Defining the genetic architecture of hypertrophic cardiomyopathy: re-evaluating the role of non-sarcomeric genes

por Walsh, Roddy, Buchan, Rachel, Wilk, Alicja, John, Shibu, Felkin, Leanne E, Thomson, Kate L, Chiaw, Tang Hak, Loong, Calvin Chin Woon, Pua, Chee Jian, Raphael, Claire, Prasad, Sanjay, Barton, Paul J, Funke, Birgit, Watkins, Hugh, Ware, James S, Cook, Stuart A
Publicado 2017

Histiocytoid cardiomyopathy and microphthalmia with linear skin defects syndrome: phenotypes linked by truncating variants in NDUFB11

por Rea, Gillian, Homfray, Tessa, Till, Jan, Roses-Noguer, Ferran, Buchan, Rachel J., Wilkinson, Sam, Wilk, Alicja, Walsh, Roddy, John, Shibu, McKee, Shane, Stewart, Fiona J., Murday, Victoria, Taylor, Robert W., Ashworth, Michael, Baksi, A. John, Daubeney, Piers, Prasad, Sanjay, Barton, Paul J.R., Cook, Stuart A., Ware, James S.
Publicado 2017

Quantitative approaches to variant classification increase the yield and precision of genetic testing in Mendelian diseases: the case of hypertrophic cardiomyopathy

por Walsh, Roddy, Mazzarotto, Francesco, Whiffin, Nicola, Buchan, Rachel, Midwinter, William, Wilk, Alicja, Li, Nicholas, Felkin, Leanne, Ingold, Nathan, Govind, Risha, Ahmad, Mian, Mazaika, Erica, Allouba, Mona, Zhang, Xiaolei, de Marvao, Antonio, Day, Sharlene M., Ashley, Euan, Colan, Steven D., Michels, Michelle, Pereira, Alexandre C., Jacoby, Daniel, Ho, Carolyn Y., Thomson, Kate L., Watkins, Hugh, Barton, Paul J. R., Olivotto, Iacopo, Cook, Stuart A., Ware, James S.
Publicado 2019

Genetic Etiology for Alcohol-Induced Cardiac Toxicity

por Ware, James S., Amor-Salamanca, Almudena, Tayal, Upasana, Govind, Risha, Serrano, Isabel, Salazar-Mendiguchía, Joel, García-Pinilla, Jose Manuel, Pascual-Figal, Domingo A., Nuñez, Julio, Guzzo-Merello, Gonzalo, Gonzalez-Vioque, Emiliano, Bardaji, Alfredo, Manito, Nicolas, López-Garrido, Miguel A., Padron-Barthe, Laura, Edwards, Elizabeth, Whiffin, Nicola, Walsh, Roddy, Buchan, Rachel J., Midwinter, William, Wilk, Alicja, Prasad, Sanjay, Pantazis, Antonis, Baski, John, O’Regan, Declan P., Alonso-Pulpon, Luis, Cook, Stuart A., Lara-Pezzi, Enrique, Barton, Paul J., Garcia-Pavia, Pablo
Publicado 2018

Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy

por Mazzarotto, Francesco, Tayal, Upasana, Buchan, Rachel J., Midwinter, William, Wilk, Alicja, Whiffin, Nicola, Govind, Risha, Mazaika, Erica, de Marvao, Antonio, Dawes, Timothy J.W., Felkin, Leanne E., Ahmad, Mian, Theotokis, Pantazis I., Edwards, Elizabeth, Ing, Alexander Y., Thomson, Kate L., Chan, Laura L.H., Sim, David, Baksi, A. John, Pantazis, Antonis, Roberts, Angharad M., Watkins, Hugh, Funke, Birgit, O’Regan, Declan P., Olivotto, Iacopo, Barton, Paul J.R., Prasad, Sanjay K., Cook, Stuart A., Ware, James S., Walsh, Roddy
Publicado 2020

The Architecture of Gene Regulatory Variation across Multiple Human Tissues: The MuTHER Study

por Nica, Alexandra C., Parts, Leopold, Glass, Daniel, Nisbet, James, Barrett, Amy, Sekowska, Magdalena, Travers, Mary, Potter, Simon, Grundberg, Elin, Small, Kerrin, Hedman, Åsa K., Bataille, Veronique, Tzenova Bell, Jordana, Surdulescu, Gabriela, Dimas, Antigone S., Ingle, Catherine, Nestle, Frank O., di Meglio, Paola, Min, Josine L., Wilk, Alicja, Hammond, Christopher J., Hassanali, Neelam, Yang, Tsun-Po, Montgomery, Stephen B., O'Rahilly, Steve, Lindgren, Cecilia M., Zondervan, Krina T., Soranzo, Nicole, Barroso, Inês, Durbin, Richard, Ahmadi, Kourosh, Deloukas, Panos, McCarthy, Mark I., Dermitzakis, Emmanouil T., Spector, Timothy D.
Publicado 2011

Disease-specific variant pathogenicity prediction significantly improves variant interpretation in inherited cardiac conditions

por Zhang, Xiaolei, Walsh, Roddy, Whiffin, Nicola, Buchan, Rachel, Midwinter, William, Wilk, Alicja, Govind, Risha, Li, Nicholas, Ahmad, Mian, Mazzarotto, Francesco, Roberts, Angharad, Theotokis, Pantazis I., Mazaika, Erica, Allouba, Mona, de Marvao, Antonio, Pua, Chee Jian, Day, Sharlene M., Ashley, Euan, Colan, Steven D., Michels, Michelle, Pereira, Alexandre C., Jacoby, Daniel, Ho, Carolyn Y., Olivotto, Iacopo, Gunnarsson, Gunnar T., Jefferies, John L., Semsarian, Chris, Ingles, Jodie, O’Regan, Declan P., Aguib, Yasmine, Yacoub, Magdi H., Cook, Stuart A., Barton, Paul J. R., Bottolo, Leonardo, Ware, James S.
Publicado 2020

Mapping cis- and trans-regulatory effects across multiple tissues in twins

por Grundberg, Elin, Small, Kerrin S., Hedman, Åsa K., Nica, Alexandra C., Buil, Alfonso, Keildson, Sarah, Bell, Jordana T., Yang, Tsun-Po, Meduri, Eshwar, Barrett, Amy, Nisbett, James, Sekowska, Magdalena, Wilk, Alicja, Shin, So-Youn, Glass, Daniel, Travers, Mary, Min, Josine L., Ring, Sue, Ho, Karen, Thorleifsson, Gudmar, Kong, Augustine, Thorsteindottir, Unnur, Ainali, Chrysanthi, Dimas, Antigone S., Hassanali, Neelam, Ingle, Catherine, Knowles, David, Krestyaninova, Maria, Lowe, Christopher E., Di Meglio, Paola, Montgomery, Stephen B., Parts, Leopold, Potter, Simon, Surdulescu, Gabriela, Tsaprouni, Loukia, Tsoka, Sophia, Bataille, Veronique, Durbin, Richard, Nestle, Frank O., O’Rahilly, Stephen, Soranzo, Nicole, Lindgren, Cecilia M., Zondervan, Krina T., Ahmadi, Kourosh R., Schadt, Eric E., Stefansson, Kari, Smith, George Davey, McCarthy, Mark I., Deloukas, Panos, Dermitzakis, Emmanouil T., Spector, Tim D.
Publicado 2012

Genetic Variants Associated With Cancer Therapy–Induced Cardiomyopathy

por Garcia-Pavia, Pablo, Kim, Yuri, Restrepo-Cordoba, Maria Alejandra, Lunde, Ida G., Wakimoto, Hiroko, Smith, Amanda M., Toepfer, Christopher N., Getz, Kelly, Gorham, Joshua, Patel, Parth, Ito, Kaoru, Willcox, Jonathan A., Arany, Zoltan, Li, Jian, Owens, Anjali T., Govind, Risha, Nuñez, Beatriz, Mazaika, Erica, Bayes-Genis, Antoni, Walsh, Roddy, Finkelman, Brian, Lupon, Josep, Whiffin, Nicola, Serrano, Isabel, Midwinter, William, Wilk, Alicja, Bardaji, Alfredo, Ingold, Nathan, Buchan, Rachel, Tayal, Upasana, Pascual-Figal, Domingo A., de Marvao, Antonio, Ahmad, Mian, Garcia-Pinilla, Jose Manuel, Pantazis, Antonis, Dominguez, Fernando, John Baksi, A., O’Regan, Declan P., Rosen, Stuart D., Prasad, Sanjay K., Lara-Pezzi, Enrique, Provencio, Mariano, Lyon, Alexander R., Alonso-Pulpon, Luis, Cook, Stuart A., DePalma, Steven R., Barton, Paul J.R., Aplenc, Richard, Seidman, Jonathan G., Ky, Bonnie, Ware, James S., Seidman, Christine E.
Publicado 2019