检索结果 - O’Roak, Brian J

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

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A de novo convergence of autism genetics and molecular neuroscience 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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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