Human Genetics of Congenital Heart Defects von Wilsdon, Anna, Loughna, Siobhan

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Systems genetics analysis identifies calcium-signaling defects as novel cause of congenital heart disease von Izarzugaza, Jose M. G., Ellesoe, Sabrina G., Doganli, Canan, Ehlers, Natasja Spring, Dalgaard, Marlene D., Audain, Enrique, Dombrowsky, Gregor, Banasik, Karina, Sifrim, Alejandro, Wilsdon, Anna, Thienpont, Bernard, Breckpot, Jeroen, Gewillig, Marc, Brook, J. David, Hitz, Marc-Phillip, Larsen, Lars A., Brunak, Soren

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An emerging phenotype of Xq22 microdeletions in females with severe intellectual disability, hypotonia and behavioral abnormalities von Yamamoto, Toshiyuki, Wilsdon, Anna, Joss, Shelagh, Isidor, Bertrand, Erlandsson, Anna, Suri, Mohnish, Sangu, Noriko, Shimada, Shino, Shimojima, Keiko, Le Caignec, Cédric, Samuelsson, Lena, Stefanova, Margarita

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Recent advances in congenital heart disease genomics von Wilsdon, Anna, Sifrim, Alejandro, Hitz, Marc-Phillip, Hurles, Matthew, Brook, J David

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Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing von Sifrim, Alejandro, Hitz, Marc-Phillip, Wilsdon, Anna, Breckpot, Jeroen, Turki, Saeed H Al, 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 E

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Cyclin‐dependent kinase 13 is indispensable for normal mouse heart development von Waheed‐Ullah, Qazi, Wilsdon, Anna, Abbad, Aseel, Rochette, Sophie, Bu'Lock, Frances, Saed, Asma Ali, Hitz, Marc‐Phillip, Brook, J. David, Loughna, Siobhan

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Effect of deletion of the protein kinase PRKD1 on development of the mouse embryonic heart von Waheed‐Ullah, Qazi, Wilsdon, Anna, Abbad, Aseel, Rochette, Sophie, Bu'Lock, Frances, Hitz, Marc‐Phillip, Dombrowsky, Gregor, Cuello, Friederike, Brook, J. David, Loughna, Siobhan

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Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart disease von Audain, Enrique, Wilsdon, Anna, Breckpot, Jeroen, Izarzugaza, Jose M. G., Fitzgerald, Tomas W., Kahlert, Anne-Karin, Sifrim, Alejandro, Wunnemann, 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 E. F., 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

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Germline variants inHEY2functional domains lead to congenital heart defects and thoracic aortic aneurysms von van Walree, Eva S., Dombrowsky, Gregor, Jansen, Iris E., Mirkov, Masa Umicevic, Zwart, Rob, Ilgun, Aho, Guo, Dongchuan, Clur, Sally-Ann B., Amin, Ahmed S., Savage, Jeanne E., van der Wal, Allard C., Waisfisz, Quinten, Maugeri, Alessandra, Wilsdon, Anna, Bu'Lock, Frances A., Hurles, Matthew E., Dittrich, Sven, Berger, Felix, Audain Martinez, Enrique, Christoffels, Vincent M., Hitz, Marc-Philip, Milewicz, Dianna M., Posthuma, Danielle, Meijers-Heijboer, Hanne, Postma, Alex V., Mathijssen, Inge B.

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Prenatal diagnosis of single gene disorders von Wilsdon, Anna, Eason, Jacqueline

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Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot von 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, Hitz, Marc-Phillip, Abdul-Khaliq, Hashim, Berger, Felix, Dähnert, Ingo, Dittrich, Sven, Uebing, Anselm, Stiller, Brigitte, 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.

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

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Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart disease (vol 17, e1009679, 2021) von Audain, Enrique, Wilsdon, Anna, Breckpot, Jeroen, Izarzugaza, Jose M. G., Fitzgerald, Tomas W., Kahlert, Anne-Karin, Sifrim, Alejandro, Wunnemann, 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 E. F., 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

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Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart disease von Audain, Enrique, Wilsdon, Anna, Breckpot, Jeroen, Izarzugaza, Jose M.G, Fitzgerald, Tomas W, Kahlert, Anne-Karin, Sifrim, Alejandro, Wunnemann, 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 E.F, 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

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Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot von Skoric-Milosavljevic, 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

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Germline variants in HEY2 functional domains lead to congenital heart defects and thoracic aortic aneurysms von van Walree, Eva S., Dombrowsky, Gregor, Jansen, Iris E., Mirkov, Maša Umićević, Zwart, Rob, Ilgun, Aho, Guo, Dongchuan, Clur, Sally-Ann B., Amin, Ahmed S., Savage, Jeanne E., van der Wal, Allard C., Waisfisz, Quinten, Maugeri, Alessandra, Wilsdon, Anna, Bu’Lock, Frances A., Hurles, Matthew E., Dittrich, Sven, Berger, Felix, Audain Martinez, Enrique, Christoffels, Vincent M., Hitz, Marc-Philip, Milewicz, Dianna M., Posthuma, Daniëlle, Meijers-Heijboer, Hanne, Postma, Alex V., Mathijssen, Inge B.

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Germline variants in HEY2 functional domains lead to congenital heart defects and thoracic aortic aneurysms von van Walree, Eva S., Dombrowsky, Gregor, Jansen, Iris E., Umićević Mirkov, Maša, Zwart, Rob, Ilgun, Aho, Guo, Dongchuan, Clur, Sally-Ann B., Amin, Ahmed S., Savage, Jeanne E., van der Wal, Allard C., Waisfisz, Quinten, Maugeri, Alessandra, Wilsdon, Anna, Bu'Lock, Frances A., Hurles, Matthew E., Dittrich, Sven, Berger, Felix, Audain Martinez, Enrique, Christoffels, Vincent M., Hitz, Marc-Philip, Milewicz, Dianna M., Posthuma, Daniëlle, Meijers-Heijboer, Hanne, Postma, Alex V., Mathijssen, Inge B.

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Systems genetics analysis identifies calcium-signaling defects as novel cause of congenital heart disease von Izarzugaza, Jose M.G, Ellesoe, Sabrina G, Doganli, Canan, Ehlers, Natasja Spring, Dalgaard, Marlene D, Audain, Enrique, Dombrowsky, Gregor, Banasik, Karina, Sifrim, Alejandro, Wilsdon, Anna, Thienpont, Bernard, Breckpot, Jeroen, Gewillig, Marc, Brook, J. David, Hitz, Marc-Phillip, Larsen, Lars A, Brunak, Soren

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Correction to: Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot von 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, Hitz, Marc-Phillip, Abdul-Khaliq, Hashim, Berger, Felix, Dähnert, Ingo, Dittrich, Sven, Uebing, Anselm, Stiller, Brigitte, 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.

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Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot (Jun, 10.1038/ s41436-021-01212-y, 2021) von Skoric-Milosavljevic, 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, Hitz, Marc-Phillip, Hitz, Marc-Phillip, Abdul-Khaliq, Hashim, Berger, Felix, Dahnert, Ingo, Dittrich, Sven, Uebing, Anselm, Stiller, Brigitte, 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.

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