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Ley-Ngardigal, S.; Claverol, S.; Sobilo, L.; Moreau, M.; Hubert, C.; Goupil, J.; Poulignon, A.; Mahfouf, W.; Fatrouni, H.; Dard, L.; Juan, M.; Gales, L.; Merched, A.; Tokarski, C.; Leblanc, E.; Galinier, A.; Lacombe, D.; Rezvani, H. R.; Bellvert, F.; Pays, K.; Nizard, C.; Amoedo, N. Dias; Bulteau, A. L.; Rossignol, R. Share Save Neurofibromatosis-Noonan syndrome: a prospective monocentric study of 26 patients and literature reviewBessis, Didier; Vidaud, Dominique; Meyer, Pierre; Pacot, Laurence; Villeon, de La G.; Bonnard, Adeline Alice; Capri, Yline; Coubes, Christine; Herman, Fanchon; Lacombe, Didier; Molinari, Nicolas; Poujade, Laura; Roubertie, Agathe; Van Gils, Julien; Verloes, Alain; Genevieve, David; Cave, Helene; Willems, Marjolaine Share Save Share Save Share Save Transcriptome and acetylome profiling identify crucial steps of neuronal differentiation in Rubinstein-Taybi syndromeVan Gils, Julien; Karkar, Slim; Barre, Aurelien; Ley-Ngardigal, Seyta; Nothof, Sophie; Claverol, Stephane; Tokarski, Caroline; Trani, Jean-Philippe; Chevalier, Raphael; Broucqsault, Natacha; El Yazidi, Claire; Lacombe, Didier; Fergelot, Patricia; Magdinier, Frederique Share Save Classification of PTEN germline non-truncating variants: a new approach to interpretationMargot, Henri; Jones, Natalie; Matis, Thibaut; Bonneau, Dominique; Busa, Tiffany; Bonnet, Francoise; Conrad, Solene; Crivelli, Louise; Monin, Pauline; Fert-Ferrer, Sandra; Mortemousque, Isabelle; Raad, Sabine; Lacombe, Didier; Caux, Frederic; Sevenet, Nicolas; Bubien, Virginie; Longy, Michel; French Cowden Dis Network Share Save Splice site variants in the canonical donor site of MED13L exon 7 lead to intron retention in patients with MED13L syndromeFauqueux, Jade; Boussion, Simon; Thuillier, Caroline; Meurisse, Evine; Lacombe, Didier; Willems, Marjolaine; Piton, Amelie; Ait-Yahya, Emilie; Ghoumid, Jamal; Smol, Thomas Share Save Acid sphingomyelinase deficiency in France: a retrospective survival studyMauhin, Wladimir; Guffon, Nathalie; Vanier, Marie T.; Froissart, Roseline; Cano, Aline; Douillard, Claire; Lavigne, Christian; Heron, Benedicte; Belmatoug, Nadia; Uzunhan, Yurdagul; Lacombe, Didier; Levade, Thierry; Duvivier, Aymeric; Pulikottil-Jacob, Ruth; Laredo, Fernando; Pichard, Samia; Lidove, Olivier Share Save Bardet-Biedl syndrome improved diagnosis criteria and management: Inter European Reference Networks consensus statement and recommendationsDollfus, Helene; Lilien, Marc R.; Maffei, Pietro; Verloes, Alain; Muller, Jean; Bacci, Giacomo M.; Cetiner, Metin; van den Akker, Erica L. T.; Pechhacker, Monika Grudzinska; Testa, Francesco; Lacombe, Didier; Stokman, Marijn F.; Simonelli, Francesca; Gouronc, Aurelie; Gavard, Amelie; van Haelst, Mieke M.; Koenig, Jens; Rossignol, Sylvie; Bergmann, Carsten; Zacchia, Miriam; Leroy, Bart P.; Mosbah, Helena; Van Eerde, Albertien M.; Mekahli, Djalila; Servais, Aude; Poitou, Christine; Valverde, Diana Share Save Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profilesHaghshenas, Sadegheh; Bout, Hidde J.; Schijns, Josephine M.; Levy, Michael A.; Kerkhof, Jennifer; Bhai, Pratibha; Mcconkey, Haley; Jenkins, Zandra A.; Williams, Ella M.; Halliday, Benjamin J.; Huisman, Sylvia A.; Lauffer, Peter; de Waard, Vivian; Witteveen, Laura; Banka, Siddharth; Brady, Angela F.; Galazzi, Elena; van Gils, Julien; Hurst, Anna C. E.; Kaiser, Frank J.; Lacombe, Didier; Martinez-Monseny, Antonio F.; Fergelot, Patricia; Monteiro, Fabiola P.; Parenti, Ilaria; Persani, Luca; Santos-Simarro, Fernando; Simpson, Brittany N.; Alders, Marielle; Robertson, Stephen P.; Sadikovic, Bekim; Menke, Leonie A. Share Save Dermatological manifestations in Costello syndrome: A prospective multicentric study of 31 HRAS-positive variant patientsBessis, Didier; Bursztejn, Anne-Claire; Morice-Picard, Fanny; Capri, Yline; Barbarot, Sebastien; Aubert, Helene; Bodet, Damien; Bourrat, Emmanuelle; Chiaverini, Christine; Poujade, Laura; Willems, Marjolaine; Rouanet, Jacques; Dompmartin-Blanchere, Anne; Genevieve, David; Gerard, Marion; Ginglinger, Emmanuelle; Hadj-Rabia, Smail; Martin, Ludovic; Mazereeuw-Hautier, Juliette; Bibas, Nathalie; Molinari, Nicolas; Herman, Fanchon; Phan, Alice; Rod, Julien; Roger, Hugues; Sigaudy, Sabine; Ziegler, Alban; Vial, Yoann; Verloes, Alain; Cave, Helene; Lacombe, Didier 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 Share Save Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disordersHusson, Thomas; Lecoquierre, Francois; Nicolas, Gael; Richard, Anne-Claire; Afenjar, Alexandra; Audebert-Bellanger, Severine; Badens, Catherine; Bilan, Frederic; Bizaoui, Varoona; Boland, Anne; Bonnet-Dupeyron, Marie-Noelle; Brischoux-Boucher, Elise; Bonnet, Celine; Bournez, Marie; Boute, Odile; Brunelle, Perrine; Caumes, Roseline; Charles, Perrine; Chassaing, Nicolas; Chatron, Nicolas; Cogne, Benjamin; Colin, Estelle; Cormier-Daire, Valerie; Dard, Rodolphe; Dauriat, Benjamin; Delanne, Julian; Deleuze, Jean-Francois; Demurger, Florence; Denomme-Pichon, Anne-Sophie; Depienne, Christel; Dieux, Anne; Dubourg, Christele; Edery, Patrick; El Chehadeh, Salima; Faivre, Laurence; Fergelot, Patricia; Fradin, Melanie; Garde, Aurore; Genevieve, David; Gilbert-Dussardier, Brigitte; Goizet, Cyril; Goldenberg, Alice; Gouy, Evan; Guerrot, Anne-Marie; Guimier, Anne; Harzalla, Ines; Heron, Delphine; Isidor, Bertrand; Lacombe, Didier; Horn, Xavier Le Guillou; Keren, Boris; Kuechler, Alma; Lacaze, Elodie; Lavillaureix, Alinoe; Lehalle, Daphne; Lesca, Gaetan; Lespinasse, James; Levy, Jonathan; Lyonnet, Stanislas; Morel, Godelieve; Jean-Marcais, Nolwenn; Marlin, Sandrine; Marsili, Luisa; Mignot, Cyril; Nambot, Sophie; Nizon, Mathilde; Olaso, Robert; Pasquier, Laurent; Perrin, Laurine; Petit, Florence; Pingault, Veronique; Piton, Amelie; Prieur, Fabienne; Putoux, Audrey; Planes, Marc; Odent, Sylvie; Quelin, Chloe; Quemener-Redon, Sylvia; Rama, Melanie; Rio, Marlene; Rossi, Massimiliano; Schaefer, Elise; Rondeau, Sophie; Saugier-Veber, Pascale; Smol, Thomas; Sigaudy, Sabine; Touraine, Renaud; Mau-Them, Frederic Tran; Trimouille, Aurelien; Van Gils, Julien; Vanlerberghe, Clemence; Vantalon, Valerie; Vera, Gabriella; Vincent, Marie; Ziegler, Alban; Guillin, Olivier; Campion, Dominique; Charbonnier, Camille Share Save CBP-HSF2 structural and functional interplay in Rubinstein-Taybi neurodevelopmental disorder (vol 13, 7002, 2022)de Thonel, Aurelie; Ahlskog, Johanna K.; Daupin, Kevin; Dubreuil, Veronique; Berthelet, Jeremy; Chaput, Carole; Pires, Geoffrey; Leonetti, Camille; Abane, Ryma; Barris, Lluis Cordon; Leray, Isabelle; Aalto, Anna L.; Naceri, Sarah; Cordonnier, Marine; Benasolo, Carene; Sanial, Matthieu; Duchateau, Agathe; Vihervaara, Anniina; Puustinen, Mikael C.; Miozzo, Federico; Fergelot, Patricia; Lebigot, Elise; Verloes, Alain; Gressens, Pierre; Lacombe, Didier; Gobbo, Jessica; Garrido, Carmen; Westerheide, Sandy D.; David, Laurent; Petitjean, Michel; Taboureau, Olivier; Rodrigues-Lima, Fernando; Passemard, Sandrine; Saberan-Djoneidi, Delara; Nguyen, Laurent; Lancaster, Madeline; Sistonen, Lea; Mezger, Valerie Share Save Monoallelic intragenic POU3F2 variants lead to neurodevelopmental delay and hyperphagic obesity, confirming the gene's candidacy in 6q16.1 deletionsSchonauer, Ria; Jin, Wenjun; Findeisen, Christin; Valenzuela, Irene; Devlin, Laura Alice; Murrell, Jill; Bedoukian, Emma C.; Poschla, Linda; Hantmann, Elena; Riedhammer, Korbinian M.; Hoefele, Julia; Platzer, Konrad; Biemann, Ronald; Campeau, Philipp M.; Munch, Johannes; Heyne, Henrik; Hoffmann, Anne; Ghosh, Adhideb; Sun, Wenfei; Dong, Hua; Noe, Falko; Wolfrum, Christian; Woods, Emily; Parker, Michael J.; Neatu, Ruxandra; Guyader, Gwenael Le; Bruel, Ange-Line; Perrin, Laurence; Spiewak, Helena; Missotte, Isabelle; Fourgeaud, Melanie; Michaud, Vincent; Lacombe, Didier; Paolucci, Sarah A.; Buchan, Jillian G.; Glissmeyer, Margaret; Popp, Bernt; Bluher, Matthias; Sayer, John A.; Halbritter, Jan Share Save Article The E3 ubiquitin ligase FBXL6 controls the quality of newly synthesized mitochondrial ribosomal proteinsLavie, Julie; Lalou, Claude; Mahfouf, Walid; Dupury, Jean-William; Lacaule, Aurelie; Cywinska, Agata Ars; Lacombe, Didier; Duchene, Anne-Marie; Raymond, Anne-Aureli; Rezvani, Hamid Reza; Ngondo, Richard Patryk; Benard, Giovanni Share Save 
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