Results 91 to 100 of about 97,288 (294)
Complementarity of Long‐Reads and Optical Mapping in Parkinson's Disease for Structural Variants
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective
Long‐read sequencing and optical genome mapping technologies have the ability to detect large and complex structural variants. This has led to the discovery of novel pathogenic variants in neurodegenerative movement disorders. Thus, we aimed to systematically compare the SV detection capabilities of OGM and ONT in Parkinson's disease.André Fienemann, Theresa Lüth, Susen Schaake, Carolin Gabbert, Marius Möller, Hauke Busch, Katja Lohmann, Jonas A. Gustafson, Danny E. Miller, Kensuke Daida, Manabu Funayama, Nobutaka Hattori, Samia Ben Sassi, Faycel Hentati, Matthew J. Farrer, Kristian K. Ullrich, Christine Klein, Joanne Trinh +17 morewiley +1 more sourceGenome sequence of the pea aphid Acyrthosiphon pisum [PDF]
, 2010 Aphids are important agricultural pests and also biological models for studies of insect-plant interactions, symbiosis, virus vectoring, and the developmental causes of extreme phenotypic plasticity.Fenton, Brian, Schneider, M., Nazareth, LV, Smagghe, G., Eisen, Jonathan A., Hilgarth, RS, Hlavina, W., Gordon, K., Christiaens, Olivier, Moen, C., Jiang, H., Williamson, Michael, Vellozo, A, Altincicek, B, Gilbert, Don, Cortes, T, Wright, Rita A., Bickel, Ryan D, Aguilar, J, Wilson, Alex CC, Dang, P.M., Davis, G.K., Brault, V, Hilgarth, Roland S., Lu, Hsiao-Ling, Patel, BM, Vilcinskas, A, Parker, Ben J., Gerardo, Nicole M, Chacko, Joseph, The International Aphid Genomics Consortium, Duncan, Elizabeth J, Evans, J, Davies, T. G. E., Chen, H.-C., Fitzroy, Carol I. J., Monsion, Baptiste, Seah, S., Butts, Thomas, Anselme, C, Hurwitz, B., Robertson, Hugh M, Wilson, Megan, Pechuan, X., Rahbe, Yvan, Dombrovsky, A., Cass, Bodil, Pérez-Brocal, V., Carolan, J.C., Miyagishima, S-Y, Ollivier, M., Leonardo, Teresa, Wilson, M, Jones, D.H., Futami, R, Kushlan, P.F., Zhang, Jingkun, Gabisi, R.A., Douglas, AE, Price, D.R.G., Lu, H.-L., Gatehouse, John A., Price, Daniel R.G., Hauser, F, Ortiz-Rivas, Benjamin, Richards, S, He, X-L, Collin, O., Chandrabose, Mimi N, Thibaud-Nissen, Françoise Françoise, Futami, R., Chen, H-C, Pechuan, X, et al., Joshi, V, Tamborindeguy, Cecilia, Kamins, A, Ollivier, Morgane, Smith, J., Kiryutin, B, Collin, Olivier, Atsushi, Nakabachi, Huerta-Cepas, Jaime, Dinh, HH, Schwartz, Julia, Kaloshian, I., Ishikawa, Asano, Sattelle, D., Smagghe, G, Vieira, Filipe G, Dang, Phat M., van der Zee, Maurijn, Gilbert, D, Veenstra, Jan A., Fowler, Gerald R, Ermolaeva, O., Lee, SL, Tamames, J., Walsh, T.K., de Vos, Martin, Evans, Jay, Legeai, F, Ashton, Peter D., Gabisi, RA, Hlavina, W, Moen, Charles, Hunnicutt, L., Jaubert-Possamai, S, Kamins, A., Barribeau, Seth M., Hedges, D, Heckel, David G., Lozado, Ryan J, Liu, Y-S, Diaz, J, Nikoh, N, Singh, K, Zhou, J-J, Hilgarth, R.S., Wilson, Alexandra, Souvorov, Alexandre, Hume, J, Tamarit, Daniel,, Stafflinger, E, Colella, S., Stanke, M, Huerta-Cepas, J., Consortium, The International Aphid Genomics, Davies, TG Emyr, Wilson, ACC, Huerta-Cepas, J, Williams Jr., R.L., Kosarev, P., Miyagishima, Shin-ya, Nakabachi, A., Christiaens, O, Rispe, C., Singh, Karam, Davies, TGE, Lewis, Lora R., Dinh, H.H., Camara, F, Schwartz, J., Barribeau, S.M., Ishikawa, A, Gauthier, Jean Pierre, Caillaud, Marina, Ren, Q., Rozas, Julio, Muzny, D, Cass, B, Monsion, B, Parker, BJ, Mariotti, M., Leonardo, T., Douglas, Angela, Muzny, Donna, Srinivasan, Dayalan, Gerardo, NM, Reeck, Gerald R, Sagot, MF, Campbell, Peter, Jaubert-Possamai, S., Hunnicutt, Laura, Hitchens, Matthew E, Kamphuis, Lars G., Miura, T, Wilson, Alex C. C., Davis, Gregory K., Gabaldon, Toni, Ermolaeva, O, Vattathil, Selina, Davies, T G Emyr, Joshi, V., Ju, Ho-Jong, Field, Linda M, Schneider, Martina, Carolan, James C, Price, Daniel RG, Cortes, Teresa, Reardon, Karen T., Brisson, J.A., Morioka, M., Velarde, R., Williamson, Martin S, Moya, A., Charles, Hubert, Moya, A, Kapustin, Yuri, Pruitt, K., Heckel, David G, Santibanez, Jireh, Field, Linda M., Fowler, GR, Lee, Sandra L., Chacko, J, Chandrabose, M.N., Huybrechts, Jurgen, Hansen, Karina K, Robertson, HM, Parker, Ben J, Fitzroy, Carol I.J., Zhou, Jing-Jiang, Jr, WRL, Vincent-Monegat, Carole, Miura, T., Câmara, F., Smith, James, Macdonald, S., Heckel, D.G., Muzny, D., Cree, A, Iga, M, Chacko, J., Hunter, W, Cree, Andy, Jiang, H, Wilkinson, T.L., Gauthier, Jean-Pierre, Pechuan, Ximo, Kudo, Toshiaki, Grimmelikhuijzen, C.J.P., Morioka, M, Robertson, H.M., Kamphuis, L.G., Morioka, Mizue, Thomas, G., Tagu, Denis, Hitchens, Matthew E., Degnan, P, Van Der Zee, M., Barribeau, Seth M, Kaloshian, Isgouhi, Atamian, H., Gatehouse, John A, Stafflinger, E., Schneider, M, Alioto, T, Tamborindeguy, C, Maglott, Donna, Hines, S., Vilcinskas, A., Williamson, M.S., Lewis, Lora R, Marcet-Houben, M, Solovyev, V., Duncan, EJ, Wolstenholme, A, Maglott, D, Guigó, R., Martinez-Torres, D, Rider, Stanley Dean, Duncan, E., Hansen, Karina K., Gerardo, Nicole M., Lozado, Ryan J., Morgan, Margaret B., Dale, RP, Price, Daniel R. G., Ermolaeva, Olga, Murphy, T, Hedges, Dale, Jiang, Huaiyang, Rispe, Claude, Chavez, D, Dale, R.P., Gauthier, J-P, Vieira, F.G., Heddi, Abdelaziz, Miyagishima, S.-Y., Martinez-Torres, David, Kaloshian, I, Nikoh, Naruo, Stanke, Mario, International Aphid Genomics Consortium, Vos, Martin, De, Kiryutin, B., Lozado, RJ, Davies, T. G. Emyr, Field, L.M., Ferrier, David, Dinh, Huyen H, Legeai, F., Jhangian, Shalini N., Wright, R.A., Fitzroy, CIJ, Hume, J., Ren, Q, de Vos, M, Wilkinson, TL, Ortiz-Rivas, B., Carolan, JC, Walsh, TK, McCutcheon, John P., Pruitt, K, Pruitt, Kim, Okwuonu, Geoffrey O, Caillaud, M, Heckel, D., Bickel, R.D., Thomas, G, Chen, Hsiu Chuan, Ghanim, M, Gabisi, Ramatu Ayiesha, Ashton, Peter D, Fenton, B, Robertson, Hugh M., Heckel, DG, Sagot, Marie France, Burke, G., Colella, S, Jones, A., Tamarit, D., Gordon, K, Atamian, H, Altincicek, B., Thibaud-Nissen, F., Koga, R., Duncan, Elizabeth, van Fleet, Eric, Anselme, Caroline, Williams, Rex L., Hansen, KK, Joshi, Vandita, Patel, B.M., Fitzroy, C.I.J., Brault, Veronique, Williamson, Martin S., Rizk, Guillaume, Kushlan, Philip F, Ramsey, J, Latorre, A., Pu, L.-L., Camara, Francisco, Butts, T., Liu, Y.-S., Williamson, MS, Cottret, Ludovic, Price, DRG, Smith, J, Burke, Gaelen, Zhou, Jing Jiang, Cazzamali, G., Reardon, Karen T, Hansen, K.K., Alioto, T., Cazzamali, Giuseppe, Abdel-latief, Mohatmed, Wilson, M., Permal, E., Williamson, M., Wilson, A.C.C., Janssen, R., Hines, Sandra, Stafflinger, Elisabeth, Hunter, W., Permal, E, Nazareth, L.V., McCutcheon, John P, Moran, Nancy A, Brault, V., Velarde, R, Chavez, D., Fenton, B., Lozado, R.J., Llorens, Carlos, Jones, DH, Dang, Phat M, Ashton, PD, Nazareth, Lynne V, McGregor, A, Jones, Andrew, Williamson, S, Dao, Marvin Diep, Gauthier, J.-P., Lavenier, D., Dearden, Peter, Price, Daniel R G, Pu, Ling-Ling, Nguyen, Ngoc Bich, Ashton, P., Nicolas, Jacques, Jones, A, Rizk, G., Williamson, M, Thomas, Gavin, Morgan, MB, Edwards, Owain R., Channels, Ion, Campbell, P., Huybrechts, J, Reeck, GR, Jhangian, SN, Vattathil, S, Kosarev, P, Williamson, S., Morgan, M.B., Perez-Brocal, Vicente, Christiaens, O., Huang, W., Hedges, D., Jhangian, S.N., Moen, C, Hurwitz, B, Reeck, G.R., Permal, Emmanuelle, Spragg, Chelsea J., Llorens, C., Kapustin, Y, Pu, L-L, Gabaldon, T, Davis, GK, Grimmelikhuijzen, Cornelis J. P., Vieira, Filipe G., Gerardo, N.M., Gordon, Karl, Brisson, Jennifer A., Williamson, Sally, Charles, H, Seah, S, Zhang, Lan, Fowler, Gerald R., Hitchens, ME, Zee, Maurijn, Van Der, Srinivasan, D., Chavez, Dean, Douglas, A, Ruiz, San Juana, Liu, R, Kapustin, Y., Santibanez, J, Jr, RSD, Walsh, Thomas K, Willson, Alex C.C., Dao, M.D., Huang, Wenting, Edwards, OR, Chang, C.-C., Lewis, L.R., van der Zee, M, Douglas, A.E., McCutcheon, JP, Wilkinson, Thomas L., Parker, B.J., Lu, H-L, Murphy, T., Stanke, M., Kitts, P, Jander, G., Zhang, L, Rider, Stanley Dean, Jr., Zhang, J, Mariotti, M, Bell, S.N., Marcet-Houben, Marina, Dearden, P, Duncan, E.J., Chen, Hsiu-Chuan, Macdonald, Sandy, Janssen, R, Fukatsu, Takema, Gibbs, Richard A, Worley, K.C., Reeck, Gerald R., Rispe, C, Dao, MD, Diaz, J., Stern, David, Moya, Andres, Febvay, Gerard, Shigenobu, S, Okwuonu, GO, Macdonald, S, Reardon, KT, van Fleet, E, Shigenobu, Shuji, Cortés, T., Legeai, Fabrice, Latorre, Amparo, Atamian, Hagop, Ramsey, John, Fukatsu, T, Steffen, David, Jones, Derek H., Bell, Stephanie N, Jones, Derek H, Spragg, Chelsea J, He, Xiao Li, Richards, S., Huang, W, Gabaldón, T., Velarde, Rodrigo, Sagot, Marie-France, Tagu, D., Quesneville, H, Veenstra, JA, Miura, Toru, Febvay, G., Janssen, Ralf, Nicolas, J, Johnson, A.J., Butts, T, Ferrier, D., Febvay, G, Jhangian, Shalini N, Nakabachi, A, Hauser, F., Kamphuis, Lars G, Vellozo, A., Cass, B., Bell, Stephanie N., Hunter, Wayne, Vilcinskas, Andreas, He, X.-L., Santibanez, J., Int Aphid Genomics Consortium, Rozas Liras, Julio A., McGregor, Alistair, Kitts, Paul, Calevro, F., Ju, H.-J., Chang, Chun Che, Latorre, A, Field, L. M., Smadja, C., Dearden, P., Moran, Nancy A., Grimmelikhuijzen, Cornelis J.P., Aguilar, J., Bickel, Ryan D., Lewis, LR, Kudo, T, Hurwitz, Bonnie, Wright, Rita A, Duncan, Elizabeth J., Zhou, J.-J., Alioto, Tyler, Smagghe, Guy, Collin, O, Kushlan, Philip F., Ortiz-Rivas, B, Anselme, C., Abdel-latief, M, Kiryutin, Boris, Rahbe, Y, Robichon, A., Colella, Stefano, Iga, M., Gibbs, R.A., Okwuonu, Geoffrey O., Huybrechts, J., Hines, S, Hitchens, M.E., Veenstra, J.A., Heddi, A., Nguyen, N.B., Ashton, P, Chang, C-C, , International Aphid Genomics Consortium, Okwuonu, G.O., Kovar, Christie, Barribeau, Seth, Wolstenholme, A., Kosarev, Peter, Davis, Clay, Tagu, D, Tamborindeguy, C., Liu, Yih-shin, Wilson, Alex C.C., Fleet, Eric, Van, Sapojnikov, V., Jaubert-Possamai, Stephanie, Zhou, J-J., Sattelle, David, Hunnicutt, L, Nakabachi, Atsushi, Dombrovsky, Aviv, Tamarit, Daniel, Ollivier, M, Monsion, B., Quesneville, Hadi, Nguyen, NB, Murphy, Terence, Koga, R, Dinh, Huyen H., Ren, Qinghu, Rahbé, Y., Reeck, Gerald, Cree, A., Diaz, Jason, Pignatelli, Miguel, Dang, PM, Gibbs, RA, Ferrier, D, Spragg, C.J., Edwards, O.R., Wilson, Alex C C, Ramsey, J., Degnan, Patrick, Sapojnikov, Victor, Jaubert, Stéphanie, Gibbs, Richard A., Nazareth, Lynne V., Hume, Jennifer, Srinivasan, D, Bickel, RD, Calevro, Federica, Guigo, Roderic, Richards, Stephen, Pu, Ling Ling, Smadja, C, Campbell, P, Chandrabose, Mimi N., Brisson, Jennifer A, Grimmelikhuijzen, Cornelis JP, Tamames, J, Lavenier, Dominique, Morgan, Margaret B, Rider Jr., Stanley Dean, Ashton, Peter, Davis, C, Chang, Chun-che, Smadja, Carole, Warren, J.T., Cottret, L., Gatehouse, JA, Guigo, R, Solovyev, Victor, Robichon, A, Jander, Georg, Robichon, Alain, Heddi, A, Calevro, F, Mariotti, Marco, Vincent-Monegat, C., Gerado, N., Aguilar, Jose, Consortium, IAG, Worley, Kim C., Williams, Rex L Jr, Janssen, Ralf,, Lee, S.L., Walsh, Thomas K., Ruiz, SJ, Kamphuis, LG, Kovar, C., Ishikawa, A., Iga, Masatoshi, Hlavina, Wratko, Kushlan, PF, Thibaud-Nissen, Francoise, Singh, K., Quesneville, H., Johnson, AJ, Spragg, CJ, He, X-L., De Vos, M., Duncan, E, Miyagishima, Shin Ya, Kudo, T., Lopez, J, Koga, Ryuichi, Warren, James T, Rozas, J., Liu, Renhu, Steffen, D, Souvorov, A, Nikoh, N., Rider, Stanley Dean Jr, Kovar, C, Liu, R., Vincent-Monegat, C, Field, LM, Vattathil, S., Wright, RA, Kamins, Alexandra, Fowler, G.R., Llorens, C, Evans, J., Lu, Hsiao Ling, Edwards, Owain R, Veenstra, Jan A, Ju, H-J, Ghanim, M., Worley, KC, Warren, James T., Wolstenholme, Adrian, Stern, D, Jander, G, Sapojnikov, V, Ruiz, S.J., Nicolas, J., Warren, JT, Williams, Rex L., Jr., Marcet-Houben, M., Williams, Rex L, Grimmelikhuijzen, CJP, Schwartz, J, Bell, SN, Caillaud, M., Sagot, M.F., Vellozo, Augusto, Burke, G, Fitzroy, Carol IJ, Abdel-Latief, M., Zhang, J., Rizk, G, Douglas, Angela E., Dale, Richard P., Fukatsu, T., Perez-Brocal, V, Van Fleet, E., Davies, T.G.E., Seah, Stuart, Gatehouse, J. A., Ferrier, David Ellard Keith, Grimmelikhuijzen, Cornelis J P, McCutcheon, J.P., The International Aphid Genomics Consortium, Iagc, Carolan, James C., Gerardo, Nichole M., Gibbs , R., Sattelle, D, Pignatelli, M., Solovyev, V, Lee, Sandra L, Kitts, P., Davis, C., Steffen, D., Zhang, L., Cazzamali, G, Tamarit, D, Ju, Ho Jong, Thibaud-Nissen, F, Liu, Yih Shin, Shigenobu, S., Reardon, K.T., Moran, Nancy, Moran, NA, Stern, D., Barribeau, SM, Souvorov, A., Rider Jr., S.D., Vieira, FG, Gatehouse, J.A., Cottret, L, McGregor, A., Chandrabose, MN, He, Xiao-Li, Hauser, Frank, Worley, Kim C, Hilgarth, Roland S, Maglott, D., Pignatelli, M, Moran, N, Gilbert, D., Brisson, JA, Wilkinson, Thomas L, Dombrovsky, A, Dale, Richard P, Futami, Ricardo, Ghanim, Murad, Tamames, Javier, Davis, Gregory K, Patel, Bella Mayurkumar, Fitzroy, Carol I J, Moran, N., Martínez-Torres, D., Lavenier, D, Williamson, M. S., Rozas, J, Lopez, J., Leonardo, T, Altincicek, Boran, Charles, H., Degnan, P., Lopez, John, Douglas, Angela E, Johnson, Angela Jolivet +778 morecore +1 more sourceSPG4 and Dementia: Expanding the Clinical Spectrum
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective
Hereditary spastic paraplegia (HSP) is a group of disorders characterized by progressive spasticity and lower limb weakness, with mutations in SPG4/SPAST being the most common cause. Detailed studies and clinical and molecular comparisons across different populations are missing.Emanuele Panza, Arun Meyyazhagan, Eliseo Picchi, Gustavo Ribas, Ingrid Faber, Ryosuke Miyamoto, Preethi Basavaraju, Paolo Eusebi, Haripriya Kuchi Bhotla, Mario Stasi, Fabrizio Gaudiello, Francesco Patti, Filippo Maria Santorelli, Marcondes Cavalcante França Jr, José Luiz Pedroso, Orlando Graziani Povoas Barsottini, Hélio Afonso Ghizoni Teive, Peter Henry St George‐Hyslop, Toshitaka Kawarai, Antonio Orlacchio +19 morewiley +1 more sourceInsights into the Musa genome: Syntenic relationships to rice and between Musa species [PDF]
, 2008 Background Musa species (Zingiberaceae, Zingiberales) including bananas and plantains are collectively the fourth most important crop in developing countries.Santos, Candice M.R., Sasaki Takuji, Magali Lescot, Matsumoto Takashi, D'Hont Angélique, Erin Hine, Pappas Junior, Georgios, Ciampi, A.Y., Pietro Piffanelli, D'Hont, Angélique, Althoff, Ryan, Manoel T Souza, Lescot Magali, Piffanelli, Pietro, Catherine M Ronning, Leebens-Mack Jim, Souza, M.T., Leebens-Mack, Jim, Ana Y Ciampi, Candice M.R Santos, Vilarinhos, Alberto, Ronning Catherine M, Manuel Ruiz, Vilarinhos Alberto D, Town Christopher D, Ciampi Ana Y, Ronning, Catherine, Santos, Candice Mr, Kanamori Hiroyuki, Ruiz, Manuel, Jim Leebens-Mack, Pappas Georgios J, Vilarinhos, Alberto Duarte, Arbogast, Tammy, Foo Cheung, Cheung, Foo, Ruiz Manuel, Lescot, Magali, Da Silva, Felipe, Town, Christopher, da Silva Felipe R, Matsumoto, Takashi, Haas, Brian, Miller, Robert Ng, Blanc Guillaume, Miller, Roberto Neil Gerard, Takashi Matsumoto, Souza, Manoel, Felipe R da Silva, Guillaume Blanc, Arbogast Tammy, Haas Brian J, Miller Robert NG, Takuji Sasaki, Chris D Town, Garsmeur, Olivier, Piffanelli Pietro, Hiroyuki Kanamori, Robert N. G. Miller, Alberto D Vilarinhos, Ciampi, Ana, Tammy Arbogast, Santos Candice MR, Santos, C.R., Althoff Ryan, Vilarinhos, A., Milller, R.N.G., Sasaki, Takuji, Garsmeur Olivier, Blanc, Guillaume, Angelique D'Hont, Pappas, Georgios, Glaszmann Jean-Christophe, Kanamori, Hiroyuki, Olivier Garsmeur, Souza Manoel T, Pappas, G., Ryan Althoff, Cheung Foo, Piffanelli, P., Dhont, A., Georgios J Pappas, Hine, Erin, Jean-Christophe Glaszmann, Glaszmann, Jean-Christophe, Silva, F.R., Brian J Haas, Hine Erin +87 morecore +1 more sourceRNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective
Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.Zhimei Liu, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang +21 morewiley +1 more sourceLocalization of an accessory helicase at the replisome is critical in sustaining efficient genome duplication [PDF]
, 2010 © The Author(s) 2010. Published by Oxford University PressGenome duplication requires accessory helicases to displace proteins ahead of advancing replication forks.Lloyd, RG, McGlynn, P, Hazel Bell, Robert G. Lloyd, John Atkinson, Peter McGlynn, Atkinson, J, Bell, H, Christian J. Rudolph, Gupta, MK, Rudolph, CJ, Milind K. Gupta +11 morecore +1 more sourceEarly Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective
SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.Rotem Orbach, Sandra Donkervoort, Carola Hedberg‐Oldfors, Giovanni Baranello, Dimah Saade, Precilla D'Souza, Ruchee Patel, Eva Michael, A. Reghan Foley, Diana Bharucha‐Goebel, S. Jin Haugland, Meghan McAnally, Omer Abdul Hamid, Katherine Chao, Ellen F. Macnamara, Alan H. Beggs, Anna Sarkozy, Juliane Mueller, Steven A. Moore, Richard S. Finkel, Cynthia J. Tifft, Francesco Muntoni, Anders Oldfors, Carsten G. Bönnemann +23 morewiley +1 more source