GATA6 mutations: Characterization of two novel patients and a comprehensive overview of the GATA6 genotypic and phenotypic spectrum
Škorić‐Milosavljević, Doris, Tjong, Fleur V. Y., Barc, Julien, Backx, Ad P. C. M., Clur, Sally‐Ann B., Spaendonck‐Zwarts, Karin, Oostra, Roelof‐Jan, Lahrouchi, Najim, Beekman, Leander, Bökenkamp, Regina, Barge‐Schaapveld, Daniela Q. C. M., Mulder, Barbara J., Lodder, Elisabeth M., Bezzina, Connie R., Postma, Alex V.
Published in American journal of medical genetics. Part A (01.09.2019)
Published in American journal of medical genetics. Part A (01.09.2019)
Get full text
Journal Article
Two cases of RIT1 associated Noonan syndrome: Further delineation of the clinical phenotype and review of the literature
Milosavljević, Doris, Overwater, Eline, Tamminga, Saskia, de Boer, Karin, Elting, Mariet W., van Hoorn, Marion E., Rinne, Tuula, Houweling, Arjan C.
Published in American journal of medical genetics. Part A (01.07.2016)
Published in American journal of medical genetics. Part A (01.07.2016)
Get full text
Journal Article
Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot
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.
Published in Genetics in medicine (01.10.2021)
Published in Genetics in medicine (01.10.2021)
Get full text
Journal Article
Yield and Pitfalls of Ajmaline Testing in the Evaluation of Unexplained Cardiac Arrest and Sudden Unexplained Death
Tadros, Rafik, Nannenberg, Eline A., Lieve, Krystien V., Škorić-Milosavljević, Doris, Lahrouchi, Najim, Lekanne Deprez, Ronald H., Vendrik, Jeroen, Reckman, Yolan J., Postema, Pieter G., Amin, Ahmad S., Bezzina, Connie R., Wilde, Arthur A.M., Tan, Hanno L.
Published in JACC. Clinical electrophysiology (01.12.2017)
Published in JACC. Clinical electrophysiology (01.12.2017)
Get full text
Journal Article
Yield and Pitfalls of Ajmaline Testing in the Evaluation of Unexplained Cardiac Arrest and Sudden Unexplained Death: Single-Center Experience With 482 Families
Tadros, Rafik, Nannenberg, Eline A, Lieve, Krystien V, Škorić-Milosavljević, Doris, Lahrouchi, Najim, Lekanne Deprez, Ronald H, Vendrik, Jeroen, Reckman, Yolan J, Postema, Pieter G, Amin, Ahmad S, Bezzina, Connie R, Wilde, Arthur A M, Tan, Hanno L
Published in JACC. Clinical electrophysiology (11.12.2017)
Published in JACC. Clinical electrophysiology (11.12.2017)
Get full text
Journal Article
Correction to: Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot
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.
Published in Genetics in medicine (01.10.2021)
Published in Genetics in medicine (01.10.2021)
Get full text
Journal Article
Biallelic loss-of-function variants in PLD1 cause congenital right-sided cardiac valve defects and neonatal cardiomyopathy
Lahrouchi, Najim, Postma, Alex V, Salazar, Christian M, De Laughter, Daniel M, Tjong, Fleur, Piherová, Lenka, Bowling, Forrest Z, Zimmerman, Dominic, Lodder, Elisabeth M, Ta-Shma, Asaf, Perles, Zeev, Beekman, Leander, Ilgun, Aho, Gunst, Quinn, Hababa, Mariam, Škorić-Milosavljević, Doris, Stránecký, Viktor, Tomek, Viktor, de Knijff, Peter, de Leeuw, Rick, Robinson, Jamille Y, Burn, Sabrina C, Mustafa, Hiba, Ambrose, Matthew, Moss, Timothy, Jacober, Jennifer, Niyazov, Dmitriy M, Wolf, Barry, Kim, Katherine H, Cherny, Sara, Rousounides, Andreas, Aristidou-Kallika, Aphrodite, Tanteles, George, Ange-Line, Bruel, Denommé-Pichon, Anne-Sophie, Francannet, Christine, Ortiz, Damara, Haak, Monique C, Ten Harkel, Arend D.J., Manten, Gwendolyn Tr, Dutman, Annemiek C, Bouman, Katelijne, Magliozzi, Monia, Radio, Francesca Clementina, Santen, Gijs We, Herkert, Johanna C, Brown, H Alex, Elpeleg, Orly, van den Hoff, Maurice Jb, Mulder, Barbara, Airola, Michael V, Kmoch, Stanislav, Barnett, Joey V, Clur, Sally-Ann, Frohman, Michael A, Bezzina, Connie R
Published in The Journal of clinical investigation (01.03.2021)
Published in The Journal of clinical investigation (01.03.2021)
Get full text
Journal Article
Common genetic variants improve risk stratification after the atrial switch operation for transposition of the great arteries
Woudstra, Odilia I., Skoric-Milosavljevic, Doris, Mulder, Barbara J.M., Meijboom, Folkert J., Post, Marco C., Jongbloed, Monique R.M., van Dijk, Arie P.J., van Melle, Joost P., Konings, Thelma C., Postma, Alex V., Bezzina, Connie R., Bouma, Berto J., Tanck, Michael W.T.
Published in International journal of cardiology (15.01.2023)
Published in International journal of cardiology (15.01.2023)
Get full text
Journal Article
Genetic Burden of TNNI3K in Diagnostic Testing of Patients With Dilated Cardiomyopathy and Supraventricular Arrhythmias
Pham, Caroline, Andrzejczyk, Karolina, Jurgens, Sean J, Deprez, Ronald Lekanne, Palm, Kaylin C A, Vermeer, Alexa M C, Nijman, Janneke, Christiaans, Imke, van Dessel, Pascal F H M, Beekman, Leander, Choi, Seung Hoan, Lubitz, Steven A, Skoric-Milosavljevic, Doris, van den Bersselaar, Lisa, Jansen, Philip R, Copier, Jaël S, Ellinor, Patrick T, Wilde, Arthur A M, Bezzina, Connie R, Lodder, Elisabeth M
Published in Circulation. Cardiovascular genetics (01.08.2023)
Published in Circulation. Cardiovascular genetics (01.08.2023)
Get full text
Journal Article
SCN5A Mutation Type and a Genetic Risk Score Associate Variably With Brugada Syndrome Phenotype in SCN5A Families
Wijeyeratne, Yanushi D, Tanck, Michael W, Mizusawa, Yuka, Batchvarov, Velislav, Barc, Julien, Crotti, Lia, Bos, J Martijn, Tester, David J, Muir, Alison, Veltmann, Christian, Ohno, Seiko, Page, Stephen P, Galvin, Joseph, Tadros, Rafik, Muggenthaler, Martina, Raju, Hariharan, Denjoy, Isabelle, Schott, Jean-Jacques, Gourraud, Jean-Baptiste, Skoric-Milosavljevic, Doris, Nannenberg, Eline A, Redon, Richard, Papadakis, Michael, Kyndt, Florence, Dagradi, Federica, Castelletti, Silvia, Torchio, Margherita, Meitinger, Thomas, Lichtner, Peter, Ishikawa, Taisuke, Wilde, Arthur A M, Takahashi, Kazuhiro, Sharma, Sanjay, Roden, Dan M, Borggrefe, Martin M, McKeown, Pascal P, Shimizu, Wataru, Horie, Minoru, Makita, Naomasa, Aiba, Takeshi, Ackerman, Michael J, Schwartz, Peter J, Probst, Vincent, Bezzina, Connie R, Behr, Elijah R
Published in Circulation. Genomic and precision medicine (01.12.2020)
Published in Circulation. Genomic and precision medicine (01.12.2020)
Get more information
Journal Article