Mutations and Modeling of the Chromatin Remodeler CHD8 Define an Emerging Autism Etiology

Por Barnard, Rebecca A., Pomaville, Matthew B., O'Roak, Brian J.
Publicado no Front Neurosci (2015)

A de novo convergence of autism genetics and molecular neuroscience

Por Krumm, Niklas, O’Roak, Brian J., Shendure, Jay, Eichler, Evan E.
Publicado em 2013

MIPgen: optimized modeling and design of molecular inversion probes for targeted resequencing

Por Boyle, Evan A., O’Roak, Brian J., Martin, Beth K., Kumar, Akash, Shendure, Jay
Publicado em 2014

Single molecule molecular inversion probes for targeted, high-accuracy detection of low-frequency variation

Por Hiatt, Joseph B., Pritchard, Colin C., Salipante, Stephen J., O'Roak, Brian J., Shendure, Jay
Publicado em 2013

A general framework for estimating the relative pathogenicity of human genetic variants

Por Kircher, Martin, Witten, Daniela M., Jain, Preti, O’Roak, Brian J., Cooper, Gregory M., Shendure, Jay
Publicado em 2014

Current Perspectives in Autism Spectrum Disorder: From Genes to Therapy

Por Chahrour, Maria, O'Roak, Brian J., Santini, Emanuela, Samaco, Rodney C., Kleiman, Robin J., Manzini, M. Chiara
Publicado no J Neurosci (2016)

Rapid and accurate large-scale genotyping of duplicated genes and discovery of novel sites of interlocus gene conversion

Por Nuttle, Xander, Huddleston, John, O'Roak, Brian J., Antonacci, Francesca, Fichera, Marco, Romano, Corrado, Shendure, Jay, Eichler, Evan E.
Publicado em 2013

Detection of structural variants and indels within exome data

Por Karakoc, Emre, Alkan, Can, O’Roak, Brian J., Dennis, Megan, Vives, Laura, Mark, Kenneth, Rieder, Mark J., Nickerson, Debbie A., Eichler, Evan E.
Publicado em 2011

Transmission Disequilibrium of Small CNVs in Simplex Autism

Por Krumm, Niklas, O’Roak, Brian J., Karakoc, Emre, Mohajeri, Kiana, Nelson, Ben, Vives, Laura, Jacquemont, Sebastien, Munson, Jeff, Bernier, Raphe, Eichler, Evan E.
Publicado em 2013

Copy number variation detection and genotyping from exome sequence data

Por Krumm, Niklas, Sudmant, Peter H., Ko, Arthur, O'Roak, Brian J., Malig, Maika, Coe, Bradley P., Quinlan, Aaron R., Nickerson, Deborah A., Eichler, Evan E.
Publicado em 2012

Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder

Por Krupp, Deidre R., Barnard, Rebecca A., Duffourd, Yannis, Evans, Sara A., Mulqueen, Ryan M., Bernier, Raphael, Rivière, Jean-Baptiste, Fombonne, Eric, O’Roak, Brian J.
Publicado no Am J Hum Genet (2017)

De novo TBR1 mutations in sporadic autism disrupt protein functions

Por Deriziotis, Pelagia, O’Roak, Brian J., Graham, Sarah A., Estruch, Sara B., Dimitropoulou, Danai, Bernier, Raphael A., Gerdts, Jennifer, Shendure, Jay, Eichler, Evan E., Fisher, Simon E.
Publicado em 2014

Rare independent mutations in renal salt handling genes contribute to blood pressure variation

Por Ji, Weizhen, Foo, Jia Nee, O'Roak, Brian J., Zhao, Hongyu, Larson, Martin G., Simon, David B., Newton-Cheh, Christopher, State, Matthew W., Levy, Daniel, Lifton, Richard P.
Publicado em 2008

Estimating human mutation rate using autozygosity in a founder population

Por Campbell, Catarina D., Chong, Jessica X., Malig, Maika, Ko, Arthur, Dumont, Beth L., Han, Lide, Vives, Laura, O’Roak, Brian J., Sudmant, Peter H., Shendure, Jay, Abney, Mark, Ober, Carole, Eichler, Evan E.
Publicado em 2012

Rare-Variant Extensions of the Transmission Disequilibrium Test: Application to Autism Exome Sequence Data

Por He, Zongxiao, O’Roak, Brian J., Smith, Joshua D., Wang, Gao, Hooker, Stanley, Santos-Cortez, Regie Lyn P., Li, Biao, Kan, Mengyuan, Krumm, Nik, Nickerson, Deborah A., Shendure, Jay, Eichler, Evan E., Leal, Suzanne M.
Publicado em 2014

Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies

Por Schueler, Markus, Halbritter, Jan, Phelps, Ian G., Braun, Daniela A., Otto, Edgar A., Porath, Jonathan D., Gee, Heon Yung, Shendure, Jay, O’Roak, Brian J., Lawson, Jennifer A., Soliman, Neveen A., Nabhan, Marwa M., Doherty, Dan, Hildebrandt, Friedhelm
Publicado no J Med Genet (2015)

Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

Por O’Roak, Brian J., Deriziotis, Pelagia, Lee, Choli, Vives, Laura, Schwartz, Jerrod J., Girirajan, Santhosh, Karakoc, Emre, MacKenzie, Alexandra P., Ng, Sarah B., Baker, Carl, Rieder, Mark J., Nickerson, Deborah A., Bernier, Raphael, Fisher, Simon E., Shendure, Jay, Eichler, Evan E.
Publicado em 2011

PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia

Por Jansen, Laura A., Mirzaa, Ghayda M., Ishak, Gisele E., O'Roak, Brian J., Hiatt, Joseph B., Roden, William H., Gunter, Sonya A., Christian, Susan L., Collins, Sarah, Adams, Carissa, Rivière, Jean-Baptiste, St-Onge, Judith, Ojemann, Jeffrey G., Shendure, Jay, Hevner, Robert F., Dobyns, William B.
Publicado no Brain (2015)

Molecular Cytogenetic Analysis and Resequencing of Contactin Associated Protein-Like 2 in Autism Spectrum Disorders

Por Bakkaloglu, Betul, O'Roak, Brian J., Louvi, Angeliki, Gupta, Abha R., Abelson, Jesse F., Morgan, Thomas M., Chawarska, Katarzyna, Klin, Ami, Ercan-Sencicek, A. Gulhan, Stillman, Althea A., Tanriover, Gamze, Abrahams, Brett S., Duvall, Jackie A., Robbins, Elissa M., Geschwind, Daniel H., Biederer, Thomas, Gunel, Murat, Lifton, Richard P., State, Matthew W.
Publicado em 2008

Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations

Por O’Roak, Brian J., Vives, Laura, Girirajan, Santhosh, Karakoc, Emre, Krumm, Nik, Coe, Bradley P., Levy, Roie, Ko, Arthur, Lee, Choli, Smith, Joshua D., Turner, Emily H., Stanaway, Ian B., Vernot, Benjamin, Malig, Maika, Baker, Carl, Reilly, Beau, Akey, Joshua M., Borenstein, Elhanan, Rieder, Mark J., Nickerson, Deborah A., Bernier, Raphael, Shendure, Jay, Eichler, Evan E.
Publicado em 2012