Genetic susceptibility to cervical neoplasia

od Brown, Matthew A., Leo, Paul J.
Wydane w Papillomavirus Res (2019)

Integrated genome-wide chromatin occupancy and expression analyses identify key myeloid pro-differentiation transcription factors repressed by Myb

od Zhao, Liang, Glazov, Evgeny A., Pattabiraman, Diwakar R., Al-Owaidi, Faisal, Zhang, Ping, Brown, Matthew A., Leo, Paul J., Gonda, Thomas J.
Wydane 2011

Compound heterozygous mutations in FBN1 in a large family with Marfan syndrome

od McInerney‐Leo, Aideen M., West, Jennifer, Wheeler, Lawrie, Leo, Paul J., Summers, Kim M., Anderson, Lisa, Brown, Matthew A., West, Malcolm, Duncan, Emma L.
Wydane w Mol Genet Genomic Med (2020)

Exome-wide study of ankylosing spondylitis demonstrates additional shared genetic background with inflammatory bowel disease

od Robinson, Philip C, Leo, Paul J, Pointon, Jennifer J, Harris, Jessica, Cremin, Katie, Bradbury, Linda A, Stebbings, Simon, Harrison, Andrew A, Duncan, Emma L, Evans, David M, Wordsworth, Paul B, Brown, Matthew A
Wydane w NPJ Genom Med (2016)

Mutations in human C2CD3 cause skeletal dysplasia and provide new insights into phenotypic and cellular consequences of altered C2CD3 function

od Cortés, Claudio R., McInerney-Leo, Aideen M., Vogel, Ida, Rondón Galeano, Maria C., Leo, Paul J., Harris, Jessica E., Anderson, Lisa K., Keith, Patricia A., Brown, Matthew A., Ramsing, Mette, Duncan, Emma L., Zankl, Andreas, Wicking, Carol
Wydane w Sci Rep (2016)

Whole exome sequencing is an efficient, sensitive and specific method of mutation detection in osteogenesis imperfecta and Marfan syndrome

od McInerney-Leo, Aideen M, Marshall, Mhairi S, Gardiner, Brooke, Coucke, Paul J, Van Laer, Lut, Loeys, Bart L, Summers, Kim M, Symoens, Sofie, West, Jennifer A, West, Malcolm J, Paul Wordsworth, B, Zankl, Andreas, Leo, Paul J, Brown, Matthew A, Duncan, Emma L
Wydane 2013

Short-Rib Polydactyly and Jeune Syndromes Are Caused by Mutations in WDR60

od McInerney-Leo, Aideen M., Schmidts, Miriam, Cortés, Claudio R., Leo, Paul J., Gener, Blanca, Courtney, Andrew D., Gardiner, Brooke, Harris, Jessica A., Lu, Yeping, Marshall, Mhairi, Scambler, Peter J., Beales, Philip L., Brown, Matthew A., Zankl, Andreas, Mitchison, Hannah M., Duncan, Emma L., Wicking, Carol
Wydane 2013

Multicentric Carpotarsal Osteolysis Is Caused by Mutations Clustering in the Amino-Terminal Transcriptional Activation Domain of MAFB

od Zankl, Andreas, Duncan, Emma L., Leo, Paul J., Clark, Graeme R., Glazov, Evgeny A., Addor, Marie-Claude, Herlin, Troels, Kim, Chong Ae, Leheup, Bruno P., McGill, Jim, McTaggart, Steven, Mittas, Stephan, Mitchell, Anna L., Mortier, Geert R., Robertson, Stephen P., Schroeder, Marie, Terhal, Paulien, Brown, Matthew A.
Wydane 2012

Multicentric Carpotarsal Osteolysis Is Caused by Mutations Clustering in the Amino-Terminal Transcriptional Activation Domain of MAFB

od Zankl, Andreas, Duncan, Emma L., Leo, Paul J., Clark, Graeme R., Glazov, Evgeny A., Addor, Marie-Claude, Herlin, Troels, Kim, Chong Ae, Leheup, Bruno P., McGill, Jim, McTaggart, Steven, Mittas, Stephen, Mitchell, Anna L., Mortier, Geert R., Robertson, Stephen P., Schroeder, Marie, Terhal, Paulien, Brown, Matthew A.
Wydane 2014

Meta-Analysis of Genome-Wide Studies Identifies MEF2C SNPs Associated with Bone Mineral Density at Forearm

od Zheng, Hou-Feng, Duncan, Emma, Yerges-Armstrong, Laura M., Eriksson, Joel, Bergström, Ulrica, Leo, Paul J., Leslie, William D., Goltzman, David, Blangero, John, Hanley, David A., Carless, Melanie A., Streeten, Elizabeth A., Lorentzon, Mattias, Brown, Matthew A., Spector, Tim D., Pettersson-Kymmer, Ulrika, Ohlsson, Claes, Mitchell, Braxton D., Richards, J. Brent
Wydane 2013

Genome-wide association study of extreme high bone mass: Contribution of common genetic variation to extreme BMD phenotypes and potential novel BMD-associated genes

od Gregson, Celia L., Newell, Felicity, Leo, Paul J., Clark, Graeme R., Paternoster, Lavinia, Marshall, Mhairi, Forgetta, Vincenzo, Morris, John A., Ge, Bing, Bao, Xiao, Duncan Bassett, J.H., Williams, Graham R., Youlten, Scott E., Croucher, Peter I., Davey Smith, George, Evans, David M., Kemp, John P., Brown, Matthew A., Tobias, Jon H., Duncan, Emma L.
Wydane w Bone (2018)

Rare variants in Fanconi anemia genes are enriched in acute myeloid leukemia

od Maung, Kyaw Ze Ya, Leo, Paul J., Bassal, Mahmoud, Casolari, Debora A., Gray, James X, Bray, Sarah C., Pederson, Stephen, Singhal, Deepak, Samaraweera, Saumya E., Nguyen, Tran, Cildir, Gökhan, Marshall, Mhairi, Ewing, Adam, Duncan, Emma L., Brown, Matthew A., Saal, Russell, Tergaonkar, Vinay, To, Luen Bik, Marlton, Paula, Gill, Devinder, Lewis, Ian, Deans, Andrew J, Brown, Anna L, D’Andrea, Richard J, Gonda, Thomas J
Wydane w Blood Cancer J (2018)

Genome-wide association study in Turkish and Iranian populations identify rare familial Mediterranean fever gene (MEFV) polymorphisms associated with ankylosing spondylitis

od Li, Zhixiu, Akar, Servet, Yarkan, Handan, Lee, Sau Kuen, Çetin, Pınar, Can, Gerçek, Kenar, Gökce, Çapa, Fernur, Pamuk, Omer Nuri, Pehlivan, Yavuz, Cremin, Katie, De Guzman, Erika, Harris, Jessica, Wheeler, Lawrie, Jamshidi, Ahmadreza, Vojdanian, Mahdi, Farhadi, Elham, Ahmadzadeh, Nooshin, Yüce, Zeynep, Dalkılıç, Ediz, Solmaz, Dilek, Akın, Berrin, Dönmez, Salim, Sarı, İsmail, Leo, Paul J., Kenna, Tony J., Önen, Fatos, Mahmoudi, Mahdi, Brown, Matthew A., Akkoc, Nurullah
Wydane w PLoS Genet (2019)

Defining the genetic susceptibility to cervical neoplasia—A genome-wide association study

od Leo, Paul J., Madeleine, Margaret M., Wang, Sophia, Schwartz, Stephen M., Newell, Felicity, Pettersson-Kymmer, Ulrika, Hemminki, Kari, Hallmans, Goran, Tiews, Sven, Steinberg, Winfried, Rader, Janet S., Castro, Felipe, Safaeian, Mahboobeh, Franco, Eduardo L., Coutlée, François, Ohlsson, Claes, Cortes, Adrian, Marshall, Mhairi, Mukhopadhyay, Pamela, Cremin, Katie, Johnson, Lisa G., Garland, Suzanne, Tabrizi, Sepehr N., Wentzensen, Nicolas, Sitas, Freddy, Little, Julian, Cruickshank, Maggie, Frazer, Ian H., Hildesheim, Allan, Brown, Matthew A.
Wydane w PLoS Genet (2017)

Correction: Defining the genetic susceptibility to cervical neoplasia—A genome-wide association study

od Leo, Paul J., Madeleine, Margaret M., Wang, Sophia, Schwartz, Stephen M., Newell, Felicity, Pettersson-Kymmer, Ulrika, Hemminki, Kari, Hallmans, Goran, Tiews, Sven, Steinberg, Winfried, Rader, Janet S., Castro, Felipe, Safaeian, Mahboobeh, Franco, Eduardo L., Coutlée, François, Ohlsson, Claes, Cortes, Adrian, Marshall, Mhairi, Mukhopadhyay, Pamela, Cremin, Katie, Johnson, Lisa G., Trimble, Cornelia L., Garland, Suzanne, Tabrizi, Sepehr N., Wentzensen, Nicolas, Sitas, Freddy, Little, Julian, Cruickshank, Maggie, Frazer, Ian H., Hildesheim, Allan, Brown, Matthew A.
Wydane w PLoS Genet (2018)

HLA and KIR Associations of Cervical Neoplasia

od Bao, Xiao, Hanson, Aimee L, Madeleine, Margaret M, Wang, Sophia S, Schwartz, Stephen M, Newell, Felicity, Pettersson-Kymmer, Ulrika, Hemminki, Kari, Tiews, Sven, Steinberg, Winfried, Rader, Janet S, Castro, Felipe, Safaeian, Mahboobeh, Franco, Eduardo L, Coutlée, François, Ohlsson, Claes, Cortes, Adrian, Marshall, Mhairi, Mukhopadhyay, Pamela, Cremin, Katie, Johnson, Lisa G, Garland, Suzanne M, Tabrizi, Sepehr N, Wentzensen, Nicolas, Sitas, Freddy, Trimble, Cornelia, Little, Julian, Cruickshank, Maggie, Frazer, Ian H, Hildesheim, Allan, Brown, Matthew A, Duncan, Emma L, Sun, Ying Pu, Leo, Paul J
Wydane w J Infect Dis (2018)

Identification of a novel FGFRL1 MicroRNA target site polymorphism for bone mineral density in meta-analyses of genome-wide association studies

od Niu, Tianhua, Liu, Ning, Zhao, Ming, Xie, Guie, Zhang, Lei, Li, Jian, Pei, Yu-Fang, Shen, Hui, Fu, Xiaoying, He, Hao, Lu, Shan, Chen, Xiang-Ding, Tan, Li-Jun, Yang, Tie-Lin, Guo, Yan, Leo, Paul J., Duncan, Emma L., Shen, Jie, Guo, Yan-Fang, Nicholson, Geoffrey C., Prince, Richard L., Eisman, John A., Jones, Graeme, Sambrook, Philip N., Hu, Xiang, Das, Partha M., Tian, Qing, Zhu, Xue-Zhen, Papasian, Christopher J., Brown, Matthew A., Uitterlinden, André G., Wang, Yu-Ping, Xiang, Shuanglin, Deng, Hong-Wen
Wydane w Hum Mol Genet (2015)

Identification of IDUA and WNT16 Phosphorylation-Related Non-Synonymous Polymorphisms for Bone Mineral Density in Meta-Analyses of Genome-Wide Association Studies

od Niu, Tianhua, Liu, Ning, Yu, Xun, Zhao, Ming, Choi, Hyung Jin, Leo, Paul J., Brown, Matthew A., Zhang, Lei, Pei, Yu-Fang, Shen, Hui, He, Hao, Fu, Xiaoying, Lu, Shan, Chen, Xiang-Ding, Tan, Li-Jun, Yang, Tie-Lin, Guo, Yan, Cho, Nam H., Shen, Jie, Guo, Yan-Fang, Nicholson, Geoffrey C., Prince, Richard L., Eisman, John A., Jones, Graeme, Sambrook, Philip N., Tian, Qing, Zhu, Xue-Zhen, Papasian, Christopher J., Duncan, Emma L., Uitterlinden, André G., Shin, Chan Soo, Xiang, Shuanglin, Deng, Hong-Wen
Wydane w J Bone Miner Res (2015)

Mutations in the Gene Encoding IFT Dynein Complex Component WDR34 Cause Jeune Asphyxiating Thoracic Dystrophy

od Schmidts, Miriam, Vodopiutz, Julia, Christou-Savina, Sonia, Cortés, Claudio R., McInerney-Leo, Aideen M., Emes, Richard D., Arts, Heleen H., Tüysüz, Beyhan, D’Silva, Jason, Leo, Paul J., Giles, Tom C., Oud, Machteld M., Harris, Jessica A., Koopmans, Marije, Marshall, Mhairi, Elçioglu, Nursel, Kuechler, Alma, Bockenhauer, Detlef, Moore, Anthony T., Wilson, Louise C., Janecke, Andreas R., Hurles, Matthew E., Emmet, Warren, Gardiner, Brooke, Streubel, Berthold, Dopita, Belinda, Zankl, Andreas, Kayserili, Hülya, Scambler, Peter J., Brown, Matthew A., Beales, Philip L., Wicking, Carol, Duncan, Emma L., Mitchison, Hannah M.
Wydane 2013

Whole-exome sequencing in amyotrophic lateral sclerosis suggests NEK1 is a risk gene in Chinese

od Gratten, Jacob, Zhao, Qiongyi, Benyamin, Beben, Garton, Fleur, He, Ji, Leo, Paul J., Mangelsdorf, Marie, Anderson, Lisa, Zhang, Zong-Hong, Chen, Lu, Chen, Xiang-Ding, Cremin, Katie, Deng, Hong-Weng, Edson, Janette, Han, Ying-Ying, Harris, Jessica, Henders, Anjali K., Jin, Zi-Bing, Li, Zhongshan, Lin, Yong, Liu, Xiaolu, Marshall, Mhairi, Mowry, Bryan J., Ran, Shu, Reutens, David C., Song, Sharon, Tan, Li-Jun, Tang, Lu, Wallace, Robyn H., Wheeler, Lawrie, Wu, Jinyu, Yang, Jian, Xu, Huji, Visscher, Peter M., Bartlett, Perry F., Brown, Matthew A., Wray, Naomi R., Fan, Dongsheng
Wydane w Genome Med (2017)