Alternative pre-mRNA processing regulates cell-type specific expression of the IL4l1 and NUP62 genes

por Wiemann, Stefan, Kolb-Kokocinski, Anja, Poustka, Annemarie
Publicado 2005

The systematic functional characterisation of Xq28 genes prioritises candidate disease genes

por Kolb-Kokocinski, Anja, Mehrle, Alexander, Bechtel, Stephanie, Simpson, Jeremy C, Kioschis, Petra, Wiemann, Stefan, Wellenreuther, Ruth, Poustka, Annemarie
Publicado 2006

Whole-exome sequencing in an isolated population from the Dalmatian island of Vis

por Jeroncic, Ana, Memari, Yasin, Ritchie, Graham RS, Hendricks, Audrey E, Kolb-Kokocinski, Anja, Matchan, Angela, Vitart, Veronique, Hayward, Caroline, Kolcic, Ivana, Glodzik, Dominik, Wright, Alan F, Rudan, Igor, Campbell, Harry, Durbin, Richard, Polašek, Ozren, Zeggini, Eleftheria, Boraska Perica, Vesna
Publicado 2016

Clonality of circulating tumor cells in breast cancer brain metastasis patients

por Riebensahm, Carlotta, Joosse, Simon A., Mohme, Malte, Hanssen, Annkathrin, Matschke, Jakob, Goy, Yvonne, Witzel, Isabell, Lamszus, Katrin, Kropidlowski, Jolanthe, Petersen, Cordula, Kolb-Kokocinski, Anja, Sauer, Sascha, Borgmann, Kerstin, Glatzel, Markus, Müller, Volkmar, Westphal, Manfred, Riethdorf, Sabine, Pantel, Klaus, Wikman, Harriet
Publicado 2019

Deficient methylation and formylation of mt-tRNA(Met) wobble cytosine in a patient carrying mutations in NSUN3

por Van Haute, Lindsey, Dietmann, Sabine, Kremer, Laura, Hussain, Shobbir, Pearce, Sarah F., Powell, Christopher A., Rorbach, Joanna, Lantaff, Rebecca, Blanco, Sandra, Sauer, Sascha, Kotzaeridou, Urania, Hoffmann, Georg F., Memari, Yasin, Kolb-Kokocinski, Anja, Durbin, Richard, Mayr, Johannes A., Frye, Michaela, Prokisch, Holger, Minczuk, Michal
Publicado 2016

Homozygous loss-of-function variants in European cosmopolitan and isolate populations

por Kaiser, Vera B., Svinti, Victoria, Prendergast, James G., Chau, You-Ying, Campbell, Archie, Patarcic, Inga, Barroso, Inês, Joshi, Peter K., Hastie, Nicholas D., Miljkovic, Ana, Taylor, Martin S., Enroth, Stefan, Memari, Yasin, Kolb-Kokocinski, Anja, Wright, Alan F., Gyllensten, Ulf, Durbin, Richard, Rudan, Igor, Campbell, Harry, Polašek, Ozren, Johansson, Åsa, Sauer, Sascha, Porteous, David J., Fraser, Ross M., Drake, Camilla, Vitart, Veronique, Hayward, Caroline, Semple, Colin A., Wilson, James F.
Publicado 2015

Application of phage display to high throughput antibody generation and characterization

por Schofield, Darren J, Pope, Anthony R, Clementel, Veronica, Buckell, Jenny, Chapple, Susan DJ, Clarke, Kay F, Conquer, Jennie S, Crofts, Anna M, Crowther, Sandra RE, Dyson, Michael R, Flack, Gillian, Griffin, Gareth J, Hooks, Yvette, Howat, William J, Kolb-Kokocinski, Anja, Kunze, Susan, Martin, Cecile D, Maslen, Gareth L, Mitchell, Joanne N, O'Sullivan, Maureen, Perera, Rajika L, Roake, Wendy, Shadbolt, S Paul, Vincent, Karen J, Warford, Anthony, Wilson, Wendy E, Xie, Jane, Young, Joyce L, McCafferty, John
Publicado 2007

Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement

por Haack, Tobias B, Jackson, Christopher B, Murayama, Kei, Kremer, Laura S, Schaller, André, Kotzaeridou, Urania, de Vries, Maaike C, Schottmann, Gudrun, Santra, Saikat, Büchner, Boriana, Wieland, Thomas, Graf, Elisabeth, Freisinger, Peter, Eggimann, Sandra, Ohtake, Akira, Okazaki, Yasushi, Kohda, Masakazu, Kishita, Yoshihito, Tokuzawa, Yoshimi, Sauer, Sascha, Memari, Yasin, Kolb-Kokocinski, Anja, Durbin, Richard, Hasselmann, Oswald, Cremer, Kirsten, Albrecht, Beate, Wieczorek, Dagmar, Engels, Hartmut, Hahn, Dagmar, Zink, Alexander M, Alston, Charlotte L, Taylor, Robert W, Rodenburg, Richard J, Trollmann, Regina, Sperl, Wolfgang, Strom, Tim M, Hoffmann, Georg F, Mayr, Johannes A, Meitinger, Thomas, Bolognini, Ramona, Schuelke, Markus, Nuoffer, Jean-Marc, Kölker, Stefan, Prokisch, Holger, Klopstock, Thomas
Publicado 2015

Common genetic variation drives molecular heterogeneity in human iPSCs

por Kilpinen, Helena, Goncalves, Angela, Leha, Andreas, Afzal, Vackar, Alasoo, Kaur, Ashford, Sofie, Bala, Sendu, Bensaddek, Dalila, Casale, Francesco Paolo, Culley, Oliver J, Danecek, Petr, Faulconbridge, Adam, Harrison, Peter W, Kathuria, Annie, McCarthy, Davis, McCarthy, Shane A, Meleckyte, Ruta, Memari, Yasin, Moens, Nathalie, Soares, Filipa, Mann, Alice, Streeter, Ian, Agu, Chukwuma A, Alderton, Alex, Nelson, Rachel, Harper, Sarah, Patel, Minal, White, Alistair, Patel, Sharad R, Clarke, Laura, Halai, Reena, Kirton, Christopher M, Kolb-Kokocinski, Anja, Beales, Philip, Birney, Ewan, Danovi, Davide, Lamond, Angus I, Ouwehand, Willem H, Vallier, Ludovic, Watt, Fiona M, Durbin, Richard, Stegle, Oliver, Gaffney, Daniel J
Publicado 2017

Insights into hominid evolution from the gorilla genome sequence

por Scally, Aylwyn, Dutheil, Julien Y., Hillier, LaDeana W., Jordan, Greg E., Goodhead, Ian, Herrero, Javier, Hobolth, Asger, Lappalainen, Tuuli, Mailund, Thomas, Marques-Bonet, Tomas, McCarthy, Shane, Montgomery, Stephen H., Schwalie, Petra C., Tang, Y. Amy, Ward, Michelle C., Xue, Yali, Yngvadottir, Bryndis, Alkan, Can, Andersen, Lars N., Ayub, Qasim, Ball, Edward V., Beal, Kathryn, Bradley, Brenda J., Chen, Yuan, Clee, Chris M., Fitzgerald, Stephen, Graves, Tina A., Gu, Yong, Heath, Paul, Heger, Andreas, Karakoc, Emre, Kolb-Kokocinski, Anja, Laird, Gavin K., Lunter, Gerton, Meader, Stephen, Mort, Matthew, Mullikin, James C., Munch, Kasper, O’Connor, Timothy D., Phillips, Andrew D., Prado-Martinez, Javier, Rogers, Anthony S., Sajjadian, Saba, Schmidt, Dominic, Shaw, Katy, Simpson, Jared T., Stenson, Peter D., Turner, Daniel J., Vigilant, Linda, Vilella, Albert J., Whitener, Weldon, Zhu, Baoli, Cooper, David N., de Jong, Pieter, Dermitzakis, Emmanouil T., Eichler, Evan E., Flicek, Paul, Goldman, Nick, Mundy, Nicholas I., Ning, Zemin, Odom, Duncan T., Ponting, Chris P., Quail, Michael A., Ryder, Oliver A., Searle, Stephen M., Warren, Wesley C., Wilson, Richard K., Schierup, Mikkel H., Rogers, Jane, Tyler-Smith, Chris, Durbin, Richard
Publicado 2012