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Delineation of the adult phenotype of Coffin-Siris syndrome in 35 individuals Schmetz, Ariane; Luedecke, Hermann-Josef; Surowy, Harald; Sivalingam, Sugirtahn; Bruel, Ange-Line; Caumes, Roseline; Charles, Perrine; Chatron, Nicolas; Chrzanowska, Krystyna; Codina-Sola, Marta; Colson, Cindy; Cusco, Ivon; Denomme-Pichon, Anne-Sophie; Edery, Patrick; Faivre, Laurence; Green, Andrew; Heide, Solveig; Hsieh, Tzung-Chien; Hustinx, Alexander; Kleinendorst, Lotte; Knopp, Cordula; Kraft, Florian; Krawitz, Peter M.; Lasa-Aranzasti, Amaia; Lesca, Gaetan; Lopez-Gonzalez, Vanesa; Maraval, Julien; Mignot, Cyril; Neuhann, Teresa; Netzer, Christian; Oehl-Jaschkowitz, Barbara; Petit, Florence; Philippe, Christophe; Posmyk, Renata; Putoux, Audrey; Reis, Andre; Sanchez-Soler, Maria Jose; Suh, Julia; Tkemaladze, Tinatin; Tran Mau Them, Frederic; Travessa, Andre; Trujillano, Laura; Valenzuela, Irene; van Haelst, Mieke M.; Vasileiou, Georgia; Vincent-Delorme, Catherine; Walther, Mona; Verde, Pablo; Bramswig, Nuria C.; Wieczorek, Dagmar Share Save
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Impaired p53-Mediated DNA Damage Response Contributes to Microcephaly in Nijmegen Breakage Syndrome Patient-Derived Cerebral Organoids Martins, Soraia; Erichsen, Lars; Datsi, Angeliki; Wruck, Wasco; Goering, Wolfgang; Chatzantonaki, Eleftheria; de Amorim, Vanessa Cristina Meira; Rossi, Andrea; Chrzanowska, Krystyna H.; Adjaye, James Share Save
Telomere attrition and dysfunction: a potential trigger of the progeroid phenotype in nijmegen breakage syndrome Habib, Raneem; Kim, Ryong; Neitzel, Heidemarie; Demuth, Ilja; Chrzanowska, Krystyna; Seemanova, Eva; Faber, Renaldo; Digweed, Martin; Voss, Reinhard; Jaeger, Kathrin; Sperling, Karl; Walter, Michael Share Save
Breakpoint Mapping of Symptomatic Balanced Translocations Links the EPHA6, KLF13 and UBR3 Genes to Novel Disease Phenotype Pienkowski, Victor Murcia; Kucharczyk, Marzena; Rydzanicz, Malgorzata; Poszewiecka, Barbara; Pachota, Katarzyna; Mlynek, Marlena; Stawinski, Piotr; Pollak, Agnieszka; Kosinska, Joanna; Wojciechowska, Katarzyna; Lejman, Monika; Cieslikowska, Agata; Wicher, Dorota; Stembalska, Agnieszka; Matuszewska, Karolina; Materna-Kiryluk, Anna; Gambin, Anna; Chrzanowska, Krystyna; Krajewska-Walasek, Malgorzata; Ploski, Rafal Share Save
The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome (vol 21, pg 1295, 2019) van der Sluijs, Pleuntje J.; Jansen, Sandra; Vergano, Samantha A.; Adachi-Fukuda, Miho; Alanay, Yasemin; AlKindy, Adila; Baban, Anwar; Bayat, Allan; Beck-Woedl, Stefanie; Berry, Katherine; Bijlsma, Emilia K.; Bok, Levinus A.; Brouwer, Alwin F. J.; van der Burgt, Ineke; Campeau, Philippe M.; Canham, Natalie; Chrzanowska, Krystyna; Chu, Yoyo W. Y.; Chung, Brain H. Y.; Dahan, Karin; De Rademaeker, Marjan; Destree, Anne; Dudding-Byth, Tracy; Earl, Rachel; Elcioglu, Nursel; Elias, Ellen R.; Fagerberg, Christina; Gardham, Alice; Gener, Blanca; Gerkes, Erica H.; Grasshoff, Ute; van Haeringen, Arie; Heitink, Karin R.; Herkert, Johanna C.; den Hollander, Nicolette S.; Horn, Denise; Hunt, David; Kant, Sarina G.; Kato, Mitsuhiro; Kayserili, Hulya; Kersseboom, Rogier; Kilic, Esra; Krajewska-Walasek, Malgorzata; Lammers, Kylin; Laulund, Lone W.; Lederer, Damien; Lees, Melissa; Lopez-Gonzalez, Vanesa; Maas, Saskia; Mancini, Grazia M. S.; Marcelis, Carlo; Martinez, Francisco; Maystadt, Isabelle; McGuire, Marianne; Mckee, Shane; Mehta, Sarju; Metcalfe, Kay; Milunsky, Jeff; Mizuno, Seiji; Moeschler, John B.; Netzer, Christian; Ockeloen, Charlotte W.; Oehl-Jaschkowitz, Barbara; Okamoto, Nobuhiko; Olminkhof, Sharon N. M.; Orellana, Carmen; Pasquier, Laurent; Pottinger, Caroline; Riehmer, Vera; Robertson, Stephen P.; Roifman, Maian; Rooryck, Caroline; Ropers, Fabienne G.; Rosello, Monica; Ruivenkamp, Claudia A. L.; Sagiroglu, Mahmut S.; Sallevelt, Suzanne C. E. H.; Calvo, Amparo Sanchis; Simsek-Kiper, Pelin O.; Soares, Gabriela; Solaeche, Lucia; Sonmez, Fatma Mujgan; Splitt, Miranda; Steenbeek, Duco; Stegmann, Alexander P. A.; Stumpel, Constance T. R. M.; Tanabe, Saori; Uctepe, Eyyup; Utine, G. Eda; Veenstra-Knol, Hermine E.; Venkateswaran, Sunita; Vilain, Catheline; Vincent-Delorme, Catherine; Vulto-van Silfhout, Anneke T.; Wheeler, Patricia; Wilson, Golder N.; Wilson, Louise C.; Wollnik, Bernd; Kosho, Tomoki; Wieczorek, Dagmar; Eichler, Evan; Pfundt, Rolph; de Vries, Bert B. A.; Clayton-Smith, Jill; Santen, Gijs W. E. Share Save
The frequency of mitochondrial polymerase gamma related disorders in a large Polish population cohort Piekutowska-Abramczuk, Dorota; Kaliszewska, Magdalena; Sulek, Anna; Jurkowska, Natalia; Oltarzewski, Mariusz; Jablonska, Ewa; Trubicka, Joanna; Glowacka, Aleksandra; Ciara, Elzbieta; Kowalski, Pawel; Langiewicz-Wojciechowska, Karolina; Tesarova, Marketa; Zeman, Jiri; Kierdaszuk, Biruta; Kuczynski, Dariusz; Chmielewski, Dariusz; Szymanska, Edyta; Bakula, Agnieszka; Lusakowska, Anna; Lipowska, Marta; Brodacki, Bogdan; Pera, Joanna; Dorobek, Malgorzata; Rydzanicz, Malgorzata; Ploski, Rafal; Chrzanowska, Krystyna Halina; Bartnik, Ewa; Placha, Grzegorz; Kaminska, Anna; Kostera-Pruszczyk, Anna; Krajewska-Walasek, Malgorzata; Tonska, Katarzyna; Pronicka, Ewa Share Save
The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome van der Sluijs, Pleuntje J.; Jansen, Sandra; Vergano, Samantha A.; Adachi-Fukuda, Miho; Alanay, Yasemin; AlKindy, Adila; Baban, Anwar; Bayat, Allan; Beck-Woedl, Stefanie; Berry, Katherine; Bijlsma, Emilia K.; Bok, Levinus A.; Brouwer, Alwin F. J.; van der Burgt, Ineke; Campeau, Philippe M.; Canham, Natalie; Chrzanowska, Krystyna; Chu, Yoyo W. Y.; Chung, Brain H. Y.; Dahan, Karin; De Rademaeker, Marjan; Destree, Anne; Dudding-Byth, Tracy; Earl, Rachel; Elcioglu, Nursel; Elias, Ellen R.; Fagerberg, Christina; Gardham, Alice; Gener, Blanca; Gerkes, Erica H.; Grasshoff, Ute; van Haeringen, Arie; Heitink, Karin R.; Herkert, Johanna C.; den Hollander, Nicolette S.; Horn, Denise; Hunt, David; Kant, Sarina G.; Kato, Mitsuhiro; Kayserili, Hulya; Kersseboom, Rogier; Kilic, Esra; Krajewska-Walasek, Malgorzata; Lammers, Kylin; Laulund, Lone W.; Lederer, Damien; Lees, Melissa; Lopez-Gonzalez, Vanesa; Maas, Saskia; Mancini, Grazia M. S.; Marcelis, Carlo; Martinez, Francisco; Maystadt, Isabelle; McGuire, Marianne; McKee, Shane; Mehta, Sarju; Metcalfe, Kay; Milunsky, Jeff; Mizuno, Seiji; Moeschler, John B.; Netzer, Christian; Ockeloen, Charlotte W.; Oehl-Jaschkowitz, Barbara; Okamoto, Nobuhiko; Olminkhof, Sharon N. M.; Orellana, Carmen; Pasquier, Laurent; Pottinger, Caroline; Riehmer, Vera; Robertson, Stephen P.; Roifman, Maian; Rooryck, Caroline; Ropers, Fabienne G.; Rosello, Monica; Ruivenkamp, Claudia A. L.; Sagiroglu, Mahmut S.; Sallevelt, Suzanne C. E. H.; Sanchis Calvo, Amparo; Simsek-Kiper, Pelin O.; Soares, Gabriela; Solaeche, Lucia; Sonmez, Fatma Mujgan; Splitt, Miranda; Steenbeek, Duco; Stegmann, Alexander P. A.; Stumpel, Constance T. R. M.; Tanabe, Saori; Uctepe, Eyyup; Utine, G. Eda; Veenstra-Knol, Hermine E.; Venkateswaran, Sunita; Vilain, Catheline; Vincent-Delorme, Catherine; Vulto-van Silfhout, Anneke T.; Wheeler, Patricia; Wilson, Golder N.; Wilson, Louise C.; Wollnik, Bernd; Kosho, Tomoki; Wieczorek, Dagmar; Eichler, Evan; Pfundt, Rolph; de Vries, Bert B. A.; Clayton-Smith, Jill; Santen, Gijs W. E. Share Save
DNA damage and transcriptional regulation in iPSC-derived neurons from Ataxia Telangiectasia patients Corti, Alessandro; Sota, Raina; Dugo, Matteo; Calogero, Raffaele A.; Terragni, Benedetta; Mantegazza, Massimo; Franceschetti, Silvana; Restelli, Michela; Gasparini, Patrizia; Lecis, Daniele; Chrzanowska, Krystyna H.; Delia, Domenico Share Save
Small supernumerary marker chromosomes: A legacy of trisomy rescue? Kurtas, Nehir Edibe; Xumerle, Luciano; Leonardelli, Lorena; Delledonne, Massimo; Brusco, Alfredo; Chrzanowska, Krystyna; Schinzel, Albert; Larizza, Daniela; Guerneri, Silvana; Natacci, Federica; Bonaglia, Maria Clara; Reho, Paolo; Manolakos, Emmanouil; Mattina, Teresa; Soli, Fiorenza; Provenzano, Aldesia; Al-Rikabi, Ahmed H.; Errichiello, Edoardo; Nazaryan-Petersen, Lusine; Giglio, Sabrina; Tommerup, Niels; Liehr, Thomas; Zuffardi, Orsetta Share Save
Mapping of breakpoints in balanced chromosomal translocations by shallow whole-genome sequencing points to EFNA5, BAHD1 and PPP2R5E as novel candidates for genes causing human Mendelian disorders Pienkowski, Victor Murcia; Kucharczyk, Marzena; Mlynek, Marlena; Szczaluba, Krzysztof; Rydzanicz, Malgorzata; Poszewiecka, Barbara; Skorka, Agata; Sykulski, Maciej; Biernacka, Anna; Koppolu, Agnieszka Anna; Posmyk, Renata; Walczak, Anna; Kosinska, Joanna; Krajewski, Pawel; Castaneda, Jennifer; Obersztyn, Ewa; Jurkiewicz, Elzbieta; Smigiel, Robert; Gambin, Anna; Chrzanowska, Krystyna; Krajewska-Walasek, Malgorzata; Ploski, Rafal Share Save
Circulating T Cells of Patients with Nijmegen Breakage Syndrome Show Signs of Senescence (vol 37, pg 133, 2017) Meijers, Ruud W. J.; Dzierzanowska-Fangrat, Katarzyna; Zborowska, Magdalena; Solarska, Iwona; Tielemans, Dennis; van Turnhout, Bob A. C.; Driessen, Gertjan; van der Burg, Mirjam; van Dongen, Jacques J. M.; Chrzanowska, Krystyna H.; Langerak, Anton W. Share Save
Anemia in Patients With Resistance to Thyroid Hormone α: A Role for Thyroid Hormone Receptor a in Human Erythropoiesis van Gucht, Anja L. M.; Meima, Marcel E.; Moran, Carla; Agostini, Maura; Tylki-Szymanska, Anna; Krajewska-Walasek, Malgorzata; Chrzanowska, Krystyna; Efthymiadou, Alexandra; Chrysis, Dionisios; Demir, Korcan; Visser, W. Edward; Visser, Theo J.; Chatterjee, Krishna; van Dijk, Thamar B.; Peeters, Robin P. Share Save
Genomic profiling of acute lymphoblastic leukemia in ataxia telangiectasia patients reveals tight link between ATM mutations and chromothripsis Ratnaparkhe, Manasi; Hlevnjak, Mario; Kolb, Thorsten; Jauch, Anna; Maass, Kendra; Devens, Frauke; Rode, Agata; Hovestadt, Volker; Korshunov, Andrey; Pastorczak, Agata; Mlynarski, Wojciech; Sungalee, Stephanie; Korbel, Jan; Hoell, Jessica; Fischer, Ute; Milde, Till; Kramm, Christof; Nathrath, Michaela; Chrzanowska, Krystyna; Tausch, Eugen; Takagi, Masatoshi; Taga, Takashi; Constantini, Shlomi; Loeffen, Jan; Meijerink, Jules; Zielen, Stefan; Goehring, Gudrun; Schlegelberger, Brigitte; Maass, Eberhard; Siebert, Reiner; Kunz, Joachim; Kulozik, Andreas; Worst, Barbara; Jones, David; Pfister, Stefan; Zapatka, Marc; Lichter, Peter; Ernst, Aurelie Share Save
The germline variants in DNA repair genes in pediatric medulloblastoma: a challenge for current therapeutic strategies Trubicka, Joanna; Zemojtel, Tomasz; Hecht, Jochen; Falana, Katarzyna; Piekutowska-Abramczuk, Dorota; Ploski, Rafal; Perek-Polnik, Marta; Drogosiewicz, Monika; Grajkowska, Wieslawa; Ciara, Elzbieta; Moszczynska, Elzbieta; Dembowska-Baginska, Bozenna; Perek, Danuta; Chrzanowska, Krystyna H.; Krajewska-Walasek, Malgorzata; Lastowska, Maria Share Save
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