic analysis and resequencing of contactin associated protein-like 2 in autism spectrum disorders

scientific article

Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism

scientific article (publication date: June 2011)

Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders

scientific article

Mutations and Modeling of the Chromatin Remodeler CHD8 Define an Emerging Autism Etiology

scientific article

Mutations in CSPP1 cause primary cilia abnormalities and Joubert syndrome with or without Jeune asphyxiating thoracic dystrophy

scientific article

Mutations in apoptosis-related gene, PDCD10, cause cerebral cavernous malformation 3.

scientific article

PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia

scientific article

Rapid and accurate large-scale genotyping of duplicated genes and discovery of interlocus gene conversions

scientific article published on 28 July 2013

Rare independent mutations in renal salt handling genes contribute to blood pressure variation

scientific article

Rare-variant extensions of the transmission disequilibrium test: application to autism exome sequence data

scientific article

Refining analyses of copy number variation identifies specific genes associated with developmental delay

scientific article

Scalable and efficient single-cell DNA methylation sequencing by combinatorial indexing

Sequence variants in SLITRK1 are associated with Tourette's syndrome

scientific article

Single molecule molecular inversion probes for targeted, high-accuracy detection of low-frequency variation

scientific article published on 4 February 2013

Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations

scientific article (publication date: 4 April 2012)

Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.

scientific article

The contribution of de novo coding mutations to autism spectrum disorder

scientific article

Transmission disequilibrium of small CNVs in simplex autism

scientific article published on 12 September 2013

Whole-genome sequencing of individuals from a founder population identifies candidate genes for asthma

scientific article

List of works by Brian J O'Roak

A de novo convergence of autism genetics and molecular neuroscience

A general framework for estimating the relative pathogenicity of human genetic variants

Autism genetics: strategies, challenges, and opportunities

Copy number variation detection and genotyping from exome sequence data

Current Perspectives in Autism Spectrum Disorder: From Genes to Therapy

De novo TBR1 mutations in sporadic autism disrupt protein functions

De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome

Detection of structural variants and indels within exome data

Disruptive CHD8 mutations define a subtype of autism early in development

Erratum: Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

Estimating the human mutation rate using autozygosity in a founder population

Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes

Exonic mosaic mutations contribute risk for autism spectrum disorder

GABRA1 and STXBP1: novel genetic causes of Dravet syndrome

GRIN2A mutations cause epilepsy-aphasia spectrum disorders

Genome-wide association study and admixture mapping reveal new loci associated with total IgE levels in Latinos

Haplotype evolution of SLITRK1, a candidate gene for Gilles de la Tourette syndrome

Highly scalable generation of DNA methylation profiles in single cells

Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity

L-histidine decarboxylase and Tourette's syndrome

Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies

MIPgen: optimized modeling and design of molecular inversion probes for targeted resequencing

Molecular cytogenetic analysis and resequencing of contactin associated protein-like 2 in autism spectrum disorders

Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism

Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders

Mutations and Modeling of the Chromatin Remodeler CHD8 Define an Emerging Autism Etiology

Mutations in CSPP1 cause primary cilia abnormalities and Joubert syndrome with or without Jeune asphyxiating thoracic dystrophy

Mutations in apoptosis-related gene, PDCD10, cause cerebral cavernous malformation 3.

PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia

Rapid and accurate large-scale genotyping of duplicated genes and discovery of interlocus gene conversions

Rare independent mutations in renal salt handling genes contribute to blood pressure variation

Rare-variant extensions of the transmission disequilibrium test: application to autism exome sequence data

Refining analyses of copy number variation identifies specific genes associated with developmental delay

Scalable and efficient single-cell DNA methylation sequencing by combinatorial indexing

Sequence variants in SLITRK1 are associated with Tourette's syndrome

Single molecule molecular inversion probes for targeted, high-accuracy detection of low-frequency variation

Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations

Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.

The contribution of de novo coding mutations to autism spectrum disorder

Transmission disequilibrium of small CNVs in simplex autism

Whole-genome sequencing of individuals from a founder population identifies candidate genes for asthma