نتائج البحث - Krumm, Niklas

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

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

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

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

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

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

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

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

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

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

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

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

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

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

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

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

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

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

denovo-db: a compendium of human de novo variants حسب 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.

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

Exome Sequencing and Genome-Wide Linkage Analysis in 17 Families Illustrates the Complex Contribution of TTN Truncating Variants to Dilated Cardiomyopathy حسب 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.

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

Excess of rare, inherited truncating mutations in autism حسب 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.

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

Formation of Chimeric Genes by Copy-Number Variation as a Mutational Mechanism in Schizophrenia حسب 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

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

Molecular Genetic Anatomy and Risk Profile of Hirschsprung’s Disease حسب 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

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

Multiplex Targeted Sequencing Identifies Recurrently Mutated Genes in Autism Spectrum Disorders حسب 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

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

Whole-Genome Sequencing of Individuals from a Founder Population Identifies Candidate Genes for Asthma حسب 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.

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

The contribution of de novo coding mutations to autism spectrum disorder حسب 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

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

Global diversity, population stratification, and selection of human copy number variation حسب 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.

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل