Targeted Next‐Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability

por Grozeva, Detelina, Carss, Keren, Spasic‐Boskovic, Olivera, Tejada, Maria‐Isabel, Gecz, Jozef, Shaw, Marie, Corbett, Mark, Haan, Eric, Thompson, Elizabeth, Friend, Kathryn, Hussain, Zaamin, Hackett, Anna, Field, Michael, Renieri, Alessandra, Stevenson, Roger, Schwartz, Charles, Floyd, James A.B., Bentham, Jamie, Cosgrove, Catherine, Keavney, Bernard, Bhattacharya, Shoumo, Hurles, Matthew, Raymond, F. Lucy
Publicado 2015

Defining cardiac adaptations and safety of endurance training in patients with m.3243A>G-related mitochondrial disease()()()

por Bates, Matthew G.D., Newman, Jane H., Jakovljevic, Djordje G., Hollingsworth, Kieren G., Alston, Charlotte L., Zalewski, Pawel, Klawe, Jacek J., Blamire, Andrew M., MacGowan, Guy A., Keavney, Bernard D., Bourke, John P., Schaefer, Andrew, McFarland, Robert, Newton, Julia L., Turnbull, Douglass M., Taylor, Robert W., Trenell, Michael I., Gorman, Gráinne S.
Publicado 2013

Genetic Variation in VEGF Does Not Contribute Significantly to the Risk of Congenital Cardiovascular Malformation

por Griffin, Helen R., Hall, Darroch H., Topf, Ana, Eden, James, Stuart, A. Graham, Parsons, Jonathan, Peart, Ian, Deanfield, John E., O'Sullivan, John, Babu-Narayan, Sonya V., Gatzoulis, Michael A., Bu'Lock, Frances A., Bhattacharya, Shoumo, Bentham, Jamie, Farrall, Martin, Granados Riveron, Javier, Brook, J. David, Burn, John, Cordell, Heather J., Goodship, Judith A., Keavney, Bernard
Publicado 2009

Genomic Risk Prediction of Coronary Artery Disease in 480,000 Adults: Implications for Primary Prevention

por Inouye, Michael, Abraham, Gad, Nelson, Christopher P., Wood, Angela M., Sweeting, Michael J., Dudbridge, Frank, Lai, Florence Y., Kaptoge, Stephen, Brozynska, Marta, Wang, Tingting, Ye, Shu, Webb, Thomas R., Rutter, Martin K., Tzoulaki, Ioanna, Patel, Riyaz S., Loos, Ruth J.F., Keavney, Bernard, Hemingway, Harry, Thompson, John, Watkins, Hugh, Deloukas, Panos, Di Angelantonio, Emanuele, Butterworth, Adam S., Danesh, John, Samani, Nilesh J.
Publicado 2018

Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls

por Soemedi, Rachel, Topf, Ana, Wilson, Ian J., Darlay, Rebecca, Rahman, Thahira, Glen, Elise, Hall, Darroch, Huang, Ni, Bentham, Jamie, Bhattacharya, Shoumo, Cosgrove, Catherine, Brook, J. David, Granados-Riveron, Javier, Setchfield, Kerry, Bu'Lock, Frances, Thornborough, Chris, Devriendt, Koenraad, Breckpot, Jeroen, Hofbeck, Michael, Lathrop, Mark, Rauch, Anita, Blue, Gillian M., Winlaw, David S., Hurles, Matthew, Santibanez-Koref, Mauro, Cordell, Heather J., Goodship, Judith A., Keavney, Bernard D.
Publicado 2012

Data-independent acquisition mass spectrometry in severe rheumatic heart disease (RHD) identifies a proteomic signature showing ongoing inflammation and effectively classifying RHD...

por Salie, M. Taariq, Yang, Jing, Ramírez Medina, Carlos R., Zühlke, Liesl J., Chishala, Chishala, Ntsekhe, Mpiko, Gitura, Bernard, Ogendo, Stephen, Okello, Emmy, Lwabi, Peter, Musuku, John, Mtaja, Agnes, Hugo-Hamman, Christopher, El-Sayed, Ahmed, Damasceno, Albertino, Mocumbi, Ana, Bode-Thomas, Fidelia, Yilgwan, Christopher, Amusa, Ganiyu A., Nkereuwem, Esin, Shaboodien, Gasnat, Da Silva, Rachael, Lee, Dave Chi Hoo, Frain, Simon, Geifman, Nophar, Whetton, Anthony D., Keavney, Bernard, Engel, Mark E.
Publicado 2022

Identifying genetic factors that contribute to the increased risk of congenital heart defects in infants with Down syndrome

por Trevino, Cristina E., Holleman, Aaron M., Corbitt, Holly, Maslen, Cheryl L., Rosser, Tracie C., Cutler, David J., Johnston, H. Richard, Rambo-Martin, Benjamin L., Oberoi, Jai, Dooley, Kenneth J., Capone, George T., Reeves, Roger H., Cordell, Heather J., Keavney, Bernard D., Agopian, A.J., Goldmuntz, Elizabeth, Gruber, Peter J., O’Brien, James E., Bittel, Douglas C., Wadhwa, Lalita, Cua, Clifford L., Moskowitz, Ivan P., Mulle, Jennifer G., Epstein, Michael P., Sherman, Stephanie L., Zwick, Michael E.
Publicado 2020

Hypertension and renin-angiotensin system blockers are not associated with expression of angiotensin-converting enzyme 2 (ACE2) in the kidney

por Jiang, Xiao, Eales, James M, Scannali, David, Nazgiewicz, Alicja, Prestes, Priscilla, Maier, Michelle, Denniff, Matthew, Xu, Xiaoguang, Saluja, Sushant, Cano-Gamez, Eddie, Wystrychowski, Wojciech, Szulinska, Monika, Antczak, Andrzej, Byars, Sean, Skrypnik, Damian, Glyda, Maciej, Król, Robert, Zywiec, Joanna, Zukowska-Szczechowska, Ewa, Burrell, Louise M, Woolf, Adrian S, Greenstein, Adam, Bogdanski, Pawel, Keavney, Bernard, Morris, Andrew P, Heagerty, Anthony, Williams, Bryan, Harrap, Stephen B, Trynka, Gosia, Samani, Nilesh J, Guzik, Tomasz J, Charchar, Fadi J, Tomaszewski, Maciej
Publicado 2020

Author Correction: Identifying genetic factors that contribute to the increased risk of congenital heart defects in infants with Down syndrome

por Trevino, Cristina E., Holleman, Aaron M., Corbitt, Holly, Maslen, Cheryl L., Rosser, Tracie C., Cutler, David J., Johnston, H. Richard, Rambo-Martin, Benjamin L., Oberoi, Jai, Dooley, Kenneth J., Capone, George T., Reeves, Roger H., Cordell, Heather J., Keavney, Bernard D., Agopian, A. J., Goldmuntz, Elizabeth, Gruber, Peter J., O’Brien, James E., Bittel, Douglas C., Wadhwa, Lalita, Cua, Clifford L., Moskowitz, Ivan P., Mulle, Jennifer G., Epstein, Michael P., Sherman, Stephanie L., Zwick, Michael E.
Publicado 2021

Rationale, Design, and the Baseline Characteristics of the RHDGen (The Genetics of Rheumatic Heart Disease) Network Study†

por Machipisa, Tafadzwa, Chishala, Chishala, Shaboodien, Gasnat, Zühlke, Liesl J., Muhamed, Babu, Pandie, Shahiemah, de Vries, Jantina, Laing, Nakita, Joachim, Alexia, Daniels, Rezeen, Ntsekhe, Mpiko, Hugo-Hamman, Christopher T., Gitura, Bernard, Ogendo, Stephen, Lwabi, Peter, Okello, Emmy, Damasceno, Albertino, Novela, Celia, Mocumbi, Ana O., Madeira, Geoffrey, Musuku, John, Mtaja, Agnes, ElSayed, Ahmed, Alhassan, Huda H.M., Bode-Thomas, Fidelia, Yilgwan, Christopher, Amusa, Ganiyu, Nkereuwem, Esin, Mulder, Nicola, Ramesar, Raj, Lesosky, Maia, Cordell, Heather J., Chong, Michael, Keavney, Bernard, Paré, Guillaume, Engel, Mark E.
Publicado 2022

Genome-wide association study identifies loci on 12q24 and 13q32 associated with Tetralogy of Fallot

por Cordell, Heather J., Töpf, Ana, Mamasoula, Chrysovalanto, Postma, Alex V., Bentham, Jamie, Zelenika, Diana, Heath, Simon, Blue, Gillian, Cosgrove, Catherine, Granados Riveron, Javier, Darlay, Rebecca, Soemedi, Rachel, Wilson, Ian J., Ayers, Kristin L., Rahman, Thahira J., Hall, Darroch, Mulder, Barbara J.M., Zwinderman, Aelko H., van Engelen, Klaartje, Brook, J. David, Setchfield, Kerry, Bu'Lock, Frances A., Thornborough, Chris, O'Sullivan, John, Stuart, A. Graham, Parsons, Jonathan, Bhattacharya, Shoumo, Winlaw, David, Mital, Seema, Gewillig, Marc, Breckpot, Jeroen, Devriendt, Koen, Moorman, Antoon F.M., Rauch, Anita, Lathrop, G. Mark, Keavney, Bernard D., Goodship, Judith A.
Publicado 2013

Genetic resiliency associated with dominant lethal TPM1 mutation causing atrial septal defect with high heritability

por Teekakirikul, Polakit, Zhu, Wenjuan, Xu, Xinxiu, Young, Cullen B., Tan, Tuantuan, Smith, Amanda M., Wang, Chengdong, Peterson, Kevin A., Gabriel, George C., Ho, Sebastian, Sheng, Yi, Moreau de Bellaing, Anne, Sonnenberg, Daniel A., Lin, Jiuann-huey, Fotiou, Elisavet, Tenin, Gennadiy, Wang, Michael X., Wu, Yijen L., Feinstein, Timothy, Devine, William, Gou, Honglan, Bais, Abha S., Glennon, Benjamin J., Zahid, Maliha, Wong, Timothy C., Ahmad, Ferhaan, Rynkiewicz, Michael J., Lehman, William J., Keavney, Bernard, Alastalo, Tero-Pekka, Freckmann, Mary-Louise, Orwig, Kyle, Murray, Steve, Ware, Stephanie M., Zhao, Hui, Feingold, Brian, Lo, Cecilia W.
Publicado 2022

Genome-wide association study of multiple congenital heart disease phenotypes identifies a susceptibility locus for atrial septal defect at chromosome 4p16

por Cordell, Heather J., Bentham, Jamie, Topf, Ana, Zelenika, Diana, Heath, Simon, Mamasoula, Chrysovalanto, Cosgrove, Catherine, Blue, Gillian, Granados-Riveron, Javier, Setchfield, Kerry, Thornborough, Chris, Breckpot, Jeroen, Soemedi, Rachel, Martin, Ruairidh, Rahman, Thahira J., Hall, Darroch, van Engelen, Klaartje, Moorman, Antoon F.M., Zwinderman, Aelko H, Barnett, Phil, Koopmann, Tamara T., Adriaens, Michiel E., Varro, Andras, George, Alfred L., dos Remedios, Christobal, Bishopric, Nanette H., Bezzina, Connie R., O’Sullivan, John, Gewillig, Marc, Bu’Lock, Frances A., Winlaw, David, Bhattacharya, Shoumo, Devriendt, Koen, Brook, J. David, Mulder, Barbara J.M., Mital, Seema, Postma, Alex V., Lathrop, G. Mark, Farrall, Martin, Goodship, Judith A., Keavney, Bernard D.
Publicado 2013

Protein-altering and regulatory genetic variants near GATA4 implicated in bicuspid aortic valve

por Yang, Bo, Zhou, Wei, Jiao, Jiao, Nielsen, Jonas B., Mathis, Michael R., Heydarpour, Mahyar, Lettre, Guillaume, Folkersen, Lasse, Prakash, Siddharth, Schurmann, Claudia, Fritsche, Lars, Farnum, Gregory A., Lin, Maoxuan, Othman, Mohammad, Hornsby, Whitney, Driscoll, Anisa, Levasseur, Alexandra, Thomas, Marc, Farhat, Linda, Dubé, Marie-Pierre, Isselbacher, Eric M., Franco-Cereceda, Anders, Guo, Dong-chuan, Bottinger, Erwin P., Deeb, G. Michael, Booher, Anna, Kheterpal, Sachin, Chen, Y. Eugene, Kang, Hyun Min, Kitzman, Jacob, Cordell, Heather J., Keavney, Bernard D., Goodship, Judith A., Ganesh, Santhi K., Abecasis, Gonçalo, Eagle, Kim A., Boyle, Alan P., Loos, Ruth J. F., Eriksson, Per, Tardif, Jean-Claude, Brummett, Chad M., Milewicz, Dianna M., Body, Simon C., Willer, Cristen J.
Publicado 2017

Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot

por Škorić-Milosavljević, Doris, Lahrouchi, Najim, Bosada, Fernanda M., Dombrowsky, Gregor, Williams, Simon G., Lesurf, Robert, Tjong, Fleur V. Y., Walsh, Roddy, El Bouchikhi, Ihssane, Breckpot, Jeroen, Audain, Enrique, Ilgun, Aho, Beekman, Leander, Ratbi, Ilham, Strong, Alanna, Muenke, Maximilian, Heide, Solveig, Muir, Alison M., Hababa, Mariam, Cross, Laura, Zhou, Dihong, Pastinen, Tomi, Zackai, Elaine, Atmani, Samir, Ouldim, Karim, Adadi, Najlae, Steindl, Katharina, Rauch, Anita, Brook, David, Wilsdon, Anna, Kuipers, Irene, Blom, Nico A., Mulder, Barbara J., Mefford, Heather C., Keren, Boris, Joset, Pascal, Kruszka, Paul, Thiffault, Isabelle, Sheppard, Sarah E., Roberts, Amy, Lodder, Elisabeth M., Keavney, Bernard D., Clur, Sally-Ann B., Mital, Seema, Hitz, Marc-Philip, Christoffels, Vincent M., Postma, Alex V., Bezzina, Connie R.
Publicado 2021

Correction to: Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot

por Škorić-Milosavljević, Doris, Lahrouchi, Najim, Bosada, Fernanda M., Dombrowsky, Gregor, Williams, Simon G., Lesurf, Robert, Tjong, Fleur V. Y., Walsh, Roddy, El Bouchikhi, Ihssane, Breckpot, Jeroen, Audain, Enrique, Ilgun, Aho, Beekman, Leander, Ratbi, Ilham, Strong, Alanna, Muenke, Maximilian, Heide, Solveig, Muir, Alison M., Hababa, Mariam, Cross, Laura, Zhou, Dihong, Pastinen, Tomi, Zackai, Elaine, Atmani, Samir, Ouldim, Karim, Adadi, Najlae, Steindl, Katharina, Rauch, Anita, Brook, David, Wilsdon, Anna, Kuipers, Irene, Blom, Nico A., Mulder, Barbara J., Mefford, Heather C., Keren, Boris, Joset, Pascal, Kruszka, Paul, Thiffault, Isabelle, Sheppard, Sarah E., Roberts, Amy, Lodder, Elisabeth M., Keavney, Bernard D., Clur, Sally-Ann B., Mital, Seema, Hitz, Marc-Philip, Christoffels, Vincent M., Postma, Alex V., Bezzina, Connie R.
Publicado 2021

Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart disease

por Audain, Enrique, Wilsdon, Anna, Breckpot, Jeroen, Izarzugaza, Jose M. G., Fitzgerald, Tomas W., Kahlert, Anne-Karin, Sifrim, Alejandro, Wünnemann, Florian, Perez-Riverol, Yasset, Abdul-Khaliq, Hashim, Bak, Mads, Bassett, Anne S., Benson, Woodrow D., Berger, Felix, Daehnert, Ingo, Devriendt, Koenraad, Dittrich, Sven, Daubeney, Piers EF, Garg, Vidu, Hackmann, Karl, Hoff, Kirstin, Hofmann, Philipp, Dombrowsky, Gregor, Pickardt, Thomas, Bauer, Ulrike, Keavney, Bernard D., Klaassen, Sabine, Kramer, Hans-Heiner, Marshall, Christian R., Milewicz, Dianna M., Lemaire, Scott, Coselli, Joseph S., Mitchell, Michael E., Tomita-Mitchell, Aoy, Prakash, Siddharth K., Stamm, Karl, Stewart, Alexandre F. R., Silversides, Candice K., Siebert, Reiner, Stiller, Brigitte, Rosenfeld, Jill A., Vater, Inga, Postma, Alex V., Caliebe, Almuth, Brook, J. David, Andelfinger, Gregor, Hurles, Matthew E., Thienpont, Bernard, Larsen, Lars Allan, Hitz, Marc-Phillip
Publicado 2021

Correction: Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart disease

por Audain, Enrique, Wilsdon, Anna, Breckpot, Jeroen, Izarzugaza, Jose M. G., Fitzgerald, Tomas W., Kahlert, Anne-Karin, Sifrim, Alejandro, Wünnemann, Florian, Perez-Riverol, Yasset, Abdul-Khaliq, Hashim, Bak, Mads, Bassett, Anne S., Benson, D. Woodrow, Berger, Felix, Daehnert, Ingo, Devriendt, Koenraad, Dittrich, Sven, Daubeney, Piers EF, Garg, Vidu, Hackmann, Karl, Hoff, Kirstin, Hofmann, Philipp, Dombrowsky, Gregor, Pickardt, Thomas, Bauer, Ulrike, Keavney, Bernard D., Klaassen, Sabine, Kramer, Hans-Heiner, Marshall, Christian R., Milewicz, Dianna M., Lemaire, Scott, Coselli, Joseph S., Mitchell, Michael E., Tomita-Mitchell, Aoy, Prakash, Siddharth K., Stamm, Karl, Stewart, Alexandre F. R., Silversides, Candice K., Siebert, Reiner, Stiller, Brigitte, Rosenfeld, Jill A., Vater, Inga, Postma, Alex V., Caliebe, Almuth, Brook, J. David, Andelfinger, Gregor, Hurles, Matthew E., Thienpont, Bernard, Larsen, Lars Allan, Hitz, Marc-Phillip
Publicado 2021

Genome-wide association analysis identifies novel blood pressure loci and offers biological insights into cardiovascular risk

por Warren, Helen R, Evangelou, Evangelos, Cabrera, Claudia P, Gao, He, Ren, Meixia, Mifsud, Borbala, Ntalla, Ioanna, Surendran, Praveen, Liu, Chunyu, Cook, James P, Kraja, Aldi T, Drenos, Fotios, Loh, Marie, Verweij, Niek, Marten, Jonathan, Karaman, Ibrahim, Segura Lepe, Marcelo P, O’Reilly, Paul F, Knight, Joanne, Snieder, Harold, Kato, Norihiro, He, Jiang, Tai, E Shyong, Said, M Abdullah, Porteous, David, Alver, Maris, Poulter, Neil, Farrall, Martin, Gansevoort, Ron T, Padmanabhan, Sandosh, Mägi, Reedik, Stanton, Alice, Connell, John, Bakker, Stephan J L, Metspalu, Andres, Shields, Denis C, Thom, Simon, Brown, Morris, Sever, Peter, Esko, Tõnu, Hayward, Caroline, van der Harst, Pim, Saleheen, Danish, Chowdhury, Rajiv, Chambers, John C, Chasman, Daniel I, Chakravarti, Aravinda, Newton-Cheh, Christopher, Lindgren, Cecilia M, Levy, Daniel, Kooner, Jaspal S, Keavney, Bernard, Tomaszewski, Maciej, Samani, Nilesh J, Howson, Joanna M M, Tobin, Martin D, Munroe, Patricia B, Ehret, Georg B, Wain, Louise V, Barnes, Michael R, Tzoulaki, Ioanna, Caulfield, Mark J, Elliott, Paul
Publicado 2017

Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing

por Sifrim, Alejandro, Hitz, Marc-Phillip, Wilsdon, Anna, Breckpot, Jeroen, Al Turki, Saeed H., Thienpont, Bernard, McRae, Jeremy, Fitzgerald, Tomas W, Singh, Tarjinder, Swaminathan, Ganesh Jawahar, Prigmore, Elena, Rajan, Diana, Abdul-Khaliq, Hashim, Banka, Siddharth, Bauer, Ulrike M. M., Bentham, Jamie, Berger, Felix, Bhattacharya, Shoumo, Bu'Lock, Frances, Canham, Natalie, Colgiu, Irina-Gabriela, Cosgrove, Catherine, Cox, Helen, Daehnert, Ingo, Daly, Allan, Danesh, John, Fryer, Alan, Gewillig, Marc, Hobson, Emma, Hoff, Kirstin, Homfray, Tessa, Kahlert, Anne-Karin, Ketley, Ami, Kramer, Hans-Heiner, Lachlan, Katherine, Lampe, Anne Katrin, Louw, Jacoba J., Manickara, Ashok Kumar, Manase, Dorin, McCarthy, Karen P., Metcalfe, Kay, Moore, Carmel, Newbury-Ecob, Ruth, Omer, Seham Osman, Ouwehand, Willem H., Park, Soo-Mi, Parker, Michael J., Pickardt, Thomas, Pollard, Martin O., Robert, Leema, Roberts, David J., Sambrook, Jennifer, Setchfield, Kerry, Stiller, Brigitte, Thornborough, Chris, Toka, Okan, Watkins, Hugh, Williams, Denise, Wright, Michael, Mital, Seema, Daubeney, Piers E. F., Keavney, Bernard, Goodship, Judith, Abu-Sulaiman, Riyadh Mahdi, Klaassen, Sabine, Wright, Caroline F., Firth, Helen V., Barrett, Jeffrey C., Devriendt, Koenraad, FitzPatrick, David R., Brook, J. David, Hurles, Matthew
Publicado 2016