Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing von Consugar, Mark B., Navarro-Gomez, Daniel, Place, Emily M., Bujakowska, Kinga M., Sousa, Maria E., Fonseca-Kelly, Zoë D., Taub, Daniel G., Janessian, Maria, Wang, Dan Yi, Au, Elizabeth D., Sims, Katherine B., Sweetser, David A., Fulton, Anne B., Liu, Qin, Wiggs, Janey L., Gai, Xiaowu, Pierce, Eric A.

Volltext

Multiple markers for melanoma progression regulated by DNA methylation: insights from transcriptomic studies von Gallagher, William M., Bergin, Orla E., Rafferty, Mairin, Kelly, Zoë D., Nolan, Ilse-Maria, Fox, Edward J.P., Culhane, Aedin C., McArdle, Linda, Fraga, Mario F., Hughes, Linda, Currid, Caroline A., O'Mahony, Fiona, Byrne, Aileen, Murphy, Alison A., Moss, Catherine, McDonnell, Susan, Stallings, Raymond L., Plumb, Jane A., Esteller, Manel, Brown, Robert, Dervan, Peter A., Easty, David J.

Volltext

Interaction of Soft Condensed Materials with Living Cells: Phenotype/Transcriptome Correlations for the Hydrophobic Effect von Allen, Lorcan T., Edward J. P. Fox, Blute, Irena, Kelly, Zoe D., Rochev, Yuri, Keenan, Alan K., Dawson, Kenneth A., Gallagher, William M.

Volltext

Panel-based Genetic Diagnostic Testing for Inherited Eye Diseases is Highly Accurate and Reproducible and More Sensitive for Variant Detection Than Exome Sequencing von Consugar, Mark B, Navarro-Gomez, Daniel, Place, Emily M, Bujakowska, Kinga M, Sousa, Maria E, Fonseca-Kelly, Zoë D, Taub, Daniel G, Janessian, Maria, Wang, Dan Yi, Au, Elizabeth D, Sims, Katherine B, Sweetser, David A, Fulton, Anne B, Liu, Qin, Wiggs, Janey L, Gai, Xiaowu, Pierce, Eric A

Volltext

DNA G‑Quadruplex and i‑Motif Structure Formation Is Interdependent in Human Cells von King, Jessica J, Irving, Kelly L, Evans, Cameron W, Chikhale, Rupesh V, Becker, Rouven, Morris, Christopher J, Peña Martinez, Cristian D, Schofield, Peter, Christ, Daniel, Hurley, Laurence H, Waller, Zoë A. E, Iyer, K. Swaminathan, Smith, Nicole M

Volltext

Transposon Mutagenesis in Chlamydia trachomatis Identifies CT339 as a ComEC Homolog Important for DNA Uptake and Lateral Gene Transfer von LaBrie, Scott D, Dimond, Zoë E, Harrison, Kelly S, Baid, Srishti, Wickstrum, Jason, Suchland, Robert J, Hefty, P Scott

Volltext

Effects of cleft lip on visual scanning and neural processing of infant faces von Hahn, Amanda C, Riedelsheimer, Juergen A, Royer, Zoë, Frederick, Jeffrey, Kee, Rachael, Crimmins, Rhiannon, Huber, Bernd, Harris, David H, Jantzen, Kelly J

Volltext

New Evidence for a Flux-independent Spectral Index of Sgr A in the Near-infrared von Paugnat, Hadrien, Do, Tuan, Gautam, Abhimat K., Martinez, Gregory D., Ghez, Andrea M., Sakai, Shoko, Weldon, Grant C., Hosek, Matthew W., Haggard, Zoë, O’Neil, Kelly Kosmo, Becklin, Eric E., Witzel, Gunther, Lu, Jessica R., Matthews, Keith

Volltext

AVONET : morphological, ecological and geographical data for all birds von Tobias, Joseph A., Sheard, Catherine, Pigot, Alex L., Devenish, Adam J. M., Sayol, Ferran, Neate‐Clegg, Montague H. C., Alioravainen, Nico, Weeks, Thomas L., Barber, Robert A., Cooper, Jacob C., Pauwels, Olivier S. G., Analuddin, Kangkuso, Fjeldså, Jon, Seddon, Nathalie, Sweet, Paul R., DeClerck, Fabrice A. J., Naka, Luciano N., Aleixo, Alexandre, MacGregor, Hannah E. A., Böhning‐Gaese, Katrin, Rahbek, Carsten, Fritz, Susanne A., Thomas, Gavin H., Schleuning, Matthias, Vincent, Claire, Phillips, Anna G., Montaño‐Centellas, Flavia A., Leandro‐Silva, Victor, Freeman, Benjamin G., Bregman, Tom P., Cooney, Christopher R., Hughes, Emma C., Capp, Elliot J. R., Varley, Zoë K., Friedman, Nicholas R., Korntheuer, Heiko, Trisos, Christopher H., Weeks, Brian C., Hanz, Dagmar M., Töpfer, Till, Bravo, Gustavo A., Remeš, Vladimír, Nowak, Larissa, Moncada R., Amilkar J., Matysioková, Beata, Baldassarre, Daniel T., Martínez‐Salinas, Alejandra, Wolfe, Jared D., Chapman, Philip M., Daly, Benjamin G., Neu, Alexander, Ford, Michael A., Mayhew, Rebekah J., Fabio Silveira, Luis, Kelly, David J., Pollock, Henry S., Grabowska‐Zhang, Ada M., McEntee, Jay P., Meneses, Camila G., Muñoz, Marcia C., Powell, Luke L., Jamie, Gabriel A., Matthews, Thomas, Johnson, Oscar, Brito, Guilherme R. R., Zyskowski, Kristof, Crates, Ross, Harvey, Michael G., Jurado Zevallos, Maura, Hosner, Peter A., Bradfer‐Lawrence, Tom, Maley, James M., Stiles, F. Gary, Lima, Hevana S., Provost, Kaiya L., Chibesa, Moses, Mashao, Mmatjie, Howard, Jeffrey T., Mlamba, Edson, Chua, Marcus A. H., Gómez, M. Isabel, García, Natalia C., Päckert, Martin, Ali, Jarome R., Derryberry, Elizabeth P., Carlson, Monica L., Urriza, Rolly C., Brzeski, Kristin E., Prawiradilaga, Dewi M., Rayner, Matt J., Miller, Eliot T., Bowie, Rauri C. K., Lafontaine, René‐Marie, Scofield, R. Paul, Somarathna, Lankani, Lepage, Denis, Illif, Marshall, Neuschulz, Eike Lena, Templin, Mathias, Dehling, D. Matthias

Volltext

Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy von Helbig, Katherine L., Farwell Hagman, Kelly D., Shinde, Deepali N., Mroske, Cameron, Powis, Zöe, Li, Shuwei, Tang, Sha, Helbig, Ingo

Volltext

Subglacial hydrological control on flow of an Antarctic Peninsula palaeo-ice stream von Larter, Robert D, Hogan, Kelly A, Hillenbrand, Claus-Dieter, Smith, James A, Batchelor, Christine L, Cartigny, Matthieu, Tate, Alex J, Kirkham, James D, Roseby, Zoe A, Kuhn, Gerhard, Graham, Alastair G. C, Dowdeswell, Julian A

Volltext

MicroRNA-122: a novel hepatocyte-enriched in vitro marker of drug-induced cellular toxicity von Kia, Richard, Kelly, Lorna, Sison-Young, Rowena L C, Zhang, Fang, Pridgeon, Chris S, Heslop, James A, Metcalfe, Pete, Kitteringham, Neil R, Baxter, Melissa, Harrison, Sean, Hanley, Neil A, Burke, Zoë D, Storm, Mike P, Welham, Melanie J, Tosh, David, Küppers-Munther, Barbara, Edsbagge, Josefina, Starkey Lewis, Philip J, Bonner, Frank, Harpur, Ernie, Sidaway, James, Bowes, Joanne, Fenwick, Stephen W, Malik, Hassan, Goldring, Chris E P, Park, B Kevin

Volltext

Laboratory and molecular surveillance of paediatric typhoidal Salmonella in Nepal: Antimicrobial resistance and implications for vaccine policy von Britto, Carl D, Dyson, Zoe A, Duchene, Sebastian, Carter, Michael J, Gurung, Meeru, Kelly, Dominic F, Murdoch, David R, Ansari, Imran, Thorson, Stephen, Shrestha, Shrijana, Adhikari, Neelam, Dougan, Gordon, Holt, Kathryn E, Pollard, Andrew J

Volltext

Physical activity, mental health and well-being of adults during initial COVID-19 containment strategies: A multi-country cross-sectional analysis von Faulkner, James, O’Brien, Wendy J., McGrane, Bronagh, Wadsworth, Daniel, Batten, John, Askew, Christopher D., Badenhorst, Claire, Byrd, Erin, Coulter, Maura, Draper, Nick, Elliot, Catherine, Fryer, Simon, Hamlin, Michael J., Jakeman, John, Mackintosh, Kelly A., McNarry, Melitta A., Mitchelmore, Andrew, Murphy, John, Ryan-Stewart, Helen, Saynor, Zoe, Schaumberg, Mia, Stone, Keeron, Stoner, Lee, Stuart, Beth, Lambrick, Danielle

Volltext

Outcomes of diagnostic exome sequencing in patients with diagnosed or suspected autism spectrum disorders von Rossi, Mari, El-Khechen, Dima, Black, Mary Helen, Hagman, Kelly Farwell, Tang, Sha, Powis, Zoe

Volltext

Classification of Genes: Standardized Clinical Validity Assessment of Gene–Disease Associations Aids Diagnostic Exome Analysis and Reclassifications von Smith, Erica D., Radtke, Kelly, Rossi, Mari, Shinde, Deepali N., Darabi, Sourat, El‐Khechen, Dima, Powis, Zöe, Helbig, Katherine, Waller, Kendra, Grange, Dorothy K., Tang, Sha, Farwell Hagman, Kelly D.

Volltext

Infant Visual Brain Development and Inherited Genetic Liability in Autism von Girault, Jessica B., Donovan, Kevin, Hawks, Zoë, Talovic, Muhamed, Forsen, Elizabeth, Elison, Jed T., Shen, Mark D., Swanson, Meghan R., Wolff, Jason J., Kim, Sun Hyung, Nishino, Tomoyuki, Davis, Savannah, Snyder, Abraham Z., Botteron, Kelly N., Estes, Annette M., Dager, Stephen R., Hazlett, Heather C., Gerig, Guido, McKinstry, Robert, Pandey, Juhi, Schultz, Robert T., St. John, Tanya, Zwaigenbaum, Lonnie, Todorov, Alexandre, Truong, Young, Styner, Martin, Pruett, John R., Constantino, John N., Piven, Joseph

Volltext

Advancing specificity in delirium: The delirium subtyping initiative von Bowman, Emily M. L., Brummel, Nathan E., Caplan, Gideon A., Cunningham, Colm, Evered, Lis A., Fiest, Kirsten M., Girard, Timothy D., Jackson, Thomas A., LaHue, Sara C., Lindroth, Heidi L., Maclullich, Alasdair M. J., McAuley, Daniel F., Oh, Esther S., Oldham, Mark A., Page, Valerie J., Pandharipande, Pratik P., Potter, Kelly M., Sinha, Pratik, Slooter, Arjen J. C., Sweeney, Aoife M., Tieges, Zoë, Van Dellen, Edwin, Wilcox, Mary Elizabeth, Zetterberg, Henrik, Cunningham, Emma L.

Volltext

History of Anvers-Hugo Trough, western Antarctic Peninsula shelf, since the Last Glacial Maximum. Part I: Deglacial history based on new sedimentological and chronological data von Roseby, Zoë A., Smith, James A., Hillenbrand, Claus-Dieter, Cartigny, Matthieu J.B., Rosenheim, Brad E., Hogan, Kelly A., Allen, Claire S., Leventer, Amy, Kuhn, Gerhard, Ehrmann, Werner, Larter, Robert D.

Volltext

Enhanced utility of family-centered diagnostic exome sequencing with inheritance model–based analysis: results from 500 unselected families with undiagnosed genetic conditions von Farwell, Kelly D., Shahmirzadi, Layla, El-Khechen, Dima, Powis, Zöe, Chao, Elizabeth C., Tippin Davis, Brigette, Baxter, Ruth M., Zeng, Wenqi, Mroske, Cameron, Parra, Melissa C., Gandomi, Stephanie K., Lu, Ira, Li, Xiang, Lu, Hong, Lu, Hsiao-Mei, Salvador, David, Ruble, David, Lao, Monica, Fischbach, Soren, Wen, Jennifer, Lee, Shela, Elliott, Aaron, Dunlop, Charles L.M., Tang, Sha

Volltext