Clinical interpretation of variants identified in RNU4ATAC, a non-coding spliceosomal gene von Benoit-Pilven, Clara, Besson, Alicia, Putoux, Audrey, Benetollo, Claire, Saccaro, Clément, Guguin, Justine, Sala, Gabriel, Cologne, Audric, Delous, Marion, Lesca, Gaetan, Padgett, Richard A, Leutenegger, Anne-Louise, Lacroix, Vincent, Edery, Patrick, Mazoyer, Sylvie, Brusgaard, Klaus

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Intragenic FMR1 disease-causing variants: a significant mutational mechanism leading to Fragile-X syndrome von Quartier, Angélique, Poquet, Hélène, Gilbert-Dussardier, Brigitte, Rossi, Massimiliano, Casteleyn, Anne-Sophie, Portes, Vincent des, Feger, Claire, Nourisson, Elsa, Kuentz, Paul, Redin, Claire, Thevenon, Julien, Mosca-Boidron, Anne-Laure, Callier, Patrick, Muller, Jean, Lesca, Gaetan, Huet, Frédéric, Geoffroy, Véronique, El Chehadeh, Salima, Jung, Matthieu, Trojak, Benoit, Le Gras, Stéphanie, Lehalle, Daphné, Jost, Bernard, Maury, Stéphanie, Masurel, Alice, Edery, Patrick, Thauvin-Robinet, Christel, Gérard, Bénédicte, Mandel, Jean-Louis, Faivre, Laurence, Piton, Amélie

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A new intellectual disability syndrome caused by CTNNB1 haploinsufficiency von Dubruc, Estelle, Putoux, Audrey, Labalme, Audrey, Rougeot, Christelle, Sanlaville, Damien, Edery, Patrick

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A subset of genomic alterations detected in rolandic epilepsies contains candidate or known epilepsy genes including GRIN2A and PRRT2 von Dimassi, Sarra, Labalme, Audrey, Lesca, Gaetan, Rudolf, Gabrielle, Bruneau, Nadine, Hirsch, Edouard, Arzimanoglou, Alexis, Motte, Jacques, Saint Martin, Anne, Boutry‐Kryza, Nadia, Cloarec, Robin, Benitto, Afaf, Ameil, Agnès, Edery, Patrick, Ryvlin, Philippe, De Bellescize, Julitta, Szepetowski, Pierre, Sanlaville, Damien

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Behavioral disturbance and treatment strategies in Smith-Magenis syndrome von Poisson, Alice, Nicolas, Alain, Cochat, Pierre, Sanlaville, Damien, Rigard, Caroline, de Leersnyder, Hélène, Franco, Patricia, Des Portes, Vincent, Edery, Patrick, Demily, Caroline

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KCNQ2 R144 variants cause neurodevelopmental disability with language impairment and autistic features without neonatal seizures through a gain-of-function mechanism von Miceli, Francesco, Millevert, Charissa, Soldovieri, Maria Virginia, Mosca, Ilaria, Ambrosino, Paolo, Carotenuto, Lidia, Schrader, Dewi, Lee, Hyun Kyung, Riviello, James, Hong, William, Risen, Sarah, Emrick, Lisa, Amin, Hitha, Ville, Dorothée, Edery, Patrick, de Bellescize, Julitta, Michaud, Vincent, Van-Gils, Julien, Goizet, Cyril, Willemsen, Marjolein H., Kleefstra, Tjitske, Møller, Rikke S, Bayat, Allan, Devinsky, Orrin, Sands, Tristan, Korenke, G. Christoph, Kluger, Gerhard, Mefford, Heather C., Brilstra, Eva, Lesca, Gaetan, Milh, Mathieu, Cooper, Edward C., Taglialatela, Maurizio, Weckhuysen, Sarah

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Outcomes of 4 years of molecular genetic diagnosis on a panel of genes involved in premature aging syndromes, including laminopathies and related disorders von Grelet, Maude, Blanck, Véronique, Sigaudy, Sabine, Philip, Nicole, Giuliano, Fabienne, Khachnaoui, Khaoula, Morel, Godelieve, Grotto, Sarah, Sophie, Julia, Poirsier, Céline, Lespinasse, James, Alric, Laurent, Calvas, Patrick, Chalhoub, Gihane, Layet, Valérie, Molin, Arnaud, Colson, Cindy, Marsili, Luisa, Edery, Patrick, Lévy, Nicolas, De Sandre-Giovannoli, Annachiara

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A de novo frameshift pathogenic variant in TBR1 identified in autism without intellectual disability von Sapey-Triomphe, Laurie-Anne, Reversat, Julie, Lesca, Gaetan, Chatron, Nicolas, Bussa, Marina, Mazoyer, Sylvie, Schmitz, Christina, Sonie, Sandrine, Edery, Patrick

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Molecular investigation, using chromosomal microarray and whole exome sequencing, of six patients affected by Williams Beuren syndrome and Autism Spectrum Disorder von Masson, Julie, Demily, Caroline, Chatron, Nicolas, Labalme, Audrey, Rollat-Farnier, Pierre-Antoine, Schluth-Bolard, Caroline, Gilbert-Dussardier, Brigitte, Giuliano, Fabienne, Touraine, Renaud, Tordjman, Sylvie, Verloes, Alain, Testa, Giuseppe, Sanlaville, Damien, Edery, Patrick, Lesca, Gaetan, Rossi, Massimiliano

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Radiographic features of the skeleton in disorders of post-squalene cholesterol biosynthesis von Rossi, Massimiliano, Hall, Christine M., Bouvier, Raymonde, Collardeau-Frachon, Sophie, Le Breton, Frédérique, Bucourt, Martine, Cordier, Marie Pierre, Vianey-Saban, Christine, Parenti, Giancarlo, Andria, Generoso, Le Merrer, Martine, Edery, Patrick, Offiah, Amaka C.

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Refinement of genotype-phenotype correlation in 18 patients carrying a 1q24q25 deletion von Chatron, Nicolas, Haddad, Véronique, Andrieux, Joris, Désir, Julie, Boute, Odile, Dieux, Anne, Baumann, Clarisse, Drunat, Séverine, Gérard, Marion, Bonnet, Céline, Leheup, Bruno, Till, Marianne, Rossi, Massimiliano, Flori, Elisabeth, Alembik, Yves, Stewart, Helen, McParland, Joanna, Bernardini, Laura, Castelluccio, Pia, Roos, Laura, Tümer, Zeynep, Fagan, Kerry, Hackett, Anna, Bain, Nicole, van Haeringen, Arie, Ruivenkamp, Claudia, Benzacken, Brigitte, Sanlaville, Damien, Edery, Patrick, Aboura, Azzedine, Schluth-Bolard, Caroline

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Asparagine synthetase deficiency: A novel case with an unusual molecular mechanism von Faoucher, Marie, Poulat, Anne-Lise, Chatron, Nicolas, Labalme, Audrey, Schluth-Bolard, Caroline, Till, Marianne, Vianey-Saban, Christine, Portes, Vincent Des, Edery, Patrick, Sanlaville, Damien, Lesca, Gaëtan, Acquaviva, Cécile

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Cryptic genomic imbalances in de novo and inherited apparently balanced chromosomal rearrangements: Array CGH study of 47 unrelated cases von Schluth-Bolard, Caroline, Delobel, Bruno, Sanlaville, Damien, Boute, Odile, Cuisset, Jean-Marie, Sukno, Sylvie, Labalme, Audrey, Duban-Bedu, Bénédicte, Plessis, Ghislaine, Jaillard, Sylvie, Dubourg, Christèle, Henry, Catherine, Lucas, Josette, Odent, Sylvie, Pasquier, Laurent, Copin, Henri, Latour, Philippe, Cordier, Marie-Pierre, Nadeau, Gwenaël, Till, Marianne, Edery, Patrick, Andrieux, Joris

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The RET proto-oncogene induces apoptosis: a novel mechanism for Hirschsprung disease von Bordeaux, Marie-Claire, Forcet, Christelle, Granger, Laure, Corset, Véronique, Bidaud, Christelle, Billaud, Marc, Bredesen, Dale E., Edery, Patrick, Mehlen, Patrick

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Using Genomic Inbreeding Coefficient Estimates for Homozygosity Mapping of Rare Recessive Traits: Application to Taybi-Linder Syndrome von Leutenegger, Anne-Louise, Labalme, Audrey, Génin, Emmanuelle, Toutain, Annick, Steichen, Elisabeth, Clerget-Darpoux, Françoise, Edery, Patrick

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Postnatal clinical phenotype of five patients with Pallister–Killian Syndrome (tetrasomy 12p): Interest of array CGH for diagnosis and review of the literature von Alqahtani, Amerh Salem, Putoux, Audrey, Bonnet Dupeyron, Marie Noelle, Carneiro, Maryline, Lion‐Francois, Laurence, Rossi, Massimiliano, Tevissen, Hélène, Schluth Bolard, Caroline, Labalme, Audrey, Lesca, Gaetan, Till, Marianne, Edery, Patrick, Sanlaville, Damien

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Constitutional and somatic deletions of the Williams-Beuren syndrome critical region in non-Hodgkin lymphoma von Guenat, David, Quentin, Samuel, Rizzari, Carmelo, Lundin, Catarina, Coliva, Tiziana, Edery, Patrick, Fryssira, Helen, Bermont, Laurent, Ferrand, Christophe, Soulier, Jean, Borg, Christophe, Rohrlich, Pierre-Simon

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A large-scale mutation search reveals genetic heterogeneity in 3M syndrome von HUBER, Céline, DELEZOIDE, Anee-Lise, CLARK, Robin, COX, Helen, EDERY, Patrick, EDOUARD, Thomas, FANO, Virginia, GIBSON, Kate, GILLESSEN-KAESBACH, Gabriele, GIOVANNUCCI-UZIELLI, Maria-Luisa, MARGARETE GRAUL-NEUMANN, Luitgard, VAN HAGEN, Johana-Maria, GUIMIOT, Fabien, VAN HEST, Liselot, HOROVITZ, Dafne, MELKI, Judith, PARTSCH, Carl-Joachim, PLAUCHU, Henry, RAJAB, Anna, ROSSI, Massimiliano, SILLENCE, David, STEICHEN-GERSDORF, Elisabeth, STEWART, Helen, BAUMANN, Clarisse, UNGER, Sheila, ZENKER, Martin, MUNNICH, Arnold, CORMIER-DAIRE, Valérie, MALAN, Valérie, LE MERRER, Martine, BEZERRA DA SILVA, Daniela, BONNEAU, Dominique, CHATELAIN, Pierre, CHU, Carol

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Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome) von Munnich, Arnold, Bidaud, Christelle, Martelli, Helene, Hofstra, Robert M.W, Amiel, Jeanne, Lyonnet, Stanislas, Eng, Charis, Edery, Patrick, Pelet, Anna, Attie, Tania

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Mutations of the RET proto-oncogene in Hirschsprung's disease von Edery, Patrick, Lyonnet, Stanislas, Mulligan, Lois M, Pelet, Anna, Dow, Eleanore, Abel, Laurent, Holder, Susan, Nihoul-Fékété, Claire, Ponder, Bruce A. J, Munnich, Arnold

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