The genetics of obesity: FTO leads the way

Bằng Fawcett, Katherine A., Barroso, Inês
Được phát hành 2010

Deep Brain Stimulation in Three Related Cases of North Sea Progressive Myoclonic Epilepsy from South Africa

Bằng Anderson, David G., Németh, Andrea H., Fawcett, Katherine A., Sims, David, Miller, Jack, Krause, Amanda
Xuất bản năm Mov Disord Clin Pract (2016)

CGAT: computational genomics analysis toolkit

Bằng Sims, David, Ilott, Nicholas E., Sansom, Stephen N., Sudbery, Ian M., Johnson, Jethro S., Fawcett, Katherine A., Berlanga-Taylor, Antonio J., Luna-Valero, Sebastian, Ponting, Chris P., Heger, Andreas
Được phát hành 2014

Behavioral Variation in Gorillas: Evidence of Potential Cultural Traits

Bằng Robbins, Martha M., Ando, Chieko, Fawcett, Katherine A., Grueter, Cyril C., Hedwig, Daniela, Iwata, Yuji, Lodwick, Jessica L., Masi, Shelly, Salmi, Roberta, Stoinski, Tara S., Todd, Angelique, Vercellio, Veronica, Yamagiwa, Juichi
Xuất bản năm PLoS One (2016)

Evaluating the Role of LPIN1 Variation in Insulin Resistance, Body Weight, and Human Lipodystrophy in U.K. Populations

Bằng Fawcett, Katherine A., Grimsey, Neil, Loos, Ruth J.F., Wheeler, Eleanor, Daly, Allan, Soos, Maria, Semple, Robert, Syddall, Holly, Cooper, Cyrus, Siniossoglou, Symeon, O'Rahilly, Stephen, Wareham, Nicholas J., Barroso, Inês
Được phát hành 2008

Detailed Investigation of the Role of Common and Low-Frequency WFS1 Variants in Type 2 Diabetes Risk

Bằng Fawcett, Katherine A., Wheeler, Eleanor, Morris, Andrew P., Ricketts, Sally L., Hallmans, Göran, Rolandsson, Olov, Daly, Allan, Wasson, Jon, Permutt, Alan, Hattersley, Andrew T., Glaser, Benjamin, Franks, Paul W., McCarthy, Mark I., Wareham, Nicholas J., Sandhu, Manjinder S., Barroso, Inês
Được phát hành 2010

Pleiotropic associations of heterozygosity for the SERPINA1 Z allele in the UK Biobank

Bằng Fawcett, Katherine A., Song, Kijoung, Qian, Guoqing, Farmaki, Aliki-Eleni, Packer, Richard, John, Catherine, Shrine, Nick, Granell, Raquel, Ring, Sue, Timpson, Nicholas J., Yerges-Armstrong, Laura M., Eastell, Richard, Wain, Louise V., Scott, Robert A., Tobin, Martin D., Hall, Ian P.
Xuất bản năm ERJ Open Res (2021)

A truncation mutation in TBC1D4 in a family with acanthosis nigricans and postprandial hyperinsulinemia

Bằng Dash, Satya, Sano, Hiroyuki, Rochford, Justin J., Semple, Robert K., Yeo, Giles, Hyden, Caroline S. S., Soos, Maria A., Clark, James, Rodin, Andrew, Langenberg, Claudia, Druet, Celine, Fawcett, Katherine A., Tung, Y. C. Loraine, Wareham, Nicolas J., Barroso, Inês, Lienhard, Gustav E., O'Rahilly, Stephen, Savage, David B.
Được phát hành 2009

De novo point mutations in patients diagnosed with ataxic cerebral palsy

Bằng Parolin Schnekenberg, Ricardo, Perkins, Emma M., Miller, Jack W., Davies, Wayne I. L., D’Adamo, Maria Cristina, Pessia, Mauro, Fawcett, Katherine A., Sims, David, Gillard, Elodie, Hudspith, Karl, Skehel, Paul, Williams, Jonathan, O’Regan, Mary, Jayawant, Sandeep, Jefferson, Rosalind, Hughes, Sarah, Lustenberger, Andrea, Ragoussis, Jiannis, Jackson, Mandy, Tucker, Stephen J., Németh, Andrea H.
Xuất bản năm Brain (2015)

A Dominant Mutation in FBXO38 Causes Distal Spinal Muscular Atrophy with Calf Predominance

Bằng Sumner, Charlotte J., d’Ydewalle, Constantin, Wooley, Joe, Fawcett, Katherine A., Hernandez, Dena, Gardiner, Alice R., Kalmar, Bernadett, Baloh, Robert H., Gonzalez, Michael, Züchner, Stephan, Stanescu, Horia C., Kleta, Robert, Mankodi, Ami, Cornblath, David R., Boylan, Kevin B., Reilly, Mary M., Greensmith, Linda, Singleton, Andrew B., Harms, Matthew B., Rossor, Alexander M., Houlden, Henry
Được phát hành 2013

Common variants in WFS1 confer risk of type 2 diabetes

Bằng Sandhu, Manjinder S, Weedon, Michael N, Fawcett, Katherine A, Wasson, Jon, Debenham, Sally L, Daly, Allan, Lango, Hana, Frayling, Timothy M, Neumann, Rosalind J, Sherva, Richard, Blech, Ilana, Pharoah, Paul D, Palmer, Colin N A, Kimber, Charlotte, Tavendale, Roger, Morris, Andrew D, McCarthy, Mark I, Walker, Mark, Hitman, Graham, Glaser, Benjamin, Permutt, M Alan, Hattersley, Andrew T, Wareham, Nicholas J, Barroso, Inês
Được phát hành 2007

Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated with Craniofacial, Neurological, Cardiovascular, and Skeletal Features

Bằng Turnpenny, Peter D., Wright, Michael J., Sloman, Melissa, Caswell, Richard, van Essen, Anthony J., Gerkes, Erica, Pfundt, Rolph, White, Susan M., Shaul-Lotan, Nava, Carpenter, Lori, Schaefer, G. Bradley, Fryer, Alan, Innes, A. Micheil, Forbes, Kirsten P., Chung, Wendy K., McLaughlin, Heather, Henderson, Lindsay B., Roberts, Amy E., Heath, Karen E., Paumard-Hernández, Beatriz, Gener, Blanca, Fawcett, Katherine A., Gjergja-Juraški, Romana, Pilz, Daniela T., Fry, Andrew E.
Xuất bản năm Am J Hum Genet (2018)

Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated with Craniofacial, Neurological, Cardiovascular, and Skeletal Features

Bằng Turnpenny, Peter D., Wright, Michael J., Sloman, Melissa, Caswell, Richard, van Essen, Anthony J., Gerkes, Erica, Pfundt, Rolph, White, Susan M., Shaul-Lotan, Nava, Carpenter, Lori, Schaefer, G. Bradley, Fryer, Alan, Innes, A. Micheil, Forbes, Kirsten P., Chung, Wendy K., McLaughlin, Heather, Henderson, Lindsay B., Roberts, Amy E., Heath, Karen E., Paumard-Hernández, Beatriz, Gener, Blanca, Fawcett, Katherine A., Gjergja-Juraški, Romana, Pilz, Daniela T., Fry, Andrew E.
Xuất bản năm Am J Hum Genet (2018)

De novo mutations in GRIN1 cause extensive bilateral polymicrogyria

Bằng Fry, Andrew E, Fawcett, Katherine A, Zelnik, Nathanel, Yuan, Hongjie, Thompson, Belinda A N, Shemer-Meiri, Lilach, Cushion, Thomas D, Mugalaasi, Hood, Sims, David, Stoodley, Neil, Chung, Seo-Kyung, Rees, Mark I, Patel, Chirag V, Brueton, Louise A, Layet, Valérie, Giuliano, Fabienne, Kerr, Michael P, Banne, Ehud, Meiner, Vardiella, Lerman-Sagie, Tally, Helbig, Katherine L, Kofman, Laura H, Knight, Kristin M, Chen, Wenjuan, Kannan, Varun, Hu, Chun, Kusumoto, Hirofumi, Zhang, Jin, Swanger, Sharon A, Shaulsky, Gil H, Mirzaa, Ghayda M, Muir, Alison M, Mefford, Heather C, Dobyns, William B, Mackenzie, Amanda B, Mullins, Jonathan G L, Lemke, Johannes R, Bahi-Buisson, Nadia, Traynelis, Stephen F, Iago, Heledd F, Pilz, Daniela T
Xuất bản năm Brain (2018)

TMX2 Is a Crucial Regulator of Cellular Redox State, and Its Dysfunction Causes Severe Brain Developmental Abnormalities

Bằng Vandervore, Laura V., Schot, Rachel, Milanese, Chiara, Smits, Daphne J., Kasteleijn, Esmee, Fry, Andrew E., Pilz, Daniela T., Brock, Stefanie, Börklü-Yücel, Esra, Post, Marco, Bahi-Buisson, Nadia, Sánchez-Soler, María José, van Slegtenhorst, Marjon, Keren, Boris, Afenjar, Alexandra, Coury, Stephanie A., Tan, Wen-Hann, Oegema, Renske, de Vries, Linda S., Fawcett, Katherine A., Nikkels, Peter G.J., Bertoli-Avella, Aida, Al Hashem, Amal, Alwabel, Abdulmalik A., Tlili-Graiess, Kalthoum, Efthymiou, Stephanie, Zafar, Faisal, Rana, Nuzhat, Bibi, Farah, Houlden, Henry, Maroofian, Reza, Person, Richard E., Crunk, Amy, Savatt, Juliann M., Turner, Lisbeth, Doosti, Mohammad, Karimiani, Ehsan Ghayoor, Saadi, Nebal Waill, Akhondian, Javad, Lequin, Maarten H., Kayserili, Hülya, van der Spek, Peter J., Jansen, Anna C., Kros, Johan M., Verdijk, Robert M., Milošević, Nataša Jovanov, Fornerod, Maarten, Mastroberardino, Pier Giorgio, Mancini, Grazia M.S.
Xuất bản năm Am J Hum Genet (2019)

Variants associated with HHIP expression have sex-differential effects on lung function

Bằng Fawcett, Katherine A., Obeidat, Ma'en, Melbourne, Carl, Shrine, Nick, Guyatt, Anna L., John, Catherine, Luan, Jian'an, Richmond, Anne, Moksnes, Marta R., Granell, Raquel, Weiss, Stefan, Imboden, Medea, May-Wilson, Sebastian, Hysi, Pirro, Boutin, Thibaud S., Portas, Laura, Flexeder, Claudia, Harris, Sarah E., Wang, Carol A., Lyytikäinen, Leo-Pekka, Palviainen, Teemu, Foong, Rachel E., Keidel, Dirk, Minelli, Cosetta, Langenberg, Claudia, Bossé, Yohan, Van den Berge, Maarten, Sin, Don D., Hao, Ke, Campbell, Archie, Porteous, David, Padmanabhan, Sandosh, Smith, Blair H., Evans, David M., Ring, Sue, Langhammer, Arnulf, Hveem, Kristian, Willer, Cristen, Ewert, Ralf, Stubbe, Beate, Pirastu, Nicola, Klaric, Lucija, Joshi, Peter K., Patasova, Karina, Massimo, Mangino, Polasek, Ozren, Starr, John M., Karrasch, Stefan, Strauch, Konstantin, Meitinger, Thomas, Rudan, Igor, Rantanen, Taina, Pietiläinen, Kirsi, Kähönen, Mika, Raitakari, Olli T., Hall, Graham L., Sly, Peter D., Pennell, Craig E., Kaprio, Jaakko, Lehtimäki, Terho, Vitart, Veronique, Deary, Ian J., Jarvis, Debbie, Wilson, James F., Spector, Tim, Probst-Hensch, Nicole, Wareham, Nicholas J., Völzke, Henry, Henderson, John, Strachan, David P., Brumpton, Ben M., Hayward, Caroline, Hall, Ian P., Tobin, Martin D., Wain, Louise V.
Xuất bản năm Wellcome Open Res (2021)

New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries.

Bằng Shrine, Nick, Guyatt, Anna L, Erzurumluoglu, A Mesut, Jackson, Victoria E, Hobbs, Brian D, Melbourne, Carl A, Batini, Chiara, Fawcett, Katherine A, Song, Kijoung, Sakornsakolpat, Phuwanat, Li, Xingnan, Boxall, Ruth, Reeve, Nicola F, Obeidat, Ma’en, Zhao, Jing Hua, Wielscher, Matthias, Weiss, Stefan, Kentistou, Katherine A, Cook, James P, Sun, Benjamin B, Zhou, Jian, Hui, Jennie, Karrasch, Stefan, Imboden, Medea, Harris, Sarah E, Marten, Jonathan, Enroth, Stefan, Kerr, Shona M, Surakka, Ida, Vitart, Veronique, Lehtimäki, Terho, Allen, Richard J, Bakke, Per S, Beaty, Terri H, Bleecker, Eugene R, Bossé, Yohan, Brandsma, Corry-Anke, Chen, Zhengming, Crapo, James D, Danesh, John, DeMeo, Dawn L, Dudbridge, Frank, Ewert, Ralf, Gieger, Christian, Gulsvik, Amund, Hansell, Anna L, Hao, Ke, Hoffman, Joshua D, Hokanson, John E, Homuth, Georg, Joshi, Peter K, Joubert, Philippe, Langenberg, Claudia, Li, Xuan, Li, Liming, Lin, Kuang, Lind, Lars, Locantore, Nicholas, Luan, Jian’an, Mahajan, Anubha, Maranville, Joseph C, Murray, Alison, Nickle, David C, Packer, Richard, Parker, Margaret M, Paynton, Megan L, Porteous, David J, Prokopenko, Dmitry, Qiao, Dandi, Rawal, Rajesh, Runz, Heiko, Sayers, Ian, Sin, Don D, Smith, Blair H, Artigas, María Soler, Sparrow, David, Tal-Singer, Ruth, Timmers, Paul RHJ, Van den Berge, Maarten, Whittaker, John C, Woodruff, Prescott G, Yerges-Armstrong, Laura M, Troyanskaya, Olga G, Raitakari, Olli T, Kähönen, Mika, Polasek, Ozren, Gyllensten, Ulf, Rudan, Igor, Deary, Ian J, Probst-Hensch, Nicole M, Schulz, Holger, James, Alan L, Wilson, James F, Stubbe, Beate, Zeggini, Eleftheria, Jarvelin, Marjo-Riitta, Wareham, Nick, Silverman, Edwin K, Hayward, Caroline, Morris, Andrew P, Butterworth, Adam S, Scott, Robert A, Walters, Robin G, Meyers, Deborah A, Cho, Michael H, Strachan, David P, Hall, Ian P, Tobin, Martin D, Wain, Louise V
Xuất bản năm Nat Genet (2019)