Items where Subject is "de novo mutation"

B

Bekritsky, M. (August 2014) Detecting de novo microsatellite mutations in a population of families with sporadic autism. PhD thesis, Cold Spring Harbor Laboratory.

Breuss, M. W., Antaki, D., George, R. D., Kleiber, M., James, K. N., Ball, L. L., Hong, O., Mitra, I., Yang, X., Wirth, S. A., Gu, J., Garcia, C. A. B., Gujral, M., Brandler, W. M., Musaev, D., Nguyen, A., McEvoy-Venneri, J., Knox, R., Sticca, E., Botello, M. C. C., Uribe Fenner, J., Perez, M. C., Arranz, M., Moffitt, A. B., Wang, Z., Hervas, A., Devinsky, O., Gymrek, M., Sebat, J., Gleeson, J. G. (December 2019) Autism risk in offspring can be assessed through quantification of male sperm mosaicism. Nat Med, 26 (1). pp. 143-150. ISSN 1078-8956

Buja, A., Volfovsky, N., Krieger, A. M., Lord, C., Lash, A. E., Wigler, M., Iossifov, I. (February 2018) Damaging de novo mutations diminish motor skills in children on the autism spectrum. Proc Natl Acad Sci U S A, 115 (8). E1859-E1866. ISSN 0027-8424

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Dukler, Noah, Mughal, Mehreen, Ramani, Ritika, Huang, Yi-Fei, Siepel, Adam (September 2021) Extreme purifying selection against point mutations in the human genome. BioRxiv. (Unpublished)

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Glessner, J. T., Bick, A. G., Ito, K., Homsy, J. G., Rodriguez-Murillo, L., Fromer, M., Mazaika, E., Vardarajan, B., Italia, M., Leipzig, J., DePalma, S. R., Golhar, R., Sanders, S. J., Yamrom, B., Ronemus, M., Iossifov, I., Willsey, A. J., State, M. W., Kaltman, J. R., White, P. S., Shen, Y., Warburton, D., Brueckner, M., Seidman, C., Goldmuntz, E., Gelb, B. D., Lifton, R., Seidman, J., Hakonarson, H., Chung, W. K. (October 2014) Increased frequency of de novo copy number variants in congenital heart disease by integrative analysis of single nucleotide polymorphism array and exome sequence data. Circulation Research, 115 (10). pp. 884-96. ISSN 0009-7330

Gomez-Romero, L., Palacios-Flores, K., Reyes, J., Garcia, D., Boege, M., Davila, G., Flores, M., Schatz, M. C., Palacios, R. (May 2018) Precise detection of de novo single nucleotide variants in human genomes. Proc Natl Acad Sci U S A, 115 (21). pp. 5516-5521. ISSN 0027-8424

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Homsy, J., Zaidi, S., Shen, Y., Ware, J. S., Samocha, K. E., Karczewski, K. J., DePalma, S. R., McKean, D., Wakimoto, H., Gorham, J., Jin, S. C., Deanfield, J., Giardini, A., Porter G.A, Jr., Kim, R., Bilguvar, K., López-Giráldez, F., Tikhonova, I., Mane, S., Romano-Adesman, A., Qi, H., Vardarajan, B., Ma, L., Daly, M., Roberts, A. E., Russell, M. W., Mital, S., Newburger, J. W., Gaynor, J. W., Breitbart, R. E., Iossifov, I., Ronemus, M., Sanders, S. J., Kaltman, J. R., Seidman, J. G., Brueckner, M., Gelb, B. D., Goldmuntz, E., Lifton, R. P., Seidman, C. E., Chung, W. K. (December 2015) De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies. Science, 350 (6265). pp. 1262-1266. ISSN 00368075

Hu, Yixin, Stillman, Bruce (January 2023) Origins of DNA replication in eukaryotes. Molecular Cell. S1097-2765(22)01203. ISSN 1097-2765

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Iossifov, I., O'Roak, B. J., Sanders, S. J., Ronemus, M., Krumm, N., Levy, D., Stessman, H. A., Witherspoon, K. T., Vives, L., Patterson, K. E., Smith, J. D., Paeper, B., Nickerson, D. A., Dea, J., Dong, S., Gonzalez, L. E., Mandell, J. D., Mane, S. M., Murtha, M. T., Sullivan, C. A., Walker, M. F., Waqar, Z., Wei, L., Willsey, A. J., Yamrom, B., Lee, Y. H., Grabowska, E., Dalkic, E., Wang, Z., Marks, S., Andrews, P., Leotta, A., Kendall, J., Hakker, I., Rosenbaum, J., Ma, B., Rodgers, L., Troge, J., Narzisi, G., Yoon, S., Schatz, M. C., Ye, K., McCombie, W. R., Shendure, J., Eichler, E. E., State, M. W., Wigler, M. (November 2014) The contribution of de novo coding mutations to autism spectrum disorder. Nature, 515 (7526). pp. 216-221. ISSN 0028-0836

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Malcolmson, J., Kleyner, R., Tegay, D., Adams, W., Ward, K., Coppinger, J., Nelson, L., Meisler, M. H., Wang, K., Robison, R., Lyon, G. J. (November 2016) SCN8A mutation in a child presenting with seizures and developmental delays. Cold Spring Harb Mol Case Stud, 2 (6). a001073. ISSN 2373-2873

McCarthy, S. E., Gillis, J., Kramer, M., Lihm, J., Yoon, S., Berstein, Y., Mistry, M., Pavlidis, P., Solomon, R., Ghiban, E., Antoniou, E., Kelleher, E., O'Brien, C., Donohoe, G., Gill, M., Morris, D. W., McCombie, W. R., Corvin, A. (June 2014) De novo mutations in schizophrenia implicate chromatin remodeling and support a genetic overlap with autism and intellectual disability. Molecular Psychiatry, 19 (6). pp. 652-658. ISSN 14765578

Mukhopadhyay, Swagatam, Wigler, Michael, Levy, Dan (March 2015) Simple genetic models for autism spectrum disorder. bioRxiv. 017301.

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Noyes, Michelle D, Harvey, William T, Porubsky, David, Sulovari, Arvis, Li, Ruiyang, Rose, Nicholas R, Audano, Peter A, Munson, Katherine M, Lewis, Alexandra P, Hoekzema, Kendra, Mantere, Tuomo, Graves-Lindsay, Tina A, Sanders, Ashley D, Goodwin, Sara, Kramer, Melissa, Mokrab, Younes, Zody, Michael C, Hoischen, Alexander, Korbel, Jan O, McCombie, W Richard, Eichler, Evan E (March 2022) Familial long-read sequencing increases yield of de novo mutations. American Journal of Human Genetics. ISSN 0002-9297

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Willsey, A. J., Fernandez, T. V., Yu, D., King, R. A., Dietrich, A., Xing, J., Sanders, S. J., Mandell, J. D., Huang, A. Y., Richer, P., Smith, L., Dong, S., Samocha, K. E., Neale, B. M., Coppola, G., Mathews, C. A., Tischfield, J. A., Scharf, J. M., State, M. W., Heiman, G. A. (May 2017) De Novo Coding Variants Are Strongly Associated with Tourette Disorder. Neuron, 94 (3). 486-499.e9. ISSN 0896-6273

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Yoon, Seungtai, Munoz, Adriana, Yamrom, Boris, Lee, Yoon-Ha, Andrews, Peter, Marks, Steven, Wang, Zihua, Reeves, Catherine, Winterkorn, Lara, Krieger, Abba M, Buja, Andreas, Pradhan, Kith, Ronemus, Michael, Baldwin, Kristin K, Levy, Dan, Wigler, Michael, Iossifov, Ivan (September 2021) Rates of contributory de novo mutation in high and low-risk autism families. Communications Biology, 4 (1). p. 1026. ISSN 2399-3642