Brian O'Roak

Assistant Professor

  • 11668 Citations
  • 35 h-Index
20052019
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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

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Research Output 2005 2019

  • 11668 Citations
  • 35 h-Index
  • 48 Article
  • 2 Short survey

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

Beighley, J. S., Hudac, C. M., Arnett, A. B., Peterson, J. L., Gerdts, J., Wallace, A. S., Mefford, H. C., Hoekzema, K., Turner, T. N., O'Roak, B., Eichler, E. E. & Bernier, R. A., Jan 1 2019, (Accepted/In press) In : Biological Psychiatry.

Research output: Contribution to journalArticle

DNA-Binding Proteins
Phenotype
Mutation
Genes
Exome
10 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
31 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
37 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