Brian O'Roak

Assistant Professor

  • 12844 Citations
  • 36 h-Index
20052020

Research output per year

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Research Output

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. J., Eichler, E. E. & Bernier, R. A., Jan 15 2020, In : Biological Psychiatry. 87, 2, p. 123-131 9 p.

Research output: Contribution to journalArticle

  • 3 Scopus citations

    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

  • 26 Scopus citations

    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

  • 48 Scopus citations

    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

  • 25 Scopus citations

    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. J., Sep 7 2017, In : American Journal of Human Genetics. 101, 3, p. 369-390 22 p.

    Research output: Contribution to journalArticle

  • 52 Scopus citations