Brian J. O'Roak, Ph.D.

Affiliations: 
Molecular & Medical Genetics Oregon Health and Science University, Portland, OR 
Area:
human genetics, autism
Website:
http://www.ohsu.edu/xd/education/schools/school-of-medicine/departments/basic-science-departments/molecular-and-medical-genetics/labs/oroak-lab/index.cfm
Google:
"Brian O'Roak"
Cross-listing: Neurotree

Parents

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Matthew W. State grad student 2009 Yale
 (A rare variant approach to gene discovery in neuropsychiatric disorders.)
Evan Eichler post-doc 2009- University of Washington
Jay Shendure post-doc 2009-2013 University of Washington
BETA: Related publications

Publications

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Mulqueen RM, Pokholok D, Norberg SJ, et al. (2018) Highly scalable generation of DNA methylation profiles in single cells. Nature Biotechnology
Krupp DR, Barnard RA, Duffourd Y, et al. (2017) Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder. American Journal of Human Genetics
Barnard RA, Pomaville MB, O'Roak BJ. (2015) Mutations and Modeling of the Chromatin Remodeler CHD8 Define an Emerging Autism Etiology. Frontiers in Neuroscience. 9: 477
Schueler M, Halbritter J, Phelps IG, et al. (2015) Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies. Journal of Medical Genetics
Bachmann-Gagescu R, Dempsey JC, Phelps IG, et al. (2015) Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. Journal of Medical Genetics
Jansen LA, Mirzaa GM, Ishak GE, et al. (2015) PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia. Brain : a Journal of Neurology. 138: 1613-28
Pino-Yanes M, Gignoux CR, Galanter JM, et al. (2015) Genome-wide association study and admixture mapping reveal new loci associated with total IgE levels in Latinos. The Journal of Allergy and Clinical Immunology. 135: 1502-10
Rehman AU, Santos-Cortez RL, Drummond MC, et al. (2014) Challenges and solutions for gene identification in the presence of familial locus heterogeneity. European Journal of Human Genetics : Ejhg
O'Roak BJ, Stessman HA, Boyle EA, et al. (2014) Recurrent de novo mutations implicate novel genes underlying simplex autism risk. Nature Communications. 5: 5595
Iossifov I, O'Roak BJ, Sanders SJ, et al. (2014) The contribution of de novo coding mutations to autism spectrum disorder. Nature. 515: 216-21
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