Not logged inBiallelic loss-of-function variants in ZNF142 are associated with a robust DNA methylation signature affecting a limited number of genomic loci
Hildonen, Mathis; Ciolfi, Andrea; Ferilli, Marco; Cappelletti, Camilla; Al Alam, Chadi; Amor, David J.; Barakat, Tahsin Stefan; Benoit, Valerie; Birk, Ohad Shmuel; Callewaert, Bert; Cazurro-Gutierrez, Ana; De Wachter, Matthias; Doco-Fenzy, Martine; Gomez-Puertas, Paulino; Hammer, Trine Bjorg; Jamra, Rami Abou; Kaiyrzhanov, Rauan; Kameyama, Shinichi; Keren, Boris; Kresge, Christina; Krey, Ilona; Lederer, Damien; Marcos-Alcalde, Inigo; Maroofian, Reza; Matsumoto, Naomichi; Mizuguchi, Takeshi; Moey, Lip-Hen; Morgan, Angela; Munell, Francina; Platzer, Konrad; Pletcher, Beth A.; Ros-Pardo, David; Rumping, Lynne; Szakszon, Katalin; Van Schil, Kristof; Verdura, Edgard; Vogt, Julie; Wassmer, Evangeline; Zamani, Mina; Tumer, Zeynep; Tartaglia, Marco .png)
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SaveDNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disordersLessel, Ivana; Baresic, Anja; Chinn, Ivan K.; May, Jonathan; Goenka, Anu; Chandler, Kate E.; Posey, Jennifer E.; Afenjar, Alexandra; Averdunk, Luisa; Bedeschi, Maria Francesca; Besnard, Thomas; Brager, Rae; Brick, Lauren; Brugger, Melanie; Brunet, Theresa; Byrne, Susan; de la Calle-Martin, Oscar; Capra, Valeria; Cardenas, Paul; Chappe, Celine; Chong, Hey J.; Cogne, Benjamin; Conboy, Erin; Cope, Heidi; Courtin, Thomas; Deb, Wallid; Dilena, Robertino; Dubourg, Christele; Elgizouli, Magdeldin; Fernandes, Erica; Fitzgerald, Kristi K.; Gangi, Silvana; George-Abraham, Jaya K.; Gucsavas-Calikoglu, Muge; Haack, Tobias B.; Hadonou, Medard; Hanker, Britta; Huning, Irina; Iascone, Maria; Isidor, Bertrand; Jarvela, Irma; Jin, Jay J.; Jorge, Alexander A. L.; Josifova, Dragana; Kalinauskiene, Ruta; Kamsteeg, Erik-Jan; Keren, Boris; Kessler, Elena; Koelbel, Heike; Kozenko, Mariya; Kubisch, Christian; Kuechler, Alma; Leal, Suzanne M.; Leppala, Juha; Luu, Sharon M.; Lyon, Gholson J.; Madan-Khetarpal, Suneeta; Mancardi, Margherita; Marchi, Elaine; Mehta, Lakshmi; Menendez, Beatriz; Morel, Chantal F.; Harasink, Sue Moyer; Nevay, Dayna-Lynn; Nigro, Vincenzo; Odent, Sylvie; Oegema, Renske; Pappas, John; Pastore, Matthew T.; Perilla-Young, Yezmin; Platzer, Konrad; Powell-Hamilton, Nina; Rabin, Rachel; Rekab, Aisha; Rezende, Raissa C.; Robert, Leema; Romano, Ferruccio; Scala, Marcello; Poths, Karin; Schrauwen, Isabelle; Sebastian, Jessica; Short, John; Sidlow, Richard; Sullivan, Jennifer; Szakszon, Katalin; Tan, Queenie K. G.; Wagner, Matias; Wieczorek, Dagmar; Yuan, Bo; Maeding, Nicole; Strunk, Dirk; Begtrup, Amber; Banka, Siddharth; Lupski, James R.; Tolosa, Eva; Lessel, Davor Share Save DNA methylation episignature and comparative epigenomic profiling for Pitt-Hopkins syndrome caused by TCF4 variantsvan der Laan, Liselot; Lauffer, Peter; Rooney, Kathleen; Silva, Ananilia; Haghshenas, Sadegheh; Relator, Raissa; Levy, Michael A.; Trajkova, Slavica; Huisman, Sylvia A.; Bijlsma, Emilia K.; Kleefstra, Tjitske; van Bon, Bregje W.; Baysal, Ozlem; Zweier, Christiane; Palomares-Bralo, Maria; Fischer, Jan; Szakszon, Katalin; Faivre, Laurence; Piton, Amelie; Mesman, Simone; Hochstenbach, Ron; Elting, Mariet W.; van Hagen, Johanna M.; Plomp, Astrid S.; Mannens, Marcel M. A. M.; Alders, Marielle; van Haelst, Mieke M.; Ferrero, Giovanni B.; Brusco, Alfredo; Henneman, Peter; Sweetser, David A.; Sadikovic, Bekim; Vitobello, Antonio; Menke, Leonie A. Share Save Genetic counselling legislation and practice in cancer in EU Member StatesMcCrary, J. Matt; Van Valckenborgh, Els; Poirel, Helene A.; de Putter, Robin; van Rooij, Jeroen; Horgan, Denis; Dierks, Marie-Luise; Antonova, Olga; Brunet, Joan; Chirita-Emandi, Adela; Colas, Chrystelle; Dalmas, Miriam; Ehrencrona, Hans; Grima, Claire; Janavicius, Ramunas; Klink, Barbara; Koczok, Katalin; Krajc, Mateja; Lace, Baiba; Leitsalu, Liis; Mistrik, Martin; Paneque, Milena; Primorac, Dragan; Roetzer, Katharina M.; Ronez, Joelle; Slamova, Lucie; Spanou, Elena; Stamatopoulos, Kostas; Stoklosa, Tomasz; Strang-Karlsson, Sonja; Szakszon, Katalin; Szczaluba, Krzysztof; Turner, Jacqueline; van Dooren, Marieke F.; van Zelst-Stams, Wendy A. G.; Vassallo, Loredana-Maria; Wadt, Karin A. W.; Zigman, Tamara; Ripperger, Tim; Genuardi, Maurizio; Van den Bulcke, Marc; Bergmann, Anke Katharina Share Save Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statementLacombe, Didier; Bloch-Zupan, Agnes; Bredrup, Cecilie; Cooper, Edward B.; Houge, Sofia Douzgou; Garcia-Minaur, Sixto; Kayserili, Hulya; Larizza, Lidia; Gonzalez, Vanesa Lopez; Menke, Leonie A.; Milani, Donatella; Saettini, Francesco; Stevens, Cathy A.; Tooke, Lloyd; van der Zee, Jill A.; Van Genderen, Maria M.; Van-Gils, Julien; Waite, Jane; Adrien, Jean-Louis; Bartsch, Oliver; Bitoun, Pierre; Bouts, Antonia H. M.; Cueto-Gonzalez, Anna M.; Dominguez-Garrido, Elena; Duijkers, Floor A.; Fergelot, Patricia; Halstead, Elisabeth; Huisman, Sylvia A.; Meossi, Camilla; Mullins, Jo; Nikkel, Sarah M.; Oliver, Chris; Prada, Elisabetta; Rei, Alessandra; Riddle, Ilka; Rodriguez-Fonseca, Cristina; Pena, Rebecca Rodriguez; Russell, Janet; Saba, Alicia; Santos-Simarro, Fernando; Simpson, Brittany N.; Smith, David F.; Stevens, Markus F.; Szakszon, Katalin; Taupiac, Emmanuelle; Totaro, Nadia; Palafoll, Irene Valenzuena; van der Kaay, Danielle C. M.; Van Wijk, Michiel P.; Vyshka, Klea; Wiley, Susan; Hennekam, Raoul C. Share Save Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients with ZNF148 mutationsSzakszon, Katalin; Lourenco, Charles Marques; Callewaert, Bert Louis; Genevieve, David; Rouxel, Flavien; Morin, Denis; Denomme-Pichon, Anne-Sophie; Vitobello, Antonio; Patterson, Wesley; Louie, Raymond; Vairo, Filippo; Klee, Eric; Kaiwar, Charu; Gavrilova, Ralitza H.; Agre, Katherine E.; Jacquemont, Sebastien; Khadije, Jizi; Giltay, Jacques; van Gassen, Koen; Mero, Gabriella; Gerkes, Erica; Van Bon, Bregje W.; Rinne, Tuula; Pfundt, Rolph; Brunner, Han G.; Caluseriu, Oana; Grasshoff, Ute; Kehrer, Martin; Haack, Tobias B.; Khelifa, Melik Malek; Bergmann, Anke Katharina; Cueto-Gonzalez, Anna Maria; Martorell, Ariadna Campos; Ramachandrappa, Shwetha; Sawyer, Lindsey B.; Fasel, Pascale; Braun, Dominique; Isis, Atallah; Superti-Furga, Andrea; McNiven, Vanda; Chitayat, David; Ahmed, Syed Anas; Brennenstuhl, Heiko; Schwaibolf, Eva M. C.; Battisti, Gladys; Parmentier, Benoit; Stevens, Servi J. C. Share Save Correlation of GAA Genotype and Acid-α-Glucosidase Enzyme Activity in Hungarian Patients with Pompe DiseaseGal, Aniko; Grosz, Zoltan; Borsos, Beata; Szatmari, Ildiko; Sebok, Agnes; Javor, Laszlo; Harmath, Veronika; Szakszon, Katalin; Dezsi, Livia; Balku, Eniko; Jobbagy, Zita; Herczegfalvi, Agnes; Almassy, Zsuzsanna; Kerenyi, Levente; Molnar, Maria Judit Share Save FBN1 gene mutations in 26 Hungarian patients with suspected Marfan syndrome or related fibrillinopathiesMadar, Laszlo; Szakszon, Katalin; Pfliegler, Gyorgy; Szabo, Gabriella P.; Brugos, Boglarka; Ronen, Natali; Papp, Judit; Zahuczky, Katalin; Szakos, Erzsebet; Fekete, Gyorgy; Olah, Eva; Koczok, Katalin; Balogh, Istvan Share Save Share Save Analyses of LMNA-negative juvenile progeroid cases confirms biallelic POLR3A mutations in Wiedemann-Rautenstrauch-like syndrome and expands the phenotypic spectrum of PYCR1 mutationsLessel, Davor; Ozel, Ayse Bilge; Campbell, Susan E.; Saadi, Abdelkrim; Arlt, Martin F.; McSweeney, Keisha Melodi; Plaiasu, Vasilica; Szakszon, Katalin; Szollos, Anna; Rusu, Cristina; Rojas, Armando J.; Lopez-Valdez, Jaime; Thiele, Holger; Nuernberg, Peter; Nickerson, Deborah A.; Bamshad, Michael J.; Li, Jun Z.; Kubisch, Christian; Glover, Thomas W.; Gordon, Leslie B. Share Save KAT6B Is a Tumor Suppressor Histone H3 Lysine 23 Acetyltransferase Undergoing Genomic Loss in Small Cell Lung CancerSimo-Riudalbas, Laia; Perez-Salvia, Montserrat; Setien, Fernando; Villanueva, Alberto; Moutinho, Catia; Martinez-Cardus, Anna; Moran, Sebastian; Berdasco, Maria; Gomez, Antonio; Vidal, Enrique; Soler, Marta; Heyn, Holger; Vaquero, Alejandro; de la Torre, Carolina; Barcelo-Batllori, Silvia; Vidal, August; Roz, Luca; Pastorino, Ugo; Szakszon, Katalin; Borck, Guntram; Moura, Conceicao S.; Carneiro, Fatima; Zondervan, Ilse; Savola, Suvi; Iwakawa, Reika; Kohno, Takashi; Yokota, Jun; Esteller, Manel Share Save POLD1 Germline Mutations in Patients Initially Diagnosed with Werner SyndromeLessel, Davor; Hisama, Fuki M.; Szakszon, Katalin; Saha, Bidisha; Sanjuanelo, Alexander Barrios; Salbert, Bonnie A.; Steele, Pamela D.; Baldwin, Jennifer; Brown, W. Ted; Piussan, Charles; Plauchu, Henri; Szilvassy, Judit; Horkay, Edit; Hoegel, Josef; Martin, George M.; Herr, Alan J.; Oshima, Junko; Kubisch, Christian Share Save Thirteen New Patients with Guanidinoacetate Methyltransferase Deficiency and Functional Characterization of Nineteen Novel Missense Variants in the GAMT GeneMercimek-Mahmutoglu, Saadet; Ndika, Joseph; Kanhai, Warsha; de Villemeur, Thierry Billette; Cheillan, David; Christensen, Ernst; Dorison, Nathalie; Hannig, Vickie; Hendriks, Yvonne; Hofstede, Floris C.; Lion-Francois, Laurence; Lund, Allan M.; Mundy, Helen; Pitelet, Gaele; Raspall-Chaure, Miquel; Scott-Schwoerer, Jessica A.; Szakszon, Katalin; Valayannopoulos, Vassili; Williams, Monique; Salomons, Gajja S. Share Save 
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