Brian O'Roak

Assistant Professor

  • 11378 Citations
  • 34 h-Index
20052018
If you made any changes in Pure, your changes will be visible here soon.

Fingerprint Dive into the research topics where Brian O'Roak is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 3 Similar Profiles
Mutation Medicine & Life Sciences
Autistic Disorder Medicine & Life Sciences
Exome Medicine & Life Sciences
Genes Medicine & Life Sciences
Tourette Syndrome Medicine & Life Sciences
Genetic Heterogeneity Medicine & Life Sciences
Megalencephaly Medicine & Life Sciences
Medical Genetics Medicine & Life Sciences

Network Recent external collaboration on country level. Dive into details by clicking on the dots.

Research Output 2005 2018

  • 11378 Citations
  • 34 h-Index
  • 47 Article
  • 2 Short survey
8 Citations (Scopus)

A Saturation Mutagenesis Approach to Understanding PTEN Lipid Phosphatase Activity and Genotype-Phenotype Relationships

Mighell, T. L., Evans-Dutson, S. & O'Roak, B., May 3 2018, In : American Journal of Human Genetics. 102, 5, p. 943-955 13 p.

Research output: Contribution to journalArticle

Phosphoric Monoester Hydrolases
Mutagenesis
Genotype
Phenotype
Lipids
28 Citations (Scopus)

Highly scalable generation of DNA methylation profiles in single cells

Mulqueen, R. M., Pokholok, D., Norberg, S. J., Torkenczy, K. A., Fields, A. J., Sun, D., Sinnamon, J. R., Shendure, J., Trapnell, C., O'Roak, B., Xia, Z., Steemers, F. J. & Adey, A., Jun 1 2018, In : Nature Biotechnology. 36, 5, p. 428-431 4 p.

Research output: Contribution to journalArticle

Methylation
DNA Methylation
Assays
Genes
Cells
14 Citations (Scopus)

SPARK: A US Cohort of 50,000 Families to Accelerate Autism Research

The SPARK Consortium, Feb 7 2018, In : Neuron. 97, 3, p. 488-493 6 p.

Research output: Contribution to journalShort survey

Autistic Disorder
Research
Research Personnel
Autism Spectrum Disorder
34 Citations (Scopus)

Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder

Krupp, D. R., Barnard, R. A., Duffourd, Y., Evans, S. A., Mulqueen, R. M., Bernier, R., Rivière, J. B., Fombonne, E. & O'Roak, B., 2017, (Accepted/In press) In : American Journal of Human Genetics.

Research output: Contribution to journalArticle

Mutation
Autism Spectrum Disorder
Nucleotides
Genes
Exome
25 Citations (Scopus)

Current perspectives in autism spectrum disorder: From genes to therapy

Chahrour, M., O'Roak, B., Santini, E., Samaco, R. C., Kleiman, R. J. & Manzini, M. C., Nov 9 2016, In : Journal of Neuroscience. 36, 45, p. 11402-11410 9 p.

Research output: Contribution to journalArticle

Genetic Therapy
Mutation
Chromatin Assembly and Disassembly
Genetic Heterogeneity
Social Behavior