User profiles for B. J. O'Roak
Brian J. O'RoakOregon Health & Science University Verified email at ohsu.edu Cited by 28326 |
A general framework for estimating the relative pathogenicity of human genetic variants
Current methods for annotating and interpreting human genetic variation tend to exploit a
single information type (for example, conservation) and/or are restricted in scope (for example, …
single information type (for example, conservation) and/or are restricted in scope (for example, …
The contribution of de novo coding mutations to autism spectrum disorder
Whole exome sequencing has proven to be a powerful tool for understanding the genetic
architecture of human disease. Here we apply it to more than 2,500 simplex families, each …
architecture of human disease. Here we apply it to more than 2,500 simplex families, each …
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations
It is well established that autism spectrum disorders (ASD) have a strong genetic component;
however, for at least 70% of cases, the underlying genetic cause is unknown 1 . Under the …
however, for at least 70% of cases, the underlying genetic cause is unknown 1 . Under the …
[PDF][PDF] Multiple recurrent de novo CNVs, including duplications of the 7q11. 23 Williams syndrome region, are strongly associated with autism
…, KA Meyer, WJ Moffat, JD Murdoch, BJ O'Roak… - Neuron, 2011 - cell.com
We have undertaken a genome-wide analysis of rare copy-number variation (CNV) in 1124
autism spectrum disorder (ASD) families, each comprised of a single proband, unaffected …
autism spectrum disorder (ASD) families, each comprised of a single proband, unaffected …
Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders
BJ O'Roak, L Vives, W Fu, JD Egertson, IB Stanaway… - Science, 2012 - science.org
Exome sequencing studies of autism spectrum disorders (ASDs) have identified many de
novo mutations but few recurrently disrupted genes. We therefore developed a modified …
novo mutations but few recurrently disrupted genes. We therefore developed a modified …
Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations
BJ O'Roak, P Deriziotis, C Lee, L Vives, JJ Schwartz… - Nature …, 2011 - nature.com
Evidence for the etiology of autism spectrum disorders (ASDs) has consistently pointed to a
strong genetic component complicated by substantial locus heterogeneity 1 , 2 . We …
strong genetic component complicated by substantial locus heterogeneity 1 , 2 . We …
Sequence Variants in SLITRK1 Are Associated with Tourette's Syndrome
Tourette's syndrome (TS) is a genetically influenced developmental neuropsychiatric disorder
characterized by chronic vocal and motor tics. We studied Slit and Trk-like 1 (SLITRK1) as …
characterized by chronic vocal and motor tics. We studied Slit and Trk-like 1 (SLITRK1) as …
Rare independent mutations in renal salt handling genes contribute to blood pressure variation
The effects of alleles in many genes are believed to contribute to common complex diseases
such as hypertension. Whether risk alleles comprise a small number of common variants or …
such as hypertension. Whether risk alleles comprise a small number of common variants or …
[HTML][HTML] Disruptive CHD8 mutations define a subtype of autism early in development
Autism spectrum disorder (ASD) is a heterogeneous disease in which efforts to define
subtypes behaviorally have met with limited success. Hypothesizing that genetically based …
subtypes behaviorally have met with limited success. Hypothesizing that genetically based …
De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes
JB Rivière, GM Mirzaa, BJ O'Roak, M Beddaoui… - Nature …, 2012 - nature.com
Megalencephaly-capillary malformation (MCAP) and megalencephaly-polymicrogyria-polydactyly-hydrocephalus
(MPPH) syndromes are sporadic overgrowth disorders associated …
(MPPH) syndromes are sporadic overgrowth disorders associated …