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Cuinat, Silvestre; Chatron, Nicolas; Petit, Florence; Brunelle, Perrine; Dincuff, Etienne; Aubert Mucca, Marion; Bieth, Eric; Schmetz, Ariane; Rieder, Harald; Wollnik, Bernd; Kaulfuss, Silke; Yigit, Goekhan; Mckeown, Colina; Savage, Tim; Mulligan, Meghan R.; Bicknell, Louise S.; Corsten-Janssen, Nicole; Edery, Patrick; Lesca, Gaetan; de Villartay, Jean-Pierre; Putoux, Audrey Share Save Reliability of high-quantity human brain organoids for modeling microcephaly, glioma invasion and drug screening (vol 15, 10703, 2024)Ramani, Anand; Pasquini, Giovanni; Gerkau, Niklas J.; Jadhav, Vaibhav; Vinchure, Omkar Suhas; Altinisik, Nazlican; Windoffer, Hannes; Muller, Sarah; Rothenaigner, Ina; Lin, Sean; Mariappan, Aruljothi; Rathinam, Dhanasekaran; Mirsaidi, Ali; Goureau, Olivier; Ricci-Vitiani, Lucia; D'Alessandris, Quintino Giorgio; Wollnik, Bernd; Muotri, Alysson; Freifeld, Limor; Jurisch-Yaksi, Nathalie; Pallini, Roberto; Rose, Christine R.; Busskamp, Volker; Gabriel, Elke; Gopalakrishnan, Jay Share Save Phenotypes Linked to Duplication Upstream of SOX9: New Insights Into Presentation and DiagnosisUnal, Edip; Tekmenuray-Unal, Aysel; Cayir, Atilla; Papatya Cakir, Esra Deniz; Beyazit, Nurcan; Kolbasi, Baris; Gurpinar Tosun, Busra; Yigit, Gokhan; Zibat, Arne; Wollnik, Bernd; Demirbilek, Huseyin; Guran, Tulay Share Save Reliability of high-quantity human brain organoids for modeling microcephaly, glioma invasion and drug screeningRamani, Anand; Pasquini, Giovanni; Gerkau, Niklas J.; Jadhav, Vaibhav; Vinchure, Omkar Suhas; Altinisik, Nazlican; Windoffer, Hannes; Muller, Sarah; Rothenaigner, Ina; Lin, Sean; Mariappan, Aruljothi; Rathinam, Dhanasekaran; Mirsaidi, Ali; Goureau, Olivier; Ricci-Vitiani, Lucia; D'Alessandris, Quintino Giorgio; Wollnik, Bernd; Muotri, Alysson; Freifeld, Limor; Jurisch-Yaksi, Nathalie; Pallini, Roberto; Rose, Christine R.; Busskamp, Volker; Gabriel, Elke; Hadian, Kamyar; Gopalakrishnan, Jay Share Save KRASG12C-inhibitor-based combination therapies for pancreatic cancer: insights from drug screeningContreras, Constanza Tapia; Falke, Jonas Dominik; Seifert, Dana-Magdalena; Schneider, Carolin; Krauss, Lukas; Fang, Xin; Mueller, Denise; Demirdizen, Engin; Spitzner, Melanie; De Oliveira, Tiago; Schneeweis, Christian; Gaedcke, Jochen; Kaulfuss, Silke; Mirzakhani, Kimia; Wollnik, Bernd; Conrads, Karly; Beissbarth, Tim; Salinas, Gabriela; Huegel, Jonas; Beyer, Nils; Rheinlander, Sophia; Sax, Ulrich; Wirth, Matthias; Conradi, Lena-Christin; Reichert, Maximilian; Ellenrieder, Volker; Strobel, Philipp; Ghadimi, Michael; Grade, Marian; Saur, Dieter; Hessmann, Elisabeth; Schneider, Gunter Share Save Mutation-induced LZTR1 polymerization provokes cardiac pathology in recessive Noonan syndromeBusley, Alexandra Viktoria; Gutierrez-Gutierrez, Oscar; Hammer, Elke; Koitka, Fabian; Mirzaiebadizi, Amin; Steinegger, Martin; Pape, Constantin; Boehmer, Linda; Schroeder, Henning; Kleinsorge, Mandy; Engler, Melanie; Cirstea, Ion Cristian; Gremer, Lothar; Willbold, Dieter; Altmuller, Janine; Marbach, Felix; Hasenfuss, Gerd; Zimmermann, Wolfram-Hubertus; Ahmadian, Mohammad Reza; Wollnik, Bernd; Cyganek, Lukas Share Save Share Save Mutations in TOP3A Cause a Bloom Syndrome-like Disorder ( vol 103 , pg 221 , 2018)Martin, Carol-Anne; Sarlos, Kata; Logan, Clare, V; Thakur, Roshan Singh; Parry, David A.; Bizard, Anna H.; Leitch, Andrea; Cleal, Louise; Ali, Nadia Shaukat; Al-Owain, Mohammed A.; Allen, William; Altmueller, Janine; Aza-Carmona, Miriam; Barakat, Bushra A. Y.; Barraza-Garcia, Jimena; Begtrup, Amber; Bogliolo, Massimo; Cho, Megan T.; Cruz-Rojo, Jaime; Dhahrabi, Hassan Ali Mundi; Elcioglu, Nursel H.; Gorman, Grainne S.; Jobling, Rebekah; Kesterton, Ian; Kishita, Yoshihito; Kohda, Masakazu; Stabej, Polona Le Quesne; Malallah, Asam Jassim; Nurnberg, Peter; Ohtake, Akira; Okazaki, Yasushi; Pujol, Roser; Ramirez, Maria Jose; Revah-Politi, Anya; Shimura, Masaru; Stevens, Paul; Taylor, Robert W.; Turner, Lesley; Williams, Hywel; Wilson, Carolyn; Yigit, Goekhan; Zahavich, Laura; Alkuraya, Fowzan S.; Surralles, Jordi; Iglesias, Alejandro; Murayama, Kei; Wollnik, Bernd; Dattani, Mehul; Heath, Karen E.; Hickson, Ian D.; Jackson, Andrew P. Share Save Preclinical evaluation of CRISPR-based therapies for Noonan syndrome caused by deep-intronic LZTR1 variantsKnauer, Carolin; Haltern, Henrike; Schoger, Eric; Kuegler, Sebastian; Roos, Lennart; Zelarayan, Laura C.; Hasenfuss, Gerd; Zimmermann, Wolfram-Hubertus; Wollnik, Bernd; Cyganek, Lukas Share Save An NFATc1/SMAD3/cJUN Complex Restricted to SMAD4-Deficient Pancreatic Cancer Guides Rational TherapiesHasselluhn, Marie C.; Schloesser, Denise; Versemann, Lennart; Schmidt, Geske E.; Ulisse, Maria; Oschwald, Joana; Zhang, Zhe; Hamdan, Feda; Xiao, Harry; Kopp, Waltraut; Spitalieri, Jessica; Kellner, Christin; Schneider, Carolin; Reutlinger, Kristina; Nagarajan, Sankari; Steuber, Benjamin; Sastra, Stephen A.; Palermo, Carmine F.; Appelhans, Jennifer; Bohnenberger, Hanibal; Todorovic, Jovan; Kostyuchek, Irina; Stroebel, Philipp; Bockelmann, Aiko; Koenig, Alexander; Ammer-Herrmenau, Christoph; Schmidleitner, Laura; Kaulfuss, Silke; Wollnik, Bernd; Hahn, Stephan A.; Neesse, Albrecht; Singh, Shiv K.; Bastians, Holger; Reichert, Maximilian; Sax, Ulrich; Olive, Kenneth P.; Johnsen, Steven A.; Schneider, Guenter; Ellenrieder, Volker; Hessmann, Elisabeth Share Save Expansion of the complex genotypic and phenotypic spectrum of FGFR2-associated neurocutaneous syndromesSchmidt, Julia; Kaulfuss, Silke; Ott, Hagen; Gaubert, Marianne; Reintjes, Nadine; Bremmer, Felix; Dreha-Kulaczewski, Steffi; Stroebel, Philipp; Yigit, Goekhan; Wollnik, Bernd Share Save Spliceosome malfunction causes neurodevelopmental disorders with overlapping featuresLi, Dong; Wang, Qin; Bayat, Allan; Battig, Mark R.; Zhou, Yijing; Bosch, Danielle G. M.; van Haaften, Gijs; Granger, Leslie; Petersen, Andrea K.; Perez-Jurado, Luis A.; Aznar-Lain, Gemma; Aneja, Anushree; Hancarova, Miroslava; Bendova, Sarka; Schwarz, Martin; Pourova, Radka Kremlikova; Sedlacek, Zdenek; Keena, Beth A.; March, Michael E.; Hou, Cuiping; O'Connor, Nora; Bhoj, Elizabeth J.; Harr, Margaret H.; Lemire, Gabrielle; Boycott, Kym M.; Towne, Meghan; Li, Megan; Tarnopolsky, Mark; Brady, Lauren; Parker, Michael J.; Faghfoury, Hanna; Parsley, Lea Kristin; Agolini, Emanuele; Dentici, Maria Lisa; Novelli, Antonio; Wright, Meredith; Palmquist, Rachel; Lai, Khanh; Scala, Marcello; Striano, Pasquale; Iacomino, Michele; Zara, Federico; Cooper, Annina; Maarup, Timothy J.; Byler, Melissa; Lebel, Robert Roger; Balci, Tugce B.; Louie, Raymond; Lyons, Michael; Douglas, Jessica; Nowak, Catherine; Afenjar, Alexandra; Hoyer, Juliane; Keren, Boris; Maas, Saskia M.; Motazacker, Mahdi M.; Martinez-Agosto, Julian A.; Rabani, Ahna M.; McCormick, Elizabeth M.; Falk, Marni J.; Ruggiero, Sarah M.; Helbig, Ingo; Moller, Rikke S.; Tessarollo, Lino; Ardori, Francesco Tomassoni; Palko, Mary Ellen; Hsieh, Tzung-Chien; Krawitz, Peter M.; Ganapathi, Mythily; Gelb, Bruce D.; Jobanputra, Vaidehi; Wilson, Ashley; Greally, John; Jacquemont, Sebastien; Jizi, Khadije; Bruel, Ange-Line; Quelin, Chloe; Misra, Vinod K.; Chick, Erika; Romano, Corrado; Greco, Donatella; Arena, Alessia; Morleo, Manuela; Nigro, Vincenzo; Seyama, Rie; Uchiyama, Yuri; Matsumoto, Naomichi; Taira, Ryoji; Tashiro, Katsuya; Sakai, Yasunari; Yigit, Gokhan; Wollnik, Bernd; Wagner, Michael; Kutsche, Barbara; Hurst, Anna C. E.; Thompson, Michelle L.; Schmidt, Ryan; Randolph, Linda; Spillmann, Rebecca C.; Shashi, Vandana; Higginbotham, Edward J.; Cordeiro, Dawn; Carnevale, Amanda; Costain, Gregory; Khan, Tayyaba; Funalot, Benoit; Mau-Them, Frederic Tran; Moya, Luis Fernandez Garcia; Garcia-Minaur, Sixto; Osmond, Matthew; Chad, Lauren; Quercia, Nada; Carrasco, Diana; Li, Chumei; Sanchez-Valle, Amarilis; Kelley, Meghan; Nizon, Mathilde; Jensson, Brynjar O.; Sulem, Patrick; Stefansson, Kari; Gorokhova, Svetlana; Busa, Tiffany; Rio, Marlene; Habdallah, Hamza Hadj; Lesieur-Sebellin, Marion; Amiel, Jeanne; Pingault, Veronique; Mercier, Sandra; Vincent, Marie; Philippe, Christophe; Fatus-Fauconnier, Clemence; Friend, Kathryn; Halligan, Rebecca K.; Biswas, Sunita; Rosser, Jane; Shoubridge, Cheryl; Corbett, Mark; Barnett, Christopher; Gecz, Jozef; Leppig, Kathleen; Slavotinek, Anne; Marcelis, Carlo; Pfundt, Rolph; de Vries, Bert B. A.; van Slegtenhorst, Marjon A.; Brooks, Alice S.; Cogne, Benjamin; Rambaud, Thomas; Tumer, Zeynep; Zackai, Elaine H.; Akizu, Naiara; Song, Yuanquan; Hakonarson, Hakon Share Save Null and missense mutations of ERI1 cause a recessive phenotypic dichotomy in humansGuo, Long; Salian, Smrithi; Xue, Jing-yi; Rath, Nicola; Rousseau, Justine; Kim, Hyunyun; Ehresmann, Sophie; Moosa, Shahida; Nakagawa, Norio; Kuroda, Hiroshi; Clayton-Smith, Jill; Wang, Juan; Wang, Zheng; Banka, Siddharth; Jackson, Adam; Zhang, Yan-min; Wei, Zhen-jie; Huening, Irina; Brunet, Theresa; Ohashi, Hirofumi; Thomas, Molly F.; Bupp, Caleb; Miyake, Noriko; Matsumoto, Naomichi; Mendoza-Londono, Roberto; Costain, Gregory; Hahn, Gabriele; Donato, Nataliya Di; Yigit, Goekhan; Yamada, Takahiro; Nishimura, Gen; Ansel, K. Mark; Wollnik, Bernd; de Angelis, Martin Hrabe; Megarbane, Andre; Rosenfeld, Jill A.; Heissmeyer, Vigo; Ikegawa, Shiro; Campeau, Philippe M. Share Save The genetic spectrum of congenital ocular motor apraxia type Cogan: an observational study, continuedSchroeder, Simone; Yigit, Goekhan; Li, Yun; Altmueller, Janine; Buettel, Hans-Martin; Fiedler, Barbara; Kretzschmar, Christoph; Nuernberg, Peter; Seeger, Juergen; Serpieri, Valentina; Valente, Enza Maria; Wollnik, Bernd; Boltshauser, Eugen; Brockmann, Knut Share Save Share Save Homozygous loss-of-function variants in FILIP1 cause autosomal recessive arthrogryposis multiplex congenita with microcephalySchnabel, Franziska; Schuler, Elisabeth; Al-Maawali, Almundher; Chaurasia, Ankur; Syrbe, Steffen; Al-Kindi, Adila; Bhavani, Gandham SriLakshmi; Shukla, Anju; Altmueller, Janine; Nuernberg, Peter; Banka, Siddharth; Girisha, Katta M.; Li, Yun; Wollnik, Bernd; Yigit, Goekhan Share Save WARS1 and SARS1: Two tRNA synthetases implicated in autosomal recessive microcephalyBoegershausen, Nina; Krawczyk, Hannah E.; Jamra, Rami A.; Lin, Sheng-Jia; Yigit, Goekhan; Huening, Irina; Polo, Anna M.; Vona, Barbara; Huang, Kevin; Schmidt, Julia; Altmueller, Janine; Luppe, Johannes; Platzer, Konrad; Doergeloh, Beate B.; Busche, Andreas; Biskup, Saskia; Mendes, Marisa, I; Smith, Desiree E. C.; Salomons, Gajja S.; Zibat, Arne; Bueltmann, Eva; Nuernberg, Peter; Spielmann, Malte; Lemke, Johannes R.; Li, Yun; Zenker, Martin; Varshney, Gaurav K.; Hillen, Hauke S.; Kratz, Christian P.; Wollnik, Bernd Share Save 
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