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Genome sequencing identifies RMND1 as a strong candidate gene for severe prenatal kidney failure mimicking renal tubular dysgenesis associated with hyporeninism Marsili, Luisa; Mantecon, Matthieu; Arrondel, Christelle; Barcia, Giulia; Assouline, Zahra; Gribouval, Olivier; Wellesley, Diana; Harrison, Victoria; Marijon, Pierre; Colson, Cindy; Stichelbout, Morgane; Gubler, Marie-Claire; Antignac, Corinne; Rotig, Agnes; Heidet, Laurence Share Save
Reanalysis of unsolved prenatal exome sequencing for structural defects: diagnostic yield and contribution of postnatal/postmortem features Thauvin-Robinet, Christel; Garde, Aurore; Favier, Maud; Delanne, Julian; Racine, Caroline; Rousseau, Thierry; Nambot, Sophie; Bruel, Ange-Line; Moutton, Sebastien; Quelin, Chloe; Colson, Cindy; Brehin, Anne-Claire; Guerrot, Anne-Marie; Rooryck, Caroline; Putoux, Audrey; Blanchet, Patricia; Odent, Sylvie; Schaefer, Elise; Boute, Odile; Goldenberg, Alice; Guichet, Agnes; Abel, Carine; Morel, Godelieve; Fradin, Melanie; Isidor, Bertrand; Vincent, Marie; Francannet, Christine; Vera, Gabriella; Petit, Florence; Nizon, Mathilde; Wells, Constance; Jeanne, Mederic; Deiller, Caroline; Ziegler, Alban; Godin, Manon; Saugier-Veber, Pascale; Cassinari, Kevin; Blanc, Pierre; Simon, Emmanuel; Binquet, Christine; Duffourd, Yannis; Safraou, Hana; Denomme-Pichon, Anne-Sophie; Vitobello, Antonio; Philippe, Christophe; Faivre, Laurence; Tran-Mau-Them, Frederic; Bourgon, Nicolas Share Save
The Phenotypic and Genotypic Spectrum of BRPF1-Related Disorder: 29 New Patients and Literature Review Colson, Cindy; Tessarech, Marine; Boucher-Brischoux, Elise; Boute-Benejean, Odile; Vincent-Delorme, Catherine; Vanlerberghe, Clemence; Boussion, Simon; Le Cunff, Justine; Duban-Bedu, Benedicte; Faivre, Laurence; Thauvin, Christel; Philippe, Christophe; Bruel, Ange-Line; Mau-Them, Frederic Tran; Houdayer, Clara; Lesca, Gaetan; Putoux, Audrey; Levy, Jonathan; Patat, Olivier; Rio, Marlene; Ghoumid, Jamal; Smol, Thomas Share Save
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
Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome Tessadori, Federico; Duran, Karen; Knapp, Karen; Fellner, Matthias; Smithson, Sarah; Meireles, Ana Beleza; Elting, Mariet W.; Waisfisz, Quinten; O'Donnell-Luria, Anne; Nowak, Catherine; Douglas, Jessica; Ronan, Anne; Brunet, Theresa; Kotzaeridou, Urania; Svihovec, Shayna; Saenz, Margarita S.; Thiffault, Isabelle; Del Viso, Florencia; Devine, Patrick; Rego, Shannon; Tenney, Jessica; van Haeringen, Arie; Ruivenkamp, Claudia A. L.; Koene, Saskia; Robertson, Stephen P.; Deshpande, Charulata; Pfundt, Rolph; Verbeek, Nienke; van de Kamp, Jiddeke M.; Weiss, Janneke M. M.; Ruiz, Anna; Gabau, Elisabeth; Banne, Ehud; Pepler, Alexander; Bottani, Armand; Laurent, Sacha; Guipponi, Michel; Bijlsma, Emilia; Bruel, Ange-Line; Sorlin, Arthur; Willis, Mary; Powis, Zoe; Smol, Thomas; Vincent-Delorme, Catherine; Baralle, Diana; Colin, Estelle; Revencu, Nicole; Calpena, Eduardo; Wilkie, Andrew O. M.; Chopra, Maya; Cormier-Daire, Valerie; Keren, Boris; Afenjar, Alexandra; Niceta, Marcello; Terracciano, Alessandra; Specchio, Nicola; Tartaglia, Marco; Rio, Marlene; Barcia, Giulia; Rondeau, Sophie; Colson, Cindy; Bakkers, Jeroen; Mace, Peter D.; Bicknell, Louise S.; van Haaften, Gijs Share Save
Joint involvement in Noonan syndrome. A retrospective paediatric descriptive study Le Quellec, Aurore; Edouard, Thomas; Audebert-Bellanger, Severine; Pouzet, Antoine; Bourdet, Karine; Colson, Cindy; Oriot, Charlotte; Poignant, Sylvaine; Saraux, Alain; Devauchelle-Pensec, Valerie Share Save
Functional analysis of TLK2 variants and their proximal interactomes implicates impaired kinase activity and chromatin maintenance defects in their pathogenesis Pavinato, Lisa; Villamor-Paya, Marina; Sanchiz-Calvo, Maria; Andreoli, Cristina; Gay, Marina; Vilaseca, Marta; Arauz-Garofalo, Gianluca; Ciolfi, Andrea; Bruselles, Alessandro; Pippucci, Tommaso; Prota, Valentina; Carli, Diana; Giorgio, Elisa; Radio, Francesca Clementina; Antona, Vincenzo; Giuffre, Mario; Ranguin, Kara; Colson, Cindy; De Rubeis, Silvia; Dimartino, Paola; Buxbaum, Joseph D.; Ferrero, Giovanni Battista; Tartaglia, Marco; Martinelli, Simone; Stracker, Travis H.; Brusco, Alfredo Share Save
Evolutionary conserved NSL complex/BRD4 axis controls transcription activation via histone acetylation Gaub, Aline; Sheikh, Bilal N.; Basilicata, M. Felicia; Vincent, Marie; Nizon, Mathilde; Colson, Cindy; Bird, Matthew J.; Bradner, James E.; Thevenon, Julien; Boutros, Michael; Akhtar, Asifa Share Save
Maternal Transmission Ratio Distortion of GNAS Loss-of-Function Mutations Snanoudj, Sarah; Molin, Arnaud; Colson, Cindy; Coudray, Nadia; Paulien, Sylvie; Mittre, Herve; Gerard, Marion; Schaefer, Elise; Goldenberg, Alice; Bacchetta, Justine; Odent, Sylvie; Naudion, Sophie; Demeer, Benedicte; Faivre, Laurence; Gruchy, Nicolas; Kottler, Marie-Laure; Richard, Nicolas Share Save
Outcomes of 4 years of molecular genetic diagnosis on a panel of genes involved in premature aging syndromes, including laminopathies and related disorders Grelet, Maude; Blanck, Veronique; Sigaudy, Sabine; Philip, Nicole; Giuliano, Fabienne; Khachnaoui, Khaoula; Morel, Godelieve; Grotto, Sarah; Sophie, Julia; Poirsier, Celine; Lespinasse, James; Alric, Laurent; Calvas, Patrick; Chalhoub, Gihane; Layet, Valerie; Molin, Arnaud; Colson, Cindy; Marsili, Luisa; Edery, Patrick; Levy, Nicolas; De Sandre-Giovannoli, Annachiara Share Save
Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders Guo, Hui; Bettella, Elisa; Marcogliese, Paul C.; Zhao, Rongjuan; Andrews, Jonathan C.; Nowakowski, Tomasz J.; Gillentine, Madelyn A.; Hoekzema, Kendra; Wang, Tianyun; Wu, Huidan; Jangam, Sharayu; Liu, Cenying; Ni, Hailun; Willemsen, Marjolein H.; van Bon, Bregje W.; Rinne, Tuula; Stevens, Servi J. C.; Kleefstra, Tjitske; Brunner, Han G.; Yntema, Helger G.; Long, Min; Zhao, Wenjing; Hu, Zhengmao; Colson, Cindy; Richard, Nicolas; Schwartz, Charles E.; Romano, Corrado; Castiglia, Lucia; Bottitta, Maria; Dhar, Shweta U.; Erwin, Deanna J.; Emrick, Lisa; Keren, Boris; Afenjar, Alexandra; Zhu, Baosheng; Bai, Bing; Stankiewicz, Pawel; Herman, Kristin; Mercimek-Andrews, Saadet; Juusola, Jane; Wilfert, Amy B.; Abou Jamra, Rami; Buettner, Benjamin; Mefford, Heather C.; Muir, Alison M.; Scheffer, Ingrid E.; Regan, Brigid M.; Malone, Stephen; Gecz, Jozef; Cobben, Jan; Weiss, Marjan M.; Waisfisz, Quinten; Bijlsma, Emilia K.; Hoffer, Mariette J., V; Ruivenkamp, Claudia A. L.; Sartori, Stefano; Xia, Fan; Rosenfeld, Jill A.; Bernier, Raphael A.; Wangler, Michael F.; Yamamoto, Shinya; Xia, Kun; Stegmann, Alexander P. A.; Bellen, Hugo J.; Murgia, Alessandra; Eichler, Evan E.; Nickerson, Deborah A.; Bamshad, Michael J. Share Save
Multiplex targeted high-throughput sequencing in a series of 352 patients with congenital limb malformations Jourdain, Anne-Sophie; Petit, Florence; Odou, Marie-Francoise; Balduyck, Malika; Brunelle, Perrine; Dufour, William; Boussion, Simon; Brischoux-Boucher, Elise; Colson, Cindy; Dieux, Anne; Gerard, Marion; Ghoumid, Jamal; Giuliano, Fabienne; Goldenberg, Alice; Khau Van Kien, Philippe; Lehalle, Daphne; Morin, Gilles; Moutton, Sebastien; Smol, Thomas; Vanlerberghe, Clemence; Manouvrier-Hanu, Sylvie; Escande, Fabienne Share Save
High frequency of paternal iso or heterodisomy at chromosome 20 associated with sporadic pseudohypoparathyroidism 1B Colson, Cindy; Decamp, Matthieu; Gruchy, Nicolas; Coudray, Nadia; Ballandonne, Celine; Bracquemart, Claire; Molin, Arnaud; Mittre, Herve; Takatani, Rieko; Juppner, Harald; Kottler, Marie-Laure; Richard, Nicolas Share Save
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