Photo of Brian O'Roak, Ph.D.

Brian O'Roak Ph.D.

    • Assistant Professor of Molecular and Medical Genetics School of Medicine
    • Molecular and Medical Genetics Graduate Program School of Medicine
    • Neuroscience Graduate Program School of Medicine

I’m originally from California’s Central Valley. After earning a B.S. in Biology at CSU Fresno, I did my PhD studies at Yale University working with Dr. Matthew W. State in the Department of Genetics. I then went on for postdoctoral training in the Department of Genome Sciences at the University of Washington, under Drs. Evan E. Eichler and Jay Shendure. I joined the MMG faculty in Fall 2013.

Publications

  • "Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder." American Journal of Human Genetics In: , 2017.
  • "Current perspectives in autism spectrum disorder : From genes to therapy." Journal of Neuroscience  In: , Vol. 36, No. 45, 09.11.2016, p. 11402-11410.
  • "Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies." Journal of Medical Genetics  In: , Vol. 53, No. 3, 2016, p. 208-214.
  • "Challenges and solutions for gene identification in the presence of familial locus heterogeneity." European Journal of Human Genetics  In: , Vol. 23, No. 9, 14.09.2015, p. 1207-1215.
  • "Genotype-Phenotype correlations in Joubert Syndrome in the Era of Next Generation Sequencing." Cilia In: , No. SUPPLEMENT 1, P8, 13.07.2015.
  • "Genome-wide association study and admixture mapping reveal new loci associated with total IgE levels in Latinos." Journal of Allergy and Clinical Immunology In: , Vol. 135, No. 6, 01.06.2015, p. 1502-1510.
  • "PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia." Brain In: , Vol. 138, No. 6, 01.06.2015, p. 1613-1628.
  • "Joubert syndrome : A model for untangling recessive disorders with extreme genetic heterogeneity." Journal of Medical Genetics  In: , Vol. 52, No. 8, 2015, p. 514-522.
  • "Mutations and modeling of the chromatin remodeler CHD8 define an emerging autism etiology." Frontiers in Neuroscience In: , Vol. 9, No. DEC, 00477, 2015.
  • "The contribution of de novo coding mutations to autism spectrum disorder." Nature  In: , Vol. 515, No. 7526, 13.11.2014, p. 216-221.
  • "Refining analyses of copy number variation identifies specific genes associated with developmental delay." Nature Genetics In: , Vol. 46, No. 10, 26.09.2014, p. 1063-1071.
  • "Whole-genome sequencing of individuals from a founder population identifies candidate genes for asthma." PLoS One In: , Vol. 9, No. 8, e104396, 12.08.2014.
  • "Disruptive CHD8 mutations define a subtype of autism early in development." Cell In: , Vol. 158, No. 2, 17.07.2014, p. 263-276.
  • "GABRA1 and STXBP1 : Novel genetic causes of Dravet syndrome." Neurology In: , Vol. 82, No. 14, 08.04.2014, p. 1245-1253.
  • "Erratum : Mutations in CSPP1 cause primary cilia abnormalities and Joubert syndrome with or without jeune asphyxiating thoracic dystrophy (American Journal of Human Genetics (2014) 94 (62-72))." American Journal of Human Genetics In: , Vol. 94, No. 2, 06.02.2014, p. 310.
  • "A de novo convergence of autism genetics and molecular neuroscience." Trends in Neurosciences In: , Vol. 37, No. 2, 02.2014, p. 95-105.
  • "Mutations in CSPP1 cause primary cilia abnormalities and joubert syndrome with or without Jeune asphyxiating thoracic dystrophy." American Journal of Human Genetics In: , Vol. 94, No. 1, 02.01.2014, p. 62-72.
  • "Rare-variant extensions of the transmission disequilibrium test : Application to autism exome sequence data." American Journal of Human Genetics In: , Vol. 94, No. 1, 02.01.2014, p. 33-46.
  • "A general framework for estimating the relative pathogenicity of human genetic variants." Nature Genetics  In: , Vol. 46, No. 3, 2014, p. 310-315.
  • "De novo TBR1 mutations in sporadic autism disrupt protein functions." Nature Communications In: , Vol. 5, 4954, 2014.
  • "Recurrent de novo mutations implicate novel genes underlying simplex autism risk." Nature Communications In: , Vol. 5, 5595, 2014.
  • "MIPgen : Optimized modeling and design of molecular inversion probes for targeted resequencing." Bioinformatics  In: , Vol. 30, No. 18, 2014, p. 2670-2672.
  • "Transmission disequilibrium of small CNVs in simplex autism." American Journal of Human Genetics In: , Vol. 93, No. 4, 03.10.2013, p. 595-606.
  • "GRIN2A mutations cause epilepsy-aphasia spectrum disorders." Nature Genetics In: , Vol. 45, No. 9, 09.2013, p. 1073-1076.
  • "Rapid and accurate large-scale genotyping of duplicated genes and discovery of interlocus gene conversions." Nature Methods In: , Vol. 10, No. 9, 09.2013, p. 903-909.
  • "Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1." Nature Genetics In: , Vol. 45, No. 7, 07.2013, p. 825-830.
  • "Single molecule molecular inversion probes for targeted, high-accuracy detection of low-frequency variation." Genome Research  In: , Vol. 23, No. 5, 05.2013, p. 843-854.
  • "Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders." Science  In: , Vol. 338, No. 6114, 21.12.2012, p. 1619-1622.
  • "Estimating the human mutation rate using autozygosity in a founder population." Nature Genetics In: , Vol. 44, No. 11, 11.2012, p. 1277-1281.
  • "Copy number variation detection and genotyping from exome sequence data." Genome Research In: , Vol. 22, No. 8, 08.2012, p. 1525-1532.

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