Centrosome and ciliary abnormalities in fetal akinesia deformation sequence human fibroblasts

por Jühlen, Ramona, Martinelli, Valérie, Vinci, Chiara, Breckpot, Jeroen, Fahrenkrog, Birthe
Publicado 2020

Parent-Reported Social-Communicative Skills of Children with 22q11.2 Copy Number Variants and Siblings

por Verbesselt, Jente, Van Den Heuvel, Ellen, Breckpot, Jeroen, Zink, Inge, Swillen, Ann
Publicado 2022

Individualized QT interval (QTi) is a powerful diagnostic tool in long QT syndrome: results from a large validation study

por Robyns, Tomas, Nuyens, Dieter, Vandenberk, Bert, Haemers, Peter, Breckpot, Jeroen, Garweg, Christophe, Ector, Joris, Willems, Rik
Publicado 2023

RF02 | PMON323 Pituitary stalk interruption syndrome, polydactyly, polymicrogyria and a ZRSR2 variant

por Jacobs, An, Hannes, Laurens, Rochtus, Anne, Casteels, Kristina, Atzori, Marta, Attanasio, Catia, Pelgrims, Elise, Breckpot, Jeroen, de Zegher, Francis
Publicado 2022

Language Profiles of School-Aged Children with 22q11.2 Copy Number Variants

por Verbesselt, Jente, Solot, Cynthia B., Van Den Heuvel, Ellen, Crowley, T. Blaine, Giunta, Victoria, Breckpot, Jeroen, McDonald-McGinn, Donna M., Zink, Inge, Swillen, Ann
Publicado 2023

Collaboratively charting the gene-to-phenotype network of human congenital heart defects

por Barriot, Roland, Breckpot, Jeroen, Thienpont, Bernard, Brohée, Sylvain, Van Vooren, Steven, Coessens, Bert, Tranchevent, Leon-Charles, Van Loo, Peter, Gewillig, Marc, Devriendt, Koenraad, Moreau, Yves
Publicado 2010

Compound heterozygous loss-of-function mutations in KIF20A are associated with a novel lethal congenital cardiomyopathy in two siblings

por Louw, Jacoba J., Nunes Bastos, Ricardo, Chen, Xiaowen, Verdood, Céline, Corveleyn, Anniek, Jia, Yaojuan, Breckpot, Jeroen, Gewillig, Marc, Peeters, Hilde, Santoro, Massimo M., Barr, Francis, Devriendt, Koenraad
Publicado 2018

Return of genetic and genomic research findings: experience of a pediatric biorepository

por Papaz, Tanya, Liston, Eriskay, Zahavich, Laura, Stavropoulos, Dimitri J., Jobling, Rebekah K., Kim, Raymond H., Reuter, Miriam, Miron, Anastasia, Oechslin, Erwin, Mondal, Tapas, Bergin, Lynn, Smythe, John F., Altamirano-Diaz, Luis, Lougheed, Jane, Yao, Roderick, Akinrinade, Oyediran, Breckpot, Jeroen, Mital, Seema
Publicado 2019

Systems genetics analysis identifies calcium-signaling defects as novel cause of congenital heart disease

por Izarzugaza, Jose M. G., Ellesøe, 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, Søren
Publicado 2020

Prenatal Screening and Diagnostic Considerations for 22q11.2 Microdeletions

por Blagowidow, Natalie, Nowakowska, Beata, Schindewolf, Erica, Grati, Francesca Romana, Putotto, Carolina, Breckpot, Jeroen, Swillen, Ann, Crowley, Terrence Blaine, Loo, Joanne C. Y., Lairson, Lauren A., Óskarsdóttir, Sólveig, Boot, Erik, Garcia-Minaur, Sixto, Cristina Digilio, Maria, Marino, Bruno, Coleman, Beverly, Moldenhauer, Julie S., Bassett, Anne S., McDonald-McGinn, Donna M.
Publicado 2023

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

Whole genome sequencing delineates regulatory, copy number, and cryptic splice variants in early onset cardiomyopathy

por Lesurf, Robert, Said, Abdelrahman, Akinrinade, Oyediran, Breckpot, Jeroen, Delfosse, Kathleen, Liu, Ting, Yao, Roderick, Persad, Gabrielle, McKenna, Fintan, Noche, Ramil R., Oliveros, Winona, Mattioli, Kaia, Shah, Shreya, Miron, Anastasia, Yang, Qian, Meng, Guoliang, Yue, Michelle Chan Seng, Sung, Wilson W. L., Thiruvahindrapuram, Bhooma, Lougheed, Jane, Oechslin, Erwin, Mondal, Tapas, Bergin, Lynn, Smythe, John, Jayappa, Shashank, Rao, Vinay J., Shenthar, Jayaprakash, Dhandapany, Perundurai S., Semsarian, Christopher, Weintraub, Robert G., Bagnall, Richard D., Ingles, Jodie, Melé, Marta, Maass, Philipp G., Ellis, James, Scherer, Stephen W., Mital, Seema
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

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

The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants

por Tatton-Brown, Katrina, Zachariou, Anna, Loveday, Chey, Renwick, Anthony, Mahamdallie, Shazia, Aksglaede, Lise, Baralle, Diana, Barge-Schaapveld, Daniela, Blyth, Moira, Bouma, Mieke, Breckpot, Jeroen, Crabb, Beau, Dabir, Tabib, Cormier-Daire, Valerie, Fauth, Christine, Fisher, Richard, Gener, Blanca, Goudie, David, Homfray, Tessa, Hunter, Matthew, Jorgensen, Agnete, Kant, Sarina G., Kirally-Borri, Cathy, Koolen, David, Kumar, Ajith, Labilloy, Anatalia, Lees, Melissa, Marcelis, Carlo, Mercer, Catherine, Mignot, Cyril, Miller, Kathryn, Neas, Katherine, Newbury-Ecob, Ruth, Pilz, Daniela T., Posmyk, Renata, Prada, Carlos, Ramsey, Keri, Randolph, Linda M., Selicorni, Angelo, Shears, Deborah, Suri, Mohnish, Temple, I. Karen, Turnpenny, Peter, Van Maldergem, Lionel, Varghese, Vinod, Veenstra-Knol, Hermine E., Yachelevich, Naomi, Yates, Laura, Rahman, Nazneen
Publicado 2018

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

European Heart Rhythm Association (EHRA)/Heart Rhythm Society (HRS)/Asia Pacific Heart Rhythm Society (APHRS)/Latin American Heart Rhythm Society (LAHRS) Expert Consensus Statement...

por Wilde, Arthur A. M., Semsarian, Christopher, Márquez, Manlio F., Sepehri Shamloo, Alireza, Ackerman, Michael J., Ashley, Euan A., Sternick Eduardo, Back, Barajas‐Martinez, Héctor, Behr, Elijah R., Bezzina, Connie R., Breckpot, Jeroen, Charron, Philippe, Chockalingam, Priya, Crotti, Lia, Gollob, Michael H., Lubitz, Steven, Makita, Naomasa, Ohno, Seiko, Ortiz‐Genga, Martín, Sacilotto, Luciana, Schulze‐Bahr, Eric, Shimizu, Wataru, Sotoodehnia, Nona, Tadros, Rafik, Ware, James S., Winlaw, David S., Kaufman, Elizabeth S., Aiba, Takeshi, Bollmann, Andreas, Choi, Jong‐Il, Dalal, Aarti, Darrieux, Francisco, Giudicessi, John, Guerchicoff, Mariana, Hong, Kui, Krahn, Andrew D., Mac Intyre, Ciorsti, Mackall, Judith A., Mont, Lluís, Napolitano, Carlo, Ochoa Juan, Pablo, Peichl, Petr, Pereira, Alexandre C., Schwartz, Peter J., Skinner, Jon, Stellbrink, Christoph, Tfelt‐Hansen, Jacob, Deneke, Thomas
Publicado 2022

European Heart Rhythm Association (EHRA)/Heart Rhythm Society (HRS)/Asia Pacific Heart Rhythm Society (APHRS)/Latin American Heart Rhythm Society (LAHRS) Expert Consensus Statement...

por Wilde, Arthur A M, Semsarian, Christopher, Márquez, Manlio F, Shamloo, Alireza Sepehri, Ackerman, Michael J, Ashley, Euan A, Sternick, Eduardo Back, Barajas-Martinez, Héctor, Behr, Elijah R, Bezzina, Connie R, Breckpot, Jeroen, Charron, Philippe, Chockalingam, Priya, Crotti, Lia, Gollob, Michael H, Lubitz, Steven, Makita, Naomasa, Ohno, Seiko, Ortiz-Genga, Martín, Sacilotto, Luciana, Schulze-Bahr, Eric, Shimizu, Wataru, Sotoodehnia, Nona, Tadros, Rafik, Ware, James S, Winlaw, David S, Kaufman, Elizabeth S, Aiba, Takeshi, Bollmann, Andreas, Choi, Jong Il, Dalal, Aarti, Darrieux, Francisco, Giudicessi, John, Guerchicoff, Mariana, Hong, Kui, Krahn, Andrew D, MacIntyre, Ciorsti, Mackall, Judith A, Mont, Lluís, Napolitano, Carlo, Ochoa, Juan Pablo, Peichl, Petr, Pereira, Alexandre C, Schwartz, Peter J, Skinner, Jon, Stellbrink, Christoph, Tfelt-Hansen, Jacob, Deneke, Thomas
Publicado 2022

Neuroimaging findings in Mowat–Wilson syndrome: a study of 54 patients

por Garavelli, Livia, Ivanovski, Ivan, Caraffi, Stefano Giuseppe, Santodirocco, Daniela, Pollazzon, Marzia, Cordelli, Duccio Maria, Abdalla, Ebtesam, Accorsi, Patrizia, Adam, Margaret P., Baldo, Chiara, Bayat, Allan, Belligni, Elga, Bonvicini, Federico, Breckpot, Jeroen, Callewaert, Bert, Cocchi, Guido, Cuturilo, Goran, Devriendt, Koenraad, Dinulos, Mary Beth, Djuric, Olivera, Epifanio, Roberta, Faravelli, Francesca, Formisano, Debora, Giordano, Lucio, Grasso, Marina, Grønborg, Sabine, Iodice, Alessandro, Iughetti, Lorenzo, Lacombe, Didier, Maggi, Massimo, Malbora, Baris, Mammi, Isabella, Moutton, Sebastien, Møller, Rikke, Muschke, Petra, Napoli, Manuela, Pantaleoni, Chiara, Pascarella, Rosario, Pellicciari, Alessandro, Poch-Olive, Maria Luisa, Raviglione, Federico, Rivieri, Francesca, Russo, Carmela, Savasta, Salvatore, Scarano, Gioacchino, Selicorni, Angelo, Silengo, Margherita, Sorge, Giovanni, Tarani, Luigi, Tone, Luis Gonzaga, Toutain, Annick, Trimouille, Aurelien, Valera, Elvis Terci, Vergano, Samantha Schrier, Zanotta, Nicoletta, Zollino, Marcella, Dobyns, William B, Paciorkowski, Alex R
Publicado 2017