Recent advances in congenital heart disease genomics

por Wilsdon, Anna, Sifrim, Alejandro, Hitz, Marc-Phillip, Hurles, Matthew, Brook, J. David
Publicado 2017

Accurate and fast feature selection workflow for high-dimensional omics data

por Perez-Riverol, Yasset, Kuhn, Max, Vizcaíno, Juan Antonio, Hitz, Marc-Phillip, Audain, Enrique
Publicado 2017

Genetic Screening Reveals Heterogeneous Clinical Phenotypes in Patients with Dilated Cardiomyopathy and Troponin T2 Variants

por Weis, Angelika, Krueck, Svenja, Dombrowsky, Gregor, Schänzer, Anne, Jux, Christian, Uebing, Anselm, Voges, Inga, Hitz, Marc-Phillip, Rupp, Stefan
Publicado 2023

The omics discovery REST interface

por Dass, Gaurhari, Vu, Manh-Tu, Xu, Pan, Audain, Enrique, Hitz, Marc-Phillip, Grüning, Björn A, Hermjakob, Henning, Perez-Riverol, Yasset
Publicado 2020

The analysis of heterotaxy patients reveals new loss-of-function variants of GRK5

por Lessel, Davor, Muhammad, Tariq, Casar Tena, Teresa, Moepps, Barbara, Burkhalter, Martin D., Hitz, Marc-Phillip, Toka, Okan, Rentzsch, Axel, Schubert, Stephan, Schalinski, Adelheid, Bauer, Ulrike M. M., Kubisch, Christian, Ware, Stephanie M., Philipp, Melanie
Publicado 2016

DNA methylation profiling allows for characterization of atrial and ventricular cardiac tissues and hiPSC-CMs

por 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
Publicado 2019

Exome sequencing in individuals with cardiovascular laterality defects identifies potential candidate genes

por 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
Publicado 2022

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

Rare Copy Number Variants Contribute to Congenital Left-Sided Heart Disease

por 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, Nemer, Mona, Stewart, Alexandre F. R., Boerkoel, Cornelius, Scherer, Stephen W., Richter, Andrea, Dubé, Marie-Pierre, Andelfinger, Gregor
Publicado 2012

Correction: Rare Copy Number Variants Contribute to Congenital Left-Sided Heart Disease

por 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
Publicado 2013

Aberrant phase separation and nucleolar dysfunction in rare genetic diseases

por Mensah, Martin A., Niskanen, Henri, Magalhaes, Alexandre P., Basu, Shaon, Kircher, Martin, Sczakiel, Henrike L., Reiter, Alisa M. V., Elsner, Jonas, Meinecke, Peter, Biskup, Saskia, Chung, Brian H. Y., Dombrowsky, Gregor, Eckmann-Scholz, Christel, Hitz, Marc Phillip, Hoischen, Alexander, Holterhus, Paul-Martin, Hülsemann, Wiebke, Kahrizi, Kimia, Kalscheuer, Vera M., Kan, Anita, Krumbiegel, Mandy, Kurth, Ingo, Leubner, Jonas, Longardt, Ann Carolin, Moritz, Jörg D., Najmabadi, Hossein, Skipalova, Karolina, Snijders Blok, Lot, Tzschach, Andreas, Wiedersberg, Eberhard, Zenker, Martin, Garcia-Cabau, Carla, Buschow, René, Salvatella, Xavier, Kraushar, Matthew L., Mundlos, Stefan, Caliebe, Almuth, Spielmann, Malte, Horn, Denise, Hnisz, Denes
Publicado 2023

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

por 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, Woodrow D., 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
Publicado 2021

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

por 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
Publicado 2021

Enabling Global Clinical Collaborations on Identifiable Patient Data: The Minerva Initiative

por Nellåker, Christoffer, Alkuraya, Fowzan S., Baynam, Gareth, Bernier, Raphael A., Bernier, Francois P.J., Boulanger, Vanessa, Brudno, Michael, Brunner, Han G., Clayton-Smith, Jill, Cogné, Benjamin, Dawkins, Hugh J.S., deVries, Bert B.A., Douzgou, Sofia, Dudding-Byth, Tracy, Eichler, Evan E., Ferlaino, Michael, Fieggen, Karen, Firth, Helen V., FitzPatrick, David R., Gration, Dylan, Groza, Tudor, Haendel, Melissa, Hallowell, Nina, Hamosh, Ada, Hehir-Kwa, Jayne, Hitz, Marc-Phillip, Hughes, Mark, Kini, Usha, Kleefstra, Tjitske, Kooy, R Frank, Krawitz, Peter, Küry, Sébastien, Lees, Melissa, Lyon, Gholson J., Lyonnet, Stanislas, Marcadier, Julien L., Meyn, Stephen, Moslerová, Veronika, Politei, Juan M., Poulton, Cathryn C., Raymond, F Lucy, Reijnders, Margot R.F., Robinson, Peter N., Romano, Corrado, Rose, Catherine M., Sainsbury, David C.G., Schofield, Lyn, Sutton, Vernon R., Turnovec, Marek, Van Dijck, Anke, Van Esch, Hilde, Wilkie, Andrew O.M.
Publicado 2019

Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing

por Sifrim, Alejandro, Hitz, Marc-Phillip, Wilsdon, Anna, Breckpot, Jeroen, Al Turki, Saeed H., 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
Publicado 2016

Common Genetic Variants Contribute to Risk of Transposition of the Great Arteries

por Škorić-Milosavljević, Doris, Tadros, Rafik, Bosada, Fernanda M., Tessadori, Federico, van Weerd, Jan Hendrik, Woudstra, Odilia I., Tjong, Fleur V.Y., Lahrouchi, Najim, Bajolle, Fanny, Cordell, Heather J., Agopian, A.J., Blue, Gillian M., Barge-Schaapveld, Daniela Q.C.M., Gewillig, Marc, Preuss, Christoph, Lodder, Elisabeth M., Barnett, Phil, Ilgun, Aho, Beekman, Leander, van Duijvenboden, Karel, Bokenkamp, Regina, Müller-Nurasyid, Martina, Vliegen, Hubert W., Konings, Thelma C., van Melle, Joost P., van Dijk, Arie P.J., van Kimmenade, Roland R.J., Roos-Hesselink, Jolien W., Sieswerda, Gertjan T., Meijboom, Folkert, Abdul-Khaliq, Hashim, Berger, Felix, Dittrich, Sven, Hitz, Marc-Phillip, Moosmann, Julia, Riede, Frank-Thomas, Schubert, Stephan, Galan, Pilar, Lathrop, Mark, Munter, Hans M., Al-Chalabi, Ammar, Shaw, Christopher E., Shaw, Pamela J., Morrison, Karen E., Veldink, Jan H., van den Berg, Leonard H., Evans, Sylvia, Nobrega, Marcelo A., Aneas, Ivy, Radivojkov-Blagojević, Milena, Meitinger, Thomas, Oechslin, Erwin, Mondal, Tapas, Bergin, Lynn, Smythe, John F., Altamirano-Diaz, Luis, Lougheed, Jane, Bouma, Berto J., Chaix, Marie-A., Kline, Jennie, Bassett, Anne S., Andelfinger, Gregor, van der Palen, Roel L.F., Bouvagnet, Patrice, Clur, Sally-Ann B., Breckpot, Jeroen, Kerstjens-Frederikse, Wilhelmina S., Winlaw, David S., Bauer, Ulrike M.M., Mital, Seema, Goldmuntz, Elizabeth, Keavney, Bernard, Bonnet, Damien, Mulder, Barbara J., Tanck, Michael W.T., Bakkers, Jeroen, Christoffels, Vincent M., Boogerd, Cornelis J., Postma, Alex V., Bezzina, Connie R.
Publicado 2021