Search Results - Marc-Phillip Hitz

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  1. 1

    Recent advances in congenital heart disease genomics [version 1; referees: 2 approved] by Anna Wilsdon, Alejandro Sifrim, Marc-Phillip Hitz, Matthew Hurles, J. David Brook

    Published in F1000Research (2017-06-01)
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  2. 2

    Accurate and fast feature selection workflow for high-dimensional omics data. by Yasset Perez-Riverol, Max Kuhn, Juan Antonio Vizcaíno, Marc-Phillip Hitz, Enrique Audain

    Published in PLoS ONE (2017-01-01)
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  3. 3

    Notch3 is an asymmetric gene and a modifier of heart looping defects in Nodal mouse mutants. by Tobias Holm Bønnelykke, Marie-Amandine Chabry, Emeline Perthame, Gregor Dombrowsky, Felix Berger, Sven Dittrich, Marc-Phillip Hitz, Audrey Desgrange, Sigolène M Meilhac

    Published in PLoS Biology (2025-03-01)
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  4. 4

    Case Report: Heterozygous ADAR c.3019G>A pathogenic variant associated with variable neurological symptoms and incomplete penetrance in a four-generational family by Ann-Kathrin Bauer, Iris Marquardt, Benedikt Sundermann, Christine Wolf, Katrin Raupach, Kathrin Grundmann-Hauser, Laura Gieldon, Maximilian Otterbach, Martin Maurer, Tobias Haack, Min Ae Lee-Kirsch, Georg-Christoph Korenke, Marc-Phillip Hitz

    Published in Frontiers in Immunology (2025-07-01)
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  5. 5

    A validated heart-specific model for splice-disrupting variants in childhood heart disease by Robert Lesurf, Jeroen Breckpot, Jade Bouwmeester, Nour Hanafi, Anjali Jain, Yijing Liang, Tanya Papaz, Jane Lougheed, Tapas Mondal, Mahmoud Alsalehi, Luis Altamirano-Diaz, Erwin Oechslin, Enrique Audain, Gregor Dombrowsky, Alex V. Postma, Odilia I. Woudstra, Berto J. Bouma, Marc-Phillip Hitz, Connie R. Bezzina, Gillian M. Blue, David S. Winlaw, Seema Mital

    Published in Genome Medicine (2024-10-01)
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  6. 6

    Rare copy number variants contribute to congenital left-sided heart disease. by Marc-Phillip Hitz, Louis-Philippe Lemieux-Perreault, Christian Marshall, Yassamin Feroz-Zada, Robbie Davies, Shi Wei Yang, Anath Christopher Lionel, Guylaine D'Amours, Emmanuelle Lemyre, Rebecca Cullum, Jean-Luc Bigras, Maryse Thibeault, Philippe Chetaille, Alexandre Montpetit, Paul Khairy, Bert Overduin, Sabine Klaassen, Pamela Hoodless, Philip Awadalla, Julie Hussin, Youssef Idaghdour, Mona Nemer, Alexandre F R Stewart, Cornelius Boerkoel, Stephen W Scherer, Andrea Richter, Marie-Pierre Dubé, Gregor Andelfinger

    Published in PLoS Genetics (2012-09-01)
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  7. 7

    Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart disease. by Enrique Audain, Anna Wilsdon, Jeroen Breckpot, Jose M G Izarzugaza, Tomas W Fitzgerald, Anne-Karin Kahlert, Alejandro Sifrim, Florian Wünnemann, Yasset Perez-Riverol, Hashim Abdul-Khaliq, Mads Bak, Anne S Bassett, D Woodrow Benson, Felix Berger, Ingo Daehnert, Koenraad Devriendt, Sven Dittrich, Piers Ef Daubeney, Vidu Garg, Karl Hackmann, Kirstin Hoff, Philipp Hofmann, Gregor Dombrowsky, Thomas Pickardt, Ulrike Bauer, Bernard D Keavney, Sabine Klaassen, Hans-Heiner Kramer, Christian R Marshall, Dianna M Milewicz, Scott Lemaire, Joseph S Coselli, Michael E Mitchell, Aoy Tomita-Mitchell, Siddharth K Prakash, Karl Stamm, Alexandre F R Stewart, Candice K Silversides, Reiner Siebert, Brigitte Stiller, Jill A Rosenfeld, Inga Vater, Alex V Postma, Almuth Caliebe, J David Brook, Gregor Andelfinger, Matthew E Hurles, Bernard Thienpont, Lars Allan Larsen, Marc-Phillip Hitz

    Published in PLoS Genetics (2021-07-01)
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  8. 8

    Correction: Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart disease. by Enrique Audain, Anna Wilsdon, Jeroen Breckpot, Jose M G Izarzugaza, Tomas W Fitzgerald, Anne-Karin Kahlert, Alejandro Sifrim, Florian Wünnemann, Yasset Perez-Riverol, Hashim Abdul-Khaliq, Mads Bak, Anne S Bassett, D Woodrow Benson, Felix Berger, Ingo Daehnert, Koenraad Devriendt, Sven Dittrich, Piers Ef Daubeney, Vidu Garg, Karl Hackmann, Kirstin Hoff, Philipp Hofmann, Gregor Dombrowsky, Thomas Pickardt, Ulrike Bauer, Bernard D Keavney, Sabine Klaassen, Hans-Heiner Kramer, Christian R Marshall, Dianna M Milewicz, Scott Lemaire, Joseph S Coselli, Michael E Mitchell, Aoy Tomita-Mitchell, Siddharth K Prakash, Karl Stamm, Alexandre F R Stewart, Candice K Silversides, Reiner Siebert, Brigitte Stiller, Jill A Rosenfeld, Inga Vater, Alex V Postma, Almuth Caliebe, J David Brook, Gregor Andelfinger, Matthew E Hurles, Bernard Thienpont, Lars Allan Larsen, Marc-Phillip Hitz

    Published in PLoS Genetics (2021-09-01)
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