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Biallelic loss-of-function variants in ZNF142 are associated with a robust DNA methylation signature affecting a limited number of genomic loci ZNF142基因的双等位基因失活变异与一种强烈的DNA甲基化特征相关，该特征影响有限的基因组位点。 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 分享 收藏
Artificial intelligence-driven genotype-epigenotype-phenotype approaches to resolve challenges in syndrome diagnostics 人工智能驱动的基因型-表观基因型-表型方法以解决综合征诊断中的挑战 Mak, Christopher C. Y.; Klinkhammer, Hannah; Choufani, Sanaa; Reko, Nikola; Christman, Angela K.; Pisan, Elise; Chui, Martin M. C.; Lee, Mianne; Leduc, Fiona; Dempsey, Jennifer C.; Sanchez-Lara, Pedro A.; Bombei, Hannah M.; Bernat, John A.; Faivre, Laurence; Mau-Them, Frederic Tran; Palafoll, Irene Valenzuela; Canham, Natalie; Sarkar, Ajoy; Zarate, Yuri A.; Callewaert, Bert; Bukowska-Olech, Ewelina; Jamsheer, Aleksander; Zankl, Andreas; Willems, Marjolaine; Duncan, Laura; Isidor, Bertrand; Cogne, Benjamin; Boute, Odile; Vanlerberghe, Clemence; Goldenberg, Alice; Stolerman, Elliot; Low, Karen J.; Gilard, Vianney; Amiel, Jeanne; Lin, Angela E.; Gordon, Christopher T.; Doherty, Dan; Krawitz, Peter M.; Weksberg, Rosanna; Hsieh, Tzung-Chien; Chung, Brian H. Y. 分享 收藏
RNA-sequencing unveils FLT4 splice site variants in variable congenital heart disease (Jan, 10.1038/s41431-025-01788-y, 2025) RNA测序揭示了可变先天性心脏病中的FLT4剪接位点变异 (1月，10.1038/s41431-025-01788-y，2025) Verlee, Maxim; D'haenens, Erika; De Cock, Laurenz; Mosquera, Laura Muino; De Groote, Katya; Vandekerckhove, Kristof; Panzer, Joseph; Roets, Ellen; Menten, Bjoern; Symoens, Sofie; Coucke, Paul; Van Damme, Tim; Vergult, Sarah; Callewaert, Bert 分享 收藏
Retrospective analysis of virtual gene panel analysis for genodermatoses reveals a high diagnostic yield in clinical practice Beyens, Aude; Weytens, Jozefien; Pottie, Lore; De Meulemeester, Sofie; Aelbrecht, Karolien; De Feyter, Silke; De Schepper, Sofie; Van Holm, Eline; Symoens, Sofie; Callewaert, Bert 分享 收藏
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RNA-sequencing unveils FLT4 splice site variants in variable congenital heart disease Verlee, Maxim; D'haenens, Erika; De Cock, Laurenz; Mosquera, Laura Muino; De Groote, Katya; Vandekerckhove, Kristof; Panzer, Joseph; Roets, Ellen; Menten, Bjorn; Symoens, Sofie; Coucke, Paul; Vandamme, Tim; Vergult, Sarah; Callewaert, Bert 分享 收藏
Unexpected High Prevalence of Focal Facial Dermal Dysplasia (FFDD) Type IV Is Linked to a Founder Effect in the Belgian Population 意外的高发病率的面部局限性皮肤发育不良（FFDD）IV型与比利时人群中的奠基者效应相关。 Beyens, Aude; van de Voorde, Stefanie; Santano Ramos Da Silva, Marta Guerreiro; De Meulemeester, Sofie; Devriendt, Koen; Goeteyn, Marleen; Janssens, Sandra; Kooy, R. Frank; Rosseel, Toon; Symoens, Sofie; Hes, Frederik Jan; Keymolen, Kathelijn; Dimitrov, Boyan; Callewaert, Bert 分享 收藏
Heterozygous UBR5 variants result in a neurodevelopmental syndrome with developmental delay, autism, and intellectual disability 杂合UBR5变异导致神经发育综合征伴发育迟缓、自闭症和智力障碍 Sabeh, Pascale; Dumas, Samantha A.; Maios, Claudia; Daghar, Hiba; Korzeniowski, Marek; Rousseau, Justine; Lines, Matthew; Guerin, Andrea; Millichap, John J.; Landsverk, Megan; Grebe, Theresa; Lindstrom, Kristin; Strober, Jonathan; Mouhoub, Tarik Ait; Zweier, Christiane; Steinraths, Michelle; Hebebrand, Moritz; Callewaert, Bert; Abou Jamra, Rami; Kautza-Lucht, Monika; Wegler, Meret; Kruszka, Paul; Kumps, Candy; Banne, Ehud; Waberski, Marta Biderman; Dieux, Anne; Raible, Sarah; Krantz, Ian; Medne, Livija; Pechter, Kieran; Villard, Laurent; Guerrini, Renzo; Bianchini, Claudia; Barba, Carmen; Mei, Davide; Blanc, Xavier; Kallay, Christine; Ranza, Emmanuelle; Yang, Xiao-Ru; O'Heir, Emily; Donald, Kirsten A.; Murugasen, Serini; Bruwer, Zandre; Calikoglu, Muge; Mathews, Jennifer M.; Lesieur-Sebellin, Marion; Baujat, Genevieve; Derive, Nicolas; Pierson, Tyler Mark; Murrell, Jill R.; Shillington, Amelle; Ormieres, Clothilde; Rondeau, Sophie; Reis, Andre; Fernandez-Jaen, Alberto; Au, Ping Yee Billie; Sweetser, David A.; Briere, Lauren C.; Couque, Nathalie; Perrin, Laurence; Schymick, Jennifer; Gueguen, Paul; Lefebvre, Mathilde; Van Andel, Michael; Juusola, Jane; Antonarakis, Stylianos E.; Banne, Ethud; Parker, J. Alex; Burnett, Barrington G.; Campeau, Philippe M. 分享 收藏
Interpretation and classification of FBN1 variants associated with Marfan syndrome: consensus recommendations from the Clinical Genome Resource's FBN1 variant curation expert panel 与马凡氏综合征相关的FBN1变异的解释和分类: 来自临床基因组资源的FBN1变异管理专家小组的共识建议 Drackley, A.; Somerville, C.; Arnaud, P.; Baudhuin, L. M.; Hanna, N.; Kluge, M. L.; Kotzer, K.; Boileau, C.; Bronicki, L.; Callewaert, B.; Cecchi, A.; Dietz, H.; Guo, D.; Harris, S.; Jarinova, O.; Lindsay, M.; Little, L.; Loeys, B.; Maccarrick, G.; Meester, J.; Milewicz, D.; Morisaki, T.; Morisaki, H.; Murdock, D.; Renard, M.; Richer, J.; Robert, L.; Ouzounian, M.; Van Laer, L.; De Backer, J.; Muino-Mosquera, L. 分享 收藏
New insights into the structural role of EMILINs within the human skin microenvironment Schiavinato, Alvise; Marcous, Fady; Zuk, Alexandra V.; Keene, Douglas R.; Tufa, Sara F.; Mosquera, Laura M.; Zigrino, Paola; Mauch, Cornelia; Eckes, Beate; Francois, Katrien; De Backer, Julie; Hunzelmann, Nicolas; Moinzadeh, Pia; Krieg, Thomas; Callewaert, Bert; Sengle, Gerhard 分享 收藏
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De novo variants in SP9 cause a novel form of interneuronopathy characterized by intellectual disability, autism spectrum disorder, and epilepsy with variable expressivity Tessarech, Marine; Friocourt, Gaelle; Marguet, Florent; Lecointre, Maryline; Le Mao, Morgane; Diaz, Rodrigo Munoz; Mignot, Cyril; Keren, Boris; Heron, Benedicte; De Bie, Charlotte; Van Gassen, Koen; Loisel, Didier; Delorme, Benoit; Syrbe, Steffen; Klabunde-Cherwon, Annick; Abou Jamra, Rami; Wegler, Meret; Callewaert, Bert; Dheedene, Annelies; Zidane-Marinnes, Merzouka; Guichet, Agnes; Bris, Celine; Van Bogaert, Patrick; Biquard, Florence; Lenaers, Guy; Marcorelles, Pascale; Ferec, Claude; Gonzalez, Bruno; Procaccio, Vincent; Vitobello, Antonio; Bonneau, Dominique; Laquerriere, Annie; Khiati, Salim; Colin, Estelle 分享 收藏
Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability Baca, Maria del Rocio Perez; Jacobs, Eva Z.; Vantomme, Lies; Leblanc, Pontus; Bogaert, Elke; Dheedene, Annelies; De Cock, Laurenz; Haghshenas, Sadegheh; Foroutan, Aidin; Levy, Michael A.; Kerkhof, Jennifer; Mcconkey, Haley; Chen, Chun -An; Batzir, Nurit Assia; Wang, Xia; Palomares, Maria; Carels, Marieke; Dermaut, Bart; Sadikovic, Bekim; Menten, Bjorn; Yuan, Bo; Vergult, Sarah; Callewaert, Bert 分享 收藏
Beyond gene-disease validity: capturing structured data on inheritance, allelic requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditions Josephs, Katherine S.; Roberts, Angharad M.; Theotokis, Pantazis; Walsh, Roddy; Ostrowski, Philip J.; Edwards, Matthew; Fleming, Andrew; Thaxton, Courtney; Roberts, Jason D.; Care, Melanie; Zareba, Wojciech; Adler, Arnon; Sturm, Amy C.; Tadros, Rafik; Novelli, Valeria; Owens, Emma; Bronicki, Lucas; Jarinova, Olga; Callewaert, Bert; Peters, Stacey; Lumbers, Tom; Jordan, Elizabeth; Asatryan, Babken; Krishnan, Neesha; Hershberger, Ray E.; Chahal, C. Anwar A.; Landstrom, Andrew P.; James, Cynthia; Mcnally, Elizabeth M.; Judge, Daniel P.; van Tintelen, Peter; Wilde, Arthur; Gollob, Michael; Ingles, Jodie; Ware, James S. 分享 收藏
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 mutations Szakszon, 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. 分享 收藏
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