Resultados de procura - Krumm, Niklas

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

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

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A de novo convergence of autism genetics and molecular neuroscience por 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 por 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 por 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 por 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 por 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 por 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 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.

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denovo-db: a compendium of human de novo variants por 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 por 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 por 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 por 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 por 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 por 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 por 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 por 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 por 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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