Search Results - O’Roak, Brian J

A Saturation Mutagenesis Approach to Understanding PTEN Lipid Phosphatase Activity and Genotype-Phenotype Relationships by Mighell, Taylor L., Evans-Dutson, Sara, O’Roak, Brian J.

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A de novo convergence of autism genetics and molecular neuroscience by Krumm, Niklas, O’Roak, Brian J., Shendure, Jay, Eichler, Evan E.

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An Integrated Deep-Mutational-Scanning Approach Provides Clinical Insights on PTEN Genotype-Phenotype Relationships by Mighell, Taylor L., Thacker, Stetson, Fombonne, Eric, Eng, Charis, O’Roak, Brian J.

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MIPgen: optimized modeling and design of molecular inversion probes for targeted resequencing by Boyle, Evan A., O’Roak, Brian J., Martin, Beth K., Kumar, Akash, Shendure, Jay

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Single molecule molecular inversion probes for targeted, high-accuracy detection of low-frequency variation by Hiatt, Joseph B., Pritchard, Colin C., Salipante, Stephen J., O'Roak, Brian J., Shendure, Jay

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A general framework for estimating the relative pathogenicity of human genetic variants by Kircher, Martin, Witten, Daniela M., Jain, Preti, O’Roak, Brian J., Cooper, Gregory M., Shendure, Jay

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Current Perspectives in Autism Spectrum Disorder: From Genes to Therapy by Chahrour, Maria, O'Roak, Brian J., Santini, Emanuela, Samaco, Rodney C., Kleiman, Robin J., Manzini, M. Chiara

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Rapid and accurate large-scale genotyping of duplicated genes and discovery of novel sites of interlocus gene conversion by Nuttle, Xander, Huddleston, John, O'Roak, Brian J., Antonacci, Francesca, Fichera, Marco, Romano, Corrado, Shendure, Jay, Eichler, Evan E.

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Detection of structural variants and indels within exome data by Karakoc, Emre, Alkan, Can, O’Roak, Brian J., Dennis, Megan, Vives, Laura, Mark, Kenneth, Rieder, Mark J., Nickerson, Debbie A., Eichler, Evan E.

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Transmission Disequilibrium of Small CNVs in Simplex Autism by Krumm, Niklas, O’Roak, Brian J., Karakoc, Emre, Mohajeri, Kiana, Nelson, Ben, Vives, Laura, Jacquemont, Sebastien, Munson, Jeff, Bernier, Raphe, Eichler, Evan E.

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Copy number variation detection and genotyping from exome sequence data by 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.

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Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder by 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.

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De novo TBR1 mutations in sporadic autism disrupt protein functions by 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.

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

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High-content single-cell combinatorial indexing by Mulqueen, Ryan M., Pokholok, Dmitry, O’Connell, Brendan L., Thornton, Casey A., Zhang, Fan, O’Roak, Brian J., Link, Jason, Yardımcı, Galip Gürkan, Sears, Rosalie C., Steemers, Frank J., Adey, Andrew C.

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Estimating human mutation rate using autozygosity in a founder population by 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.

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Clinical phenotypes of carriers of mutations in CHD8 or its conserved target genes by Beighley, Jennifer S., Hudac, Caitlin M., Arnett, Anne B., Peterson, Jessica L., Gerdts, Jennifer, Wallace, Arianne S., Mefford, Heather C., Hoekzema, Kendra, Turner, Tychele N., O’Roak, Brian J., Eichler, Evan E., Bernier, Raphael A.

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Highly scalable generation of DNA methylation profiles in single cells by Mulqueen, Ryan M., Pokholok, Dmitry, Norberg, Steve, Torkenczy, Kristof A., Fields, Andrew J., Sun, Duanchen, Sinnamon, John R., Shendure, Jay, Trapnell, Cole, O’Roak, Brian J., Xia, Zheng, Steemers, Frank J., Adey, Andrew C.

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

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

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