Søgeresultater - Krumm, Niklas

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

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

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