Associations of autozygosity with a broad range of human phenotypes
Mason, Dan, Pirastu, Nicola, Gandin, Ilaria, Lin, Kuang, Deelen, Patrick, Schurmann, Claudia, Baumbach, Clemens, Fuchsberger, Christian, Gao, He, Jia, Yucheng, van der Most, Peter J, Priyanka, Tallapragada Divya Sri, Salvi, Erika, Smart, Melissa C, Spracklen, Cassandra N, Verweij, Niek, Warren, Helen R, Yousri, Noha A, Zhao, Wei, Borja, Judith B, Bottinger, Erwin P, Broer, Linda, Concas, Maria Pina, Damulina, Anna, Daneshpour, Maryam S, Delgado, Graciela E, Freedman, Barry I, Goel, Anuj, Goodarzi, Mark O, Graff, Mariaelisa, Grodstein, Francine, Guo, Yu, Halevy, Avner, Höfer, Imo, Huang, Jinyan, Kanai, Masahiro, Kessler, Thorsten, Khor, Chiea Chuen, Kutalik, Zoltán, Launer, Lenore J, Lerch, Markus M, London, Stephanie J, Loomis, Stephanie, Luan, Jian’an, Manichaikul, Ani W, Meitinger, Thomas, Milani, Lili, Millwood, Iona Y, Ong, Ken K, Orozco, Lorena, Pattaro, Cristian, Pattie, Alison, Räikkönen, Katri, Ralhan, Sarju, van Rooij, Frank J A, Sabanayagam, Charumathi, van Setten, Jessica, Sever, Peter J, Shi, Yuan, Shrestha, Smeeta, Starr, John M, Tham, Yih-Chung, Tillander, Annika, Yuan, Jian-Min, Zhang, Liang, Bennett, David A, van den Berg, Leonard H, Berndt, Sonja I, Bielak, Lawrence F, Bouchard, Claude, Bradfield, Jonathan P, Brody, Jennifer A, Caulfield, Mark J, Cesarini, David, Eriksson, Johan G, Feitosa, Mary, Gieger, Christian, Goyette, Philippe, Gyllensten, Ulf, Hakonarson, Hakon, Hunt, Steven C, Jaddoe, Vincent W V, Karpe, Fredrik, März, Winfried, McCarthy, Mark I, Metspalu, Andres, Oldehinkel, Albertine J, Palmas, Walter, Pasterkamp, Gerard G, Porteous, David J, Rotimi, Charles, Sanghera, Dharambir K, Toniolo, Daniela, Wang, Carol A, Magnusson, Patrik K. E., Uitterlinden, André G, Franceschini, Nora, Hayward, Caroline, Walters, Robin G, Perry, John R. B.
Published in Nature communications (31.10.2019)
Published in Nature communications (31.10.2019)
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Mendelian randomisation analysis strongly implicates adiposity with risk of developing colorectal cancer
Jarvis, David, Mitchell, Jonathan S, Law, Philip J, Palin, Kimmo, Tuupanen, Sari, Gylfe, Alexandra, Hänninen, Ulrika A, Cajuso, Tatiana, Tanskanen, Tomas, Kondelin, Johanna, Kaasinen, Eevi, Sarin, Antti-Pekka, Kaprio, Jaakko, Eriksson, Johan G, Rissanen, Harri, Knekt, Paul, Pukkala, Eero, Jousilahti, Pekka, Salomaa, Veikko, Ripatti, Samuli, Palotie, Aarno, Järvinen, Heikki, Renkonen-Sinisalo, Laura, Lepistö, Anna, Böhm, Jan, Meklin, Jukka-Pekka, Al-Tassan, Nada A, Palles, Claire, Martin, Lynn, Barclay, Ella, Farrington, Susan M, Timofeeva, Maria N, Meyer, Brian F, Wakil, Salma M, Campbell, Harry, Smith, Christopher G, Idziaszczyk, Shelley, Maughan, Timothy S, Kaplan, Richard, Kerr, Rachel, Kerr, David, Buchanan, Daniel D, Win, Aung K, Hopper, John L, Jenkins, Mark A, Lindor, Noralane M, Newcomb, Polly A, Gallinger, Steve, Conti, David, Schumacher, Fred, Casey, Graham, Taipale, Jussi, Aaltonen, Lauri A, Cheadle, Jeremy P, Dunlop, Malcolm G, Tomlinson, Ian P, Houlston, Richard S
Published in British journal of cancer (12.07.2016)
Published in British journal of cancer (12.07.2016)
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Genome‐wide association study and meta‐analysis in Northern European populations replicate multiple colorectal cancer risk loci
Tanskanen, Tomas, van den Berg, Linda, Välimäki, Niko, Aavikko, Mervi, Ness‐Jensen, Eivind, Hveem, Kristian, Wettergren, Yvonne, Bexe Lindskog, Elinor, Tõnisson, Neeme, Metspalu, Andres, Silander, Kaisa, Orlando, Giulia, Law, Philip J., Tuupanen, Sari, Gylfe, Alexandra E., Hänninen, Ulrika A., Cajuso, Tatiana, Kondelin, Johanna, Sarin, Antti‐Pekka, Pukkala, Eero, Jousilahti, Pekka, Salomaa, Veikko, Ripatti, Samuli, Palotie, Aarno, Järvinen, Heikki, Renkonen‐Sinisalo, Laura, Lepistö, Anna, Böhm, Jan, Mecklin, Jukka‐Pekka, Al‐Tassan, Nada A., Palles, Claire, Martin, Lynn, Barclay, Ella, Tenesa, Albert, Farrington, Susan M., Timofeeva, Maria N., Meyer, Brian F., Wakil, Salma M., Campbell, Harry, Smith, Christopher G., Idziaszczyk, Shelley, Maughan, Tim S., Kaplan, Richard, Kerr, Rachel, Kerr, David, Buchanan, Daniel D., Win, Aung K., Hopper, John, Jenkins, Mark A., Newcomb, Polly A., Gallinger, Steve, Conti, David, Schumacher, Fredrick R., Casey, Graham, Cheadle, Jeremy P., Dunlop, Malcolm G., Tomlinson, Ian P., Houlston, Richard S., Palin, Kimmo, Aaltonen, Lauri A.
Published in International journal of cancer (01.02.2018)
Published in International journal of cancer (01.02.2018)
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Variation at 2q35 (PNKD and TMBIM1) influences colorectal cancer risk and identifies a pleiotropic effect with inflammatory bowel disease
Orlando, Giulia, Law, Philip J, Palin, Kimmo, Tuupanen, Sari, Gylfe, Alexandra, Hänninen, Ulrika A, Cajuso, Tatiana, Tanskanen, Tomas, Kondelin, Johanna, Kaasinen, Eevi, Sarin, Antti-Pekka, Kaprio, Jaakko, Eriksson, Johan G, Rissanen, Harri, Knekt, Paul, Pukkala, Eero, Jousilahti, Pekka, Salomaa, Veikko, Ripatti, Samuli, Palotie, Aarno, Järvinen, Heikki, Renkonen-Sinisalo, Laura, Lepistö, Anna, Böhm, Jan, Mecklin, Jukka-Pekka, Al-Tassan, Nada A, Palles, Claire, Martin, Lynn, Barclay, Ella, Tenesa, Albert, Farrington, Susan, Timofeeva, Maria N, Meyer, Brian F, Wakil, Salma M, Campbell, Harry, Smith, Christopher G, Idziaszczyk, Shelley, Maughan, Timothy S, Kaplan, Richard, Kerr, Rachel, Kerr, David, Buchanan, Daniel D, Win, Aung Ko, Hopper, John, Jenkins, Mark, Lindor, Noralane M, Newcomb, Polly A, Gallinger, Steve, Conti, David, Schumacher, Fred, Casey, Graham, Taipale, Jussi, Cheadle, Jeremy P, Dunlop, Malcolm G, Tomlinson, Ian P, Aaltonen, Lauri A, Houlston, Richard S
Published in Human molecular genetics (01.06.2016)
Published in Human molecular genetics (01.06.2016)
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Novel B4GALNT1 mutations in a complicated form of hereditary spastic paraplegia
Wakil, S.M., Monies, D.M., Ramzan, K., Hagos, S., Bastaki, L., Meyer, B.F., Bohlega, S.
Published in Clinical genetics (01.11.2014)
Published in Clinical genetics (01.11.2014)
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Meta-analysis of genome-wide association studies identifies common susceptibility polymorphisms for colorectal and endometrial cancer near SH2B3 and TSHZ1
Cheng, Timothy HT, Painter, Jodie, O’Mara, Tracy, Gorman, Maggie, Martin, Lynn, Palles, Claire, Jones, Angela, Buchanan, Daniel D., Win, Aung Ko, Hopper, John, Jenkins, Mark, Lindor, Noralane M., Newcomb, Polly A., Gallinger, Steve, Conti, David, Schumacher, Fred, Casey, Graham, Giles, Graham G, Pharoah, Paul, Peto, Julian, Cox, Angela, Swerdlow, Anthony, Couch, Fergus, Cunningham, Julie M, Goode, Ellen L, Winham, Stacey J, Lambrechts, Diether, Fasching, Peter, Burwinkel, Barbara, Brenner, Hermann, Brauch, Hiltrud, Chang-Claude, Jenny, Salvesen, Helga B., Kristensen, Vessela, Darabi, Hatef, Li, Jingmei, Liu, Tao, Lindblom, Annika, Hall, Per, de Polanco, Magdalena Echeverry, Sans, Monica, Carracedo, Angel, Castellvi-Bel, Sergi, Rojas-Martinez, Augusto, Aguiar Jnr, Samuel, Teixeira, Manuel R., Dunning, Alison M, Dennis, Joe, Otton, Geoffrey, Proietto, Tony, Holliday, Elizabeth, Attia, John, Ashton, Katie, Scott, Rodney J, McEvoy, Mark, Dowdy, Sean C, Fridley, Brooke L, Werner, Henrica MJ, Trovik, Jone, Njolstad, Tormund S, Tham, Emma, Mints, Miriam, Runnebaum, Ingo, Hillemanns, Peter, Dörk, Thilo, Amant, Frederic, Schrauwen, Stefanie, Hein, Alexander, Beckmann, Matthias W, Ekici, Arif, Czene, Kamila, Meindl, Alfons, Bolla, Manjeet K, Michailidou, Kyriaki, Tyrer, Jonathan P, Wang, Qin, Ahmed, Shahana, Healey, Catherine S, Shah, Mitul, Annibali, Daniela, Depreeuw, Jeroen, Al-Tassan, Nada A., Harris, Rebecca, Meyer, Brian F., Whiffin, Nicola, Hosking, Fay J, Kinnersley, Ben, Farrington, Susan M., Timofeeva, Maria, Tenesa, Albert, Campbell, Harry, Haile, Robert W., Hodgson, Shirley, Carvajal-Carmona, Luis, Cheadle, Jeremy P., Easton, Douglas, Dunlop, Malcolm, Houlston, Richard, Spurdle, Amanda, Tomlinson, Ian
Published in Scientific reports (01.12.2015)
Published in Scientific reports (01.12.2015)
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A common variant association study in ethnic Saudi Arabs reveals novel susceptibility loci for hypertriglyceridemia
Ram, R., Wakil, S.M., Muiya, N.P., Andres, E., Mazhar, N., Hagos, S., Alshahid, M., Meyer, B.F., Morahan, G., Dzimiri, N.
Published in Clinical genetics (01.03.2017)
Published in Clinical genetics (01.03.2017)
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Journal Article
The T/G−13915 variant upstream of the lactase gene (LCT) is the founder allele of lactase persistence in an urban Saudi population
Imtiaz, F, Savilahti, E, Sarnesto, A, Trabzuni, D, Al-Kahtani, K, Kagevi, I, Rashed, M S, Meyer, B F, Järvelä, I
Published in Journal of medical genetics (01.10.2007)
Published in Journal of medical genetics (01.10.2007)
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TSH overcomes BrafV600E-induced senescence to promote tumor progression via downregulation of p53 expression in papillary thyroid cancer
Zou, M, Baitei, E Y, Al-Rijjal, R A, Parhar, R S, Al-Mohanna, F A, Kimura, S, Pritchard, C, Binessa, H A, Alzahrani, A S, Al-Khalaf, H H, Hawwari, A, Akhtar, M, Assiri, A M, Meyer, B F, Shi, Y
Published in Oncogene (14.04.2016)
Published in Oncogene (14.04.2016)
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Mutation of TBCE causes hypoparathyroidism- retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome
Parvari, Ruti, Hershkovitz, Eli, Grossman, Nili, Gorodischer, Rafael, Loeys, Bart, Zecic, Alexandra, Mortier, Geert, Gregory, Simon, Sharony, Reuven, Kambouris, Marios, Sakati, Nadia, Meyer, Brian F, Al Aqeel, Aida I, Al Humaidan, Abdul Karim, Al Zanhrani, Fatma, Al Swaid, Abdulrahman, Al Othman, Johara, Diaz, George A, Weiner, Rory, Khan, K Tahseen S, Gordon, Ronald, Gelb, Bruce D
Published in Nature genetics (01.11.2002)
Published in Nature genetics (01.11.2002)
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Mutation of the matrix metalloproteinase 2 gene ( MMP2 ) causes a multicentric osteolysis and arthritis syndrome
Martignetti, John A, Aqeel, Aida Al, Sewairi, Wafaa Al, Boumah, Christine E, Kambouris, Marios, Mayouf, S. Al, Sheth, K.V, Eid, W. Al, Dowling, Oonagh, Harris, Juliette, Glucksman, Marc J, Bahabri, Sultan, Meyer, Brian F, Desnick, Robert J
Published in Nature genetics (01.07.2001)
Published in Nature genetics (01.07.2001)
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RAGE-mediated neutrophil dysfunction is evoked by advanced glycation end products (AGEs)
Collison, Kate S., Parhar, Ranjit S., Saleh, Soad S., Meyer, Brian F., Kwaasi, Aaron A., Hammami, Muhammad M., Schmidt, Ann Marie, Stern, David M., Al‐Mohanna, Futwan A.
Published in Journal of leukocyte biology (01.03.2002)
Published in Journal of leukocyte biology (01.03.2002)
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Journal Article
Mutation of the slow myosin heavy chain rod domain underlies hyaline body myopathy
Bohlega, S, Abu-Amero, S N, Wakil, S M, Carroll, P, Al-Amr, R, Lach, B, Al-Sayed, Y, Cupler, E J, Meyer, B F
Published in Neurology (11.05.2004)
Published in Neurology (11.05.2004)
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Journal Article
Autosomal dominant hyaline body myopathy: clinical variability and pathologic findings
Bohlega, S, Lach, B, Meyer, B F, Al Said, Y, Kambouris, M, Al Homsi, M, Cupler, E J
Published in Neurology (09.12.2003)
Published in Neurology (09.12.2003)
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Journal Article
A novel form of autosomal recessive pure hereditary spastic paraplegia maps to chromosome 13q14
Hodgkinson, C A, Bohlega, S, Abu-Amero, S N, Cupler, E, Kambouris, M, Meyer, B F, Bharucha, V A
Published in Neurology (24.12.2002)
Published in Neurology (24.12.2002)
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Identification of a common novel mutation in Saudi patients with argininosuccinic aciduria
Al‐Sayed, M., AlAhmed, S., Alsmadi, O., Khalil, H., Rashed, M. S., Imtiaz, F., Meyer, B. F.
Published in Journal of inherited metabolic disease (01.12.2005)
Published in Journal of inherited metabolic disease (01.12.2005)
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Journal Article
Identification of novel mutations in Arabs with cystic fibrosis and their impact on the cystic fibrosis transmembrane regulator mutation detection rate in Arab populations
KAMBOURIS, M, BANJAR, H, MOGGARI, I, NAZER, H, AL-HAMED, M, MEYER, B. F
Published in European journal of pediatrics (01.05.2000)
Published in European journal of pediatrics (01.05.2000)
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