Effect of deletion of the protein kinase PRKD1 on development of the mouse embryonic heart
Waheed‐Ullah, Qazi, Wilsdon, Anna, Abbad, Aseel, Rochette, Sophie, Bu'Lock, Frances, Hitz, Marc‐Phillip, Dombrowsky, Gregor, Cuello, Friederike, Brook, J. David, Loughna, Siobhan
Published in Journal of anatomy (01.07.2024)
Published in Journal of anatomy (01.07.2024)
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Accurate and fast feature selection workflow for high-dimensional omics data
Perez-Riverol, Yasset, Kuhn, Max, Vizcaíno, Juan Antonio, Hitz, Marc-Phillip, Audain, Enrique
Published in PloS one (20.12.2017)
Published in PloS one (20.12.2017)
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Systems genetics analysis identifies calcium-signaling defects as novel cause of congenital heart disease
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
Published in Genome medicine (28.08.2020)
Published in Genome medicine (28.08.2020)
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Genetic Screening Reveals Heterogeneous Clinical Phenotypes in Patients with Dilated Cardiomyopathy and Troponin T2 Variants
Weis, Angelika, Krueck, Svenja, Dombrowsky, Gregor, Schänzer, Anne, Jux, Christian, Uebing, Anselm, Voges, Inga, Hitz, Marc-Phillip, Rupp, Stefan
Published in Journal of personalized medicine (31.03.2023)
Published in Journal of personalized medicine (31.03.2023)
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DNA methylation profiling allows for characterization of atrial and ventricular cardiac tissues and hiPSC-CMs
Hoff, Kirstin, Lemme, Marta, Kahlert, Anne-Karin, Runde, Kerstin, Audain, Enrique, Schuster, Dorit, Scheewe, Jens, Attmann, Tim, Pickardt, Thomas, Caliebe, Almuth, Siebert, Reiner, Kramer, Hans-Heiner, Milting, Hendrik, Hansen, Arne, Ammerpohl, Ole, Hitz, Marc-Phillip
Published in Clinical epigenetics (11.06.2019)
Published in Clinical epigenetics (11.06.2019)
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Patients with congenital heart defect and their families support genetic heart research
Helm, Paul C, Bauer, Ulrike M M, Abdul-Khaliq, Hashim, Baumgartner, Helmut, Kramer, Hans-Heiner, Schlensak, Christian, Pickardt, Thomas, Kahlert, Anne-Karin, Hitz, Marc-Phillip
Published in Congenital heart disease (01.09.2018)
Published in Congenital heart disease (01.09.2018)
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Recent advances in congenital heart disease genomics
Wilsdon, Anna, Sifrim, Alejandro, Hitz, Marc-Phillip, Hurles, Matthew, Brook, J David
Published in F1000 research (2017)
Published in F1000 research (2017)
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Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing
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
Published in Nature genetics (01.09.2016)
Published in Nature genetics (01.09.2016)
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STIGMA: Single-cell tissue-specific gene prioritization using machine learning
Balachandran, Saranya, Prada-Medina, Cesar A., Mensah, Martin A., Glaser, Juliane, Kakar, Naseebullah, Nagel, Inga, Pozojevic, Jelena, Audain, Enrique, Hitz, Marc-Phillip, Kircher, Martin, Sreenivasan, Varun K.A., Spielmann, Malte
Published in American journal of human genetics (01.02.2024)
Published in American journal of human genetics (01.02.2024)
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Rare Variants in NR2F2 Cause Congenital Heart Defects in Humans
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.
Published in American journal of human genetics (03.04.2014)
Published in American journal of human genetics (03.04.2014)
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Journal Article
Loss of ADAMTS19 causes progressive non-syndromic heart valve disease
Wünnemann, Florian, Ta-Shma, Asaf, Preuss, Christoph, Leclerc, Severine, van Vliet, Patrick Piet, Oneglia, Andrea, Thibeault, Maryse, Nordquist, Emily, Lincoln, Joy, Scharfenberg, Franka, Becker-Pauly, Christoph, Hofmann, Philipp, Hoff, Kirstin, Audain, Enrique, Kramer, Hans-Heiner, Makalowski, Wojciech, Nir, Amiram, Gerety, Sebastian S., Hurles, Matthew, Comes, Johanna, Fournier, Anne, Osinska, Hanna, Robins, Jeffrey, Pucéat, Michel, Elpeleg, Orly, Hitz, Marc-Phillip, Andelfinger, Gregor
Published in Nature genetics (01.01.2020)
Published in Nature genetics (01.01.2020)
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The omics discovery REST interface
Dass, Gaurhari, Vu, Manh-Tu, Xu, Pan, Audain, Enrique, Hitz, Marc-Phillip, Grüning, Björn A, Hermjakob, Henning, Perez-Riverol, Yasset
Published in Nucleic acids research (02.07.2020)
Published in Nucleic acids research (02.07.2020)
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Exome sequencing in individuals with cardiovascular laterality defects identifies potential candidate genes
Breuer, Katinka, Riedhammer, Korbinian M, Müller, Nicole, Schaidinger, Birthe, Dombrowsky, Gregor, Dittrich, Sven, Zeidler, Susanne, Bauer, Ulrike M M, Westphal, Dominik S, Meitinger, Thomas, Dakal, Tikam Chand, Hitz, Marc-Phillip, Breuer, Johannes, Reutter, Heiko, Hilger, Alina C, Hoefele, Julia
Published in European journal of human genetics : EJHG (01.08.2022)
Published in European journal of human genetics : EJHG (01.08.2022)
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Journal Article
Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart disease
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
Published in PLoS genetics (29.07.2021)
Published in PLoS genetics (29.07.2021)
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Journal Article
Rare copy number variants contribute to congenital left-sided heart disease
Hitz, Marc-Phillip, Lemieux-Perreault, Louis-Philippe, Marshall, Christian, Feroz-Zada, Yassamin, Davies, Robbie, Yang, Shi Wei, Lionel, Anath Christopher, D'Amours, Guylaine, Lemyre, Emmanuelle, Cullum, Rebecca, Bigras, Jean-Luc, Thibeault, Maryse, Chetaille, Philippe, Montpetit, Alexandre, Khairy, Paul, Overduin, Bert, Klaassen, Sabine, Hoodless, Pamela, Awadalla, Philip, Hussin, Julie, Idaghdour, Youssef, Nemer, Mona, Stewart, Alexandre F R, Boerkoel, Cornelius, Scherer, Stephen W, Richter, Andrea, Dubé, Marie-Pierre, Andelfinger, Gregor
Published in PLoS genetics (01.09.2012)
Published in PLoS genetics (01.09.2012)
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Correction: Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart disease
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
Published in PLoS genetics (21.09.2021)
Published in PLoS genetics (21.09.2021)
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Journal Article
Levosimendan for bridging in a pediatric patient with Alström syndrome awaiting heart-lung transplantation
Hitz, Marc-Phillip MD, Bertram, Harald MD, Köditz, Harald MD, Görler, Heidi MD, Happel, Christoph M. MD, PhD, Wessel, Armin MD, PhD, Yelbuz, T. Mesud MD, PhD
Published in Clinical research in cardiology (01.11.2008)
Published in Clinical research in cardiology (01.11.2008)
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