Brian J. O'Roak

Genetics · 2005–2018

A researcher in the Science corpus: 14 papers; trusts 4 researchers and is trusted by 0 researchers here, as inferred from the citation graph.

Subfields

• Genetics — 192 citations into it
• Molecular Biology — 171 citations into it

Whom Brian J. O'Roak trusts overall

Their strongest outbound trust, strongest first, inferred from their citations.

1. Gregory M. Cooper
2. Michael Lynch
3. Daniel H. Geschwind
4. Matthias Heinig

Who trusts Brian J. O'Roak overall

1. Neelroop Parikshak
2. Michael Jeffrey Gandal
3. Daniel H. Geschwind
4. Yongwook Choi
5. Steven Lin
6. Kaitlin E. Samocha
7. Michael Bamshad

Papers from Brian J. O'Roak's perspective

Ordered by how strongly the researchers Brian J. O'Roak trusts endorse each paper. Same corpus, a different order for every researcher.

1. Association between microdeletion and microduplication at 16p11.2 and autism. (New England Journal of Medicine)
2. Detection of large-scale variation in the human genome (Nature Genetics)
3. The Human Gene Mutation Database: 2008 update
4. Common genetic variants on 5p14.1 associate with autism spectrum disorders (Nature)
5. Recessive symptomatic focal epilepsy and mutant contactin-associated protein-like 2. (New England Journal of Medicine)
6. Functional Impact of Global Rare Copy Number Variation in Autism Spectrum Disorder (Nature)
7. Potential etiologic and functional implications of genome-wide association loci for human diseases and traits (Proceedings of the National Academy of Sciences of the United States of America)
8. Detection of nonneutral substitution rates on mammalian phylogenies.
9. Enredo and Pecan: genome-wide mammalian consistency-based multiple alignment with paralogs. (Genome Research)
10. Advances in autism genetics: on the threshold of a new neurobiology (Nature reviews genetics)

Their papers

• A general framework for estimating the relative pathogenicity of human genetic variants (2014) — 5,961 citations
• Sequence Variants in SLITRK1 Are Associated with Tourette's Syndrome (2005) — 972 citations
• Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism. (2011) — 1,286 citations
• A saturation mutagenesis approach to understanding PTEN lipid phosphatase activity and genotype-phenotypes relationships (2018) — 203 citations
• Rare independent mutations in renal salt handling genes contribute to blood pressure variation (2008) — 846 citations
• Refining analyses of copy number variation identifies specific genes associated with developmental delay (2014) — 676 citations
• Multiplex Targeted Sequencing Identifies Recurrently Mutated Genes in Autism Spectrum Disorders (2012) — 1,254 citations
• Disruptive CHD8 mutations define a subtype of autism early in development (2014) — 750 citations
• The contribution of de novo coding mutations to autism spectrum disorder (2014) — 2,476 citations
• Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1 (2013) — 657 citations
• Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations (2012) — 2,200 citations
• De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes (2012) — 688 citations
• Copy number variation detection and genotyping from exome sequence data (2012) — 660 citations
• Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations (2011) — 1,162 citations