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Article

Leigh, P. Nigel and et al, (2016) Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis. Nature Genetics, 48 (9). pp. 1043-1048. ISSN 1061-4036

Kenna, Kevin P, Doormaal, Perry, Dekker, Annelot, Ticozzi, Nicola, Kenna, Brendan, Diekstra, Frank, van Rheenen, Wouter, Leigh, P Nigel and et al, (2016) NEK1 variants confer susceptibility to amyotrophic lateral sclerosis. Nature Genetics, 48 (9). pp. 1037-1042. ISSN 1061-4036

Ottolini, Christian S, Newnham, Louise J, Capalbo, Antonio, Natesan, Senthilkumar A, Joshi, Hrishikesh A, Cimadomo, Danilo, Griffin, Darren K, Sage, Karen, Summers, Michael C, Thornhill, Alan R, Housworth, Elizabeth, Herbert, Alex D, Rienzi, Laura, Ubaldi, Filippo M, Handyside, Alan H and Hoffmann, Eva R (2015) Genome-wide maps of recombination and chromosome segregation in human oocytes and embryos show selection for maternal recombination rates. Nature Genetics, 47. pp. 727-735. ISSN 1061-4036

Gomez Herreros, Fernando, Schuurs-Hoeijmakers, Janneke H M, McCormack, Mark, Greally, Marie T, Rulten, Stuart, Romero-Granados, Rocio, Counihan, Timothy J, Chaila, Elijah, Conroy, Judith, Ennis, Sean, Delanty, Norman, Cortes-Ledesma, Felipe, de Brouwer, Arjan P M, Cavalleri, Gianpiero L, El-Khamisy, Sherif F, de Vries, Bert B A and Caldecott, Keith (2014) TDP2 protects transcription from abortive topoisomerase activity and is required for normal neural function. Nature Genetics, 46 (5). pp. 516-524. ISSN 1061-4036

Rivière, Jean-Baptiste, Mirzaa, Ghayda M, O'Roak, Brian J, Beddaoui, Margaret, Alcantara, Diana, Conway, Robert L, St-Onge, Judith, Schwartzentruber, Jeremy A, Gripp, Karen W, Nikkel, Sarah M, Worthylake, Thea, Sullivan, Christopher T, Ward, Thomas R, Butler, Hailly E, Kramer, Nancy A, Albrecht, Beate, Armour, Christine M, Armstrong, Linlea, Caluseriu, Oana, Cytrynbaum, Cheryl, Drolet, Beth A, Innes, A Micheil, Lauzon, Julie L, Lin, Angela E, Mancini, Grazia M S, Meschino, Wendy S, Reggin, James D, Saggar, Anand K, Lerman-Sagie, Tally, Uyanik, Gökhan, Weksberg, Rosanna, Zirn, Birgit, Beaulieu, Chandree L, (FORGE):, Finding of Rare Disease Genes Canada Consortium, Majewski, Jacek, Bulman, Dennis E, O'Driscoll, Mark, Shendure, Jay, Graham Jr, John M, Boycott, Kym M and Dobyns, William B (2012) De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes. Nature Genetics, 44 (8). pp. 934-940. ISSN 1546-1718

Nakazawa, Yuka, Sasaki, Kensaku, Mitsutake, Norisato, Matsuse, Michiko, Shimada, Mayuko, Nardo, Tiziana, Takahashi, Yoshito, Ohyama, Kaname Ohyama, Ito, Kosei, Mishima, Hiroyuki, Nomura, Masayo, Kinoshita, Akira, Ono, Shinji, Takenaka, Katsuya, Masuyama, Ritsuko, Kudo, Takashi, Slor, Hanoch, Utani, Atsushi, Tateishi, Satoshi, Yamashita, Shunichi, Stefanini, Miria, Lehmann, Alan R, Yoshiura, Koh-ichiro and Ogi, Tomoo (2012) Mutations in UVSSA cause UV-sensitive syndrome and impair RNA polymerase IIo processing in transcription-coupled nucleotide-excision repair. Nature Genetics, 44 (5). pp. 586-592. ISSN 1061-4036

Thye, T, Owusu-Dabo, E, Vannberg, F, Crevel, R, Curtis, James, Sahiratmadja, E, Balabanova, Y, Ehmen, C, Muntau, B, Ruge, G, Sieversten, J, Gyapong, J, Nikolayevskyy, V, Hill, P, Sirugo, G, Drobniewski, F, Van de Vosse, E, Newport, Melanie, Alisjahbana, B, Nejentsev, S, Ottenhoff, T, Hill, Adrian V S, Horstmann, R and Meyer, C (2012) Common variants at 11p13 are associated with susceptibility to tuberculosis. Nature Genetics, 44 (3). pp. 257-259. ISSN 1061-4036

Bicknell, Louise S, Walker, Sarah, Klingseisen, Anna, Stiff, Tom, Leitch, Andrea, Kerzendorfer, Claudia, Martin, Carol-Anne, Yeyati, Patricia, Al Sanna, Nouriya, Bober, Michael, Johnson, Diana, Wise, Carol, Jackson, Andrew P, O'Driscoll, Mark and Jeggo, Penny A (2011) Mutations in ORC1, encoding the largest subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndrome. Nature Genetics, 43 (4). pp. 350-355. ISSN 1061-4036

Gaysina, Darya and et al., (2011) Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function. Nature Genetics, 43 (11). pp. 1082-1090. ISSN 1061-4036

Thye, Thorsten, Vannberg, Fredrik O., Wong, Sunny H., Owusu-Dabo, Ellis, Osei, Ivy, Gyapong, John, Sirugo, Giorgio, Sisay-Joof, Fatou, Enimil, Anthony, Chinbuah, Margaret A., Floyd, Sian, Warndorff, David K., Sichali, Lifted, Malema, Simon, Crampin, Amelia C., Ngwira, Bagrey, Teo, Yik Y., Small, Kerrin, Rockett, Kirk, Kwiatkowski, Dominic, Fine, Paul E., Hill, Philip C., Newport, Melanie J., Lienhardt, Christian, Adegbola, Richard A., Corrah, Tumani, Ziegler, Andreas, Morris, Andrew P., Meyer, Christian G., Horstmann, Rolf D. and Hill, Adrian V. S. (2010) Genome-wide association analyses identifies a susceptibility locus for tuberculosis on chromosome 18q11.2. Nature Genetics, 42 (9). pp. 739-741. ISSN 1061-4036

Shen, Jun, Gilmore, Edward C, Marshall, Christine A, Haddadin, Mary, Reynolds, John J, Eyaid, Wafaa, Bodell, Adria, Barry, Brenda, Gleason, Danielle, Allen, Kathryn, Ganesh, Vijay S, Chang, Bernard S, Grix, Arthur, Hill, R Sean, Topcu, Meral, Caldecott, Keith W, Barkovich, A James and Walsh, Christopher A (2010) Mutations in PNKP cause microcephaly, seizures and defects in DNA repair. Nature Genetics, 42 (3). 245-U38. ISSN 1061-4036

van Es, Michael A, Leigh, P Nigel and et al, (2009) Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis. Nature Genetics, 41 (10). pp. 1083-7. ISSN 1061-4036

O'Driscoll, Mark (2009) Life can be stressful without ATR. Nature Genetics, 41 (8). pp. 866-888. ISSN 10614036

Jallow, Muminatou, Teo, Yik Ying, Small, Kerrin S, Rockett, Kirk A, Deloukas, Panos, Clark, Taane G, Kivinen, Katja, Bojang, Kalifa A, Conway, David J, Pinder, Margaret, Sirugo, Giorgio, Sisay-Joof, Fatou, Usen, Stanley, Auburn, Sarah, Bumpstead, Suzannah J, Campino, Susana, Coffey, Alison, Dunham, Andrew, Fry, Andrew E, Green, Angela, Gwilliam, Rhian, Hunt, Sarah E, Inouye, Michael, Jeffreys, Anna E, Mendy, Alieu, Palotie, Aarno, Potter, Simon, Ragoussis, Jiannis, Rogers, Jane, Rowlands, Kate, Somaskantharajah, Elilan, Whittaker, Pamela, Widden, Claire, Donnelly, Peter, Howie, Bryan, Marchini, Jonathan, Morris, Andrew, SanJoaquin, Miguel, Achidi, Eric Akum, Agbenyega, Tsiri, Allen, Angela, Amodu, Olukemi, Corran, Patrick, Djimde, Abdoulaye, Dolo, Amagana, Doumbo, Ogobara K, Drakeley, Chris, Dunstan, Sarah, Evans, Jennifer, Farrar, Jeremy, Fernando, Deepika, Hien, Tran Tinh, Horstmann, Rolf D, Ibrahim, Muntaser, Karunaweera, Nadira, Kokwaro, Gilbert, Koram, Kwadwo A, Lemnge, Martha, Makani, Julie, Marsh, Kevin, Michon, Pascal, Modiano, David, Molyneux, Malcolm E, Mueller, Ivo, Parker, Michael, Peshu, Norbert, Plowe, Christopher V, Puijalon, Odile, Reeder, John, Reyburn, Hugh, Riley, Eleanor M, Sakuntabhai, Anavaj, Singhasivanon, Pratap, Sirima, Sodiomon, Tall, Adama, Taylor, Terrie E, Thera, Mahamadou, Troye-Blomberg, Marita, Williams, Thomas N, Wilson, Michael, Kwiatkowski, Dominic P, Wellcome Trust Case Control Consortium & Malaria Genomic Epidemi, and Newport, Melanie (2009) Genome-wide and fine-resolution association analysis of malaria in West Africa. Nature Genetics, 41 (6). pp. 657-665. ISSN 1061-4036

O'Driscoll, M (2009) Life can be stressful without ATR. Nature Genetics, 41 (8). ISSN 1061-4036

Griffith, Elen, Walker, Sarah, Martin, Carol-Anne, Vagnarelli, Paola, Stiff, Tom, Vernay, Bertrand, Al Sanna, Nouriya, Saggar, Anand, Hamel, Ben, Earnshaw, William C, Jeggo, Penny A, Jackson, Andrew P and O'Driscoll, Mark (2008) Mutations in pericentrin cause Seckel syndrome with defective ATR-dependent DNA damage signaling. Nature Genetics, 40 (2). pp. 232-235. ISSN 1061-4036

Griffith, E., Walker, S., Martin, C.A., Vagnarelli, P., Stiff, T., Vernay, B., Al Sanna, N., Saggar, A., Hamel, B., Earnshaw, W.C., Jeggo, P.A., Jackson, A.P. and O'Driscoll, M. (2008) Mutations in pericentrin cause Seckel syndrome with defective ATR-dependent DNA damage signaling. Nature Genetics, 40 (2). pp. 232-236. ISSN 1061-4036

Griffith, E, Walker, Sarah, Stiff, Thomas, Martin, C-A, Vagnarelli, P, Vernay, B, Sanna, N.A, Saggar, A, Hamel, B, Earnshaw, W.C, Jeggo, Penny, Jackson, A.P and O'Driscoll, Mark (2008) Mutations in pericentrin cause Seckel syndrome with defective ATR-dependent DNA damage signaling. Nature Genetics, 40 (2). pp. 232-236. ISSN 10614036

Griffith, E., Walker, S., Martin, C.A., Vagnarelli, P., Stiff, T., Vernay, B., Al Sanna, A., Saggar, A., Hamel, B., Earnshaw, W.C., Jeggo, P.A., Jackson, A.P. and O'Driscoll, M. (2007) Mutations in pericentrin cause Seckel syndrome with defective ATR-dependent DNA damage signaling. Nature Genetics, 40 (2). pp. 232-236. ISSN 1546-1718 (Electronic)

Williamson, Christine M, Turner, Martin D, Ball, Simon T, Nottingham, Wade T, Glenister, Peter, Fray, Martin, Tymowska-Lalanne, Zuzanna, Plagge, Antonius, Powles-Glover, Nicola, Kelsey, Gavin, Maconochie, Mark and Peters, Jo (2006) Identification of an imprinting control region affecting the expression of all transcripts in the Gnas cluster. Nature Genetics, 38. pp. 350-355. ISSN 1061-4036

Williamson, Christine M, Ball, Simon T, Nottingham, Wade T, Skinner, Judith A, Plagge, Antonius, Turner, Martin D, Powles, Nicola, Hough, Tertius, Papworth, David, Fraser, William D, Maconochie, Mark and Peters, Jo (2004) A cis-acting control region is required exclusively for the tissue-specific imprinting of Gnas. Nature Genetics, 36. pp. 894-899. ISSN 1061-4036

O'Driscoll, Mark, Ruiz-Perez, Victor L, Woods, C Geoffrey, Jeggo, Penny A and Goodship, Judith A (2003) A splicing mutation affecting expression of ataxia-telangiectasia and Rad3-related protein (ATR) results in Seckel syndrome. Nature Genetics, 33. pp. 497-501. ISSN 1061-4036

O'Driscoll, M., Ruiz-Perez, V. L., Woods, C. G., Jeggo, P. A. and Goodship, J. A. (2003) A splicing mutation affecting expression of ataxia-telangiectasia and Rad3-related protein (ATR) results in Seckel syndrome. Nature Genetics, 33. pp. 497-501. ISSN 1061-4036

O'Driscoll, M, Ruiz-Peres, V L, Woods, C G, Jeggo, P A and Goodship, J A (2003) A splicing mutation affecting expression of ataxia-telangiectasis and Rad3-related protein (ATR) results in Seckel syndrome. Nature Genetics, 33. pp. 497-501.

Beck, J A, Lloyd, S, Hafezparast, M, Lennon-Piece, M, Eppig, J T, Festing, M F and Fisher, E M (2000) Genealogies of mouse inbred strains. Nature Genetics, 24 (1). pp. 23-25. ISSN 1061-4036

Van Laer, Lut, Huizing, Egbert H, Verstreken, Margriet, van Zuijlen, Diederick, Wauters, Jan G, Bossuyt, Paul J, Van de Heyning, Paul, McGuirt, Wyman T, Smith, Richard J H, Willems, Patrick J, Legan, P Kevin, Richardson, Guy P and Van Camp, Guy (1998) Nonsyndromic hearing impairment is associated with a mutation in DFNA5. Nature Genetics, 20 (2). pp. 194-7.

Verhoeven, Kristien, Van Laer, Lut, Kirschhofer, Karin, Legan, P Kevin, Hughes, David C, Schatteman, Isabelle, Verstreken, Margriet, Van Hauwe, Peter Van, Coucke, Paul, Chen, Achih, Smith, Richard J H, Somers, Thomas, Offeciers, F Erwin, Van de Heyning, Paul, Richardson, Guy P, Wachtler, Franz, Kimberling, William J, Willems, Patrick J, Govaerts, Paul J and Van Camp, Guy (1998) Mutations in the human a-tectorin gene cause autosomal dominant non- syndromic hearing impairment. Nature Genetics, 19 (1). pp. 60-62. ISSN 10614036

This list was generated on Tue Apr 25 00:03:04 2017 BST.