Výsledky vyhledávání - Krumm, Niklas

Practical estimation of cloud storage costs for clinical genomic data Autor Krumm, Niklas, Hoffman, Noah

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Prioritization of neurodevelopmental disease genes by discovery of new mutations Autor Hoischen, Alexander, Krumm, Niklas, Eichler, Evan E.

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

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Genetic testing to resolve the source of haemolytic antibody in solid organ transplantation Autor Tsang, Hamilton C., Samraj, Annie N., Morse, Ryan J., Krumm, Niklas, Hess, John R., Pagano, Monica B.

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Response to Pembrolizumab in a Patient With Xeroderma Pigmentosum and Advanced Squamous Cell Carcinoma Autor Steineck, Angela, Krumm, Niklas, Sarthy, Jay F., Pritchard, Colin C., Chapman, Teresa, Stacey, Andrew W., Vitanza, Nicholas A., Cole, Bonnie

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A Higher Mutational Burden in Females Supports a “Female Protective Model” in Neurodevelopmental Disorders Autor Jacquemont, Sébastien, Coe, Bradley P., Hersch, Micha, Duyzend, Michael H., Krumm, Niklas, Bergmann, Sven, Beckmann, Jacques S., Rosenfeld, Jill A., Eichler, Evan E.

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Allele-specific transcriptional elongation regulates monoallelic expression of the IGF2BP1 gene Autor Thomas, Brandon J, Rubio, Eric D, Krumm, Niklas, Broin, Pilib Ó, Bomsztyk, Karol, Welcsh, Piri, Greally, John M, Golden, Aaron A, Krumm, Anton

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Transmission Disequilibrium of Small CNVs in Simplex Autism Autor 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 Autor 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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denovo-db: a compendium of human de novo variants Autor Turner, Tychele N., Yi, Qian, Krumm, Niklas, Huddleston, John, Hoekzema, Kendra, F. Stessman, Holly A., Doebley, Anna-Lisa, Bernier, Raphael A., Nickerson, Deborah A., Eichler, Evan E.

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Exome Sequencing and Genome-Wide Linkage Analysis in 17 Families Illustrates the Complex Contribution of TTN Truncating Variants to Dilated Cardiomyopathy Autor Norton, Nadine, Li, Duanxiang, Rampersaud, Evadnie, Morales, Ana, Martin, Eden R., Zuchner, Stephan, Guo, Shengru, Gonzalez, Michael, Hedges, Dale J., Robertson, Peggy D., Krumm, Niklas, Nickerson, Deborah A., Hershberger, Ray E.

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Excess of rare, inherited truncating mutations in autism Autor Krumm, Niklas, Turner, Tychele N., Baker, Carl, Vives, Laura, Mohajeri, Kiana, Witherspoon, Kali, Raja, Archana, Coe, Bradley P., Stessman, Holly A., He, Zong-Xiao, Leal, Suzanne M., Bernier, Raphael, Eichler, Evan E.

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Formation of Chimeric Genes by Copy-Number Variation as a Mutational Mechanism in Schizophrenia Autor Rippey, Caitlin, Walsh, Tom, Gulsuner, Suleyman, Brodsky, Matt, Nord, Alex S., Gasperini, Molly, Pierce, Sarah, Spurrell, Cailyn, Coe, Bradley P., Krumm, Niklas, Lee, Ming K., Sebat, Jonathan, McClellan, Jon M., King, Mary-Claire

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Molecular Genetic Anatomy and Risk Profile of Hirschsprung’s Disease Autor Tilghman, Joseph M., Ling, Albee Y., Turner, Tychele N., Sosa, Maria X., Krumm, Niklas, Chatterjee, Sumantra, Kapoor, Ashish, Coe, Bradley P., Nguyen, Khanh-Dung H., Gupta, Namrata, Gabriel, Stacey, Eichler, Evan E., Berrios, Courtney, Chakravarti, Aravinda

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Multiplex Targeted Sequencing Identifies Recurrently Mutated Genes in Autism Spectrum Disorders Autor O’Roak, Brian J., Vives, Laura, Fu, Wenqing, Egertson, Jarrett D., Stanaway, Ian B., Phelps, Ian G., Carvill, Gemma, Kumar, Akash, Lee, Choli, Ankenman, Katy, Munson, Jeff, Hiatt, Joseph B., Turner, Emily H., Levy, Roie, O’Day, Diana R., Krumm, Niklas, Coe, Bradley P., Martin, Beth K., Borenstein, Elhanan, Nickerson, Deborah A., Mefford, Heather C., Doherty, Dan, Akey, Joshua M., Bernier, Raphael, Eichler, Evan E., Shendure, Jay

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Whole-Genome Sequencing of Individuals from a Founder Population Identifies Candidate Genes for Asthma Autor Campbell, Catarina D., Mohajeri, Kiana, Malig, Maika, Hormozdiari, Fereydoun, Nelson, Benjamin, Du, Gaixin, Patterson, Kristen M., Eng, Celeste, Torgerson, Dara G., Hu, Donglei, Herman, Catherine, Chong, Jessica X., Ko, Arthur, O'Roak, Brian J., Krumm, Niklas, Vives, Laura, Lee, Choli, Roth, Lindsey A., Rodriguez-Cintron, William, Rodriguez-Santana, Jose, Brigino-Buenaventura, Emerita, Davis, Adam, Meade, Kelley, LeNoir, Michael A., Thyne, Shannon, Jackson, Daniel J., Gern, James E., Lemanske, Robert F., Shendure, Jay, Abney, Mark, Burchard, Esteban G., Ober, Carole, Eichler, Evan E.

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The contribution of de novo coding mutations to autism spectrum disorder Autor Iossifov, Ivan, O’Roak, Brian J., Sanders, Stephan J., Ronemus, Michael, Krumm, Niklas, Levy, Dan, Stessman, Holly A., Witherspoon, Kali, Vives, Laura, Patterson, Karynne E., Smith, Joshua D., Paeper, Bryan, Nickerson, Deborah A., Dea, Jeanselle, Dong, Shan, Gonzalez, Luis E., Mandell, Jefferey D., Mane, Shrikant M., Murtha, Michael T., Sullivan, Catherine A., Walker, Michael F., Waqar, Zainulabedin, Wei, Liping, Willsey, A. Jeremy, Yamrom, Boris, Lee, Yoon-ha, Grabowska, Ewa, Dalkic, Ertugrul, Wang, Zihua, Marks, Steven, Andrews, Peter, Leotta, Anthony, Kendall, Jude, Hakker, Inessa, Rosenbaum, Julie, Ma, Beicong, Rodgers, Linda, Troge, Jennifer, Narzisi, Giuseppe, Yoon, Seungtai, Schatz, Michael C., Ye, Kenny, McCombie, W. Richard, Shendure, Jay, Eichler, Evan E., State, Matthew W., Wigler, Michael

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Global diversity, population stratification, and selection of human copy number variation Autor Sudmant, Peter H., Mallick, Swapan, Nelson, Bradley J., Hormozdiari, Fereydoun, Krumm, Niklas, Huddleston, John, Coe, Bradley P., Baker, Carl, Nordenfelt, Susanne, Bamshad, Michael, Jorde, Lynn B., Posukh, Olga L., Sahakyan, Hovhannes, Watkins, W. Scott, Yepiskoposyan, Levon, Abdullah, M. Syafiq, Bravi, Claudio M., Capelli, Cristian, Hervig, Tor, Wee, Joseph T. S., Tyler-Smith, Chris, van Driem, George, Romero, Irene Gallego, Jha, Aashish R., Karachanak-Yankova, Sena, Toncheva, Draga, Comas, David, Henn, Brenna, Kivisild, Toomas, Ruiz-Linares, Andres, Sajantila, Antti, Metspalu, Ene, Parik, Jüri, Villems, Richard, Starikovskaya, Elena B., Ayodo, George, Beall, Cynthia M., Di Rienzo, Anna, Hammer, Michael, Khusainova, Rita, Khusnutdinova, Elza, Klitz, William, Winkler, Cheryl, Labuda, Damian, Metspalu, Mait, Tishkoff, Sarah A., Dryomov, Stanislav, Sukernik, Rem, Patterson, Nick, Reich, David, Eichler, Evan E.

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