Genotype-phenotype correlations in hyperekplexia: apnoeas, learning difficulties and speech delay by Thomas, Rhys H., Chung, Seo-Kyung, Wood, Sian E., Cushion, Thomas D., Drew, Cheney J. G., Hammond, Carrie L., Vanbellinghen, Jean-Francois, Mullins, Jonathan G. L., Rees, Mark I.

Get full text

Genotype-phenotype correlations in hyperekplexia: apnoeas, learning difficulties and speech delay by THOMAS, Rhys H, CHUNG, Seo-Kyung, WOOD, Sian E, CUSHION, Thomas D, DREW, Cheney J. G, HAMMOND, Carrie L, VANBELLINGHEN, Jean-Francois, MULLINS, Jonathan G. L, REES, Mark I

Get full text

Harmonizing model organism data in the Alliance of Genome Resources by Agapite, Julie, Albou, Laurent-Philippe, Aleksander, Suzanne A, Alexander, Micheal, Anagnostopoulos, Anna V, Antonazzo, Giulia, Argasinska, Joanna, Arnaboldi, Valerio, Attrill, Helen, Becerra, Andrés, Bello, Susan M, Blake, Judith A, Blodgett, Olin, Bradford, Yvonne M, Bult, Carol J, Cain, Scott, Calvi, Brian R, Carbon, Seth, Chan, Juancarlos, Chen, Wen J, Michael Cherry, J, Cho, Jaehyoung, Christie, Karen R, Crosby, Madeline A, Davis, Paul, da Veiga Beltrame, Eduardo, De Pons, Jeffrey L, D’Eustachio, Peter, Diamantakis, Stavros, Dolan, Mary E, dos Santos, Gilberto, Douglass, Eric, Dunn, Barbara, Eagle, Anne, Ebert, Dustin, Engel, Stacia R, Fashena, David, Foley, Saoirse, Frazer, Ken, Gao, Sibyl, Gibson, Adam C, Gondwe, Felix, Goodman, Josh, Sian Gramates, L, Grove, Christian A, Hale, Paul, Harris, Todd, Thomas Hayman, G, Hill, David P, Howe, Douglas G, Howe, Kevin L, Hu, Yanhui, Jha, Sagar, Kadin, James A, Kaufman, Thomas C, Kalita, Patrick, Karra, Kalpana, Kishore, Ranjana, Kwitek, Anne E, Laulederkind, Stanley J F, Lee, Raymond, Longden, Ian, Luypaert, Manuel, MacPherson, Kevin A, Martin, Ryan, Marygold, Steven J, Matthews, Beverley, McAndrews, Monica S, Millburn, Gillian, Miyasato, Stuart, Motenko, Howie, Moxon, Sierra, Muller, Hans-Michael, Mungall, Christopher J, Muruganujan, Anushya, Mushayahama, Tremayne, Nalabolu, Harika S, Nash, Robert S, Ng, Patrick, Nuin, Paulo, Paddock, Holly, Paulini, Michael, Perrimon, Norbert, Pich, Christian, Quinton-Tulloch, Mark, Raciti, Daniela, Ramachandran, Sridhar, Richardson, Joel E, Gelbart, Susan Russo, Ruzicka, Leyla, Schaper, Kevin, Schindelman, Gary, Shimoyama, Mary, Simison, Matt, Shaw, David R, Shrivatsav, Ajay, Singer, Amy, Skrzypek, Marek, Smith, Constance M, Smith, Cynthia L

Get full text

High grade serous ovarian carcinomas originate in the fallopian tube by Labidi-Galy, S. Intidhar, Papp, Eniko, Hallberg, Dorothy, Niknafs, Noushin, Adleff, Vilmos, Noe, Michael, Bhattacharya, Rohit, Novak, Marian, Jones, Siân, Phallen, Jillian, Hruban, Carolyn A., Hirsch, Michelle S., Lin, Douglas I., Schwartz, Lauren, Maire, Cecile L., Tille, Jean-Christophe, Bowden, Michaela, Ayhan, Ayse, Wood, Laura D., Scharpf, Robert B., Kurman, Robert, Wang, Tian-Li, Shih, Ie-Ming, Karchin, Rachel, Drapkin, Ronny, Velculescu, Victor E.

Get full text

Mode of birth and risk of infection-related hospitalisation in childhood: A population cohort study of 7.17 million births from 4 high-income countries by Miller, Jessica E, Goldacre, Raphael, Moore, Hannah C, Zeltzer, Justin, Knight, Marian, Morris, Carole, Nowell, Sian, Wood, Rachael, Carter, Kim W, Fathima, Parveen, de Klerk, Nicholas, Strunk, Tobias, Li, Jiong, Nassar, Natasha, Pedersen, Lars H, Burgner, David P

Get full text

A machine learning approach for somatic mutation discovery by Wood, Derrick E, White, James R, Georgiadis, Andrew, Van Emburgh, Beth, Parpart-Li, Sonya, Mitchell, Jason, Anagnostou, Valsamo, Niknafs, Noushin, Karchin, Rachel, Papp, Eniko, McCord, Christine, LoVerso, Peter, Riley, David, Diaz, Jr, Luis A, Jones, Siân, Sausen, Mark, Velculescu, Victor E, Angiuoli, Samuel V

Get full text

Perinatal risks in female cancer survivors: A population-based analysis by van der Kooi, Anne-Lotte L F, Brewster, David H, Wood, Rachael, Nowell, Sian, Fischbacher, Colin, van den Heuvel-Eibrink, Marry M, Laven, Joop S E, Wallace, W Hamish B, Anderson, Richard A

Get full text

Heterogeneity and Classification of Recent Onset Psychosis and Depression: A Multimodal Machine Learning Approach by Lalousis, Paris Alexandros, Wood, Stephen J, Schmaal, Lianne, Chisholm, Katharine, Griffiths, Sian Lowri, Reniers, Renate L E P, Bertolino, Alessandro, Borgwardt, Stefan, Brambilla, Paolo, Kambeitz, Joseph, Lencer, Rebekka, Pantelis, Christos, Ruhrmann, Stephan, Salokangas, Raimo K R, Schultze-Lutter, Frauke, Bonivento, Carolina, Dwyer, Dominic, Ferro, Adele, Haidl, Theresa, Rosen, Marlene, Schmidt, Andre, Meisenzahl, Eva, Koutsouleris, Nikolaos, Upthegrove, Rachel

Get full text

Mutant SOD1 alters the motor neuronal transcriptome: implications for familial ALS by Kirby, Janine, Halligan, Eugene, Baptista, Melisa J., Allen, Simon, Heath, Paul R., Holden, Hazel, Barber, Sian C., Loynes, Catherine A., Wood-Allum, Clare A., Lunec, Joseph, Shaw, Pamela J.

Get full text

Cervical cancer and COVID—an assessment of the initial effect of the pandemic and subsequent projection of impact for women in England: A cohort study by Davies, Jennifer M., Spencer, Alice, Macdonald, Sian, Dobson, Lucy, Haydock, Emily, Burton, Holly, Angelopoulos, Georgios, Martin‐Hirsch, Pierre, Wood, Nick J., Thangavelu, Amudha, Hutson, Richard, Munot, Sarika, Flynn, Marina, Smith, Michael, DeCruze, Bridget, Myriokefalitaki, Eva, Sap, Katelijn, Winter‐Roach, Brett, Macdonald, Robert, Edmondson, Richard J.

Get full text

Genomic analyses of gynaecologic carcinosarcomas reveal frequent mutations in chromatin remodelling genes by Jones, Siân, Stransky, Nicolas, McCord, Christine L., Cerami, Ethan, Lagowski, James, Kelly, Devon, Angiuoli, Samuel V., Sausen, Mark, Kann, Lisa, Shukla, Manish, Makar, Rosemary, Wood, Laura D., Diaz, Luis A., Lengauer, Christoph, Velculescu, Victor E.

Get full text

Neurobiologically Based Stratification of Recent-Onset Depression and Psychosis: Identification of Two Distinct Transdiagnostic Phenotypes by Lalousis, Paris Alexandros, Schmaal, Lianne, Wood, Stephen J., Reniers, Renate L.E.P., Barnes, Nicholas M., Chisholm, Katharine, Griffiths, Sian Lowri, Stainton, Alexandra, Wen, Junhao, Hwang, Gyujoon, Davatzikos, Christos, Wenzel, Julian, Kambeitz-Ilankovic, Lana, Andreou, Christina, Bonivento, Carolina, Dannlowski, Udo, Ferro, Adele, Lichtenstein, Theresa, Riecher-Rössler, Anita, Romer, Georg, Rosen, Marlene, Bertolino, Alessandro, Borgwardt, Stefan, Brambilla, Paolo, Kambeitz, Joseph, Lencer, Rebekka, Pantelis, Christos, Ruhrmann, Stephan, Salokangas, Raimo K.R., Schultze-Lutter, Frauke, Schmidt, André, Meisenzahl, Eva, Koutsouleris, Nikolaos, Dwyer, Dominic, Upthegrove, Rachel

Get full text

Anti-MDA5 autoantibodies in juvenile dermatomyositis identify a distinct clinical phenotype: a prospective cohort study by Tansley, Sarah L, Betteridge, Zoe E, Gunawardena, Harsha, Jacques, Thomas S, Owens, Catherine M, Pilkington, Clarissa, Arnold, Katie, Yasin, Shireena, Moraitis, Elena, Wedderburn, Lucy R, McHugh, Neil J

Get full text

New Hyperekplexia Mutations Provide Insight into Glycine Receptor Assembly, Trafficking, and Activation Mechanisms by Bode, Anna, Wood, Sian-Elin, Mullins, Jonathan G.L., Keramidas, Angelo, Cushion, Thomas D., Thomas, Rhys H., Pickrell, William O., Drew, Cheney J.G., Masri, Amira, Jones, Elizabeth A., Vassallo, Grace, Born, Alfred P., Alehan, Fusun, Aharoni, Sharon, Bannasch, Gerald, Bartsch, Marius, Kara, Bulent, Krause, Amanda, Karam, Elie G., Matta, Stephanie, Jain, Vivek, Mandel, Hanna, Freilinger, Michael, Graham, Gail E., Hobson, Emma, Chatfield, Sue, Vincent-Delorme, Catherine, Rahme, Jubran E., Afawi, Zaid, Berkovic, Samuel F., Howell, Owain W., Vanbellinghen, Jean-François, Rees, Mark I., Chung, Seo-Kyung, Lynch, Joseph W.

Get full text

Corrigendum to “Type 2 diabetes after a pregnancy with gestational diabetes among first nations women in Australia: The PANDORA study” [Diabetes Res. Clin. Pract. 181 (2021) 109092... by Wood, Anna J., Boyle, Jacqueline A., Barr, Elizabeth L.M., Barzi, Federica, Hare, Matthew J.L., Titmuss, Angela, Longmore, Danielle K., Death, Elizabeth, Kelaart, Joanna, Kirkwood, Marie, Graham, Sian, Connors, Christine, Moore, Elizabeth, O'Dea, Kerin, Oats, Jeremy J.N., McIntyre, Harold D., Zimmet, Paul Z., Lu, Zhong X., Brown, Alex, Shaw, Jonathan E., Maple-Brown, Louise J.

Get full text

Muscle Biopsy Findings in Combination With Myositis‐Specific Autoantibodies Aid Prediction of Outcomes in Juvenile Dermatomyositis by Deakin, Claire T., Simou, Stefania, Arnold, Katie A., Tansley, Sarah L., Betteridge, Zoe E., McHugh, Neil J., Varsani, Hemlata, Holton, Janice L., Jacques, Thomas S., Pilkington, Clarissa A., Nistala, Kiran, Wedderburn, Lucy R., Armon, Kate, Ellis‐Gage, Joe, Roper, Holly, Briggs, Vanja, Watts, Joanna, McCann, Liza, Roberts, Ian, Baildam, Eileen, Hanna, Louise, Lloyd, Olivia, Wadeson, Susan, Riley, Phil, McGovern, Ann, Ryder, Clive, Scott, Janis, Thomas, Beverley, Southwood, Taunton, Al‐Abadi, Eslam, Wyatt, Sue, Jackson, Gillian, Amin, Tania, Wood, Mark, VanRooyen, Vanessa, Burton, Deborah, Davidson, Joyce, Gardner‐Medwin, Janet, Martin, Neil, Ferguson, Sue, Waxman, Liz, Browne, Michael, Friswell, Mark, Swift, Alison, Stevenson, Vicky, Wade, Debbie, Sen, Ethan, Smith, Eve, Qiao, Lisa, Watson, Stuart, Duong, Claire, Venning, Helen, Satyapal, Rangaraj, Stretton, Elizabeth, Jordan, Mary, Mosley, Ellen, Frost, Anna, Crate, Lindsay, Warrier, Kishore, Stafford, Stefanie, Hasson, Nathan, Maillard, Sue, Halkon, Elizabeth, Brown, Virginia, Juggins, Audrey, Smith, Sally, Lunt, Sian, Enayat, Elli, Kassoumeri, Laura, Beard, Laura, Almeida, Beverley, Marques, Raquel, Dowle, Stefanie, Papadopoulou, Charis, Suffield, Linda, Al‐Obaidi, Muthana, Lee, Helen, Leach, Sam, Smith, Helen, McMahon, Anne‐Marie, Chisem, Heather, Kingshott, Ruth, Wilkinson, Nick, Inness, Emma, Kendall, Eunice, Mayers, David, Etherton, Ruth, Bailey, Kathryn, Clinch, Jacqui, Fineman, Natalie, Pluess‐Hall, Helen, Vallance, Lindsay, Akeroyd, Louise, Leahy, Alice, Collier, Amy, Cutts, Rebecca, De Graaf, Hans, Davidson, Brian, Hartfree, Sarah, Pratt, Danny

Get full text

Consensus Coding Sequences of Human Breast and Colorectal Cancers by Sjöblom, Tobias, Jones, Siân, Wood, Laura D, Parsons, D. Williams, Lin, Jimmy, Barber, Thomas D, Mandelker, Diana, Leary, Rebecca J, Ptak, Janine, Silliman, Natalie, Szabo, Steve, Buckhaults, Phillip, Farrell, Christopher, Meeh, Paul, Markowitz, Sanford D, Willis, Joseph, Dawson, Dawn, Willson, James K.V, Gazdar, Adi F, Hartigan, James, Wu, Leo, Liu, Changsheng, Parmigiani, Giovanni, Park, Ben Ho, Bachman, Kurtis E, Papadopoulos, Nickolas, Vogelstein, Bert, Kinzler, Kenneth W, Velculescu, Victor E

Get full text

Pregnancy And Neonatal Diabetes Outcomes in Remote Australia: the PANDORA study—an observational birth cohort by Maple-Brown, Louise, Lee, I-Lynn, Longmore, Danielle, Barzi, Federica, Connors, Christine, Boyle, Jacqueline A, Moore, Elizabeth, Whitbread, Cherie, Kirkwood, Marie, Graham, Sian, Hampton, Vanya, Simmonds, Alison, Van Dokkum, Paula, Kelaart, Joanna, Thomas, Sujatha, Chitturi, Shridhar, Eades, Sandra, Corpus, Sumaria, Lynch, Michael, Lu, Zhong X, O'Dea, Kerin, Zimmet, Paul, Oats, Jeremy, McIntyre, Harold D, Brown, Alex D H, Shaw, Jonathan E

Get full text

Type 2 diabetes after a pregnancy with gestational diabetes among first nations women in Australia: The PANDORA study by Wood, Anna J., Boyle, Jacqueline A., Barr, Elizabeth L.M., Barzi, Federica, Hare, Matthew J.L., Titmuss, Angela, Longmore, Danielle K., Death, Elizabeth, Kelaart, Joanna, Kirkwood, Marie, Graham, Sian, Connors, Christine, Moore, Elizabeth, O'Dea, Kerin, Oats, Jeremy J.N., McIntyre, Harold D., Zimmet, Paul Z., Lu, Zhong X., Brown, Alex, Shaw, Jonathan E., Maple-Brown, Louise J.

Get full text

A Systematic Review to Summarise and Appraise the Reporting of Surgical Innovation: a Case Study in Robotic Roux-en-Y Gastric Bypass by Huttman, Marc M., Smith, Alexander N., Robertson, Harry F., Purves, Rory, Biggs, Sarah E., Dewi, Ffion, Dixon, Lauren K., Kirkham, Emily N., Jones, Conor S., Ramirez, Jozel, Scroggie, Darren L., Pathak, Samir, Blencowe, Natalie S.

Get full text