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Complete loss of IFT27 function leads to a phenotypic spectrum of fetal lethal ciliopathy associated with altered ciliogenesis Haim, David; Roux, Nathalie; Boutaud, Lucile; Verlin, Laure; Quelin, Chloe; Moncler, Candice; Bourgon, Nicolas; Achaiia, Amale; Roth, Philippe; Marijon, Pierre; Vanlieferinghen, Sarah; Thomas, Sophie; Attie-Bitach, Tania Share Save
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Pathogenic PDE12 variants impair mitochondrial RNA processing causing neonatal mitochondrial disease Van Haute, Lindsey; Palenikova, Petra; Tang, Jia Xin; Nash, Pavel A.; Simon, Mariella T.; Pyle, Angela; Olahova, Monika; Powell, Christopher A.; Rebelo-Guiomar, Pedro; Stover, Alexander; Champion, Michael; Deshpande, Charulata; Baple, Emma L.; Stals, Karen L.; Ellard, Sian; Anselem, Olivia; Molac, Clemence; Petrilli, Giulia; Loeuillet, Laurence; Grotto, Sarah; Attie-Bitach, Tania; Abdenur, Jose E.; Taylor, Robert W.; Minczuk, Michal Share Save
Inferring disease course from differential exon usage in the wide titinopathy spectrum Di Feo, Maria Francesca; Oghabian, Ali; Nippala, Ella; Gautel, Mathias; Jungbluth, Heinz; Forzano, Francesca; Malfatti, Edoardo; Castiglioni, Claudia; Krey, Ilona; Andres, David Gomez; Brady, Angela F.; Iascone, Maria; Cereda, Anna; Pezzani, Lidia; De Benito, Daniel Natera; Osorio, Andres Nascimiento; Arias, Berta Estevez; Kurbatov, Sergei A.; Attie-Bitach, Tania; Nampoothiri, Sheela; Ryan, Erin; Morrow, Michelle; Gorokhova, Svetlana; Chabrol, Brigitte; Sinisalo, Juha; Tolppanen, Heli; Tolva, Johanna; Munell, Francina; Soriano, Jessica Camacho; Duran, Maria Angeles Sanchez; Johari, Mridul; Tajsharghi, Homa; Hackman, Peter; Udd, Bjarne; Savarese, Marco Share Save
Extending the clinical spectrum of X-linked Tonne-Kalscheuer syndrome (TOKAS): new insights from the fetal perspective Cuinat, Silvestre; Quelin, Chloe; Effray, Claire; Dubourg, Christele; Le Bouar, Gwenaelle; Cabaret-Dufour, Anne-Sophie; Loget, Philippe; Proisy, Maia; Sauvestre, Fanny; Sarreau, Melie; Martin-Berenguer, Sophie; Beneteau, Claire; Naudion, Sophie; Michaud, Vincent; Arveiler, Benoit; Trimouille, Aurelien; Mace, Pierre; Sigaudy, Sabine; Glazunova, Olga; Torrents, Julia; Raymond, Laure; Saint-Frison, Marie-Helene; Attie-Bitach, Tania; Lefebvre, Mathilde; Capri, Yline; Bourgon, Nicolas; Thauvin-Robinet, Christel; Tran Mau-Them, Frederic; Bruel, Ange-Line; Vitobello, Antonio; Denomme-Pichon, Anne-Sophie; Faivre, Laurence; Brehin, Anne-Claire; Goldenberg, Alice; Patrier-Sallebert, Sophie; Perani, Alexandre; Dauriat, Benjamin; Bourthoumieu, Sylvie; Yardin, Catherine; Marquet, Valentine; Barnique, Marion; Fiorenza-Gasq, Maryse; Marey, Isabelle; Tournadre, Danielle; Doumit, Raia; Nugues, Frederique; Barakat, Tahsin Stefan; Bustos, Francisco; Jaillard, Sylvie; Launay, Erika; Pasquier, Laurent; Odent, Sylvie Share Save
Objectivizing issues in the diagnosis of complex rare diseases: lessons learned from testing existing diagnosis support systems on ciliopathies Faviez, Carole; Chen, Xiaoyi; Garcelon, Nicolas; Zaidan, Mohamad; Billot, Katy; Petzold, Friederike; Faour, Hassan; Douillet, Maxime; Rozet, Jean-Michel; Cormier-Daire, Valerie; Attie-Bitach, Tania; Lyonnet, Stanislas; Saunier, Sophie; Burgun, Anita Share Save
The phenotype of MEGF8-related Carpenter syndrome (CRPT2) is refined through the identification of eight new patients Watts, Laura M.; Bertoli, Marta; Attie-Bitach, Tania; Roux, Natalie; Rausell, Antonio; Paschal, Cate R.; Zambonin, Jessica L.; Curry, Cynthia J.; Martin, Blanche; Tooze, Rebecca S.; Hawkes, Lara; Kini, Usha; Twigg, Stephen R. F.; Wilkie, Andrew O. M. Share Save
Differential alternative splicing analysis links variation in ZRSR2 to a novel type of oral-facial-digital syndrome Hannes, Laurens; Atzori, Marta; Goldenberg, Alice; Argente, Jesus; Attie-Bitach, Tania; Amiel, Jeanne; Attanasio, Catia; Braslavsky, Debora G.; Bruel, Ange-Line; Castanet, Mireille; Dubourg, Christele; Jacobs, An; Lyonnet, Stanislas; Martinez-Mayer, Julian; Millan, Maria Ines Perez; Pezzella, Nunziana; Pelgrims, Elise; Aerden, Mio; Bauters, Marijke; Rochtus, Anne; Scaglia, Paula; Swillen, Ann; Sifrim, Alejandro; Tammaro, Roberta; Mau-Them, Frederic Tran; Odent, Sylvie; Thauvin-Robinet, Christel; Franco, Brunella; Breckpot, Jeroen Share Save
A cell fate decision map reveals abundant direct neurogenesis bypassing intermediate progenitors in the human developing neocortex Coquand, Laure; Avalos, Clarisse Brunet; Mace, Anne-Sophie; Farcy, Sarah; Di Cicco, Amandine; Lampic, Marusa; Wimmer, Ryszard; Bessieres, Betina; Attie-Bitach, Tania; Fraisier, Vincent; Sens, Pierre; Guimiot, Fabien; Brault, Jean-Baptiste; Baffet, Alexandre D. Share Save
Expanding the phenotypic spectrum of LIG4 pathogenic variations: neuro-histopathological description of 4 fetuses with stenosis of the aqueduct Nicolle, Romain; Boutaud, Lucile; Loeuillet, Laurence; Talhi, Naima; Grotto, Sarah; Bourgon, Nicolas; Feresin, Agnese; Coussement, Aurelie; Barrois, Mathilde; Beaujard, Marie-Paule; Rambaud, Thomas; Razavi, Ferechte; Attie-Bitach, Tania Share Save
Next generation phenotyping for diagnosis and phenotype-genotype correlations in Kabuki syndrome Hennocq, Quentin; Willems, Marjolaine; Amiel, Jeanne; Arpin, Stephanie; Attie-Bitach, Tania; Bongibault, Thomas; Bouygues, Thomas; Cormier-Daire, Valerie; Corre, Pierre; Dieterich, Klaus; Douillet, Maxime; Feydy, Jean; Galliani, Eva; Giuliano, Fabienne; Lyonnet, Stanislas; Picard, Arnaud; Porntaveetus, Thantrira; Rio, Marlene; Rouxel, Flavien; Shotelersuk, Vorasuk; Toutain, Annick; Yauy, Kevin; Genevieve, David; Khonsari, Roman H.; Garcelon, Nicolas Share Save
Clinico-biological refinement of BCL11B-related disorder and identification of an episignature: A series of 20 unreported individuals Sabbagh, Quentin; Haghshenas, Sadegheh; Piard, Juliette; Trouve, Chloe; Amiel, Jeanne; Attie-Bitach, Tania; Balci, Tugce; Barat-Houari, Mouna; Belonis, Alyce; Boute, Odile; Brightman, Diana S.; Bruel, Ange-Line; Caraffi, Stefano Giuseppe; Chatron, Nicolas; Collet, Corinne; Dufour, William; Edery, Patrick; Fong, Chin-To; Fusco, Carlo; Gatinois, Vincent; Gouy, Evan; Guerrot, Anne-Marie; Heide, Solveig; Joshi, Aakash; Karp, Natalya; Keren, Boris; Lesieur-Sebellin, Marion; Levy, Jonathan; Levy, Michael A.; Lozano, Claire; Lyonnet, Stanislas; Margot, Henri; Marzin, Pauline; Mcconkey, Haley; Michaud, Vincent; Nicolas, Gael; Nizard, Mevyn; Paulet, Alix; Peluso, Francesca; Pernin, Vincent; Perrin, Laurence; Philippe, Christophe; Prasad, Chitra; Prasad, Madhavi; Relator, Raissa; Rio, Marlene; Rondeau, Sophie; Ruault, Valentin; Ruiz-Pallares, Nathalie; Sanchez, Elodie; Shears, Debbie; Siu, Victoria Mok; Sorlin, Arthur; Tedder, Matthew; Tharreau, Mylene; Mau-Them, Frederic Tran; Laan, Liselot van der; Van Gils, Julien; Verloes, Alain; Whalen, Sandra; Willems, Marjolaine; Yauy, Kevin; Zuntini, Roberta; Kerkhof, Jennifer; Sadikovic, Bekim; Genevieve, David Share Save
Loss-of-function variants in ZEB1 cause dominant anomalies of the corpus callosum with favourable cognitive prognosis Heide, Solveig; Argilli, Emanuela; Valence, Stephanie; Boutaud, Lucile; Roux, Nathalie; Mignot, Cyril; Nava, Caroline; Keren, Boris; Giraudat, Kim; Faudet, Anne; Gerasimenko, Anna; Garel, Catherine; Blondiaux, Eleonore; Rastetter, Agnes; Grevent, David; Le, Carolyn; Mackenzie, Lisa; Richards, Linda; Attie-Bitach, Tania; Depienne, Christel; Sherr, Elliott; Heron, Delphine Share Save
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Clinical and functional heterogeneity associated with the disruption of retinoic acid receptor beta Caron, Veronique; Chassaing, Nicolas; Ragge, Nicola; Boschann, Felix; Ngu, Angelina My-Hoa; Meloche, Elisabeth; Chor, Sarah; Lakhani, Saquib A.; Ji, Weizhen; Steiner, Laurie; Marcadier, Julien; Jansen, Philip R.; van de Pol, Laura A.; van Hagen, Johanna M.; Russi, Alvaro Serrano; Le Guyader, Gwenael; Nordenskjold, Magnus; Nordgren, Ann; Anderlid, Britt-Marie; Plaisancie, Julie; Stoltenburg, Corinna; Horn, Denise; Drenckhahn, Anne; Hamdan, Fadi F.; Lefebvre, Mathilde; Attie-Bitach, Tania; Forey, Peggy; Smirnov, Vasily; Ernould, Francoise; Jacquemont, Marie-Line; Grotto, Sarah; Alcantud, Alberto; Coret, Alicia; Ferrer-Avargues, Rosario; Srivastava, Siddharth; Vincent-Delorme, Catherine; Romoser, Shelby; Safina, Nicole; Saade, Dimah; Lupski, James R.; Calame, Daniel G.; Genevieve, David; Chatron, Nicolas; Schluth-Bolard, Caroline; Myers, Kenneth A.; Dobyns, William B.; Calvas, Patrick; Salmon, Caroline; Holt, Richard; Elmslie, Frances; Allaire, Marc; Prigozhin, Daniil M.; Tremblay, Andre; Michaud, Jacques L. Share Save
Deficiency of the minor spliceosome component U4atac snRNA secondarily results in ciliary defects in human and zebrafish Khatri, Deepak; Putoux, Audrey; Cologne, Audric; Kaltenbach, Sophie; Besson, Alicia; Bertiaux, Eloise; Guguin, Justine; Fendler, Adele; Dupont, Marie A.; Benoit-Pilven, Clara; Qebibo, Leila; Ahmed-Elie, Samira; Audebert-Bellanger, Severine; Blanc, Pierre; Rambaud, Thomas; Castelle, Martin; Cornen, Gaelle; Grotto, Sarah; Guet, Agnes; Guibaud, Laurent; Michot, Caroline; Odent, Sylvie; Ruaud, Lyse; Sacaze, Elise; Hamel, Virginie; Bordonne, Remy; Leutenegger, Anne -Louise; Edery, Patrick; Burglen, Lydie; Attie-Bitach, Tania; Mazoyer, Sylvie; Delous, Marion Share Save
Bi-allelic variations in CRB2, encoding the crumbs cell polarity complex component 2, lead to non-communicating hydrocephalus due to atresia of the aqueduct of sylvius and central canal of the medulla Tessier, Aude; Roux, Nathalie; Boutaud, Lucile; Lunel, Elodie; Hakkakian, Leila; Parisot, Melanie; Garfa-Traore, Meriem; Ichkou, Amale; Elkhartoufi, Nadia; Bole, Christine; Nitschke, Patrick; Amiel, Jeanne; Martinovic, Jelena; Encha-Razavi, Ferechte; Attie-Bitach, Tania; Thomas, Sophie Share Save
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