Holistic cancer genome profiling for every patient

gan Nik-Zainal, Serena, Memari, Yasin, Davies, Helen R.
Cyhoeddwyd yn Swiss Med Wkly (2020)

An interactive genome browser of association results from the UK10K cohorts project

gan Geihs, Matthias, Yan, Ying, Walter, Klaudia, Huang, Jie, Memari, Yasin, Min, Josine L., Mead, Daniel, Hubbard, Tim J., Timpson, Nicholas J., Down, Thomas A., Soranzo, Nicole
Cyhoeddwyd yn Bioinformatics (2015)

Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel

gan Huang, Jie, Howie, Bryan, McCarthy, Shane, Memari, Yasin, Walter, Klaudia, Min, Josine L., Danecek, Petr, Malerba, Giovanni, Trabetti, Elisabetta, Zheng, Hou-Feng, Gambaro, Giovanni, Richards, J. Brent, Durbin, Richard, Timpson, Nicholas J., Marchini, Jonathan, Soranzo, Nicole
Cyhoeddwyd yn Nat Commun (2015)

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

gan 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
Cyhoeddwyd yn Eur J Hum Genet (2016)

A practical framework and online tool for mutational signature analyses show inter-tissue variation and driver dependencies

gan Degasperi, Andrea, Amarante, Tauanne Dias, Czarnecki, Jan, Shooter, Scott, Zou, Xueqing, Glodzik, Dominik, Morganella, Sandro, Nanda, Arjun S., Badja, Cherif, Koh, Gene, Momen, Sophie E., Georgakopoulos-Soares, Ilias, Dias, João M. L., Young, Jamie, Memari, Yasin, Davies, Helen, Nik-Zainal, Serena
Cyhoeddwyd yn Nat Cancer (2020)

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

gan 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
Cyhoeddwyd yn Nat Commun (2016)

TTC25 Deficiency Results in Defects of the Outer Dynein Arm Docking Machinery and Primary Ciliary Dyskinesia with Left-Right Body Asymmetry Randomization

gan Wallmeier, Julia, Shiratori, Hidetaka, Dougherty, Gerard W., Edelbusch, Christine, Hjeij, Rim, Loges, Niki T., Menchen, Tabea, Olbrich, Heike, Pennekamp, Petra, Raidt, Johanna, Werner, Claudius, Minegishi, Katsura, Shinohara, Kyosuke, Asai, Yasuko, Takaoka, Katsuyoshi, Lee, Chanjae, Griese, Matthias, Memari, Yasin, Durbin, Richard, Kolb-Kokocinski, Anja, Sauer, Sascha, Wallingford, John B., Hamada, Hiroshi, Omran, Heymut
Cyhoeddwyd yn Am J Hum Genet (2016)

Immunofluorescence Analysis and Diagnosis of Primary Ciliary Dyskinesia with Radial Spoke Defects

gan Frommer, Adrien, Hjeij, Rim, Loges, Niki T., Edelbusch, Christine, Jahnke, Charlotte, Raidt, Johanna, Werner, Claudius, Wallmeier, Julia, Große-Onnebrink, Jörg, Olbrich, Heike, Cindrić, Sandra, Jaspers, Martine, Boon, Mieke, Memari, Yasin, Durbin, Richard, Kolb-Kokocinski, Anja, Sauer, Sascha, Marthin, June K., Nielsen, Kim G., Amirav, Israel, Elias, Nael, Kerem, Eitan, Shoseyov, David, Haeffner, Karsten, Omran, Heymut
Cyhoeddwyd yn Am J Respir Cell Mol Biol (2015)

Substitution mutational signatures in whole-genome-sequenced cancers in the UK population

gan Degasperi, Andrea, Zou, Xueqing, Amarante, Tauanne Dias, Martinez-Martinez, Andrea, Koh, Gene Ching Chiek, Dias, João M. L., Heskin, Laura, Chmelova, Lucia, Rinaldi, Giuseppe, Wang, Valerie Ya Wen, Nanda, Arjun S., Bernstein, Aaron, Momen, Sophie E., Young, Jamie, Perez-Gil, Daniel, Memari, Yasin, Badja, Cherif, Shooter, Scott, Czarnecki, Jan, Brown, Matthew A., Davies, Helen R., Nik-Zainal, Serena
Cyhoeddwyd yn Science (2022)

Genes Contributing to Pain Sensitivity in the Normal Population: An Exome Sequencing Study

gan Williams, Frances M. K., Scollen, Serena, Cao, Dandan, Memari, Yasin, Hyde, Craig L., Zhang, Baohong, Sidders, Benjamin, Ziemek, Daniel, Shi, Yujian, Harris, Juliette, Harrow, Ian, Dougherty, Brian, Malarstig, Anders, McEwen, Robert, Stephens, Joel C., Patel, Ketan, Menni, Cristina, Shin, So-Youn, Hodgkiss, Dylan, Surdulescu, Gabriela, He, Wen, Jin, Xin, McMahon, Stephen B., Soranzo, Nicole, John, Sally, Wang, Jun, Spector, Tim D.
Cyhoeddwyd 2012

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

gan 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.
Cyhoeddwyd yn Hum Mol Genet (2015)

DNAH11 Localization in the Proximal Region of Respiratory Cilia Defines Distinct Outer Dynein Arm Complexes

gan Dougherty, Gerard W., Loges, Niki T., Klinkenbusch, Judith A., Olbrich, Heike, Pennekamp, Petra, Menchen, Tabea, Raidt, Johanna, Wallmeier, Julia, Werner, Claudius, Westermann, Cordula, Ruckert, Christian, Mirra, Virginia, Hjeij, Rim, Memari, Yasin, Durbin, Richard, Kolb-Kokocinski, Anja, Praveen, Kavita, Kashef, Mohammad A., Kashef, Sara, Eghtedari, Fardin, Häffner, Karsten, Valmari, Pekka, Baktai, György, Aviram, Micha, Bentur, Lea, Amirav, Israel, Davis, Erica E., Katsanis, Nicholas, Brueckner, Martina, Shaposhnykov, Artem, Pigino, Gaia, Dworniczak, Bernd, Omran, Heymut
Cyhoeddwyd yn Am J Respir Cell Mol Biol (2016)

A rare variant in APOC3 is associated with plasma triglyceride and VLDL levels in Europeans

gan Timpson, Nicholas J., Walter, Klaudia, Min, Josine L., Tachmazidou, Ioanna, Malerba, Giovanni, Shin, So-Youn, Chen, Lu, Futema, Marta, Southam, Lorraine, Iotchkova, Valentina, Cocca, Massimiliano, Huang, Jie, Memari, Yasin, McCarthy, Shane, Danecek, Petr, Muddyman, Dawn, Mangino, Massimo, Menni, Cristina, Perry, John R. B., Ring, Susan M., Gaye, Amadou, Dedoussis, George, Farmaki, Aliki-Eleni, Burton, Paul, Talmud, Philippa J., Gambaro, Giovanni, Spector, Tim D., Smith, George Davey, Durbin, Richard, Richards, J Brent, Humphries, Steve E., Zeggini, Eleftheria, Soranzo, Nicole
Cyhoeddwyd 2014

Erratum: A rare variant in APOC3 is associated with plasma triglyceride and VLDL levels in Europeans

gan Timpson, Nicholas J., Walter, Klaudia, Min, Josine L., Tachmazidou, Ioanna, Malerba, Giovanni, Shin, So-Youn, Chen, Lu, Futema, Marta, Southam, Lorraine, Iotchkova, Valentina, Cocca, Massimiliano, Huang, Jie, Memari, Yasin, McCarthy, Shane, Danecek, Petr, Muddyman, Dawn, Mangino, Massimo, Menni, Cristina, Perry, John R. B., Ring, Susan M., Gaye, Amadou, Dedoussis, George, Farmaki, Aliki-Eleni, Burton, Paul, Talmud, Philippa J., Gambaro, Giovanni, Spector, Tim D., Smith, George Davey, Durbin, Richard, Richards, J. Brent, Humphries, Steve E., Zeggini, Eleftheria, Soranzo, Nicole
Cyhoeddwyd yn Nat Commun (2015)

Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement

gan 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
Cyhoeddwyd yn Ann Clin Transl Neurol (2015)

Common genetic variation drives molecular heterogeneity in human iPSCs

gan 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
Cyhoeddwyd yn Nature (2017)

CFAP45 deficiency causes situs abnormalities and asthenospermia by disrupting an axonemal adenine nucleotide homeostasis module

gan Dougherty, Gerard W., Mizuno, Katsutoshi, Nöthe-Menchen, Tabea, Ikawa, Yayoi, Boldt, Karsten, Ta-Shma, Asaf, Aprea, Isabella, Minegishi, Katsura, Pang, Yuan-Ping, Pennekamp, Petra, Loges, Niki T., Raidt, Johanna, Hjeij, Rim, Wallmeier, Julia, Mussaffi, Huda, Perles, Zeev, Elpeleg, Orly, Rabert, Franziska, Shiratori, Hidetaka, Letteboer, Stef J., Horn, Nicola, Young, Samuel, Strünker, Timo, Stumme, Friederike, Werner, Claudius, Olbrich, Heike, Takaoka, Katsuyoshi, Ide, Takahiro, Twan, Wang Kyaw, Biebach, Luisa, Große-Onnebrink, Jörg, Klinkenbusch, Judith A., Praveen, Kavita, Bracht, Diana C., Höben, Inga M., Junger, Katrin, Gützlaff, Jana, Cindrić, Sandra, Aviram, Micha, Kaiser, Thomas, Memari, Yasin, Dzeja, Petras P., Dworniczak, Bernd, Ueffing, Marius, Roepman, Ronald, Bartscherer, Kerstin, Katsanis, Nicholas, Davis, Erica E., Amirav, Israel, Hamada, Hiroshi, Omran, Heymut
Cyhoeddwyd yn Nat Commun (2020)

Whole-genome sequence-based analysis of thyroid function

gan Taylor, Peter N., Porcu, Eleonora, Chew, Shelby, Campbell, Purdey J., Traglia, Michela, Brown, Suzanne J., Mullin, Benjamin H., Shihab, Hashem A., Min, Josine, Walter, Klaudia, Memari, Yasin, Huang, Jie, Barnes, Michael R., Beilby, John P., Charoen, Pimphen, Danecek, Petr, Dudbridge, Frank, Forgetta, Vincenzo, Greenwood, Celia, Grundberg, Elin, Johnson, Andrew D., Hui, Jennie, Lim, Ee M., McCarthy, Shane, Muddyman, Dawn, Panicker, Vijay, Perry, John R.B., Bell, Jordana T., Yuan, Wei, Relton, Caroline, Gaunt, Tom, Schlessinger, David, Abecasis, Goncalo, Cucca, Francesco, Surdulescu, Gabriela L., Woltersdorf, Wolfram, Zeggini, Eleftheria, Zheng, Hou-Feng, Toniolo, Daniela, Dayan, Colin M., Naitza, Silvia, Walsh, John P., Spector, Tim, Davey Smith, George, Durbin, Richard, Brent Richards, J., Sanna, Serena, Soranzo, Nicole, Timpson, Nicholas J., Wilson, Scott G.
Cyhoeddwyd yn Nat Commun (2015)

Erratum: Whole-genome sequence-based analysis of thyroid function

gan Taylor, Peter N., Porcu, Eleonora, Chew, Shelby, Campbell, Purdey J., Traglia, Michela, Brown, Suzanne J., Mullin, Benjamin H., Shihab, Hashem A., Min, Josine, Walter, Klaudia, Memari, Yasin, Huang, Jie, Barnes, Michael R., Beilby, John P., Charoen, Pimphen, Danecek, Petr, Dudbridge, Frank, Forgetta, Vincenzo, Greenwood, Celia, Grundberg, Elin, Johnson, Andrew D., Hui, Jennie, Lim, Ee M., McCarthy, Shane, Muddyman, Dawn, Panicker, Vijay, Perry, John R.B., Bell, Jordana T., Yuan, Wei, Relton, Caroline, Gaunt, Tom, Schlessinger, David, Abecasis, Goncalo, Cucca, Francesco, Surdulescu, Gabriela L., Woltersdorf, Wolfram, Zeggini, Eleftheria, Zheng, Hou-Feng, Toniolo, Daniela, Dayan, Colin M., Naitza, Silvia, Walsh, John P., Spector, Tim, Smith, George Davey, Durbin, Richard, Richards, J. Brent, Sanna, Serena, Soranzo, Nicole, Timpson, Nicholas J., Wilson, Scott G.
Cyhoeddwyd yn Nat Commun (2015)

Discovery and refinement of genetic loci associated with cardiometabolic risk using dense imputation maps

gan Iotchkova, Valentina, Huang, Jie, Morris, John A., Jain, Deepti, Barbieri, Caterina, Walter, Klaudia, Min, Josine L., Chen, Lu, Astle, William, Cocca, Massimilian, Deelen, Patrick, Elding, Heather, Farmaki, Aliki-Eleni, Franklin, Christopher S., Franberg, Mattias, Gaunt, Tom R., Hofman, Albert, Jiang, Tao, Kleber, Marcus E., Lachance, Genevieve, Luan, Jian'an, Malerba, Giovanni, Matchan, Angela, Mead, Daniel, Memari, Yasin, Ntalla, Ioanna, Panoutsopoulou, Kalliope, Pazoki, Raha, Perry, John R.B., Rivadeneira, Fernando, Sabater-Lleal, Maria, Sennblad, Bengt, Shin, So-Youn, Southam, Lorraine, Traglia, Michela, van Dijk, Freerk, van Leeuwen, Elisabeth M., Zaza, Gianluigi, Zhang, Weihua, Amin, Najaf, Butterworth, Adam, Chambers, John C., Dedoussis, George, Dehghan, Abbas, Franco, Oscar H., Franke, Lude, Frontini, Mattia, Gambaro, Giovanni, Gasparini, Paolo, Hamsten, Anders, Issacs, Aaron, Kooner, Jaspal S., Kooperberg, Charles, Langenberg, Claudia, Marz, Winfried, Scott, Robert A., Swertz, Morris A., Toniolo, Daniela, Uitterlinden, Andre G., van Duijn, Cornelia M., Watkins, Hugh, Zeggini, Eleftheria, Maurano, Mathew T., Timpson, Nicholas J., Reiner, Alexander P., Auer, Paul L., Soranzo, Nicole
Cyhoeddwyd yn Nat Genet (2016)