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1. The detection of a strong episignature for Chung–Jansen syndrome, partially overlapping with Börjeson–Forssman–Lehmann and White–Kernohan syndromes

Author: Vos, Niels, Haghshenas, Sadegheh, van der Laan, Liselot, Russel, Perle K. M., Rooney, Kathleen, Levy, Michael A., Relator, Raissa, Kerkhof, Jennifer, McConkey, Haley, Maas, Saskia M., Vissers, Lisenka E. L. M., de Vries, Bert B. A., Pfundt, Rolph, Elting, Mariet W., van Hagen, Johanna M., Verbeek, Nienke E., Jongmans, Marjolijn C. J., Lakeman, Phillis, Rumping, Lynne, Bosch, Danielle G. M., Vitobello, Antonio, Thauvin-Robinet, Christel, Faivre, Laurence, Nambot, Sophie, Garde, Aurore, Willems, Marjolaine, Genevieve, David, Nicolas, Gaël, Busa, Tiffany, Toutain, Annick, Gérard, Marion, Bizaoui, Varoona, Isidor, Bertrand, Merla, Giuseppe, Accadia, Maria, Schwartz, Charles E., Ounap, Katrin, Hoffer, Mariëtte J. V., Nezarati, Marjan M., van den Boogaard, Marie-José H., Tedder, Matthew L., Rogers, Curtis, Brusco, Alfredo, Ferrero, Giovanni B., Spodenkiewicz, Marta, Sidlow, Richard, Mussa, Alessandro, Trajkova, Slavica, McCann, Emma, Mroczkowski, Henry J., Jansen, Sandra, Donker-Kaat, Laura, Duijkers, Floor A. M., Stuurman, Kyra E., Mannens, Marcel M. A. M., Alders, Mariëlle, Henneman, Peter, White, Susan M., Sadikovic, Bekim, and van Haelst, Mieke M.
Published: 2024
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2. Chromatin regulators in the TBX1 network confer risk for conotruncal heart defects in 22q11.2DS.

Author: Zhao, Yingjie, Wang, Yujue, Shi, Lijie, McDonald-McGinn, Donna, Crowley, T, McGinn, Daniel, Tran, Oanh, Miller, Daniella, Lin, Jhih-Rong, Zackai, Elaine, Johnston, H, Chow, Eva, Vorstman, Jacob, Vingerhoets, Claudia, van Amelsvoort, Therese, Gothelf, Doron, Swillen, Ann, Breckpot, Jeroen, Vermeesch, Joris, Eliez, Stephan, Schneider, Maude, van den Bree, Marianne, Owen, Michael, Kates, Wendy, Repetto, Gabriela, Shashi, Vandana, Schoch, Kelly, Digilio, M, Unolt, Marta, Putotto, Carolina, Marino, Bruno, Pontillo, Maria, Armando, Marco, Vicari, Stefano, Angkustsiri, Kathleen, Campbell, Linda, Busa, Tiffany, Heine-Suñer, Damian, Murphy, Kieran, Murphy, Declan, García-Miñaúr, Sixto, Fernández, Luis, Zhang, Zhengdong, Goldmuntz, Elizabeth, Gur, Raquel, Emanuel, Beverly, Zheng, Deyou, Marshall, Christian, Bassett, Anne, Wang, Tao, Morrow, Bernice, and Bearden, Carrie
Abstract: Congenital heart disease (CHD) affecting the conotruncal region of the heart, occurs in 40-50% of patients with 22q11.2 deletion syndrome (22q11.2DS). This syndrome is a rare disorder with relative genetic homogeneity that can facilitate identification of genetic modifiers. Haploinsufficiency of TBX1, encoding a T-box transcription factor, is one of the main genes responsible for the etiology of the syndrome. We suggest that genetic modifiers of conotruncal defects in patients with 22q11.2DS may be in the TBX1 gene network. To identify genetic modifiers, we analyzed rare, predicted damaging variants in whole genome sequence of 456 cases with conotruncal defects and 537 controls, with 22q11.2DS. We then performed gene set approaches and identified chromatin regulatory genes as modifiers. Chromatin genes with recurrent damaging variants include EP400, KAT6A, KMT2C, KMT2D, NSD1, CHD7 and PHF21A. In total, we identified 37 chromatin regulatory genes, that may increase risk for conotruncal heart defects in 8.5% of 22q11.2DS cases. Many of these genes were identified as risk factors for sporadic CHD in the general population. These genes are co-expressed in cardiac progenitor cells with TBX1, suggesting that they may be in the same genetic network. The genes KAT6A, KMT2C, CHD7 and EZH2, have been previously shown to genetically interact with TBX1 in mouse models. Our findings indicate that disturbance of chromatin regulatory genes impact the TBX1 gene network serving as genetic modifiers of 22q11.2DS and sporadic CHD, suggesting that there are some shared mechanisms involving the TBX1 gene network in the etiology of CHD.
Published: 2023

3. YWHAE loss of function causes a rare neurodevelopmental disease with brain abnormalities in human and mouse

Author: Denommé-Pichon, Anne-Sophie, Collins, Stephan C., Bruel, Ange-Line, Mikhaleva, Anna, Wagner, Christel, Vancollie, Valerie E., Thomas, Quentin, Chevarin, Martin, Weber, Mathys, Prada, Carlos E., Overs, Alexis, Palomares-Bralo, María, Santos-Simarro, Fernando, Pacio-Míguez, Marta, Busa, Tiffany, Legius, Eric, Bacino, Carlos A., Rosenfeld, Jill A., Le Guyader, Gwenaël, Egloff, Matthieu, Le Guillou, Xavier, Mencarelli, Maria Antonietta, Renieri, Alessandra, Grosso, Salvatore, Levy, Jonathan, Dozières, Blandine, Desguerre, Isabelle, Vitobello, Antonio, Duffourd, Yannis, Lelliott, Christopher J., Thauvin-Robinet, Christel, Philippe, Christophe, Faivre, Laurence, and Yalcin, Binnaz
Published: 2023
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4. Complete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart Defects

Author: Zhao, Yingjie, Diacou, Alexander, Johnston, H Richard, Musfee, Fadi I, McDonald-McGinn, Donna M, McGinn, Daniel, Crowley, T Blaine, Repetto, Gabriela M, Swillen, Ann, Breckpot, Jeroen, Vermeesch, Joris R, Kates, Wendy R, Digilio, M Cristina, Unolt, Marta, Marino, Bruno, Pontillo, Maria, Armando, Marco, Di Fabio, Fabio, Vicari, Stefano, van den Bree, Marianne, Moss, Hayley, Owen, Michael J, Murphy, Kieran C, Murphy, Clodagh M, Murphy, Declan, Schoch, Kelly, Shashi, Vandana, Tassone, Flora, Simon, Tony J, Shprintzen, Robert J, Campbell, Linda, Philip, Nicole, Heine-Suñer, Damian, García-Miñaúr, Sixto, Fernández, Luis, Consortium, International 22q11 2 Brain and Behavior, Antonarakis, Stylianos E, Biondi, Massimo, Boot, Erik, Breetvelt, Elemi, Busa, Tiffany, Butcher, Nancy, Buzzanca, Antonino, Carmel, Miri, Cleynen, Isabelle, Cutler, David, Dallapiccola, Bruno, de la Fuente Sanches, María Angeles, Epstein, Michael P, Evers, Rens, Fernandez, Luis, Fritsch, Rosemarie, Algas, Fernando García, Guo, Tingwei, Gur, Raquel, Hestand, Matthew S, Heung, Tracy, Hooper, Stephen, Jin, Andrea, Kushan-Wells, Leila, Laorden-Nieto, Alejandra Teresa, Lattanzi, Guido, Marshall, Christian, McCabe, Kathryn, Michaelovsky, Elena, Ornstein, Claudia, Silversides, Candice, Tran, Oanh, van Duin, Esther DA, Vergaelen, Elfi, Warren, Steve T, Weinberger, Ronnie, Weizman, Abraham, Zhang, Zhengdong, Zwick, Michael, Bearden, Carrie E, Vingerhoets, Claudia, van Amelsvoort, Therese, Eliez, Stephan, Schneider, Maude, Vorstman, Jacob AS, Gothelf, Doron, Zackai, Elaine, Agopian, AJ, Gur, Raquel E, Bassett, Anne S, Emanuel, Beverly S, Goldmuntz, Elizabeth, Mitchell, Laura E, Wang, Tao, and Morrow, Bernice E
Subjects: Biological Sciences, Biomedical and Clinical Sciences, Genetics, Epidemiology, Health Sciences, Clinical Research, Human Genome, Heart Disease, Cardiovascular, Pediatric, Aetiology, 2.1 Biological and endogenous factors, Case-Control Studies, Chromosome Deletion, Chromosomes, Human, Pair 22, Cohort Studies, Female, Genome-Wide Association Study, Heart Defects, Congenital, Humans, Linkage Disequilibrium, Male, Phenotype, Polymorphism, Single Nucleotide, Proto-Oncogene Mas, Segmental Duplications, Genomic, International 22q11.2 Brain and Behavior Consortium, CRKL, DiGeorge syndrome, TBX1, chromosome 22q11.2 deletion syndrome, complex trait, congenital heart disease, conotruncal heart defects, copy number variation, genetic association, genetic modifier, haploinsufficiency, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences
Abstract: The 22q11.2 deletion syndrome (22q11.2DS) results from non-allelic homologous recombination between low-copy repeats termed LCR22. About 60%-70% of individuals with the typical 3 megabase (Mb) deletion from LCR22A-D have congenital heart disease, mostly of the conotruncal type (CTD), whereas others have normal cardiac anatomy. In this study, we tested whether variants in the hemizygous LCR22A-D region are associated with risk for CTDs on the basis of the sequence of the 22q11.2 region from 1,053 22q11.2DS individuals. We found a significant association (FDR p < 0.05) of the CTD subset with 62 common variants in a single linkage disequilibrium (LD) block in a 350 kb interval harboring CRKL. A total of 45 of the 62 variants were associated with increased risk for CTDs (odds ratio [OR) ranges: 1.64-4.75). Associations of four variants were replicated in a meta-analysis of three genome-wide association studies of CTDs in affected individuals without 22q11.2DS. One of the replicated variants, rs178252, is located in an open chromatin region and resides in the double-elite enhancer, GH22J020947, that is predicted to regulate CRKL (CRK-like proto-oncogene, cytoplasmic adaptor) expression. Approximately 23% of patients with nested LCR22C-D deletions have CTDs, and inactivation of Crkl in mice causes CTDs, thus implicating this gene as a modifier. Rs178252 and rs6004160 are expression quantitative trait loci (eQTLs) of CRKL. Furthermore, set-based tests identified an enhancer that is predicted to target CRKL and is significantly associated with CTD risk (GH22J020946, sequence kernal association test (SKAT) p = 7.21 × 10-5) in the 22q11.2DS cohort. These findings suggest that variance in CTD penetrance in the 22q11.2DS population can be explained in part by variants affecting CRKL expression.
Published: 2020

5. A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

Author: Abbott, Kristin M., Banka, Siddharth, de Boer, Elke, Ciolfi, Andrea, Clayton-Smith, Jill, Dallapiccola, Bruno, Denommé-Pichon, Anne-Sophie, Faivre, Laurence, Gilissen, Christian, Haack, Tobias B., Havlovicova, Marketa, Hoischen, Alexander, Jackson, Adam, Kerstjens, Mieke, Kleefstra, Tjitske, Martín, Estrella López, Macek, Milan, Jr., Matalonga, Leslie, Maystadt, Isabelle, Morleo, Manuela, Nigro, Vicenzo, Pinelli, Michele, Pizzi, Simone, Posada, Manuel, Radio, Francesca C., Renieri, Alessandra, Riess, Olaf, Rooryck, Caroline, Ryba, Lukas, Agathe, Jean-Madeleine de Sainte, Santen, Gijs W.E., Schwarz, Martin, Tartaglia, Marco, Thauvin, Christel, Torella, Annalaura, Trimouille, Aurélien, Verloes, Alain, Vissers, Lisenka, Vitobello, Antonio, Votypka, Pavel, Zguro, Kristina, Boer, Elke de, Cohen, Enzo, Danis, Daniel, Gao, Fei, Horvath, Rita, Johari, Mridul, Johanson, Lennart, Li, Shuang, Morsy, Heba, Nelson, Isabelle, Paramonov, Ida, te Paske, Iris B.A.W., Robinson, Peter, Savarese, Marco, Steyaert, Wouter, Töpf, Ana, van der Velde, Joeri K., Vandrovcova, Jana, Graessner, Holm, Zurek, Birte, Ellwanger, Kornelia, Ossowski, Stephan, Demidov, German, Sturm, Marc, Schulze-Hentrich, Julia M., Schüle, Rebecca, Xu, Jishu, Kessler, Christoph, Wayand, Melanie, Synofzik, Matthis, Wilke, Carlo, Traschütz, Andreas, Schöls, Ludger, Hengel, Holger, Lerche, Holger, Kegele, Josua, Heutink, Peter, Brunner, Han, Scheffer, Hans, Hoogerbrugge, Nicoline, ‘t Hoen, Peter A.C., Vissers, Lisenka E.L.M., Sablauskas, Karolis, de Voer, Richarda M., Kamsteeg, Erik-Jan, van de Warrenburg, Bart, van Os, Nienke, Paske, Iris te, Janssen, Erik, Steehouwer, Marloes, Yaldiz, Burcu, Brookes, Anthony J., Veal, Colin, Gibson, Spencer, Maddi, Vatsalya, Mehtarizadeh, Mehdi, Riaz, Umar, Warren, Greg, Dizjikan, Farid Yavari, Shorter, Thomas, Straub, Volker, Bettolo, Chiara Marini, Manera, Jordi Diaz, Hambleton, Sophie, Engelhardt, Karin, Alexander, Elizabeth, Duffourd, Yannis, Bruel, Ange-Line, Peyron, Christine, Pélissier, Aurore, Beltran, Sergi, Gut, Ivo Glynne, Laurie, Steven, Piscia, Davide, Papakonstantinou, Anastasios, Bullich, Gemma, Corvo, Alberto, Fernandez-Callejo, Marcos, Hernández, Carles, Picó, Daniel, Lochmüller, Hanns, Gumus, Gulcin, Bros-Facer, Virginie, Rath, Ana, Hanauer, Marc, Lagorce, David, Hongnat, Oscar, Chahdil, Maroua, Lebreton, Emeline, Stevanin, Giovanni, Durr, Alexandra, Davoine, Claire-Sophie, Guillot-Noel, Léna, Heinzmann, Anna, Coarelli, Giulia, Bonne, Gisèle, Evangelista, Teresinha, Allamand, Valérie, Ben Yaou, Rabah, Metay, Corinne, Eymard, Bruno, Atalaia, Antonio, Stojkovic, Tanya, Turnovec, Marek, Thomasová, Dana, Kremliková, Radka Pourová, Franková, Vera, Havlovicová, Markéta, Lišková, Petra, Doležalová, Pavla, Parkinson, Helen, Keane, Thomas, Freeberg, Mallory, Thomas, Coline, Spalding, Dylan, Robert, Glenn, Costa, Alessia, Patch, Christine, Hanna, Mike, Houlden, Henry, Reilly, Mary, Efthymiou, Stephanie, Cali, Elisa, Magrinelli, Francesca, Sisodiya, Sanjay M., Rohrer, Jonathan, Muntoni, Francesco, Zaharieva, Irina, Sarkozy, Anna, Timmerman, Vincent, Baets, Jonathan, de Vries, Geert, De Winter, Jonathan, Beijer, Danique, de Jonghe, Peter, Van de Vondel, Liedewei, De Ridder, Willem, Weckhuysen, Sarah, Nigro, Vincenzo, Mutarelli, Margherita, Varavallo, Alessandra, Banfi, Sandro, Musacchia, Francesco, Piluso, Giulio, Ferlini, Alessandra, Selvatici, Rita, Gualandi, Francesca, Bigoni, Stefania, Rossi, Rachele, Neri, Marcella, Aretz, Stefan, Spier, Isabel, Sommer, Anna Katharina, Peters, Sophia, Oliveira, Carla, Pelaez, Jose Garcia, Matos, Ana Rita, José, Celina São, Ferreira, Marta, Gullo, Irene, Fernandes, Susana, Garrido, Luzia, Ferreira, Pedro, Carneiro, Fátima, Swertz, Morris A., Johansson, Lennart, van der Vries, Gerben, Neerincx, Pieter B., Ruvolo, David, Kerstjens Frederikse, Wilhemina S., Zonneveld-Huijssoon, Eveline, Roelofs-Prins, Dieuwke, van Gijn, Marielle, Köhler, Sebastian, Metcalfe, Alison, Drunat, Séverine, Heron, Delphine, Mignot, Cyril, Keren, Boris, Lacombe, Didier, Trimouille, Aurelien, Capella, Gabriel, Valle, Laura, Holinski-Feder, Elke, Laner, Andreas, Steinke-Lange, Verena, Cilio, Maria-Roberta, Carpancea, Evelina, Depondt, Chantal, Lederer, Damien, Sznajer, Yves, Duerinckx, Sarah, Mary, Sandrine, Macaya, Alfons, Cazurro-Gutiérrez, Ana, Pérez-Dueñas, Belén, Munell, Francina, Jarava, Clara Franco, Masó, Laura Batlle, Marcé-Grau, Anna, Colobran, Roger, Hackman, Peter, Udd, Bjarne, Hemelsoet, Dimitri, Dermaut, Bart, Schuermans, Nika, Poppe, Bruce, Verdin, Hannah, Osorio, Andrés Nascimento, Depienne, Christel, Roos, Andreas, Cordts, Isabell, Deschauer, Marcus, Striano, Pasquale, Zara, Federico, Riva, Antonella, Iacomino, Michele, Uva, Paolo, Scala, Marcello, Scudieri, Paolo, Başak, Ayşe Nazlı, Claeys, Kristl, Boztug, Kaan, Haimel, Matthias, W.E, Gijs, Ruivenkamp, Claudia A.L., Natera de Benito, Daniel, Thompson, Rachel, Polavarapu, Kiran, Grimbacher, Bodo, Zaganas, Ioannis, Kokosali, Evgenia, Lambros, Mathioudakis, Evangeliou, Athanasios, Spilioti, Martha, Kapaki, Elisabeth, Bourbouli, Mara, Radio, Francesca Clementina, Balicza, Peter, Molnar, Maria Judit, De la Paz, Manuel Posada, Sánchez, Eva Bermejo, Delgado, Beatriz Martínez, Alonso García de la Rosa, F. Javier, Schröck, Evelin, Rump, Andreas, Mei, Davide, Vetro, Annalisa, Balestrini, Simona, Guerrini, Renzo, Chinnery, Patrick F., Ratnaike, Thiloka, Schon, Katherine, Maver, Ales, Peterlin, Borut, Münchau, Alexander, Lohmann, Katja, Herzog, Rebecca, Pauly, Martje, May, Patrick, Beeson, David, Cossins, Judith, Furini, Simone, Fallerini, Chiara, Benetti, Elisa, Afenjar, Alexandra, Goldenberg, Alice, Masurel, Alice, Phan, Alice, Dieux-Coeslier, Anne, Fargeot, Anne, Guerrot, Anne-Marie, Toutain, Annick, Molin, Arnaud, Sorlin, Arthur, Putoux, Audrey, Jouret, Béatrice, Laudier, Béatrice, Demeer, Bénédicte, Doray, Bérénice, Bonniaud, Bertille, Isidor, Bertrand, Gilbert-Dussardier, Brigitte, Leheup, Bruno, Reversade, Bruno, Paul, Carle, Vincent-Delorme, Catherine, Neiva, Cecilia, Poirsier, Céline, Quélin, Chloé, Chiaverini, Christine, Coubes, Christine, Francannet, Christine, Colson, Cindy, Desplantes, Claire, Wells, Constance, Goizet, Cyril, Sanlaville, Damien, Amram, Daniel, Lehalle, Daphné, Geneviève, David, Gaillard, Dominique, Zivi, Einat, Sarrazin, Elisabeth, Steichen, Elisabeth, Schaefer, Élise, Lacaze, Elodie, Jacquemin, Emmanuel, Bongers, Ernie, Kilic, Esra, Colin, Estelle, Giuliano, Fabienne, Prieur, Fabienne, Laffargue, Fanny, Morice-Picard, Fanny, Petit, Florence, Cartault, François, Feillet, François, Baujat, Geneviève, Morin, Gilles, Diene, Gwenaëlle, Journel, Hubert, Perthus, Isabelle, Lespinasse, James, Alessandri, Jean-Luc, Amiel, Jeanne, Martinovic, Jelena, Delanne, Julian, Albuisson, Juliette, Lambert, Laëtitia, Perrin, Laurence, Ousager, Lilian Bomme, Van Maldergem, Lionel, Pinson, Lucile, Ruaud, Lyse, Samimi, Mahtab, Bournez, Marie, Bonnet-Dupeyron, Marie Noëlle, Vincent, Marie, Jacquemont, Marie-Line, Cordier-Alex, Marie-Pierre, Gérard-Blanluet, Marion, Willems, Marjolaine, Spodenkiewicz, Marta, Doco-Fenzy, Martine, Rossi, Massimiliano, Renaud, Mathilde, Fradin, Mélanie, Mathieu, Michèle, Holder-Espinasse, Muriel H., Houcinat, Nada, Hanna, Nadine, Leperrier, Nathalie, Chassaing, Nicolas, Philip, Nicole, Boute, Odile, Van Kien, Philippe Khau, Parent, Philippe, Bitoun, Pierre, Sarda, Pierre, Vabres, Pierre, Jouk, Pierre-Simon, Touraine, Renaud, El Chehadeh, Salima, Whalen, Sandra, Marlin, Sandrine, Passemard, Sandrine, Grotto, Sarah, Bellanger, Séverine Audebert, Blesson, Sophie, Nambot, Sophie, Naudion, Sophie, Lyonnet, Stanislas, Odent, Sylvie, Attie-Bitach, Tania, Busa, Tiffany, Drouin-Garraud, Valérie, Layet, Valérie, Bizaoui, Varoona, Cusin, Véronica, Capri, Yline, Alembik, Yves, Jean-Marçais, Nolwenn, López-Martín, Estrella, Macek, Milan, Mencarelli, Maria Antonietta, Moutton, Sébastien, Pfundt, Rolph, Safraou, Hana, Thauvin-Robinet, Christel, Thevenon, Julien, Tran Mau-Them, Frédéric, de Vries, Bert B.A., Willemsen, Marjolein H., and Philippe, Christophe
Published: 2023
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6. Accelerated genome sequencing with controlled costs for infants in intensive care units: a feasibility study in a French hospital network

Author: Denommé-Pichon, Anne-Sophie, Vitobello, Antonio, Olaso, Robert, Ziegler, Alban, Jeanne, Médéric, Tran Mau-Them, Frédéric, Couturier, Victor, Racine, Caroline, Isidor, Bertrand, Poë, Charlotte, Jouan, Thibaud, Boland, Anne, Fin, Bertrand, Bacq-Daian, Delphine, Besse, Céline, Garde, Aurore, Prost, Adeline, Garret, Philippine, Tisserant, Émilie, Delanne, Julian, Nambot, Sophie, Juven, Aurélien, Gorce, Magali, Nizon, Mathilde, Vincent, Marie, Moutton, Sébastien, Fradin, Mélanie, Lavillaureix, Alinoë, Rollier, Paul, Capri, Yline, Van-Gils, Julien, Busa, Tiffany, Sigaudy, Sabine, Pasquier, Laurent, Barth, Magalie, Bruel, Ange-Line, Flamant, Cyril, Prouteau, Clément, Bonneau, Dominique, Toutain, Annick, Chantegret, Corinne, Callier, Patrick, Philippe, Christophe, Duffourd, Yannis, Deleuze, Jean-François, Sorlin, Arthur, Faivre, Laurence, and Thauvin-Robinet, Christel
Published: 2022
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7. Natural history of NF1 c.2970_2972del p.(Met992del): confirmation of a low risk of complications in a longitudinal study

Author: Forde, Claire, Burkitt-Wright, Emma, Turnpenny, Peter D., Haan, Eric, Ealing, John, Mansour, Sahar, Holder, Muriel, Lahiri, Nayana, Dixit, Abhijit, Procter, Annie, Pacot, Laurence, Vidaud, Dominique, Capri, Yline, Gerard, Marion, Dollfus, Hélène, Schaefer, Elise, Quelin, Chloé, Sigaudy, Sabine, Busa, Tiffany, Vera, Gabriella, Damaj, Lena, Messiaen, Ludwine, Stevenson, David A., Davies, Peter, Palmer-Smith, Sheila, Callaway, Alison, Wolkenstein, Pierre, Pasmant, Eric, and Upadhyaya, Meena
Published: 2022
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8. Disruption and deletion of the proximal part of TCF4 are associated with mild intellectual disability: About three new patients

Author: Masson, Julie, Pons, Linda, Busa, Tiffany, Missirian, Chantal, Lines, Matthew, Tevissen, Hélène, Diguet, Flavie, Rollat-Farnier, Pierre-Antoine, Lesca, Gaétan, Sanlaville, Damien, and Schluth-Bolard, Caroline
Published: 2022
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9. Prenatal vs postnatal diagnosis of 22q11.2 deletion syndrome: cardiac and noncardiac outcomes through 1 year of age

Author: Freud, Lindsay R., Galloway, Stephanie, Crowley, T. Blaine, Moldenhauer, Julie, Swillen, Ann, Breckpot, Jeroen, Borrell, Antoni, Vora, Neeta L., Cuneo, Bettina, Hoffman, Hilary, Gilbert, Lisa, Nowakowska, Beata, Geremek, Maciej, Kutkowska-Kaźmierczak, Anna, Vermeesch, Joris R., Devriendt, Koen, Busa, Tiffany, Sigaudy, Sabine, Vigneswaran, Trisha, Simpson, John M., Dungan, Jeffrey, Gotteiner, Nina, Gloning, Karl-Philipp, Digilio, Maria Cristina, Unolt, Marta, Putotto, Carolina, Marino, Bruno, Repetto, Gabriela, Fadic, Magdalena, Garcia-Minaur, Sixto, Achón Buil, Ana, Thomas, Mary Ann, Fruitman, Deborah, Beecroft, Taylor, Hui, Pui Wah, Oskarsdottir, Solveig, Bradshaw, Rachael, Criebaum, Amanda, Norton, Mary E., Lee, Tiffany, Geiger, Miwa, Dunnington, Leslie, Isaac, Jacqueline, Wilkins-Haug, Louise, Hunter, Lindsey, Izzi, Claudia, Toscano, Marika, Ghi, Tullio, McGlynn, Julie, Romana Grati, Francesca, Emanuel, Beverly S., Gaiser, Kimberly, Gaynor, J. William, Goldmuntz, Elizabeth, McGinn, Daniel E., Schindewolf, Erica, Tran, Oanh, Zackai, Elaine H., Yan, Qi, Bassett, Anne S., Wapner, Ronald, and McDonald-McGinn, Donna M.
Published: 2024
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10. Care management in a French cohort with Down syndrome from the AnDDI-Rares/CNSA study

Author: Roux-Levy, Pierre-Henri, Sanlaville, Damien, De Freminville, Bénédicte, Touraine, Renaud, Masurel, Alice, Gueneau, Isabelle, Cotinaud-Ricou, Audrey, Chancenotte, Sophie, Debomy, Frédérique, Minot, Delphine, Bournez, Marie, Rousseau, Isabelle, Daniel, Sandrine, Gautier, Elodie, Lacombe, Didier, Taupiac, Emmanuelle, Odent, Sylvie, Mikaty, Myriam, Manouvrier, Sylvie, Ghoumid, Jamal, Geneviève, David, Lehman, Natacha, Busa, Tiffany, Edery, Charles-Patrick, Cornaton, Jenny, Gallard, Jennifer, Héron, Delphine, Rastel, Coralie, Thauvin-Robinet, Christel, Verloes, Alain, Binquet, Christine, Faivre, Laurence, and Lejeune, Catherine
Published: 2021
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11. Rare Genome-Wide Copy Number Variation and Expression of Schizophrenia in 22q11.2 Deletion Syndrome

Author: Bassett, Anne S, Lowther, Chelsea, Merico, Daniele, Costain, Gregory, Chow, Eva WC, van Amelsvoort, Therese, McDonald-McGinn, Donna, Gur, Raquel E, Swillen, Ann, Van den Bree, Marianne, Murphy, Kieran, Gothelf, Doron, Bearden, Carrie E, Eliez, Stephan, Kates, Wendy, Philip, Nicole, Sashi, Vandana, Campbell, Linda, Vorstman, Jacob, Cubells, Joseph, Repetto, Gabriela M, Simon, Tony, Boot, Erik, Heung, Tracy, Evers, Rens, Vingerhoets, Claudia, van Duin, Esther, Zackai, Elaine, Vergaelen, Elfi, Devriendt, Koen, Vermeesch, Joris R, Owen, Michael, Murphy, Clodagh, Michaelovosky, Elena, Kushan, Leila, Schneider, Maude, Fremont, Wanda, Busa, Tiffany, Hooper, Stephen, McCabe, Kathryn, Duijff, Sasja, Isaev, Karin, Pellecchia, Giovanna, Wei, John, Gazzellone, Matthew J, Scherer, Stephen W, Emanuel, Beverly S, Guo, Tingwei, Morrow, Bernice E, and Marshall, Christian R
Subjects: Pharmacology and Pharmaceutical Sciences, Biomedical and Clinical Sciences, Pediatric, Mental Health, Schizophrenia, Clinical Research, Brain Disorders, Human Genome, Biotechnology, Genetics, Prevention, Serious Mental Illness, Aetiology, 2.1 Biological and endogenous factors, Mental health, Adult, Autism Spectrum Disorder, Autistic Disorder, Chromosome Deletion, Chromosome Disorders, Chromosomes, Human, Pair 16, DNA Copy Number Variations, DiGeorge Syndrome, Female, Humans, Intellectual Disability, Male, Middle Aged, International 22q11.2DS Brain and Behavior Consortium, 22q11 Deletion Syndrome, Microdeletion, Psychosis, Structural Variants, Velocardiofacial Syndrome, Medical and Health Sciences, Psychology and Cognitive Sciences, Psychiatry, Clinical sciences, Clinical and health psychology
Abstract: ObjectiveChromosome 22q11.2 deletion syndrome (22q11.2DS) is associated with a more than 20-fold increased risk for developing schizophrenia. The aim of this study was to identify additional genetic factors (i.e., "second hits") that may contribute to schizophrenia expression.MethodThrough an international consortium, the authors obtained DNA samples from 329 psychiatrically phenotyped subjects with 22q11.2DS. Using a high-resolution microarray platform and established methods to assess copy number variation (CNV), the authors compared the genome-wide burden of rare autosomal CNV, outside of the 22q11.2 deletion region, between two groups: a schizophrenia group and those with no psychotic disorder at age ≥25 years. The authors assessed whether genes overlapped by rare CNVs were overrepresented in functional pathways relevant to schizophrenia.ResultsRare CNVs overlapping one or more protein-coding genes revealed significant between-group differences. For rare exonic duplications, six of 19 gene sets tested were enriched in the schizophrenia group; genes associated with abnormal nervous system phenotypes remained significant in a stepwise logistic regression model and showed significant interactions with 22q11.2 deletion region genes in a connectivity analysis. For rare exonic deletions, the schizophrenia group had, on average, more genes overlapped. The additional rare CNVs implicated known (e.g., GRM7, 15q13.3, 16p12.2) and novel schizophrenia risk genes and loci.ConclusionsThe results suggest that additional rare CNVs overlapping genes outside of the 22q11.2 deletion region contribute to schizophrenia risk in 22q11.2DS, supporting a multigenic hypothesis for schizophrenia. The findings have implications for understanding expression of psychotic illness and herald the importance of whole-genome sequencing to appreciate the overall genomic architecture of schizophrenia.
Published: 2017

12. Genome-Wide Association Study to Find Modifiers for Tetralogy of Fallot in the 22q11.2 Deletion Syndrome Identifies Variants in the GPR98 Locus on 5q14.3

Author: Guo, Tingwei, Repetto, Gabriela M, McDonald McGinn, Donna M, Chung, Jonathan H, Nomaru, Hiroko, Campbell, Christopher L, Blonska, Anna, Bassett, Anne S, Chow, Eva WC, Mlynarski, Elisabeth E, Swillen, Ann, Vermeesch, Joris, Devriendt, Koen, Gothelf, Doron, Carmel, Miri, Michaelovsky, Elena, Schneider, Maude, Eliez, Stephan, Antonarakis, Stylianos E, Coleman, Karlene, Tomita-Mitchell, Aoy, Mitchell, Michael E, Digilio, M Cristina, Dallapiccola, Bruno, Marino, Bruno, Philip, Nicole, Busa, Tiffany, Kushan-Wells, Leila, Bearden, Carrie E, Piotrowicz, Małgorzata, Hawuła, Wanda, Roberts, Amy E, Tassone, Flora, Simon, Tony J, van Duin, Esther DA, van Amelsvoort, Thérèse A, Kates, Wendy R, Zackai, Elaine, Johnston, H Richard, Cutler, David J, Agopian, AJ, Goldmuntz, Elizabeth, Mitchell, Laura E, Wang, Tao, Emanuel, Beverly S, and Morrow, Bernice E
Subjects: Biomedical and Clinical Sciences, Cardiovascular Medicine and Haematology, Genetics, Rare Diseases, Congenital Structural Anomalies, Clinical Research, Human Genome, Heart Disease, Cardiovascular, Pediatric, 2.1 Biological and endogenous factors, Aetiology, Congenital, Chromatin, Chromosomes, Human, Pair 5, DiGeorge Syndrome, Genetic Loci, Genome-Wide Association Study, Genotype, High-Throughput Nucleotide Sequencing, Humans, Linkage Disequilibrium, MEF2 Transcription Factors, Oligonucleotide Array Sequence Analysis, Phenotype, Polymorphism, Single Nucleotide, Receptors, G-Protein-Coupled, Sequence Analysis, DNA, Tetralogy of Fallot, chromosomes, DiGeorge syndrome, genotype, ivelo-cardio-facial syndrome, tetralogy of Fallot, International 22q11.2 Consortium/Brain and Behavior Consortium*, Medical Biotechnology, Cardiorespiratory Medicine and Haematology, Cardiovascular System & Hematology, Cardiovascular medicine and haematology
Abstract: The 22q11.2 deletion syndrome (22q11.2DS; DiGeorge syndrome/velocardiofacial syndrome) occurs in 1 of 4000 live births, and 60% to 70% of affected individuals have congenital heart disease, ranging from mild to severe. In our cohort of 1472 subjects with 22q11.2DS, a total of 62% (n=906) have congenital heart disease and 36% (n=326) of these have tetralogy of Fallot (TOF), comprising the largest subset of severe congenital heart disease in the cohort. To identify common genetic variants associated with TOF in individuals with 22q11.2DS, we performed a genome-wide association study using Affymetrix 6.0 array and imputed genotype data. In our cohort, TOF was significantly associated with a genotyped single-nucleotide polymorphism (rs12519770, P=2.98×10-8) in an intron of the adhesion GPR98 (G-protein-coupled receptor V1) gene on chromosome 5q14.3. There was also suggestive evidence of association between TOF and several additional single-nucleotide polymorphisms in this region. Some genome-wide significant loci in introns or noncoding regions could affect regulation of genes nearby or at a distance. On the basis of this possibility, we examined existing Hi-C chromatin conformation data to identify genes that might be under shared transcriptional regulation within the region on 5q14.3. There are 6 genes in a topologically associated domain of chromatin with GPR98, including MEF2C (Myocyte-specific enhancer factor 2C). MEF2C is the only gene that is known to affect heart development in mammals and might be of interest with respect to 22q11.2DS. In conclusion, common variants may contribute to TOF in 22q11.2DS and may function in cardiac outflow tract development.
Published: 2017

13. Growth charts in Cockayne syndrome type 1 and type 2

Author: Baer, Sarah, Tuzin, Nicolas, Kang, Peter B., Mohammed, Shehla, Kubota, Masaya, van Ierland, Yvette, Busa, Tiffany, Rossi, Massimiliano, Morel, Godelieve, Michot, Caroline, Baujat, Geneviève, Durand, Myriam, Obringer, Cathy, Le May, Nicolas, Calmels, Nadège, and Laugel, Vincent
Published: 2021
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14. Spliceosome malfunction causes neurodevelopmental disorders with overlapping features

Author: Genetica, Genetica Sectie Research, Cancer, Child Health, Li, Dong, Wang, Qin, Bayat, Allan, Battig, Mark R., Zhou, Yijing, Bosch, Daniëlle G.M., van Haaften, Gijs, Granger, Leslie, Petersen, Andrea K., Pérez-Jurado, Luis A., Aznar-Laín, Gemma, Aneja, Anushree, Hancarova, Miroslava, Bendova, Sarka, Schwarz, Martin, Pourova, Radka Kremlikova, Sedlacek, Zdenek, Keena, Beth A., March, Michael E., Hou, Cuiping, O’Connor, Nora, Bhoj, Elizabeth J., Harr, Margaret H., Lemire, Gabrielle, Boycott, Kym M., Towne, Meghan, Li, Megan, Tarnopolsky, Mark, Brady, Lauren, Parker, Michael J., Faghfoury, Hanna, Parsley, Lea Kristin, Agolini, Emanuele, Dentici, Maria Lisa, Novelli, Antonio, Wright, Meredith, Palmquist, Rachel, Lai, Khanh, Scala, Marcello, Striano, Pasquale, Iacomino, Michele, Zara, Federico, Cooper, Annina, Maarup, Timothy J., Byler, Melissa, Lebel, Robert Roger, Balci, Tugce B., Louie, Raymond, Lyons, Michael, Douglas, Jessica, Nowak, Catherine, Afenjar, Alexandra, Hoyer, Juliane, Keren, Boris, Maas, Saskia M., Motazacker, Mahdi M., Martinez-Agosto, Julian A., Rabani, Ahna M., McCormick, Elizabeth M., Falk, Marni J., Ruggiero, Sarah M., Helbig, Ingo, Møller, Rikke S., Tessarollo, Lino, Ardori, Francesco Tomassoni, Palko, Mary Ellen, Hsieh, Tzung Chien, Krawitz, Peter M., Ganapathi, Mythily, Gelb, Bruce D., Jobanputra, Vaidehi, Wilson, Ashley, Greally, John, Jacquemont, Sébastien, Jizi, Khadijé, Bruel, Ange Line, Quelin, Chloé, Misra, Vinod K., Chick, Erika, Romano, Corrado, Greco, Donatella, Arena, Alessia, Morleo, Manuela, Nigro, Vincenzo, Seyama, Rie, Uchiyama, Yuri, Matsumoto, Naomichi, Taira, Ryoji, Tashiro, Katsuya, Sakai, Yasunari, Yigit, Gökhan, Wollnik, Bernd, Wagner, Michael, Kutsche, Barbara, Hurst, Anna C.E., Thompson, Michelle L., Schmidt, Ryan, Randolph, Linda, Spillmann, Rebecca C., Shashi, Vandana, Higginbotham, Edward J., Cordeiro, Dawn, Carnevale, Amanda, Costain, Gregory, Khan, Tayyaba, Funalot, Benoît, Mau-Them, Frederic Tran, Garcia Moya, Luis Fernandez, García-Miñaúr, Sixto, Osmond, Matthew, Chad, Lauren, Quercia, Nada, Carrasco, Diana, Li, Chumei, Sanchez-Valle, Amarilis, Kelley, Meghan, Nizon, Mathilde, Jensson, Brynjar O., Sulem, Patrick, Stefansson, Kari, Gorokhova, Svetlana, Busa, Tiffany, Rio, Marlène, Habdallah, Hamza Hadj, Lesieur-Sebellin, Marion, Amiel, Jeanne, Pingault, Véronique, Mercier, Sandra, Vincent, Marie, Philippe, Christophe, Fatus-Fauconnier, Clemence, Friend, Kathryn, Halligan, Rebecca K., Biswas, Sunita, Rosser, Jane, Shoubridge, Cheryl, Corbett, Mark, Barnett, Christopher, Gecz, Jozef, Leppig, Kathleen, Slavotinek, Anne, Marcelis, Carlo, Pfundt, Rolph, de Vries, Bert B.A., van Slegtenhorst, Marjon A., Brooks, Alice S., Cogne, Benjamin, Rambaud, Thomas, Tümer, Zeynep, Zackai, Elaine H., Akizu, Naiara, Song, Yuanquan, Hakonarson, Hakon, Genetica, Genetica Sectie Research, Cancer, Child Health, Li, Dong, Wang, Qin, Bayat, Allan, Battig, Mark R., Zhou, Yijing, Bosch, Daniëlle G.M., van Haaften, Gijs, Granger, Leslie, Petersen, Andrea K., Pérez-Jurado, Luis A., Aznar-Laín, Gemma, Aneja, Anushree, Hancarova, Miroslava, Bendova, Sarka, Schwarz, Martin, Pourova, Radka Kremlikova, Sedlacek, Zdenek, Keena, Beth A., March, Michael E., Hou, Cuiping, O’Connor, Nora, Bhoj, Elizabeth J., Harr, Margaret H., Lemire, Gabrielle, Boycott, Kym M., Towne, Meghan, Li, Megan, Tarnopolsky, Mark, Brady, Lauren, Parker, Michael J., Faghfoury, Hanna, Parsley, Lea Kristin, Agolini, Emanuele, Dentici, Maria Lisa, Novelli, Antonio, Wright, Meredith, Palmquist, Rachel, Lai, Khanh, Scala, Marcello, Striano, Pasquale, Iacomino, Michele, Zara, Federico, Cooper, Annina, Maarup, Timothy J., Byler, Melissa, Lebel, Robert Roger, Balci, Tugce B., Louie, Raymond, Lyons, Michael, Douglas, Jessica, Nowak, Catherine, Afenjar, Alexandra, Hoyer, Juliane, Keren, Boris, Maas, Saskia M., Motazacker, Mahdi M., Martinez-Agosto, Julian A., Rabani, Ahna M., McCormick, Elizabeth M., Falk, Marni J., Ruggiero, Sarah M., Helbig, Ingo, Møller, Rikke S., Tessarollo, Lino, Ardori, Francesco Tomassoni, Palko, Mary Ellen, Hsieh, Tzung Chien, Krawitz, Peter M., Ganapathi, Mythily, Gelb, Bruce D., Jobanputra, Vaidehi, Wilson, Ashley, Greally, John, Jacquemont, Sébastien, Jizi, Khadijé, Bruel, Ange Line, Quelin, Chloé, Misra, Vinod K., Chick, Erika, Romano, Corrado, Greco, Donatella, Arena, Alessia, Morleo, Manuela, Nigro, Vincenzo, Seyama, Rie, Uchiyama, Yuri, Matsumoto, Naomichi, Taira, Ryoji, Tashiro, Katsuya, Sakai, Yasunari, Yigit, Gökhan, Wollnik, Bernd, Wagner, Michael, Kutsche, Barbara, Hurst, Anna C.E., Thompson, Michelle L., Schmidt, Ryan, Randolph, Linda, Spillmann, Rebecca C., Shashi, Vandana, Higginbotham, Edward J., Cordeiro, Dawn, Carnevale, Amanda, Costain, Gregory, Khan, Tayyaba, Funalot, Benoît, Mau-Them, Frederic Tran, Garcia Moya, Luis Fernandez, García-Miñaúr, Sixto, Osmond, Matthew, Chad, Lauren, Quercia, Nada, Carrasco, Diana, Li, Chumei, Sanchez-Valle, Amarilis, Kelley, Meghan, Nizon, Mathilde, Jensson, Brynjar O., Sulem, Patrick, Stefansson, Kari, Gorokhova, Svetlana, Busa, Tiffany, Rio, Marlène, Habdallah, Hamza Hadj, Lesieur-Sebellin, Marion, Amiel, Jeanne, Pingault, Véronique, Mercier, Sandra, Vincent, Marie, Philippe, Christophe, Fatus-Fauconnier, Clemence, Friend, Kathryn, Halligan, Rebecca K., Biswas, Sunita, Rosser, Jane, Shoubridge, Cheryl, Corbett, Mark, Barnett, Christopher, Gecz, Jozef, Leppig, Kathleen, Slavotinek, Anne, Marcelis, Carlo, Pfundt, Rolph, de Vries, Bert B.A., van Slegtenhorst, Marjon A., Brooks, Alice S., Cogne, Benjamin, Rambaud, Thomas, Tümer, Zeynep, Zackai, Elaine H., Akizu, Naiara, Song, Yuanquan, and Hakonarson, Hakon
Published: 2024

15. The detection of a strong episignature for Chung-Jansen syndrome, partially overlapping with Börjeson-Forssman-Lehmann and White-Kernohan syndromes

Author: Genetica Klinische Genetica, Cancer, Child Health, Vos, Niels, Haghshenas, Sadegheh, van der Laan, Liselot, Russel, Perle K M, Rooney, Kathleen, Levy, Michael A, Relator, Raissa, Kerkhof, Jennifer, McConkey, Haley, Maas, Saskia M, Vissers, Lisenka E L M, de Vries, Bert B A, Pfundt, Rolph, Elting, Mariet W, van Hagen, Johanna M, Verbeek, Nienke E, Jongmans, Marjolijn C J, Lakeman, Phillis, Rumping, Lynne, Bosch, Danielle G M, Vitobello, Antonio, Thauvin-Robinet, Christel, Faivre, Laurence, Nambot, Sophie, Garde, Aurore, Willems, Marjolaine, Genevieve, David, Nicolas, Gaël, Busa, Tiffany, Toutain, Annick, Gérard, Marion, Bizaoui, Varoona, Isidor, Bertrand, Merla, Giuseppe, Accadia, Maria, Schwartz, Charles E, Ounap, Katrin, Hoffer, Mariëtte J V, Nezarati, Marjan M, van den Boogaard, Marie-José H, Tedder, Matthew L, Rogers, Curtis, Brusco, Alfredo, Ferrero, Giovanni B, Spodenkiewicz, Marta, Sidlow, Richard, Mussa, Alessandro, Trajkova, Slavica, McCann, Emma, Mroczkowski, Henry J, Jansen, Sandra, Donker-Kaat, Laura, Duijkers, Floor A M, Stuurman, Kyra E, Mannens, Marcel M A M, Alders, Mariëlle, Henneman, Peter, White, Susan M, Sadikovic, Bekim, van Haelst, Mieke M, Genetica Klinische Genetica, Cancer, Child Health, Vos, Niels, Haghshenas, Sadegheh, van der Laan, Liselot, Russel, Perle K M, Rooney, Kathleen, Levy, Michael A, Relator, Raissa, Kerkhof, Jennifer, McConkey, Haley, Maas, Saskia M, Vissers, Lisenka E L M, de Vries, Bert B A, Pfundt, Rolph, Elting, Mariet W, van Hagen, Johanna M, Verbeek, Nienke E, Jongmans, Marjolijn C J, Lakeman, Phillis, Rumping, Lynne, Bosch, Danielle G M, Vitobello, Antonio, Thauvin-Robinet, Christel, Faivre, Laurence, Nambot, Sophie, Garde, Aurore, Willems, Marjolaine, Genevieve, David, Nicolas, Gaël, Busa, Tiffany, Toutain, Annick, Gérard, Marion, Bizaoui, Varoona, Isidor, Bertrand, Merla, Giuseppe, Accadia, Maria, Schwartz, Charles E, Ounap, Katrin, Hoffer, Mariëtte J V, Nezarati, Marjan M, van den Boogaard, Marie-José H, Tedder, Matthew L, Rogers, Curtis, Brusco, Alfredo, Ferrero, Giovanni B, Spodenkiewicz, Marta, Sidlow, Richard, Mussa, Alessandro, Trajkova, Slavica, McCann, Emma, Mroczkowski, Henry J, Jansen, Sandra, Donker-Kaat, Laura, Duijkers, Floor A M, Stuurman, Kyra E, Mannens, Marcel M A M, Alders, Mariëlle, Henneman, Peter, White, Susan M, Sadikovic, Bekim, and van Haelst, Mieke M
Published: 2024

16. Spliceosome malfunction causes neurodevelopmental disorders with overlapping features

Author: Li, Dong, Wang, Qin, Bayat, Allan, Battig, Mark R., Zhou, Yijing, Bosch, Daniëlle G.M., van Haaften, Gijs, Granger, Leslie, Petersen, Andrea K., Pérez-Jurado, Luis A., Aznar-Laín, Gemma, Aneja, Anushree, Hancarova, Miroslava, Bendova, Sarka, Schwarz, Martin, Pourova, Radka Kremlikova, Sedlacek, Zdenek, Keena, Beth A., March, Michael E., Hou, Cuiping, O’Connor, Nora, Bhoj, Elizabeth J., Harr, Margaret H., Lemire, Gabrielle, Boycott, Kym M., Towne, Meghan, Li, Megan, Tarnopolsky, Mark, Brady, Lauren, Parker, Michael J., Faghfoury, Hanna, Parsley, Lea Kristin, Agolini, Emanuele, Dentici, Maria Lisa, Novelli, Antonio, Wright, Meredith, Palmquist, Rachel, Lai, Khanh, Scala, Marcello, Striano, Pasquale, Iacomino, Michele, Zara, Federico, Cooper, Annina, Maarup, Timothy J., Byler, Melissa, Lebel, Robert Roger, Balci, Tugce B., Louie, Raymond, Lyons, Michael, Douglas, Jessica, Nowak, Catherine, Afenjar, Alexandra, Hoyer, Juliane, Keren, Boris, Maas, Saskia M., Motazacker, Mahdi M., Martinez-Agosto, Julian A., Rabani, Ahna M., McCormick, Elizabeth M., Falk, Marni J., Ruggiero, Sarah M., Helbig, Ingo, Møller, Rikke S., Tessarollo, Lino, Ardori, Francesco Tomassoni, Palko, Mary Ellen, Hsieh, Tzung Chien, Krawitz, Peter M., Ganapathi, Mythily, Gelb, Bruce D., Jobanputra, Vaidehi, Wilson, Ashley, Greally, John, Jacquemont, Sébastien, Jizi, Khadijé, Bruel, Ange Line, Quelin, Chloé, Misra, Vinod K., Chick, Erika, Romano, Corrado, Greco, Donatella, Arena, Alessia, Morleo, Manuela, Nigro, Vincenzo, Seyama, Rie, Uchiyama, Yuri, Matsumoto, Naomichi, Taira, Ryoji, Tashiro, Katsuya, Sakai, Yasunari, Yigit, Gökhan, Wollnik, Bernd, Wagner, Michael, Kutsche, Barbara, Hurst, Anna C.E., Thompson, Michelle L., Schmidt, Ryan, Randolph, Linda, Spillmann, Rebecca C., Shashi, Vandana, Higginbotham, Edward J., Cordeiro, Dawn, Carnevale, Amanda, Costain, Gregory, Khan, Tayyaba, Funalot, Benoît, Mau-Them, Frederic Tran, Garcia Moya, Luis Fernandez, García-Miñaúr, Sixto, Osmond, Matthew, Chad, Lauren, Quercia, Nada, Carrasco, Diana, Li, Chumei, Sanchez-Valle, Amarilis, Kelley, Meghan, Nizon, Mathilde, Jensson, Brynjar O., Sulem, Patrick, Stefansson, Kari, Gorokhova, Svetlana, Busa, Tiffany, Rio, Marlène, Habdallah, Hamza Hadj, Lesieur-Sebellin, Marion, Amiel, Jeanne, Pingault, Véronique, Mercier, Sandra, Vincent, Marie, Philippe, Christophe, Fatus-Fauconnier, Clemence, Friend, Kathryn, Halligan, Rebecca K., Biswas, Sunita, Rosser, Jane, Shoubridge, Cheryl, Corbett, Mark, Barnett, Christopher, Gecz, Jozef, Leppig, Kathleen, Slavotinek, Anne, Marcelis, Carlo, Pfundt, Rolph, de Vries, Bert B.A., van Slegtenhorst, Marjon A., Brooks, Alice S., Cogne, Benjamin, Rambaud, Thomas, Tümer, Zeynep, Zackai, Elaine H., Akizu, Naiara, Song, Yuanquan, Hakonarson, Hakon, Li, Dong, Wang, Qin, Bayat, Allan, Battig, Mark R., Zhou, Yijing, Bosch, Daniëlle G.M., van Haaften, Gijs, Granger, Leslie, Petersen, Andrea K., Pérez-Jurado, Luis A., Aznar-Laín, Gemma, Aneja, Anushree, Hancarova, Miroslava, Bendova, Sarka, Schwarz, Martin, Pourova, Radka Kremlikova, Sedlacek, Zdenek, Keena, Beth A., March, Michael E., Hou, Cuiping, O’Connor, Nora, Bhoj, Elizabeth J., Harr, Margaret H., Lemire, Gabrielle, Boycott, Kym M., Towne, Meghan, Li, Megan, Tarnopolsky, Mark, Brady, Lauren, Parker, Michael J., Faghfoury, Hanna, Parsley, Lea Kristin, Agolini, Emanuele, Dentici, Maria Lisa, Novelli, Antonio, Wright, Meredith, Palmquist, Rachel, Lai, Khanh, Scala, Marcello, Striano, Pasquale, Iacomino, Michele, Zara, Federico, Cooper, Annina, Maarup, Timothy J., Byler, Melissa, Lebel, Robert Roger, Balci, Tugce B., Louie, Raymond, Lyons, Michael, Douglas, Jessica, Nowak, Catherine, Afenjar, Alexandra, Hoyer, Juliane, Keren, Boris, Maas, Saskia M., Motazacker, Mahdi M., Martinez-Agosto, Julian A., Rabani, Ahna M., McCormick, Elizabeth M., Falk, Marni J., Ruggiero, Sarah M., Helbig, Ingo, Møller, Rikke S., Tessarollo, Lino, Ardori, Francesco Tomassoni, Palko, Mary Ellen, Hsieh, Tzung Chien, Krawitz, Peter M., Ganapathi, Mythily, Gelb, Bruce D., Jobanputra, Vaidehi, Wilson, Ashley, Greally, John, Jacquemont, Sébastien, Jizi, Khadijé, Bruel, Ange Line, Quelin, Chloé, Misra, Vinod K., Chick, Erika, Romano, Corrado, Greco, Donatella, Arena, Alessia, Morleo, Manuela, Nigro, Vincenzo, Seyama, Rie, Uchiyama, Yuri, Matsumoto, Naomichi, Taira, Ryoji, Tashiro, Katsuya, Sakai, Yasunari, Yigit, Gökhan, Wollnik, Bernd, Wagner, Michael, Kutsche, Barbara, Hurst, Anna C.E., Thompson, Michelle L., Schmidt, Ryan, Randolph, Linda, Spillmann, Rebecca C., Shashi, Vandana, Higginbotham, Edward J., Cordeiro, Dawn, Carnevale, Amanda, Costain, Gregory, Khan, Tayyaba, Funalot, Benoît, Mau-Them, Frederic Tran, Garcia Moya, Luis Fernandez, García-Miñaúr, Sixto, Osmond, Matthew, Chad, Lauren, Quercia, Nada, Carrasco, Diana, Li, Chumei, Sanchez-Valle, Amarilis, Kelley, Meghan, Nizon, Mathilde, Jensson, Brynjar O., Sulem, Patrick, Stefansson, Kari, Gorokhova, Svetlana, Busa, Tiffany, Rio, Marlène, Habdallah, Hamza Hadj, Lesieur-Sebellin, Marion, Amiel, Jeanne, Pingault, Véronique, Mercier, Sandra, Vincent, Marie, Philippe, Christophe, Fatus-Fauconnier, Clemence, Friend, Kathryn, Halligan, Rebecca K., Biswas, Sunita, Rosser, Jane, Shoubridge, Cheryl, Corbett, Mark, Barnett, Christopher, Gecz, Jozef, Leppig, Kathleen, Slavotinek, Anne, Marcelis, Carlo, Pfundt, Rolph, de Vries, Bert B.A., van Slegtenhorst, Marjon A., Brooks, Alice S., Cogne, Benjamin, Rambaud, Thomas, Tümer, Zeynep, Zackai, Elaine H., Akizu, Naiara, Song, Yuanquan, and Hakonarson, Hakon
Abstract: Pre-mRNA splicing is a highly coordinated process. While its dysregulation has been linked to neurological deficits, our understanding of the underlying molecular and cellular mechanisms remains limited. We implicated pathogenic variants in U2AF2 and PRPF19, encoding spliceosome subunits in neurodevelopmental disorders (NDDs), by identifying 46 unrelated individuals with 23 de novo U2AF2 missense variants (including 7 recurrent variants in 30 individuals) and 6 individuals with de novo PRPF19 variants. Eight U2AF2 variants dysregulated splicing of a model substrate. Neuritogenesis was reduced in human neurons differentiated from human pluripotent stem cells carrying two U2AF2 hyper-recurrent variants. Neural loss of function (LoF) of the Drosophila orthologs U2af50 and Prp19 led to lethality, abnormal mushroom body (MB) patterning, and social deficits, which were differentially rescued by wild-type and mutant U2AF2 or PRPF19. Transcriptome profiling revealed splicing substrates or effectors (including Rbfox1, a third splicing factor), which rescued MB defects in U2af50deficient flies. Upon reanalysis of negative clinical exomes followed by data sharing, we further identified 6 patients with NDD who carried RBFOX1 missense variants which, by in vitro testing, showed LoF. Our study implicates 3 splicing factors as NDD-causative genes and establishes a genetic network with hierarchy underlying human brain development and function.
Published: 2024

17. Cardiovascular and connective tissue disorder features in FLNA-related PVNH patients: progress towards a refined delineation of this syndrome

Author: Billon, Clarisse, Adham, Salma, Hernandez Poblete, Natalia, Legrand, Anne, Frank, Michael, Chiche, Laurent, Zuily, Stephane, Benistan, Karelle, Savale, Laurent, Zaafrane-Khachnaoui, Khaoula, Brehin, Anne-Claire, Bal, Laurence, Busa, Tiffany, Fradin, Mélanie, Quelin, Chloé, Chesneau, Bertrand, Wahl, Denis, Fergelot, Patricia, Goizet, Cyril, Mirault, Tristan, Jeunemaitre, Xavier, and Albuisson, Juliette
Published: 2021
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18. Developmental trajectories of neuroanatomical alterations associated with the 16p11.2 Copy Number Variations

Author: Addor, Marie-Claude, Andrieux, Joris, Arveiler, Benoît, Baujatm, Geneviève, Sloan-Bénan, Frédérique, Belfiore, Marco, Bonneau, Dominique, Bouquillon, Sonia, Boute, Odile, Brusco, Alfredo, Busa, Tiffany, Caberg, Jean-Hubert, Campion, Dominique, Colombert, Vanessa, Cordier, Marie-Pierre, David, Albert, Debray, François-Guillaume, Delrue, Marie-Ange, Doco-Fenzy, Martine, Dunkhase-Heinl, Ulrike, Edery, Patrick, Fagerberg, Christina, Faivre, Laurence, Forzano, Francesca, Genevieve, David, Gérard, Marion, Giachino, Daniela, Guichet, Agnès, Guillin, Olivier, Héron, Delphine, Isidor, Bertrand, Jacquette, Aurélia, Jaillard, Sylvie, Journel, Hubert, Keren, Boris, Lacombe, Didier, Lebon, Sébastien, Le Caignec, Cédric, Lemaître, Marie-Pierre, Lespinasse, James, Mathieu-Dramart, Michèle, Mercier, Sandra, Mignot, Cyril, Missirian, Chantal, Petit, Florence, Pilekær Sørensen, Kristina, Pinson, Lucile, Plessis, Ghislaine, Prieur, Fabienne, Rooryck-Thambo, Caroline, Rossi, Massimiliano, Sanlaville, Damien, Schlott Kristiansen, Britta, Schluth-Bolard, Caroline, Till, Marianne, Van Haelst, Mieke, Van Maldergem, Lionel, Cárdenas-de-la-Parra, Alonso, Martin-Brevet, Sandra, Moreau, Clara, Rodriguez-Herreros, Borja, Fonov, Vladimir S., Maillard, Anne M., Zürcher, Nicole R., Hadjikhani, Nouchine, Beckmann, Jacques S., Reymond, Alexandre, Draganski, Bogdan, Jacquemont, Sébastien, and Collins, D. Louis
Published: 2019
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19. Spliceosome malfunction causes neurodevelopmental disorders with overlapping features

Author: Li, Dong, primary, Wang, Qin, additional, Bayat, Allan, additional, Battig, Mark R., additional, Zhou, Yijing, additional, Bosch, Daniëlle G.M., additional, van Haaften, Gijs, additional, Granger, Leslie, additional, Petersen, Andrea K., additional, Pérez-Jurado, Luis A., additional, Aznar-Laín, Gemma, additional, Aneja, Anushree, additional, Hancarova, Miroslava, additional, Bendova, Sarka, additional, Schwarz, Martin, additional, Kremlíková Pourová, Radka, additional, Sedlacek, Zdenek, additional, Keena, Beth A., additional, March, Michael E., additional, Hou, Cuiping, additional, O'Connor, Nora, additional, Bhoj, Elizabeth J., additional, Harr, Margaret H., additional, Lemire, Gabrielle, additional, Boycott, Kym M., additional, Towne, Meghan C., additional, Li, Megan, additional, Tarnopolsky, Mark, additional, Brady, Lauren, additional, Parker, Michael J., additional, Faghfoury, Hanna, additional, Parsley, Lea Kristin, additional, Agolini, Emanuele, additional, Dentici, Maria Lisa, additional, Novelli, Antonio, additional, Wright, Meredith S., additional, Palmquist, Rachel, additional, Lai, Khanh, additional, Scala, Marcello, additional, Striano, Pasquale, additional, Iacomino, Michele, additional, Zara, Federico, additional, Cooper, Annina, additional, Maarup, Timothy J., additional, Byler, Melissa, additional, Lebel, Robert Roger, additional, Balci, Tugce B., additional, Louie, Raymond J., additional, Lyons, Michael J., additional, Douglas, Jessica, additional, Nowak, Catherine B., additional, Afenjar, Alexandra, additional, Hoyer, Juliane, additional, Keren, Boris, additional, Maas, Saskia M., additional, Motazacker, Mahdi M., additional, Martinez-Agosto, Julian A., additional, Rabani, Ahna M., additional, McCormick, Elizabeth M., additional, Falk, Marni, additional, Ruggiero, Sarah M., additional, Helbig, Ingo, additional, Møller, Rikke S., additional, Tessarollo, Lino, additional, Tomassoni-Ardori, Francesco, additional, Palko, Mary Ellen, additional, Hsieh, Tzung-Chien, additional, Krawitz, Peter M., additional, Ganapathi, Mythily, additional, Gelb, Bruce D., additional, Jobanputra, Vaidehi, additional, Wilson, Ashley, additional, Greally, John, additional, Jacquemont, Sébastien, additional, Jizi, Khadijé, additional, Ange-Line, Bruel, additional, Quelin, Chloé, additional, Misra, Vinod K., additional, Chick, Erika, additional, Romano, Corrado, additional, Greco, Donatella, additional, Arena, Alessia, additional, Morleo, Manuela, additional, Nigro, Vincenzo, additional, Seyama, Rie, additional, Uchiyama, Yuri, additional, Matsumoto, Naomichi, additional, Taira, Ryoji, additional, Tashiro, Katsuya, additional, Sakai, Yasunari, additional, Yigit, Gökhan, additional, Wollnik, Bernd, additional, Wagner, Michael, additional, Kutsche, Barbara, additional, Hurst, Anna C.E., additional, Thompson, Michelle L., additional, Schmidt, Ryan J., additional, Randolph, Linda M., additional, Spillmann, Rebecca C., additional, Shashi, Vandana, additional, Higginbotham, Edward J., additional, Cordeiro, Dawn, additional, Carnevale, Amanda, additional, Costain, Gregory, additional, Khan, Tayyaba, additional, Funalot, Benoît, additional, Tran Mau-Them, Frederic, additional, Fernandez Garcia Moya, Luis, additional, García-Miñaúr, Sixto, additional, Osmond, Matthew, additional, Chad, Lauren, additional, Quercia, Nada, additional, Carrasco, Diana, additional, Li, Chumei, additional, Sanchez-Valle, Amarilis, additional, Kelley, Meghan, additional, Nizon, Mathilde, additional, Jensson, Brynjar O., additional, Sulem, Patrick, additional, Stefansson, Kari, additional, Gorokhova, Svetlana, additional, Busa, Tiffany, additional, Rio, Marlène, additional, Hadj Abdallah, Hamza, additional, Lesieur-Sebellin, Marion, additional, Amiel, Jeanne, additional, Pingault, Véronique, additional, Mercier, Sandra, additional, Vincent, Marie, additional, Philippe, Christophe, additional, Fatus-Fauconnier, Clemence, additional, Friend, Kathryn, additional, Halligan, Rebecca K., additional, Biswas, Sunita, additional, Rosser, Jane M.R., additional, Shoubridge, Cheryl, additional, Corbett, Mark A., additional, Barnett, Christopher, additional, Gecz, Jozef, additional, Leppig, Kathleen A., additional, Slavotinek, Anne, additional, Marcelis, Carlo, additional, Pfundt, Rolph, additional, de Vries, Bert B.A., additional, van Slegtenhorst, Marjon A., additional, Brooks, Alice S., additional, Cogne, Benjamin, additional, Rambaud, Thomas, additional, Tümer, Zeynep, additional, Zackai, Elaine H., additional, Akizu, Naiara, additional, Song, Yuanquan, additional, and Hakonarson, Hakon, additional
Published: 2023
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20. Prenatal versus Postnatal Diagnosis of 22q11.2 Deletion Syndrome: Cardiac and Non-Cardiac Outcomes through 1 Year of Age

Author: Freud, Lindsay R., primary, Galloway, Stephanie, additional, Crowley, T. Blaine, additional, Moldenhauer, Julie, additional, Swillen, Ann, additional, Breckpot, Jeroen, additional, Borrell, Antoni, additional, Vora, Neeta L., additional, Cuneo, Bettina, additional, Hoffman, Hilary, additional, Gilbert, Lisa, additional, Nowakowska, Beata, additional, Geremek, Maciej, additional, Kutkowska-Kaźmierczak, Anna, additional, Vermeesch, Joris R., additional, Devriendt, Koen, additional, Busa, Tiffany, additional, Sigaudy, Sabine, additional, Vigneswaran, Trisha, additional, Simpson, John M., additional, Dungan, Jeffrey, additional, Gotteiner, Nina, additional, Gloning, Karl-Philipp, additional, Digilio, Maria Cristina, additional, Unolt, Marta, additional, Putotto, Carolina, additional, Marino, Bruno, additional, Repetto, Gabriela, additional, Fadic, Magdalena, additional, Garcia-Minaur, Sixto, additional, Buil, Ana Achón, additional, Thomas, Mary Ann, additional, Fruitman, Deborah, additional, Beecroft, Taylor, additional, Hui, Pui Wah, additional, Oskarsdottir, Solveig, additional, Bradshaw, Rachael, additional, Criebaum, Amanda, additional, Norton, Mary E., additional, Lee, Tiffany, additional, Geiger, Miwa, additional, Dunnington, Leslie, additional, Isaac, Jacqueline, additional, Wilkins-Haug, Louise, additional, Hunter, Lindsey, additional, Izzi, Claudia, additional, Toscano, Marika, additional, Ghi, Tullio, additional, McGlynn, Julie, additional, Grati, Francesca Romana, additional, Emanuel, Beverly S., additional, Gaiser, Kimberly, additional, Gaynor, J. William, additional, Goldmuntz, Elizabeth, additional, McGinn, Daniel E., additional, Schindewolf, Erica, additional, Tran, Oanh, additional, Zackai, Elaine H., additional, Yan, Qi, additional, Bassett, Anne, additional, Wapner, Ronald, additional, and McDonald-McGinn, Donna M., additional
Published: 2023
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21. Quantifying the Effects of 16p11.2 Copy Number Variants on Brain Structure: A Multisite Genetic-First Study

Author: Addor, Marie-Claude, Andrieux, Joris, Arveiler, Benoît, Baujat, Geneviève, Sloan-Béna, Frédérique, Belfiore, Marco, Bonneau, Dominique, Bouquillon, Sonia, Boute, Odile, Brusco, Alfredo, Busa, Tiffany, Caberg, Jean-Hubert, Campion, Dominique, Colombert, Vanessa, Cordier, Marie-Pierre, David, Albert, Debray, François-Guillaume, Delrue, Marie-Ange, Doco-Fenzy, Martine, Dunkhase-Heinl, Ulrike, Edery, Patrick, Fagerberg, Christina, Faivre, Laurence, Forzano, Francesca, Genevieve, David, Gérard, Marion, Giachino, Daniela, Guichet, Agnès, Guillin, Olivier, Héron, Delphine, Isidor, Bertrand, Jacquette, Aurélia, Jaillard, Sylvie, Journel, Hubert, Keren, Boris, Lacombe, Didier, Lebon, Sébastien, Le Caignec, Cédric, Lemaître, Marie-Pierre, Lespinasse, James, Mathieu-Dramart, Michèle, Mercier, Sandra, Mignot, Cyril, Missirian, Chantal, Petit, Florence, Pilekær Sørensen, Kristina, Pinson, Lucile, Plessis, Ghislaine, Prieur, Fabienne, Rooryck-Thambo, Caroline, Rossi, Massimiliano, Sanlaville, Damien, Schlott Kristiansen, Britta, Schluth-Bolard, Caroline, Till, Marianne, Van Haelst, Mieke, Van Maldergem, Lionel, Alupay, Hanalore, Aaronson, Benjamin, Ackerman, Sean, Ankenman, Katy, Anwar, Ayesha, Atwell, Constance, Bowe, Alexandra, Beaudet, Arthur L., Benedetti, Marta, Berg, Jessica, Berman, Jeffrey, Berry, Leandra N., Bibb, Audrey L., Blaskey, Lisa, Brennan, Jonathan, Brewton, Christie M., Buckner, Randy, Bukshpun, Polina, Burko, Jordan, Cali, Phil, Cerban, Bettina, Chang, Yishin, Cheong, Maxwell, Chow, Vivian, Chu, Zili, Chudnovskaya, Darina, Cornew, Lauren, Dale, Corby, Dell, John, Dempsey, Allison G., Deschamps, Trent, Earl, Rachel, Edgar, James, Elgin, Jenna, Olson, Jennifer Endre, Evans, Yolanda L., Findlay, Anne, Fischbach, Gerald D., Fisk, Charlie, Fregeau, Brieana, Gaetz, Bill, Gaetz, Leah, Garza, Silvia, Gerdts, Jennifer, Glenn, Orit, Gobuty, Sarah E., Golembski, Rachel, Greenup, Marion, Heiken, Kory, Hines, Katherine, Hinkley, Leighton, Jackson, Frank I., Jenkins, Julian, III, Jeremy, Rita J., Johnson, Kelly, Kanne, Stephen M., Kessler, Sudha, Khan, Sarah Y., Ku, Matthew, Kuschner, Emily, Laakman, Anna L., Lam, Peter, Lasala, Morgan W., Lee, Hana, LaGuerre, Kevin, Levy, Susan, Cavanagh, Alyss Lian, Llorens, Ashlie V., Campe, Katherine Loftus, Luks, Tracy L., Marco, Elysa J., Martin, Stephen, Martin, Alastair J., Marzano, Gabriela, Masson, Christina, McGovern, Kathleen E., McNally Keehn, Rebecca, Miller, David T., Miller, Fiona K., Moss, Timothy J., Murray, Rebecca, Nagarajan, Srikantan S., Nowell, Kerri P., Owen, Julia, Paal, Andrea M., Packer, Alan, Page, Patricia Z., Paul, Brianna M., Peters, Alana, Peterson, Danica, Poduri, Annapurna, Pojman, Nicholas J., Porche, Ken, Proud, Monica B., Qasmieh, Saba, Ramocki, Melissa B., Reilly, Beau, Roberts, Timothy P.L., Shaw, Dennis, Sinha, Tuhin, Smith-Packard, Bethanny, Gallagher, Anne Snow, Swarnakar, Vivek, Thieu, Tony, Triantafallou, Christina, Vaughan, Roger, Wakahiro, Mari, Wallace, Arianne, Ward, Tracey, Wenegrat, Julia, Wolken, Anne, Martin-Brevet, Sandra, Rodríguez-Herreros, Borja, Nielsen, Jared A., Moreau, Clara, Modenato, Claudia, Maillard, Anne M., Pain, Aurélie, Richetin, Sonia, Jønch, Aia E., Qureshi, Abid Y., Zürcher, Nicole R., Conus, Philippe, Chung, Wendy K., Sherr, Elliott H., Spiro, John E., Kherif, Ferath, Beckmann, Jacques S., Hadjikhani, Nouchine, Reymond, Alexandre, Buckner, Randy L., Draganski, Bogdan, and Jacquemont, Sébastien
Published: 2018
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22. Genetic diversity and pathogenic variants as possible predictors of severity in a French sample of nonsyndromic heritable thoracic aortic aneurysms and dissections (nshTAAD)

Author: Arnaud, Pauline, Hanna, Nadine, Benarroch, Louise, Aubart, Mélodie, Bal, Laurence, Bouvagnet, Patrice, Busa, Tiffany, Dulac, Yves, Dupuis-Girod, Sophie, Edouard, Thomas, Faivre, Laurence, Gouya, Laurent, Lacombe, Didier, Langeois, Maud, Leheup, Bruno, Milleron, Olivier, Naudion, Sophie, Odent, Sylvie, Tchitchinadze, Maria, Ropers, Jacques, Jondeau, Guillaume, and Boileau, Catherine
Published: 2019
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23. The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature

Author: Piard, Juliette, Hawkes, Lara, Milh, Mathieu, Villard, Laurent, Borgatti, Renato, Romaniello, Romina, Fradin, Melanie, Capri, Yline, Héron, Delphine, Nougues, Marie-Christine, Nava, Caroline, Arsene, Oana Tarta, Shears, Debbie, Taylor, John, Pagnamenta, Alistair, Taylor, Jenny C, Sogawa, Yoshimi, Johnson, Diana, Firth, Helen, Vasudevan, Pradeep, Jones, Gabriela, Nguyen-Morel, Marie-Ange, Busa, Tiffany, Roubertie, Agathe, van den Born, Myrthe, Brischoux-Boucher, Elise, Koenig, Michel, Mignot, Cyril, DDD Study, Kini, Usha, and Philippe, Christophe
Published: 2019
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24. In Marfan Syndrome and Related Diseases, STABILISE Technique Should Be Used with Care: Results from a Volumetric Comparative Study of Endovascular Treatment for Aortic Dissection

Author: Azogui, Ron, primary, Porto, Alizee, additional, Castelli, Maxime, additional, Omnes, Virgile, additional, De Masi, Mariangela, additional, Bartoli, Michel, additional, Piquet, Philippe, additional, Gariboldi, Vlad, additional, Busa, Tiffany, additional, Jacquier, Alexis, additional, Bal, Laurence, additional, and Gaudry, Marine, additional
Published: 2023
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25. Germline AGO2 mutations impair RNA interference and human neurological development

Author: Lessel, Davor, Zeitler, Daniela M., Reijnders, Margot R. F., Kazantsev, Andriy, Hassani Nia, Fatemeh, Bartholomäus, Alexander, Martens, Victoria, Bruckmann, Astrid, Graus, Veronika, McConkie-Rosell, Allyn, McDonald, Marie, Lozic, Bernarda, Tan, Ee-Shien, Gerkes, Erica, Johannsen, Jessika, Denecke, Jonas, Telegrafi, Aida, Zonneveld-Huijssoon, Evelien, Lemmink, Henny H., Cham, Breana W. M., Kovacevic, Tanja, Ramsdell, Linda, Foss, Kimberly, Le Duc, Diana, Mitter, Diana, Syrbe, Steffen, Merkenschlager, Andreas, Sinnema, Margje, Panis, Bianca, Lazier, Joanna, Osmond, Matthew, Hartley, Taila, Mortreux, Jeremie, Busa, Tiffany, Missirian, Chantal, Prasun, Pankaj, Lüttgen, Sabine, Mannucci, Ilaria, Lessel, Ivana, Schob, Claudia, Kindler, Stefan, Pappas, John, Rabin, Rachel, Willemsen, Marjolein, Gardeitchik, Thatjana, Löhner, Katharina, Rump, Patrick, Dias, Kerith-Rae, Evans, Carey-Anne, Andrews, Peter Ian, Roscioli, Tony, Brunner, Han G., Chijiwa, Chieko, Lewis, M. E. Suzanne, Jamra, Rami Abou, Dyment, David A., Boycott, Kym M., Stegmann, Alexander P. A., Kubisch, Christian, Tan, Ene-Choo, Mirzaa, Ghayda M., McWalter, Kirsty, Kleefstra, Tjitske, Pfundt, Rolph, Ignatova, Zoya, Meister, Gunter, and Kreienkamp, Hans-Jürgen
Published: 2020
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26. Regulatory variants of FOXG1 in the context of its topological domain organisation

Author: Mehrjouy, Mana M, Fonseca, Ana Carolina S., Ehmke, Nadja, Paskulin, Giorgio, Novelli, Antonio, Benedicenti, Francesco, Mencarelli, Maria Antonietta, Renieri, Alessandra, Busa, Tiffany, Missirian, Chantal, Hansen, Claus, Abe, Kikue Terada, Speck-Martins, Carlos Eduardo, Vianna-Morgante, Angela M., Bak, Mads, and Tommerup, Niels
Published: 2018
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27. CHARGE syndrome: a recurrent hotspot of mutations in CHD7 IVS25 analyzed by bioinformatic tools and minigene assays

Author: Legendre, Marine, Rodriguez - Ballesteros, Montserrat, Rossi, Massimiliano, Abadie, Véronique, Amiel, Jeanne, Revencu, Nicole, Blanchet, Patricia, Brioude, Frédéric, Delrue, Marie-Ange, Doubaj, Yassamine, Sefiani, Abdelaziz, Francannet, Christine, Holder-Espinasse, Muriel, Jouk, Pierre-Simon, Julia, Sophie, Melki, Judith, Mur, Sébastien, Naudion, Sophie, Fabre-Teste, Jennifer, Busa, Tiffany, Stamm, Stephen, Lyonnet, Stanislas, Attie-Bitach, Tania, Kitzis, Alain, Gilbert-Dussardier, Brigitte, and Bilan, Frédéric
Published: 2018
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28. The role of CNVs in the etiology of rare autosomal recessive disorders: the example of TRAPPC9-associated intellectual disability

Author: Mortreux, Jérémie, Busa, Tiffany, Germain, Dominique P., Nadeau, Gwenaël, Puechberty, Jacques, Coubes, Christine, Gatinois, Vincent, Cacciagli, Pierre, Duffourd, Yannis, Pinard, Jean-Marc, Tevissen, Hélène, Villard, Laurent, Sanlaville, Damien, Philip, Nicole, and Missirian, Chantal
Published: 2018
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29. A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

Author: Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group) [research center], Denommé-Pichon, Anne-Sophie, Matalonga, Leslie, de Boer, Elke, Jackson, Adam, Benetti, Elisa, Banka, Siddharth, Bruel, Ange-Line, Ciolfi, Andrea, Clayton-Smith, Jill, Dallapiccola, Bruno, Duffourd, Yannis, Ellwanger, Kornelia, Fallerini, Chiara, Gilissen, Christian, Graessner, Holm, Haack, Tobias B., Havlovicova, Marketa, Hoischen, Alexander, Jean-Marçais, Nolwenn, Kleefstra, Tjitske, López-Martín, Estrella, Macek, Milan, Mencarelli, Maria Antonietta, Moutton, Sébastien, Pfundt, Rolph, Pizzi, Simone, Posada, Manuel, Radio, Francesca Clementina, Renieri, Alessandra, Rooryck, Caroline, Ryba, Lukas, Safraou, Hana, Schwarz, Martin, Tartaglia, Marco, Thauvin-Robinet, Christel, Thevenon, Julien, Tran Mau-Them, Frédéric, Trimouille, Aurélien, Votypka, Pavel, de Vries, Bert B. A., Willemsen, Marjolein H., Zurek, Birte, Verloes, Alain, Philippe, Christophe, Abbott, Kristin M., Faivre, Laurence, Kerstjens, Mieke, Martín, Estrella López, Macek Jr., Milan, Maystadt, Isabelle, Morleo, Manuela, Nigro, Vicenzo, Pinelli, Michele, Radio, Francesca C., Riess, Olaf, Agathe, Jean-Madeleine De Sainte, Santen, Gijs W. E., Thauvin, Christel, Torella, Annalaura, Vissers, Lisenka, Vitobello, Antonio, Zguro, Kristina, Boer, Elke De, Cohen, Enzo, Danis, Daniel, Gao, Fei, Horvath, Rita, Johari, Mridul, Johanson, Lennart, Li, Shuang, Morsy, Heba, Nelson, Isabelle, Paramonov, Ida, te Paske, Iris B. A. W., Robinson, Peter, Savarese, Marco, Steyaert, Wouter, Töpf, Ana, van der Velde, Joeri K., Vandrovcova, Jana, Ossowski, Stephan, Demidov, German, Sturm, Marc, Schulze-Hentrich, Julia M., Schüle, Rebecca, Xu, Jishu, Kessler, Christoph, Wayand, Melanie, Synofzik, Matthis, Wilke, Carlo, Traschütz, Andreas, Schöls, Ludger, Hengel, Holger, Lerche, Holger, Kegele, Josua, Heutink, Peter, Brunner, Han, Scheffer, Hans, Hoogerbrugge, Nicoline, `t Hoen, Peter A. C., Vissers, Lisenka E. L. M., Sablauskas, Karolis, de Voer, Richarda M., Kamsteeg, Erik-Jan, van de Warrenburg, Bart, van Os, Nienke, Paske, Iris Te, Janssen, Erik, Steehouwer, Marloes, Yaldiz, Burcu, Brookes, Anthony J., Veal, Colin, Gibson, Spencer, Maddi, Vatsalya, Mehtarizadeh, Mehdi, Riaz, Umar, Warren, Greg, Dizjikan, Farid Yavari, Shorter, Thomas, Straub, Volker, Bettolo, Chiara Marini, Manera, Jordi Diaz, Hambleton, Sophie, Engelhardt, Karin, Alexander, Elizabeth, Peyron, Christine, Pélissier, Aurore, Beltran, Sergi, Gut, Ivo Glynne, Laurie, Steven, Piscia, Davide, Papakonstantinou, Anastasios, Bullich, Gemma, Corvo, Alberto, Fernandez-Callejo, Marcos, Hernández, Carles, Picó, Daniel, Lochmüller, Hanns, Gumus, Gulcin, Bros-Facer, Virginie, Rath, Ana, Hanauer, Marc, Lagorce, David, Hongnat, Oscar, Chahdil, Maroua, Lebreton, Emeline, Stevanin, Giovanni, Durr, Alexandra, Davoine, Claire-Sophie, Guillot-Noel, Léna, Heinzmann, Anna, Coarelli, Giulia, Bonne, Gisèle, Evangelista, Teresinha, Allamand, Valérie, Ben Yaou, Rabah, Metay, Corinne, Eymard, Bruno, Atalaia, Antonio, Stojkovic, Tanya, Turnovec, Marek, Thomasová, Dana, Kremliková, Radka Pourová, Franková, Vera, Havlovicová, Markéta, Li\vsková, Petra, Dole\vzalová, Pavla, Parkinson, Helen, Keane, Thomas, Freeberg, Mallory, Thomas, Coline, Spalding, Dylan, Robert, Glenn, Costa, Alessia, Patch, Christine, Hanna, Mike, Houlden, Henry, Reilly, Mary, Efthymiou, Stephanie, Cali, Elisa, Magrinelli, Francesca, Sisodiya, Sanjay M., Rohrer, Jonathan, Muntoni, Francesco, Zaharieva, Irina, Sarkozy, Anna, Timmerman, Vincent, Baets, Jonathan, de Vries, Geert, De Winter, Jonathan, Beijer, Danique, de Jonghe, Peter, Van de Vondel, Liedewei, De Ridder, Willem, Weckhuysen, Sarah, Nigro, Vincenzo, Mutarelli, Margherita, Varavallo, Alessandra, Banfi, Sandro, Musacchia, Francesco, Piluso, Giulio, Ferlini, Alessandra, Selvatici, Rita, Gualandi, Francesca, Bigoni, Stefania, Rossi, Rachele, Neri, Marcella, Aretz, Stefan, Spier, Isabel, Sommer, Anna Katharina, Peters, Sophia, Oliveira, Carla, Pelaez, Jose Garcia, Matos, Ana Rita, José, Celina São, Ferreira, Marta, Gullo, Irene, Fernandes, Susana, Garrido, Luzia, Ferreira, Pedro, Carneiro, Fátima, Swertz, Morris A., Johansson, Lennart, van der Vries, Gerben, Neerincx, Pieter B., Ruvolo, David, Kerstjens Frederikse, Wilhemina S., Zonneveld-Huijssoon, Eveline, Roelofs-Prins, Dieuwke, van Gijn, Marielle, Köhler, Sebastian, Metcalfe, Alison, Drunat, Séverine, Heron, Delphine, Mignot, Cyril, Keren, Boris, Lacombe, Didier, Trimouille, Aurelien, Capella, Gabriel, Valle, Laura, Holinski-Feder, Elke, Laner, Andreas, Steinke-Lange, Verena, Cilio, Maria-Roberta, Carpancea, Evelina, Depondt, Chantal, Lederer, Damien, Sznajer, Yves, Duerinckx, Sarah, Mary, Sandrine, Macaya, Alfons, Cazurro-Gutiérrez, Ana, Pérez-Dueñas, Belén, Munell, Francina, Jarava, Clara Franco, Masó, Laura Batlle, Marcé-Grau, Anna, Colobran, Roger, Hackman, Peter, Udd, Bjarne, Hemelsoet, Dimitri, Dermaut, Bart, Schuermans, Nika, Poppe, Bruce, Verdin, Hannah, Osorio, Andrés Nascimento, Depienne, Christel, Roos, Andreas, Cordts, Isabell, Deschauer, Marcus, Striano, Pasquale, Zara, Federico, Riva, Antonella, Iacomino, Michele, Uva, Paolo, Scala, Marcello, Scudieri, Paolo, Claeys, Kristl, Boztug, Kaan, Haimel, Matthias, W.E, Gijs, Ruivenkamp, Claudia A. L., Natera de Benito, Daniel, Thompson, Rachel, Polavarapu, Kiran, Grimbacher, Bodo, Zaganas, Ioannis, Kokosali, Evgenia, Lambros, Mathioudakis, Evangeliou, Athanasios, Spilioti, Martha, Kapaki, Elisabeth, Bourbouli, Mara, Balicza, Peter, Molnar, Maria Judit, De la Paz, Manuel Posada, Sánchez, Eva Bermejo, Delgado, Beatriz Martínez, Alonso García de la Rosa, F. 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Schneider Group) [research center], Denommé-Pichon, Anne-Sophie, Matalonga, Leslie, de Boer, Elke, Jackson, Adam, Benetti, Elisa, Banka, Siddharth, Bruel, Ange-Line, Ciolfi, Andrea, Clayton-Smith, Jill, Dallapiccola, Bruno, Duffourd, Yannis, Ellwanger, Kornelia, Fallerini, Chiara, Gilissen, Christian, Graessner, Holm, Haack, Tobias B., Havlovicova, Marketa, Hoischen, Alexander, Jean-Marçais, Nolwenn, Kleefstra, Tjitske, López-Martín, Estrella, Macek, Milan, Mencarelli, Maria Antonietta, Moutton, Sébastien, Pfundt, Rolph, Pizzi, Simone, Posada, Manuel, Radio, Francesca Clementina, Renieri, Alessandra, Rooryck, Caroline, Ryba, Lukas, Safraou, Hana, Schwarz, Martin, Tartaglia, Marco, Thauvin-Robinet, Christel, Thevenon, Julien, Tran Mau-Them, Frédéric, Trimouille, Aurélien, Votypka, Pavel, de Vries, Bert B. A., Willemsen, Marjolein H., Zurek, Birte, Verloes, Alain, Philippe, Christophe, Abbott, Kristin M., Faivre, Laurence, Kerstjens, Mieke, Martín, Estrella López, Macek Jr., Milan, Maystadt, Isabelle, Morleo, Manuela, Nigro, Vicenzo, Pinelli, Michele, Radio, Francesca C., Riess, Olaf, Agathe, Jean-Madeleine De Sainte, Santen, Gijs W. E., Thauvin, Christel, Torella, Annalaura, Vissers, Lisenka, Vitobello, Antonio, Zguro, Kristina, Boer, Elke De, Cohen, Enzo, Danis, Daniel, Gao, Fei, Horvath, Rita, Johari, Mridul, Johanson, Lennart, Li, Shuang, Morsy, Heba, Nelson, Isabelle, Paramonov, Ida, te Paske, Iris B. A. W., Robinson, Peter, Savarese, Marco, Steyaert, Wouter, Töpf, Ana, van der Velde, Joeri K., Vandrovcova, Jana, Ossowski, Stephan, Demidov, German, Sturm, Marc, Schulze-Hentrich, Julia M., Schüle, Rebecca, Xu, Jishu, Kessler, Christoph, Wayand, Melanie, Synofzik, Matthis, Wilke, Carlo, Traschütz, Andreas, Schöls, Ludger, Hengel, Holger, Lerche, Holger, Kegele, Josua, Heutink, Peter, Brunner, Han, Scheffer, Hans, Hoogerbrugge, Nicoline, `t Hoen, Peter A. C., Vissers, Lisenka E. L. M., Sablauskas, Karolis, de Voer, Richarda M., Kamsteeg, Erik-Jan, van de Warrenburg, Bart, van Os, Nienke, Paske, Iris Te, Janssen, Erik, Steehouwer, Marloes, Yaldiz, Burcu, Brookes, Anthony J., Veal, Colin, Gibson, Spencer, Maddi, Vatsalya, Mehtarizadeh, Mehdi, Riaz, Umar, Warren, Greg, Dizjikan, Farid Yavari, Shorter, Thomas, Straub, Volker, Bettolo, Chiara Marini, Manera, Jordi Diaz, Hambleton, Sophie, Engelhardt, Karin, Alexander, Elizabeth, Peyron, Christine, Pélissier, Aurore, Beltran, Sergi, Gut, Ivo Glynne, Laurie, Steven, Piscia, Davide, Papakonstantinou, Anastasios, Bullich, Gemma, Corvo, Alberto, Fernandez-Callejo, Marcos, Hernández, Carles, Picó, Daniel, Lochmüller, Hanns, Gumus, Gulcin, Bros-Facer, Virginie, Rath, Ana, Hanauer, Marc, Lagorce, David, Hongnat, Oscar, Chahdil, Maroua, Lebreton, Emeline, Stevanin, Giovanni, Durr, Alexandra, Davoine, Claire-Sophie, Guillot-Noel, Léna, Heinzmann, Anna, Coarelli, Giulia, Bonne, Gisèle, Evangelista, Teresinha, Allamand, Valérie, Ben Yaou, Rabah, Metay, Corinne, Eymard, Bruno, Atalaia, Antonio, Stojkovic, Tanya, Turnovec, Marek, Thomasová, Dana, Kremliková, Radka Pourová, Franková, Vera, Havlovicová, Markéta, Li\vsková, Petra, Dole\vzalová, Pavla, Parkinson, Helen, Keane, Thomas, Freeberg, Mallory, Thomas, Coline, Spalding, Dylan, Robert, Glenn, Costa, Alessia, Patch, Christine, Hanna, Mike, Houlden, Henry, Reilly, Mary, Efthymiou, Stephanie, Cali, Elisa, Magrinelli, Francesca, Sisodiya, Sanjay M., Rohrer, Jonathan, Muntoni, Francesco, Zaharieva, Irina, Sarkozy, Anna, Timmerman, Vincent, Baets, Jonathan, de Vries, Geert, De Winter, Jonathan, Beijer, Danique, de Jonghe, Peter, Van de Vondel, Liedewei, De Ridder, Willem, Weckhuysen, Sarah, Nigro, Vincenzo, Mutarelli, Margherita, Varavallo, Alessandra, Banfi, Sandro, Musacchia, Francesco, Piluso, Giulio, Ferlini, Alessandra, Selvatici, Rita, Gualandi, Francesca, Bigoni, Stefania, Rossi, Rachele, Neri, Marcella, Aretz, Stefan, Spier, Isabel, Sommer, Anna Katharina, Peters, Sophia, Oliveira, Carla, Pelaez, Jose Garcia, Matos, Ana Rita, José, Celina São, Ferreira, Marta, Gullo, Irene, Fernandes, Susana, Garrido, Luzia, Ferreira, Pedro, Carneiro, Fátima, Swertz, Morris A., Johansson, Lennart, van der Vries, Gerben, Neerincx, Pieter B., Ruvolo, David, Kerstjens Frederikse, Wilhemina S., Zonneveld-Huijssoon, Eveline, Roelofs-Prins, Dieuwke, van Gijn, Marielle, Köhler, Sebastian, Metcalfe, Alison, Drunat, Séverine, Heron, Delphine, Mignot, Cyril, Keren, Boris, Lacombe, Didier, Trimouille, Aurelien, Capella, Gabriel, Valle, Laura, Holinski-Feder, Elke, Laner, Andreas, Steinke-Lange, Verena, Cilio, Maria-Roberta, Carpancea, Evelina, Depondt, Chantal, Lederer, Damien, Sznajer, Yves, Duerinckx, Sarah, Mary, Sandrine, Macaya, Alfons, Cazurro-Gutiérrez, Ana, Pérez-Dueñas, Belén, Munell, Francina, Jarava, Clara Franco, Masó, Laura Batlle, Marcé-Grau, Anna, Colobran, Roger, Hackman, Peter, Udd, Bjarne, Hemelsoet, Dimitri, Dermaut, Bart, Schuermans, Nika, Poppe, Bruce, Verdin, Hannah, Osorio, Andrés Nascimento, Depienne, Christel, Roos, Andreas, Cordts, Isabell, Deschauer, Marcus, Striano, Pasquale, Zara, Federico, Riva, Antonella, Iacomino, Michele, Uva, Paolo, Scala, Marcello, Scudieri, Paolo, Claeys, Kristl, Boztug, Kaan, Haimel, Matthias, W.E, Gijs, Ruivenkamp, Claudia A. L., Natera de Benito, Daniel, Thompson, Rachel, Polavarapu, Kiran, Grimbacher, Bodo, Zaganas, Ioannis, Kokosali, Evgenia, Lambros, Mathioudakis, Evangeliou, Athanasios, Spilioti, Martha, Kapaki, Elisabeth, Bourbouli, Mara, Balicza, Peter, Molnar, Maria Judit, De la Paz, Manuel Posada, Sánchez, Eva Bermejo, Delgado, Beatriz Martínez, Alonso García de la Rosa, F. Javier, Schröck, Evelin, Rump, Andreas, Mei, Davide, Vetro, Annalisa, Balestrini, Simona, Guerrini, Renzo, Chinnery, Patrick F., Ratnaike, Thiloka, Schon, Katherine, Maver, Ales, Peterlin, Borut, Münchau, Alexander, Lohmann, Katja, Herzog, Rebecca, Pauly, Martje, May, Patrick, Beeson, David, Cossins, Judith, Furini, Simone, Afenjar, Alexandra, Goldenberg, Alice, Masurel, Alice, Phan, Alice, Dieux-Coeslier, Anne, Fargeot, Anne, Guerrot, Anne-Marie, Toutain, Annick, Molin, Arnaud, Sorlin, Arthur, Putoux, Audrey, Jouret, Béatrice, Laudier, Béatrice, Demeer, Bénédicte, Doray, Bérénice, Bonniaud, Bertille, Isidor, Bertrand, Gilbert-Dussardier, Brigitte, Leheup, Bruno, Reversade, Bruno, Paul, Carle, Vincent-Delorme, Catherine, Neiva, Cecilia, Poirsier, Céline, Quélin, Chloé, Chiaverini, Christine, Coubes, Christine, Francannet, Christine, Colson, Cindy, Desplantes, Claire, Wells, Constance, Goizet, Cyril, Sanlaville, Damien, Amram, Daniel, Lehalle, Daphné, Geneviève, David, Gaillard, Dominique, Zivi, Einat, Sarrazin, Elisabeth, Steichen, Elisabeth, Schaefer, Élise, Lacaze, Elodie, Jacquemin, Emmanuel, Bongers, Ernie, Kilic, Esra, Colin, Estelle, Giuliano, Fabienne, Prieur, Fabienne, Laffargue, Fanny, Morice-Picard, Fanny, Petit, Florence, Cartault, François, Feillet, François, Baujat, Geneviève, Morin, Gilles, Diene, Gwenaëlle, Journel, Hubert, Perthus, Isabelle, Lespinasse, James, Alessandri, Jean-Luc, Amiel, Jeanne, Martinovic, Jelena, Delanne, Julian, Albuisson, Juliette, Lambert, Laëtitia, Perrin, Laurence, Ousager, Lilian Bomme, Van Maldergem, Lionel, Pinson, Lucile, Ruaud, Lyse, Samimi, Mahtab, Bournez, Marie, Bonnet-Dupeyron, Marie Noëlle, Vincent, Marie, Jacquemont, Marie-Line, Cordier-Alex, Marie-Pierre, Gérard-Blanluet, Marion, Willems, Marjolaine, Spodenkiewicz, Marta, Doco-Fenzy, Martine, Rossi, Massimiliano, Renaud, Mathilde, Fradin, Mélanie, Mathieu, Michèle, Holder-Espinasse, Muriel H., Houcinat, Nada, Hanna, Nadine, Leperrier, Nathalie, Chassaing, Nicolas, Philip, Nicole, Boute, Odile, Van Kien, Philippe Khau, Parent, Philippe, Bitoun, Pierre, Sarda, Pierre, Vabres, Pierre, Jouk, Pierre-Simon, Touraine, Renaud, El Chehadeh, Salima, Whalen, Sandra, Marlin, Sandrine, Passemard, Sandrine, Grotto, Sarah, Bellanger, Séverine Audebert, Blesson, Sophie, Nambot, Sophie, Naudion, Sophie, Lyonnet, Stanislas, Odent, Sylvie, Attie-Bitach, Tania, Busa, Tiffany, Drouin-Garraud, Valérie, Layet, Valérie, Bizaoui, Varoona, Cusin, Véronica, Capri, Yline, and Alembik, Yves
Abstract: Purpose Within the Solve-RD project (https://solve-rd.eu/), the European Reference Network for Intellectual disability, TeleHealth, Autism and Congenital Anomalies aimed to investigate whether a reanalysis of exomes from unsolved cases based on ClinVar annotations could establish additional diagnoses. We present the results of the “ClinVar low-hanging fruit” reanalysis, reasons for the failure of previous analyses, and lessons learned. Methods Data from the first 3576 exomes (1522 probands and 2054 relatives) collected from European Reference Network for Intellectual disability, TeleHealth, Autism and Congenital Anomalies was reanalyzed by the Solve-RD consortium by evaluating for the presence of single-nucleotide variant, and small insertions and deletions already reported as (likely) pathogenic in ClinVar. Variants were filtered according to frequency, genotype, and mode of inheritance and reinterpreted. Results We identified causal variants in 59 cases (3.9%), 50 of them also raised by other approaches and 9 leading to new diagnoses, highlighting interpretation challenges: variants in genes not known to be involved in human disease at the time of the first analysis, misleading genotypes, or variants undetected by local pipelines (variants in off-target regions, low quality filters, low allelic balance, or high frequency). Conclusion The “ClinVar low-hanging fruit” analysis represents an effective, fast, and easy approach to recover causal variants from exome sequencing data, herewith contributing to the reduction of the diagnostic deadlock.
Published: 2023

30. Esophageal atresia with tracheoesophageal fistula in a patient with 7q35–36.3 deletion including SHH gene

Author: Busa, Tiffany, Panait, Nicoleta, Chaumoitre, Kathia, Philip, Nicole, and Missirian, Chantal
Published: 2016
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31. Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort

Author: van der Sluijs, Pleuntje J., primary, Joosten, Marieke, additional, Alby, Caroline, additional, Attié-Bitach, Tania, additional, Gilmore, Kelly, additional, Dubourg, Christele, additional, Fradin, Mélanie, additional, Wang, Tianyun, additional, Kurtz-Nelson, Evangeline C., additional, Ahlers, Kaitlyn P., additional, Arts, Peer, additional, Barnett, Christopher P., additional, Ashfaq, Myla, additional, Baban, Anwar, additional, van den Born, Myrthe, additional, Borrie, Sarah, additional, Busa, Tiffany, additional, Byrne, Alicia, additional, Carriero, Miriam, additional, Cesario, Claudia, additional, Chong, Karen, additional, Cueto-González, Anna Maria, additional, Dempsey, Jennifer C., additional, Diderich, Karin E.M., additional, Doherty, Dan, additional, Farholt, Stense, additional, Gerkes, Erica H., additional, Gorokhova, Svetlana, additional, Govaerts, Lutgarde C.P., additional, Gregersen, Pernille A., additional, Hickey, Scott E., additional, Lefebvre, Mathilde, additional, Mari, Francesca, additional, Martinovic, Jelena, additional, Northrup, Hope, additional, O’Leary, Melanie, additional, Parbhoo, Kareesma, additional, Patrier, Sophie, additional, Popp, Bernt, additional, Santos-Simarro, Fernando, additional, Stoltenburg, Corinna, additional, Thauvin-Robinet, Christel, additional, Thompson, Elisabeth, additional, Vulto-van Silfhout, Anneke T., additional, Zahir, Farah R., additional, Scott, Hamish S., additional, Earl, Rachel K., additional, Eichler, Evan E., additional, Vora, Neeta L., additional, Wilnai, Yael, additional, Giordano, Jessica L., additional, Wapner, Ronald J., additional, Rosenfeld, Jill A., additional, Haak, Monique C., additional, and Santen, Gijs W.E., additional
Published: 2023
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32. New insights intoCC2D2A-related Joubert syndrome

Author: Harion, Madeleine, primary, Qebibo, Leila, additional, Riquet, Audrey, additional, Rougeot, Christelle, additional, Afenjar, Alexandra, additional, Garel, Catherine, additional, Louha, Malek, additional, Lacaze, Emmanuelle, additional, Audic-Gérard, Frédérique, additional, Barth, Magali, additional, Berquin, Patrick, additional, Bonneau, Dominique, additional, Bourdain, Frédéric, additional, Busa, Tiffany, additional, Colin, Estelle, additional, Cuisset, Jean-Marie, additional, Des Portes, Vincent, additional, Dorison, Nathalie, additional, Francannet, Christine, additional, Héron, Bénédicte, additional, Laroche, Cécile, additional, Lebrun, Marine, additional, Métreau, Julia, additional, Odent, Sylvie, additional, Pasquier, Laurent, additional, Trujillo, Yaumara Perdomo, additional, Perrin, Laurine, additional, Pinson, Lucile, additional, Rivier, François, additional, Sigaudy, Sabine, additional, Thauvin-Robinet, Christel, additional, Louvier, Ulrike Walther, additional, Labayle, Olivier, additional, Rodriguez, Diana, additional, Valence, Stéphanie, additional, and Burglen, Lydie, additional
Published: 2022
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33. Endovascular Management of Vascular Complications in Ehlers–Danlos Syndrome Type IV

Author: Alqahtani, Mubarak, primary, Claudinot, Amandine, additional, Gaudry, Marine, additional, Bartoli, Axel, additional, Barral, Pierre Antoine, additional, Vidal, Vincent, additional, Boyer, Louis, additional, Busa, Tiffany, additional, Cadour, Farah, additional, Jacquier, Alexis, additional, De Masi, Mariangela, additional, and Bal, Laurence, additional
Published: 2022
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34. Exome sequencing as a first-tier test for copy number variant detection: retrospective evaluation and prospective screening in 2418 cases

Author: Testard, Quentin, primary, Vanhoye, Xavier, additional, Yauy, Kevin, additional, Naud, Marie-Emmanuelle, additional, Vieville, Gaelle, additional, Rousseau, Francis, additional, Dauriat, Benjamin, additional, Marquet, Valentine, additional, Bourthoumieu, Sylvie, additional, Geneviève, David, additional, Gatinois, Vincent, additional, Wells, Constance, additional, Willems, Marjolaine, additional, Coubes, Christine, additional, Pinson, Lucile, additional, Dard, Rodolphe, additional, Tessier, Aude, additional, Hervé, Bérénice, additional, Vialard, François, additional, Harzallah, Ines, additional, Touraine, Renaud, additional, Cogné, Benjamin, additional, Deb, Wallid, additional, Besnard, Thomas, additional, Pichon, Olivier, additional, Laudier, Béatrice, additional, Mesnard, Laurent, additional, Doreille, Alice, additional, Busa, Tiffany, additional, Missirian, Chantal, additional, Satre, Véronique, additional, Coutton, Charles, additional, Celse, Tristan, additional, Harbuz, Radu, additional, Raymond, Laure, additional, Taly, Jean-François, additional, and Thevenon, Julien, additional
Published: 2022
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35. Autosomal recessive primary microcephaly due to ASPM mutations: An update

Author: Létard, Pascaline, Drunat, Séverine, Vial, Yoann, Duerinckx, Sarah, Ernault, Anais, Amram, Daniel, Arpin, Stéphanie, Bertoli, Marta, Busa, Tiffany, Ceulemans, Berten, Desir, Julie, Doco‐Fenzy, Martine, Elalaoui, Siham Chafai, Devriendt, Koenraad, Faivre, Laurence, Francannet, Christine, Geneviève, David, Gérard, Marion, Gitiaux, Cyril, Julia, Sophie, Lebon, Sébastien, Lubala, Toni, Mathieu‐Dramard, Michèle, Maurey, Hélène, Metreau, Julia, Nasserereddine, Sanaa, Nizon, Mathilde, Pierquin, Geneviève, Pouvreau, Nathalie, Rivier‐Ringenbach, Clothilde, Rossi, Massimiliano, Schaefer, Elise, Sefiani, Abdelaziz, Sigaudy, Sabine, Sznajer, Yves, Tunca, Yusuf, Guilmin Crepon, Sophie, Alberti, Corinne, Elmaleh‐Bergès, Monique, Benzacken, Brigitte, Wollnick, Bernd, Woods, C. Geoffrey, Rauch, Anita, Abramowicz, Marc, El Ghouzzi, Vincent, Gressens, Pierre, Verloes, Alain, and Passemard, Sandrine
Published: 2018
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36. Correction: Arterial tortuosity syndrome: 40 new families and literature review

Author: Beyens, Aude, Albuisson, Juliette, Boel, Annekatrien, Al-Essa, Mazen, Al-Manea, Waheed, Bonnet, Damien, Bostan, Ozlem, Boute, Odile, Busa, Tiffany, Canham, Nathalie, Cil, Ergun, Coucke, Paul J., Cousin, Margot A., Dasouki, Majed, De Backer, Julie, De Paepe, Anne, De Schepper, Sofie, De Silva, Deepthi, Devriendt, Koenraad, De Wandele, Inge, Deyle, David R., Dietz, Harry, Dupuis-Girod, Sophie, Fontenot, Eudice, Fischer-Zirnsak, Björn, Gezdirici, Alper, Ghoumid, Jamal, Giuliano, Fabienne, Baena, Neus, Haider, Mohammed Z., Hardin, Joshua S., Jeunemaitre, Xavier, Klee, Eric W., Kornak, Uwe, Landecho, Manuel F., Legrand, Anne, Loeys, Bart, Lyonnet, Stanislas, Michael, Helen, Moceri, Pamela, Mohammed, Shehla, Muiño-Mosquera, Laura, Nampoothiri, Sheela, Pichler, Karin, Prescott, Katrina, Rajeb, Anna, Ramos-Arroyo, Maria, Rossi, Massimiliano, Salih, Mustafa, Seidahmed, Mohammed Z., Schaefer, Elise, Steichen-Gersdorf, Elisabeth, Temel, Sehime, Uysal, Fahrettin, Vanhomwegen, Marine, Van Laer, Lut, Van Maldergem, Lionel, Warner, David, Willaert, Andy, Collins II, Tom R., Taylor, Andrea, Davis, Elaine C., Zarate, Yuri, and Callewaert, Bert
Published: 2019
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37. Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome

Author: Legendre, Marine, Abadie, Véronique, Attié‐Bitach, Tania, Philip, Nicole, Busa, Tiffany, Bonneau, Dominique, Colin, Estelle, Dollfus, Hélène, Lacombe, Didier, Toutain, Annick, Blesson, Sophie, Julia, Sophie, Martin‐Coignard, Dominique, Geneviève, David, Leheup, Bruno, Odent, Sylvie, Jouk, Pierre‐Simon, Mercier, Sandra, Faivre, Laurence, Vincent‐Delorme, Catherine, Francannet, Christine, Naudion, Sophie, Mathieu‐Dramard, Michèle, Delrue, Marie‐Ange, Goldenberg, Alice, Héron, Delphine, Parent, Philippe, Touraine, Renaud, Layet, Valérie, Sanlaville, Damien, Quélin, Chloé, Moutton, Sébastien, Fradin, Mélanie, Jacquette, Aurélia, Sigaudy, Sabine, Pinson, Lucile, Sarda, Pierre, Guerrot, Anne‐Marie, Rossi, Massimiliano, Masurel‐Paulet, Alice, El Chehadeh, Salima, Piguel, Xavier, Rodriguez‐Ballesteros, Montserrat, Ragot, Stéphanie, Lyonnet, Stanislas, Bilan, Frédéric, and Gilbert‐Dussardier, Brigitte
Published: 2017
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38. New insights into CC2D2A-related Joubertsyndrome.

Author: Harion, Madeleine, Qebibo, Leila, Riquet, Audrey, Rougeot, Christelle, Afenjar, Alexandra, Garel, Catherine, Louha, Malek, Lacaze, Emmanuelle, Audic-Gérard, Frédérique, Barth, Magali, Berquin, Patrick, Bonneau, Dominique, Bourdain, Frédéric, Busa, Tiffany, Colin, Estelle, Cuisset, Jean-Marie, Portes, Vincent Des, Dorison, Nathalie, Francannet, Christine, and Héron, Bénédicte
Abstract: Purpose: In this study, we describe the phenotype and genotype of the largest cohort of patients with Joubert syndrome (JS) carrying pathogenic variants on one of the most frequent causative genes, CC2D2A. Methods: We selected 53 patients with pathogenic variants on CC2D2A, compiled and analysed their clinical, neuroimaging and genetic information and compared it to previous literature. Results: Developmental delay (motor and language) was nearly constant but patients had normal intellectual efficiency in 74% of cases (20/27 patients) and 68% followed mainstream schooling despite learning difficulties. Epilepsy was found in only 13% of cases. Only three patients had kidney cysts, only three had genuine retinal dystrophy and no subject had liver fibrosis or polydactyly. Brain MRIs showed typical signs of JS with rare additional features. Genotype-phenotype correlation findings demonstrate a homozygous truncating variant p.Arg950* linked to a more severe phenotype. Conclusion: This study contradicts previous literature stating an association between CC2D2A-related JS and ventriculomegaly. Our study implies that CC2D2A-related JS is linked to positive neurodevelopmental outcome and low rate of other organ defects except for homozygous pathogenic variant p.Arg950*. This information will help modulate patient follow-up and provide families with accurate genetic counselling. [ABSTRACT FROM AUTHOR]
Published: 2023
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39. A French multicenter study of over 700 patients with 22q11 deletions diagnosed using FISH or aCGH

Author: Poirsier, Céline, Besseau-Ayasse, Justine, Schluth-Bolard, Caroline, Toutain, Jérôme, Missirian, Chantal, Le Caignec, Cédric, Bazin, Anne, de Blois, Marie Christine, Kuentz, Paul, Catty, Marie, Choiset, Agnès, Plessis, Ghislaine, Basinko, Audrey, Letard, Pascaline, Flori, Elisabeth, Jimenez, Mélanie, Valduga, Mylène, Landais, Emilie, Lallaoui, Hakima, Cartault, François, Lespinasse, James, Martin-Coignard, Dominique, Callier, Patrick, Pebrel-Richard, Céline, Portnoi, Marie-France, Busa, Tiffany, Receveur, Aline, Amblard, Florence, Yardin, Catherine, Harbuz, Radu, Prieur, Fabienne, Le Meur, Nathalie, Pipiras, Eva, Kleinfinger, Pascale, Vialard, François, and Doco-Fenzy, Martine
Published: 2016
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40. Endovascular treatment of aortic dissections in patients presenting a syndrome of Marfan or a related disease: Results of a comparative study

Author: Gaudry, Marine, primary, Azogui, Ron, additional, Castelli, Maxime, additional, Bartoli, Michel, additional, Omnes, Virgile, additional, Demasi, Mariangela, additional, Jacquier, Alexis, additional, Piquet, Philippe, additional, Gariboldi, Vlad, additional, Busa, Tiffany, additional, and Bal, Laurence, additional
Published: 2022
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41. Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort

Author: van der Sluijs, Pleuntje J., primary, Joosten, Marieke, additional, Alby, Caroline, additional, Attié-Bitach, Tania, additional, Gilmore, Kelly, additional, Dubourg, Christele, additional, Fradin, Mélanie, additional, Wang, Tianyun, additional, Kurtz-Nelson, Evangeline C., additional, Ahlers, Kaitlyn P., additional, Arts, Peer, additional, Barnett, Christopher P., additional, Ashfaq, Myla, additional, Baban, Anwar, additional, van den Born, Myrthe, additional, Borrie, Sarah, additional, Busa, Tiffany, additional, Byrne, Alicia, additional, Carriero, Miriam, additional, Cesario, Claudia, additional, Chong, Karen, additional, Cueto-González, Anna Maria, additional, Dempsey, Jennifer C., additional, Diderich, Karin E.M., additional, Doherty, Dan, additional, Farholt, Stense, additional, Gerkes, Erica H., additional, Gorokhova, Svetlana, additional, Govaerts, Lutgarde C.P., additional, Gregersen, Pernille A., additional, Hickey, Scott E., additional, Lefebvre, Mathilde, additional, Mari, Francesca, additional, Martinovic, Jelena, additional, Northrup, Hope, additional, O’Leary, Melanie, additional, Parbhoo, Kareesma, additional, Patrier, Sophie, additional, Popp, Bernt, additional, Santos-Simarro, Fernando, additional, Stoltenburg, Corinna, additional, Thauvin-Robinet, Christel, additional, Thompson, Elisabeth, additional, Vulto-van Silfhout, Anneke T., additional, Zahir, Farah R., additional, Scott, Hamish S., additional, Earl, Rachel K., additional, Eichler, Evan E., additional, Vora, Neeta L., additional, Wilnai, Yael, additional, Giordano, Jessica L., additional, Wapner, Ronald J., additional, Rosenfeld, Jill A., additional, Haak, Monique C., additional, and Santen, Gijs W.E., additional
Published: 2022
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42. Novel Exon-Skipping Therapeutic Approach for the DMD Gene Based on Asymptomatic Deletions of Exon 49

Author: Abaji, Mario, primary, Gorokhova, Svetlana, additional, Da Silva, Nathalie, additional, Busa, Tiffany, additional, Grelet, Maude, additional, Missirian, Chantal, additional, Sigaudy, Sabine, additional, Philip, Nicole, additional, Leturcq, France, additional, Lévy, Nicolas, additional, Krahn, Martin, additional, and Bartoli, Marc, additional
Published: 2022
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43. Confirmation that RIPK4 mutations cause not only Bartsocas‐Papas syndrome but also CHAND syndrome

Author: Busa, Tiffany, Jeraiby, Mohammed, Clémenson, Alix, Manouvrier, Sylvie, Granados, Viviana, Philip, Nicole, and Touraine, Renaud
Published: 2017
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44. FOXC1 haploinsufficiency due to 6p25 deletion in a patient with rapidly progressing aortic valve disease

Author: Ovaert, Caroline, Busa, Tiffany, Faure, Emilie, Missirian, Chantal, Philip, Nicole, Paoli, Florent, Milh, Mathieu, Macé, Loic, and Zaffran, Stephane
Published: 2017
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45. Large in-frame intragenic deletion of OPHN1 in a male patient with a normal intelligence quotient score

Author: Busa, Tiffany, Caietta, Emilie, Chabrol, Brigitte, Girard, Nadine, Philip, Nicole, and Missirian, Chantal
Published: 2017
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46. First evidence ofSOX2mutations in Peters' anomaly: Lessons from molecular screening of 95 patients

Author: Chesneau, Bertrand, primary, Aubert‐Mucca, Marion, additional, Fremont, Félix, additional, Pechmeja, Jacmine, additional, Soler, Vincent, additional, Isidor, Bertrand, additional, Nizon, Mathilde, additional, Dollfus, Hélène, additional, Kaplan, Josseline, additional, Fares‐Taie, Lucas, additional, Rozet, Jean‐Michel, additional, Busa, Tiffany, additional, Lacombe, Didier, additional, Naudion, Sophie, additional, Amiel, Jeanne, additional, Rio, Marlène, additional, Attie‐Bitach, Tania, additional, Lesage, Cécile, additional, Thouvenin, Dominique, additional, Odent, Sylvie, additional, Morel, Godelieve, additional, Vincent‐Delorme, Catherine, additional, Boute, Odile, additional, Vanlerberghe, Clémence, additional, Dieux, Anne, additional, Boussion, Simon, additional, Faivre, Laurence, additional, Pinson, Lucile, additional, Laffargue, Fanny, additional, Le Guyader, Gwenaël, additional, Le Meur, Guylène, additional, Prieur, Fabienne, additional, Lambert, Victor, additional, Laudier, Beatrice, additional, Cottereau, Edouard, additional, Ayuso, Carmen, additional, Corton‐Pérez, Marta, additional, Bouneau, Laurence, additional, Le Caignec, Cédric, additional, Gaston, Véronique, additional, Jeanton‐Scaramouche, Claire, additional, Dupin‐Deguine, Delphine, additional, Calvas, Patrick, additional, Chassaing, Nicolas, additional, and Plaisancié, Julie, additional
Published: 2022
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47. Neurodevelopmental phenotype in 36 new patients with 8p inverted duplication–deletion: Genotype–phenotype correlation for anomalies of the corpus callosum

Author: Vibert, Roseline, primary, Mignot, Cyril, additional, Keren, Boris, additional, Chantot‐Bastaraud, Sandra, additional, Portnoï, Marie‐France, additional, Nouguès, Marie‐Christine, additional, Moutard, Marie‐Laure, additional, Faudet, Anne, additional, Whalen, Sandra, additional, Haye, Damien, additional, Garel, Catherine, additional, Chatron, Nicolas, additional, Rossi, Massimiliano, additional, Vincent‐Delorme, Catherine, additional, Boute, Odile, additional, Delobel, Bruno, additional, Andrieux, Joris, additional, Devillard, Françoise, additional, Coutton, Charles, additional, Puechberty, Jacques, additional, Pebrel‐Richard, Céline, additional, Colson, Cindy, additional, Gerard, Marion, additional, Missirian, Chantal, additional, Sigaudy, Sabine, additional, Busa, Tiffany, additional, Doco‐Fenzy, Martine, additional, Malan, Valérie, additional, Rio, Marlène, additional, Doray, Bérénice, additional, Sanlaville, Damien, additional, Siffroi, Jean‐Pierre, additional, Héron, Delphine, additional, and Heide, Solveig, additional
Published: 2021
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48. Natural history of NF1 c.2970_2972del p.(Met992del): confirmation of a low risk of complications in a longitudinal study

Author: Forde, Claire, primary, Burkitt-Wright, Emma, additional, Turnpenny, Peter D., additional, Haan, Eric, additional, Ealing, John, additional, Mansour, Sahar, additional, Holder, Muriel, additional, Lahiri, Nayana, additional, Dixit, Abhijit, additional, Procter, Annie, additional, Pacot, Laurence, additional, Vidaud, Dominique, additional, Capri, Yline, additional, Gerard, Marion, additional, Dollfus, Hélène, additional, Schaefer, Elise, additional, Quelin, Chloé, additional, Sigaudy, Sabine, additional, Busa, Tiffany, additional, Vera, Gabriella, additional, Damaj, Lena, additional, Messiaen, Ludwine, additional, Stevenson, David A., additional, Davies, Peter, additional, Palmer-Smith, Sheila, additional, Callaway, Alison, additional, Wolkenstein, Pierre, additional, Pasmant, Eric, additional, and Upadhyaya, Meena, additional
Published: 2021
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49. Accelerated genome sequencing with controlled costs for infants in intensive care units: a feasibility study in a French hospital network

Author: Denommé-Pichon, Anne-Sophie, primary, Vitobello, Antonio, additional, Olaso, Robert, additional, Ziegler, Alban, additional, Jeanne, Médéric, additional, Tran Mau-Them, Frédéric, additional, Couturier, Victor, additional, Racine, Caroline, additional, Isidor, Bertrand, additional, Poë, Charlotte, additional, Jouan, Thibaud, additional, Boland, Anne, additional, Fin, Bertrand, additional, Bacq-Daian, Delphine, additional, Besse, Céline, additional, Garde, Aurore, additional, Prost, Adeline, additional, Garret, Philippine, additional, Tisserant, Émilie, additional, Delanne, Julian, additional, Nambot, Sophie, additional, Juven, Aurélien, additional, Gorce, Magali, additional, Nizon, Mathilde, additional, Vincent, Marie, additional, Moutton, Sébastien, additional, Fradin, Mélanie, additional, Lavillaureix, Alinoë, additional, Rollier, Paul, additional, Capri, Yline, additional, Van-Gils, Julien, additional, Busa, Tiffany, additional, Sigaudy, Sabine, additional, Pasquier, Laurent, additional, Barth, Magalie, additional, Bruel, Ange-Line, additional, Flamant, Cyril, additional, Prouteau, Clément, additional, Bonneau, Dominique, additional, Toutain, Annick, additional, Chantegret, Corinne, additional, Callier, Patrick, additional, Philippe, Christophe, additional, Duffourd, Yannis, additional, Deleuze, Jean-François, additional, Sorlin, Arthur, additional, Faivre, Laurence, additional, and Thauvin-Robinet, Christel, additional
Published: 2021
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50. Mono‐allelic loss ofYTHDF3and neurodevelopmental disorder: clinical features of four individuals with 8q12.3 deletions

Author: Terkelsen, Thorkild, primary, Brasch‐Andersen, Charlotte, additional, Illum, Niels, additional, Busa, Tiffany, additional, Missirian, Chantal, additional, Chandler, Kate, additional, Holden, Simon T., additional, Jensen, Uffe Birk, additional, and Fagerberg, Christina R., additional
Published: 2021
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