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MYELOPROLIFERATIVE NEOPLASMS (MPN) DIAGNOSED IN CHILDHOOD AND ADOLESCENCE-PROSPECTIVE DATA ON CLINICAL AND GENETIC CHARACTERISTICS FROM THE GERMAN NATIONAL MPN CHILDHOOD REGISTRY Behrens, Yvonne Lisa; Reinkens, Thea; Hofmann, Winfried; Gumann, Amelie; Strasser, Renate; Wanjek, Paulin; Di Donato, Nataliya; Seitz, Lara; Pontones, Martina; Fahrmeier, Franziska; Hitz, Marc-Phillip; Wotschofsky, Zofia; Schlegelberger, Brigitte; Ripperger, Tim; Karow, Axel 分享 收藏
Long QT syndrome in children and adolescents: risk factors and outcomes in a large German cohort 儿童和青少年长QT综合征：德国大型队列中的危险因素和结局 Lippert, Lea; Burkard, Tobias; Markel, Franziska; Debus, Volker; Stute, Fridrike; Kamphues, Anna; Dalla Pozza, Robert; Rupp, Stefan; Gonzalez y Gonzalez, Maria B.; Junge, Claudia; Kanaan, Majed; Hoff, Kirstin; Hanser, Anja; Dittmann, Sven; Westphal, Dominik S.; Clauss, Sebastian; Kessner, Stefanie; Hitz, Marc-Phillip; Becker, Kolja; Kaeaeb, Stefan; Ewert, Peter; Hofbeck, Michael; Waellisch, Wolfgang; Dittrich, Sven; Uebing, Anselm; Neumann, Stephan; Nuernberg, Jan-Hendrik; Hebe, Joachim; Kozlik-Feldmann, Rainer; Beerbaum, Philipp; Kerst, Gunter; Kehl, Hans-Gerd; Schulze-Bahr, Eric; Gebauer, Roman; Hessling, Gabriele; Wolf, Cordula M. 分享 收藏
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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 分享 收藏
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Exome sequencing in individuals with cardiovascular laterality defects identifies potential candidate genes Breuer, Katinka; Riedhammer, Korbinian M.; Mueller, 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 分享 收藏
Germline variants in HEY2 functional domains lead to congenital heart defects and thoracic aortic aneurysms (vol 23, pg 103, 2021) van Walree, Eva S.; Dombrowsky, Gregor; Jansen, Iris E.; Mirkov, Masa Umicevic; Zwart, Rob; Ilgun, Aho; Guo, Dongchuan; Clur, Sally-Ann B.; Amin, Ahmed S.; Savage, Jeanne E.; van der Wal, Allard C.; Wais, Quinten; Maugeri, Alessandra; Wilsdon, Anna; Bu'Lock, Frances A.; Hurles, Matthew E.; Dittrich, Sven; Berger, Felix; Martinez, Enrique Audain; Christoffels, Vincent M.; Hitz, Marc-Philip; Milewicz, Dianna M.; Posthuma, Danille; Meijers-Heijboer, Hanne; Postma, Alex V.; Mathijssen, Inge B. 分享 收藏
Extensive identification of genes involved in congenital and structural heart disorders and cardiomyopathy Spielmann, Nadine; Miller, Gregor; Oprea, Tudor I.; Hsu, Chih-Wei; Fobo, Gisela; Frishman, Goar; Montrone, Corinna; Haseli Mashhadi, Hamed; Mason, Jeremy; Munoz Fuentes, Violeta; Leuchtenberger, Stefanie; Ruepp, Andreas; Wagner, Matias; Westphal, Dominik S.; Wolf, Cordula; Goerlach, Agnes; Sanz-Moreno, Adrian; Cho, Yi-Li; Teperino, Raffaele; Brandmaier, Stefan; Sharma, Sapna; Galter, Isabella Rikarda; Oestereicher, Manuela A.; Zapf, Lilly; Mayer-Kuckuk, Philipp; Rozman, Jan; Teboul, Lydia; Bunton-Stasyshyn, Rosie K. A.; Cater, Heather; Stewart, Michelle; Christou, Skevoulla; Westerberg, Henrik; Willett, Amelia M.; Wotton, Janine M.; Roper, Willson B.; Christiansen, Audrey E.; Ward, Christopher S.; Heaney, Jason D.; Reynolds, Corey L.; Prochazka, Jan; Bower, Lynette; Clary, David; Selloum, Mohammed; Bou About, Ghina; Wendling, Olivia; Jacobs, Hugues; Leblanc, Sophie; Meziane, Hamid; Sorg, Tania; Audain, Enrique; Gilly, Arthur; Rayner, Nigel W.; Aguilar-Pimentel, Juan A.; Becker, Lore; Garrett, Lillian; Hoelter, Sabine M.; Amarie, Oana V.; Calzada-Wack, Julia; Klein-Rodewald, Tanja; da Silva-Buttkus, Patricia; Lengger, Christoph; Stoeger, Claudia; Gerlini, Raffaele; Rathkolb, Birgit; Mayr, Daniela; Seavitt, John; Gaspero, Angelina; Green, Jennie R.; Garza, Arturo; Bohat, Ritu; Wong, Leeyean; Mcelwee, Melissa L.; Kalaga, Sowmya; Rasmussen, Tara L.; Lorenzo, Isabel; Lanza, Denise G.; Samaco, Rodney C.; Veeraragaven, Surabi; Gallegos, Juan J.; Kasparek, Petr; Petrezselyova, Silvia; King, Ruairidh; Johnson, Sara; Cleak, James; Szkoe-Kovacs, Zsombor; Codner, Gemma; Mackenzie, Matthew; Caulder, Adam; Kenyon, Janet; Gardiner, Wendy; Phelps, Hayley; Hancock, Rhys; Norris, Claire; Moore, Michayla A.; Seluke, Audrie M.; Urban, Rachel; Kane, Coleen; Goodwin, Leslie O.; Peterson, Kevin A.; Mckay, Matthew; Cook, Jenn J.; Lowy, Jacob P.; Mcfarland, Michael; Wood, Joshua A.; Willis, Brandon J.; Tolentino, Heather; Tolentino, Todd; Schuchbauer, Michael; Salazar, Jason; Johnson, Jennifer; Munson, Rebecca; Ayadi, Abdel; Pavlovic, Guillaume; Birling, Marie-Christine; Jacquot, Sylvie; Ali-Hadji, Dalila; Charles, Philippe; Andre, Philippe; Champy, Marie-France; Riet, Fabrice; Vukobradovic, Igor; Berberovic, Zorana; Qu, Dawei; Guo, Ruolin; D'Souza, Abigail; Huang, Ziyue; Camilleri, Susan; Ganguly, Milan; Adissu, Hibret; Eskandarian, Mohammed; Shang, Xueyuan; Duffin, Kyle; Xu, Catherine; Roberton, Kyle; Laurin, Valerie; Lan, Qing; Sleep, Gillian; Creighton, Amie; Lintott, Lauri; Gertsenstein, Marina; Pereira, Monica; Tondat, Sandra; Patel, Amit; Cruz, Maribelle; Bezginov, Alex; Miller, David; Hy, Wang; Yoshiki, Atsushi; Tanaka, Nobuhiko; Tamura, Masaru; Liu, Zhiwei; Ermakova, Olga; Ferrara, Anna; Fruscoloni, Paolo; Seisenberger, Claudia; Buerger, Antje; Giesert, Florian; Ambrose, J. C.; Gam, Arumu P.; Bevers, R.; Bleda, M.; Boardman-Pretty, F.; Boustred, C. R.; Brittain, H.; Caulfield, M. J.; Chan, G. C.; Fowler, T.; Giess, A.; Hamblin, A.; Henderson, S.; Hubbard, T. J. P.; Jackson, R.; Jones, L. J.; Kasperaviciute, D.; Kayikci, M.; Kousathanas, A.; Lahnstein, L.; Leigh, S. E. A.; Leong, I. U. S.; Lopez, F. J.; Maleady-Crowe, F.; Mcentagart, M.; Minneci, F.; Moutsianas, L.; Mueller, M.; Murugaesu, N.; Need, A. C.; O'Donovan, P.; Odhams, C. A.; Patch, C.; Perez-Gil, D.; Pereira, M. B.; Pullinger, J.; Rahim, T.; Rendon, A.; Rogers, T.; Savage, K.; Sawant, K.; Scott, R. H.; Siddiq, A.; Sieghart, A.; Smith, S. C.; Sosinsky, A.; Stuckey, A.; Tanguy, M.; Taylor-Tavares, A. L.; Thomas, E. R. A.; Thompson, S. R.; Tucci, A.; Welland, M. J.; Williams, E.; Witkowska, K.; Wood, S. M.; Hitz, Marc-Phillip; Zeggini, Eleftheria; Wolf, Eckhard; Sedlacek, Radislav; Murray, Steven A.; Svenson, Karen L.; Braun, Robert E.; White, Jaqueline K.; Kelsey, Lois; Gao, Xiang; Shiroishi, Toshihiko; Xu, Ying; Seong, Je Kyung; Mammano, Fabio; Tocchini-Valentini, Glauco P.; Beaudet, Arthur L.; Meehan, Terrence F.; Parkinson, Helen; Smedley, Damian; Mallon, Ann-Marie; Wells, Sara E.; Grallert, Harald; Wurst, Wolfgang; Marschall, Susan; Fuchs, Helmut; Brown, Steve D. M.; Flenniken, Ann M.; Nutter, Lauryl M. J.; Mckerlie, Colin; Herault, Yann; Lloyd, K. C. Kent; Dickinson, Mary E.; Gailus-Durner, Valerie; Hrabe de Angelis, Martin 分享 收藏
Common Genetic Variants Contribute to Risk of Transposition of the Great Arteries 常见的遗传变异会导致大动脉转位的风险 Skoric-Milosavljevic, 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; Muller-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; 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 Markus; 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-Blagojevic, Milena; Meitinger, Thomas; Oechslin, Erwin; Mondal, Tapas; Bergin, M. 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. 分享 收藏
Experimental paper The emergency medical service has a crucial role to unravel the genetics of sudden cardiac arrest in young, out of hospital resuscitated patients Interim data from the MAP-IT study Tiesmeier, Jens; Gaertner, Anna; Homm, Soren; Jakob, Thomas; Stanasiuk, Caroline; Bachmann-Mennenga, Bernd; Henzler, Dietrich; Grautoff, Steffen; Veit, Gunter; Hori, Erika; Kellner, Udo; Gummert, Jan F.; Hitz, Marc P.; Kostareva, Anna; Klingel, Karin; Paluszkiewicz, Lech; Laser, Kai Thorsten; Pfeiffer, Heidi; Fox, Henrik; Milting, Hendrik 分享 收藏
Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot (Jun, 10.1038/ s41436-021-01212-y, 2021) 编码VEGF受体2的KDR的罕见变异与法洛四联症有关 (6月，10.1038/ s41436-021-01212-y，2021) Skoric-Milosavljevic, 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; Hitz, Marc-Phillip; Abdul-Khaliq, Hashim; Berger, Felix; Dahnert, 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. 分享 收藏
Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart disease (vol 17, e1009679, 2021) 基因组变异的综合分析揭示了候选单倍体不足基因与先天性心脏病的新关联 (第17卷，e1009679，2021) Audain, Enrique; Wilsdon, Anna; Breckpot, Jeroen; Izarzugaza, Jose M. G.; Fitzgerald, Tomas W.; Kahlert, Anne-Karin; Sifrim, Alejandro; Wunnemann, 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 E. F.; 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 分享 收藏
Germline variants inHEY2functional domains lead to congenital heart defects and thoracic aortic aneurysms van Walree, Eva S.; Dombrowsky, Gregor; Jansen, Iris E.; Mirkov, Masa Umicevic; Zwart, Rob; Ilgun, Aho; Guo, Dongchuan; Clur, Sally-Ann B.; Amin, Ahmed S.; Savage, Jeanne E.; van der Wal, Allard C.; Waisfisz, Quinten; Maugeri, Alessandra; Wilsdon, Anna; Bu'Lock, Frances A.; Hurles, Matthew E.; Dittrich, Sven; Berger, Felix; Audain Martinez, Enrique; Christoffels, Vincent M.; Hitz, Marc-Philip; Milewicz, Dianna M.; Posthuma, Danielle; Meijers-Heijboer, Hanne; Postma, Alex V.; Mathijssen, Inge B. 分享 收藏
Systems genetics analysis identifies calcium-signaling defects as novel cause of congenital heart disease Izarzugaza, Jose M. G.; Ellesoe, 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, Soren 分享 收藏
Loss of ADAMTS19 causes progressive non-syndromic heart valve disease Wuennemann, 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; Puceat, Michel; Elpeleg, Orly; Hitz, Marc-Phillip; Andelfinger, Gregor; Dietz, Harry C.; McCallion, Andrew S.; Loeys, Bart L.; Van Laer, Lut; Eriksson, Per; Mohamed, Salah A.; Mertens, Luc; Franco-Cereceda, Anders; Mital, Seema 分享 收藏
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