Whole-exome sequencing broadens the phenotypic spectrum of rare pediatric epilepsy: a retrospective study by Dyment, D.A., Tétreault, M., Beaulieu, C.L., Hartley, T., Ferreira, P., Chardon, J.W., Marcadier, J., Sawyer, S.L., Mosca, S.J., Innes, A.M., Parboosingh, J.S., Bulman, D.E., Schwartzentruber, J., Majewski, J., Tarnopolsky, M., Boycott, K.M.

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Estimating the effect of non-pharmaceutical interventions on US SARS-CoV-2 infections in the first year of the pandemic by Duncan, N A, L'Her, G F, Osborne, A G, Sawyer, S L, Deinert, M R

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Species-Specific Features of DARC, the Primate Receptor for Plasmodium vivax and Plasmodium knowlesi by Demogines, Ann, Truong, Kimberly A., Sawyer, Sara L.

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Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: toward recommendation for molecular testing and management by Avila, M., Dyment, D.A., Sagen, J.V., St-Onge, J., Moog, U., Chung, B.H.Y., Mo, S., Mansour, S., Albanese, A., Garcia, S., Martin, D.O., Lopez, A.A., Claudi, T., König, R., White, S.M., Sawyer, S.L., Bernstein, J.A., Slattery, L., Jobling, R.K., Yoon, G., Curry, C.J., Merrer, M.L., Luyer, B.L., Héron, D., Mathieu-Dramard, M., Bitoun, P., Odent, S., Amiel, J., Kuentz, P., Thevenon, J., Laville, M., Reznik, Y., Fagour, C., Nunes, M.-L., Delesalle, D., Manouvrier, S., Lascols, O., Huet, F., Binquet, C., Faivre, L., Rivière, J.-B., Vigouroux, C., Njølstad, P.R., Innes, A.M., Thauvin-Robinet, C.

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A ZPR1 mutation is associated with a novel syndrome of growth restriction, distinct craniofacial features, alopecia, and hypoplastic kidneys by Ito, Y.A., Smith, A.C., Kernohan, K.D., Pena, I.A., Ahmed, A., McDonell, L.M., Beaulieu, C., Bulman, D.E., Smidt, A., Sawyer, S.L., Dyment, D.A., Boycott, K.M., Clericuzio, C.L.

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Using family history forms in pediatric oncology to identify patients for genetic assessment by Hamilton, A, Smith, E, Hamon, J, Tomiak, E, Bassal, M, Sawyer, S L

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High-Frequency Persistence of an Impaired Allele of the Retroviral Defense Gene TRIM5α in Humans by Sawyer, Sara L., Wu, Lily I., Akey, Joshua M., Emerman, Michael, Malik, Harmit S.

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Neutralization sensitivity of human immunodeficiency virus type 1 is determined in part by the cell in which the virus is propagated by SAWYER, L. S. W, WRIN, M. T, CRAWFORD-MIKSZA, L, POTTS, B, YAMING WU, WEBER, P. A, ALFONSO, R. D, HANSON, C. V

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Mcm10 and Cdc45 Cooperate in Origin Activation in Saccharomyces cerevisiae by Sawyer, Sara L, Cheng, Irene H, Chai, Weihang, Tye, Bik K

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Efficient Neutralization of Primary Isolates of HIV-1 by a Recombinant Human Monoclonal Antibody by Burton, Dennis R., Pyati, Jayashree, Koduri, Raju, Sharp, Stephen J., Thornton, George B., Paul W. H. I. Parren, Lynette S. W. Sawyer, Hendry, R. Michael, Dunlop, Nancy, Nara, Peter L., Lamacchia, Michael, Garratty, Eileen, Stiehm, E. Richard, Bryson, Yvonne J., Cao, Yunzhen, Moore, John P., Ho, David D., Barbas, Carlos F.

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SNP association studies in Alzheimer's disease highlight problems for complex disease analysis by Emahazion, Tesfai, Feuk, Lars, Jobs, Magnus, Sawyer, Sarah L., Fredman, David, St Clair, David, Prince, Jonathan A., Brookes, Anthony J.

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Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care by Sawyer, S.L., Hartley, T., Dyment, D.A., Beaulieu, C.L., Schwartzentruber, J., Smith, A., Bedford, H.M., Bernard, G., Bernier, F.P., Brais, B., Bulman, D.E., Warman Chardon, J., Chitayat, D., Deladoëy, J., Fernandez, B.A., Frosk, P., Geraghty, M.T., Gerull, B., Gibson, W., Gow, R.M., Graham, G.E., Green, J.S., Heon, E., Horvath, G., Innes, A.M., Jabado, N., Kim, R.H., Koenekoop, R.K., Khan, A., Lehmann, O.J., Mendoza-Londono, R., Michaud, J.L., Nikkel, S.M., Penney, L.S., Polychronakos, C., Richer, J., Rouleau, G.A., Samuels, M.E., Siu, V.M., Suchowersky, O., Tarnopolsky, M.A., Yoon, G., Zahir, F.R., Majewski, J., Boycott, K.M.

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An expanded clade of rodent Trim5 genes by Tareen, Semih U, Sawyer, Sara L, Malik, Harmit S, Emerman, Michael

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Ancient adaptive evolution of the primate antiviral DNA-editing enzyme APOBEC3G by Sawyer, Sara L, Emerman, Michael, Malik, Harmit S

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Positive Selection of Primate TRIM5α Identifies a Critical Species-Specific Retroviral Restriction Domain by Sawyer, Sara L., Wu, Lily I., Emerman, Michael, Malik, Harmit S., Groudine, Mark T.

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SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females by Radio, Francesca Clementina, Ciolfi, Andrea, Levy, Michael A., Hernández-García, Andrés, Pedace, Lucia, Pantaleoni, Francesca, Liu, Zhandong, de Boer, Elke, Jackson, Adam, Bruselles, Alessandro, McConkey, Haley, Stellacci, Emilia, Lo Cicero, Stefania, Motta, Marialetizia, Carrozzo, Rosalba, McWalter, Kirsty, Desai, Megha, Monaghan, Kristin G., Telegrafi, Aida, Philippe, Christophe, Vitobello, Antonio, Au, Margaret, Grand, Katheryn, Baez, Joanne, Lindstrom, Kristin, Kulch, Peggy, Sebastian, Jessica, Madan-Khetarpal, Suneeta, Roadhouse, Chelsea, MacKenzie, Jennifer J., Monteleone, Berrin, Saunders, Carol J., Jean Cuevas, July K., Zhou, Dihong, Sawyer, Sarah L., Monteiro, Fabíola Paoli, Secches, Tania Vertemati, Kok, Fernando, Schultz-Rogers, Laura E., Morava, Eva, Klee, Eric W., Kemppainen, Jennifer, Iascone, Maria, Selicorni, Angelo, Tenconi, Romano, Pais, Lynn, Gallacher, Lyndon, Turnpenny, Peter D., Stals, Karen, Ellard, Sian, Cabet, Sara, Lesca, Gaetan, Pascal, Joset, Steindl, Katharina, Weiss, Karin, Carter, Melissa T., Kalsner, Louisa, de Vries, Bert B.A., van Bon, Bregje W., Wevers, Marijke R., Pfundt, Rolph, Stegmann, Alexander P.A., Kerr, Bronwyn, Chandler, Kate E., Sheehan, Willow, Elias, Abdallah F., Shinde, Deepali N., Towne, Meghan C., Robin, Nathaniel H., Goodloe, Dana, Vanderver, Adeline, Sherbini, Omar, Bluske, Krista, Faletra, Flavio, Musante, Luciana, Kurtz-Nelson, Evangeline C., Earl, Rachel K., Anderlid, Britt-Marie, Morin, Gilles, van Slegtenhorst, Marjon, Diderich, Karin E.M., Brooks, Alice S., Gribnau, Joost, Boers, Ruben G., Finestra, Teresa Robert, Carter, Lauren B., Rauch, Anita, Gasparini, Paolo, Boycott, Kym M., Barakat, Tahsin Stefan, Graham, John M., Faivre, Laurence, Banka, Siddharth, Wang, Tianyun, Eichler, Evan E., Dallapiccola, Bruno, Vissers, Lisenka E.L.M., Sadikovic, Bekim, Holder, Jimmy Lloyd, Tartaglia, Marco

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An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge by Brownstein, Catherine A, Beggs, Alan H, Homer, Nils, Merriman, Barry, Yu, Timothy W, Flannery, Katherine C, DeChene, Elizabeth T, Towne, Meghan C, Savage, Sarah K, Price, Emily N, Holm, Ingrid A, Luquette, Lovelace J, Lyon, Elaine, Majzoub, Joseph, Neupert, Peter, McCallie, Jr, David, Szolovits, Peter, Willard, Huntington F, Mendelsohn, Nancy J, Temme, Renee, Finkel, Richard S, Yum, Sabrina W, Medne, Livija, Sunyaev, Shamil R, Adzhubey, Ivan, Cassa, Christopher A, de Bakker, Paul I W, Duzkale, Hatice, Dworzyński, Piotr, Fairbrother, William, Francioli, Laurent, Funke, Birgit H, Giovanni, Monica A, Handsaker, Robert E, Lage, Kasper, Lebo, Matthew S, Lek, Monkol, Leshchiner, Ignaty, MacArthur, Daniel G, McLaughlin, Heather M, Murray, Michael F, Pers, Tune H, Polak, Paz P, Raychaudhuri, Soumya, Rehm, Heidi L, Soemedi, Rachel, Stitziel, Nathan O, Vestecka, Sara, Supper, Jochen, Gugenmus, Claudia, Klocke, Bernward, Hahn, Alexander, Schubach, Max, Menzel, Mortiz, Biskup, Saskia, Freisinger, Peter, Deng, Mario, Braun, Martin, Perner, Sven, Smith, Richard J H, Andorf, Janeen L, Huang, Jian, Ryckman, Kelli, Sheffield, Val C, Stone, Edwin M, Bair, Thomas, Black-Ziegelbein, E Ann, Braun, Terry A, Darbro, Benjamin, DeLuca, Adam P, Kolbe, Diana L, Scheetz, Todd E, Shearer, Aiden E, Sompallae, Rama, Wang, Kai, Bassuk, Alexander G, Edens, Erik, Mathews, Katherine, Moore, Steven A, Shchelochkov, Oleg A, Trapane, Pamela, Bossler, Aaron, Campbell, Colleen A, Heusel, Jonathan W, Kwitek, Anne, Maga, Tara, Panzer, Karin, Wassink, Thomas, Van Daele, Douglas, Azaiez, Hela, Booth, Kevin, Meyer, Nic, Segal, Michael M, Williams, Marc S, Tromp, Gerard, White, Peter, Corsmeier, Donald, Fitzgerald-Butt, Sara, Herman, Gail, Lamb-Thrush, Devon

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Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome by Dyment, David A., O'Donnell‐Luria, Anne, Agrawal, Pankaj B., Coban Akdemir, Zeynep, Aleck, Kyrieckos A., Antaki, Danny, Al Sharhan, Hind, Au, Ping‐Yee B., Aydin, Hatip, Beggs, Alan H., Bilguvar, Kaya, Boerwinkle, Eric, Brand, Harrison, Brownstein, Catherine A., Buyske, Steve, Chodirker, Bernard, Choi, Jungmin, Chudley, Albert E., Clericuzio, Carol L., Cox, Gerald F., Curry, Cynthia, Boer, Elke, Vries, Bert B. A., Dunn, Kathryn, Dutmer, Cullen M., England, Eleina M., Fahrner, Jill A., Geckinli, Bilgen B., Genetti, Casie A., Gezdirici, Alper, Gibson, William T., Gleeson, Joseph G., Greenberg, Cheryl R., Hall, April, Hamosh, Ada, Hartley, Taila, Jhangiani, Shalini N., Karaca, Ender, Kernohan, Kristin, Lauzon, Julie L., Lewis, M. E. Suzanne, Lowry, R. Brian, López‐Giráldez, Francesc, Matise, Tara C., McEvoy‐Venneri, Jennifer, McInnes, Brenda, Mhanni, Aziz, Garcia Minaur, Sixto, Moilanen, Jukka, Nguyen, An, Nowaczyk, Malgorzata J. M., Posey, Jennifer E., Õunap, Katrin, Pehlivan, Davut, Pajusalu, Sander, Penney, Lynette S., Poterba, Timothy, Prontera, Paolo, Doriqui, Maria Juliana Rodovalho, Sawyer, Sarah L., Sobreira, Nara, Stanley, Valentina, Torun, Deniz, Wargowski, David, Witmer, P. Dane, Wong, Isaac, Xing, Jinchuan, Zaki, Maha S., Zhang, Yeting, Boycott, Kym M., Bamshad, Michael J., Nickerson, Deborah A., Blue, Elizabeth E., Innes, A. Micheil

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SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females by Radio, FC, Pang, KF, Ciolfi, A, Levy, MA, Pedace, L, de Boer, E, Jackson, A, Stellacci, E, Lo Cicero, S, Dentici, ML, McWalter, K, Sanchez-Lara, PA, Lindstrom, K, Madan-Khetarpal, S, MacKenzie, JJ, Monteleone, B, Zhou, DH, Sawyer, SL, Monteiro, FP, Macke, EL, Iascone, M, Selicorni, A, Tenconi, R, Amor, DJ, Stals, K, Cabet, S, Steindl, K, Weiss, K, Castle, AMR, Kalsner, L, Chandler, KE, Sheehan, W, Shinde, DN, Goodloe, D, Bluske, K, Faletra, F, Kurtz-Nelson, EC, Anderlid, BM, Barakat, TS, Graham, JM, Faivre, L, Banka, S, Wang, TY, Priolo, M, Dallapiccola, B, Vissers, LELM, Sadikovic, B, Scott, DA, Holder, JL, Tartaglia, M

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Postexposure Immunoprophylaxis of Primary Isolates by an Antibody to HIV Receptor Complex by Wang, Chang Yi, Lynette S. W. Sawyer, Murthy, Krishna K., Fang, Xinde, Walfield, Alan M., Ye, John, James J. G. Wang, De Chen, Pei, Li, Ming Lie, Salas, Mary T., Shen, Ming, Gauduin, Marie-Claire, Boyle, Rosanne W., Koup, Richard A., Montefiori, David C., Mascola, John R., Koff, Wayne C., Hanson, Carl V.

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