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 em 2012

Contribution of Global Rare Copy-Number Variants to the Risk of Sporadic Congenital Heart Disease

Por Soemedi, Rachel, Wilson, Ian J., Bentham, Jamie, Darlay, Rebecca, Töpf, Ana, Zelenika, Diana, Cosgrove, Catherine, Setchfield, Kerry, Thornborough, Chris, Granados-Riveron, Javier, Blue, Gillian M., Breckpot, Jeroen, Hellens, Stephen, Zwolinkski, Simon, Glen, Elise, Mamasoula, Chrysovalanto, Rahman, Thahira J., Hall, Darroch, Rauch, Anita, Devriendt, Koenraad, Gewillig, Marc, O’ Sullivan, John, Winlaw, David S., Bu’Lock, Frances, Brook, J. David, Bhattacharya, Shoumo, Lathrop, Mark, Santibanez-Koref, Mauro, Cordell, Heather J., Goodship, Judith A., Keavney, Bernard D.
Publicado em 2012

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 em 2013

Rare Variants in NR2F2 Cause Congenital Heart Defects in Humans

Por Al Turki, Saeed, Manickaraj, Ashok K., Mercer, Catherine L., Gerety, Sebastian S., Hitz, Marc-Phillip, Lindsay, Sarah, D’Alessandro, Lisa C.A., Swaminathan, G. Jawahar, Bentham, Jamie, Arndt, Anne-Karin, Low, Jacoba, Breckpot, Jeroen, Gewillig, Marc, Thienpont, Bernard, Abdul-Khaliq, Hashim, Harnack, Christine, Hoff, Kirstin, Kramer, Hans-Heiner, Schubert, Stephan, Siebert, Reiner, Toka, Okan, Cosgrove, Catherine, Watkins, Hugh, Lucassen, Anneke M., O’Kelly, Ita M., Salmon, Anthony P., Bu’Lock, Frances A., Granados-Riveron, Javier, Setchfield, Kerry, Thornborough, Chris, Brook, J. David, Mulder, Barbara, Klaassen, Sabine, Bhattacharya, Shoumo, Devriendt, Koen, FitzPatrick, David F., Wilson, David I., Mital, Seema, Hurles, Matthew E.
Publicado em 2014

Rare Variants in NR2F2 Cause Congenital Heart Defects in Humans

Por Al Turki, Saeed, Manickaraj, Ashok K., Mercer, Catherine L., Gerety, Sebastian S., Hitz, Marc-Phillip, Lindsay, Sarah, D’Alessandro, Lisa C.A., Swaminathan, G. Jawahar, Bentham, Jamie, Arndt, Anne-Karin, Low, Jacoba, Breckpot, Jeroen, Gewillig, Marc, Thienpont, Bernard, Abdul-Khaliq, Hashim, Harnack, Christine, Hoff, Kirstin, Kramer, Hans-Heiner, Schubert, Stephan, Siebert, Reiner, Toka, Okan, Cosgrove, Catherine, Watkins, Hugh, Lucassen, Anneke M., O’Kelly, Ita M., Salmon, Anthony P., Bu’Lock, Frances A., Granados-Riveron, Javier, Setchfield, Kerry, Thornborough, Chris, Brook, J. David, Mulder, Barbara, Klaassen, Sabine, Bhattacharya, Shoumo, Devriendt, Koen, FitzPatrick, David R., Wilson, David I., Mital, Seema, Hurles, Matthew E.
Publicado em 2014

Rare Variants in NR2F2 Cause Congenital Heart Defects in Humans

Por Al Turki, Saeed, Manickaraj, Ashok K., Mercer, Catherine L., Gerety, Sebastian S., Hitz, Marc-Phillip, Lindsay, Sarah, D’Alessandro, Lisa C.A., Swaminathan, G. Jawahar, Bentham, Jamie, Arndt, Anne-Karin, Louw, Jacoba, Breckpot, Jeroen, Gewillig, Marc, Thienpont, Bernard, Abdul-Khaliq, Hashim, Harnack, Christine, Hoff, Kirstin, Kramer, Hans-Heiner, Schubert, Stephan, Siebert, Reiner, Toka, Okan, Cosgrove, Catherine, Watkins, Hugh, Lucassen, Anneke M., O’Kelly, Ita M., Salmon, Anthony P., Bu’Lock, Frances A., Granados-Riveron, Javier, Setchfield, Kerry, Thornborough, Chris, Brook, J. David, Mulder, Barbara, Klaassen, Sabine, Bhattacharya, Shoumo, Devriendt, Koen, FitzPatrick, David R., Wilson, David I., Mital, Seema, Hurles, Matthew E.
Publicado no Am J Hum Genet (2016)

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 em 2013

Association between C677T Polymorphism of Methylene Tetrahydrofolate Reductase and Congenital Heart Disease: Meta-Analysis of 7,697 Cases and 13,125 Controls

Por Mamasoula, Chrysovalanto, Prentice, R. Reid, Pierscionek, Tomasz, Pangilinan, Faith, Mills, James L., Druschel, Charlotte, Pass, Kenneth, Russell, Mark W., Hall, Darroch, Töpf, Ana, Brown, Danielle L., Zelenika, Diana, Bentham, Jamie, Cosgrove, Catherine, Bhattacharya, Shoumo, Riveron, Javier Granados, Setchfield, Kerry, Brook, J. David, Bu'Lock, Frances A., Thornborough, Chris, Rahman, Thahira J., Doza, Julian Palomino, Tan, Huay L., O'Sullivan, John, Stuart, A. Graham, Blue, Gillian, Winlaw, David, Postma, Alex V., Mulder, Barbara J.M., Zwinderman, Aelko H., van Engelen, Klaartje, Moorman, Antoon F.M., Rauch, Anita, Gewillig, Marc, Breckpot, Jeroen, Devriendt, Koen, Lathrop, G. Mark, Farrall, Martin, Goodship, Judith A., Cordell, Heather J., Brody, Lawrence C., Keavney, Bernard D.
Publicado em 2013