Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder
Cuinat, Silvestre, Nizon, Mathilde, Isidor, Bertrand, Stegmann, Alexander, van Jaarsveld, Richard H., van Gassen, Koen L., van der Smagt, Jasper J., Volker-Touw, Catharina M.L., Holwerda, Sjoerd J.B., Terhal, Paulien A., Schuhmann, Sarah, Vasileiou, Georgia, Khalifa, Mohamed, Nugud, Alaa A., Yasaei, Hemad, Ousager, Lilian Bomme, Brasch-Andersen, Charlotte, Deb, Wallid, Besnard, Thomas, Simon, Marleen E.H., Amsterdam, Karin Huijsdens-van, Verbeek, Nienke E., Matalon, Dena, Dykzeul, Natalie, White, Shana, Spiteri, Elizabeth, Devriendt, Koen, Boogaerts, Anneleen, Willemsen, Marjolein, Brunner, Han G., Sinnema, Margje, De Vries, Bert B.A., Gerkes, Erica H., Pfundt, Rolph, Izumi, Kosuke, Krantz, Ian D., Xu, Zhou L., Murrell, Jill R., Valenzuela, Irene, Cusco, Ivon, Rovira-Moreno, Eulàlia, Yang, Yaping, Bizaoui, Varoona, Patat, Olivier, Faivre, Laurence, Tran-Mau-Them, Frederic, Vitobello, Antonio, Denommé-Pichon, Anne-Sophie, Philippe, Christophe, Bezieau, Stéphane, Cogné, Benjamin
Published in Genetics in medicine (01.08.2022)
Published in Genetics in medicine (01.08.2022)
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Case Report: Successful Cerebral Revascularization and Cardiac Transplant in a 16-Year-Old Male With Syndromic BRCC3 -Related Moyamoya Angiopathy
Pyra, Pierrick, Darcourt, Jean, Aubert-Mucca, Marion, Brandicourt, Pierre, Patat, Olivier, Cheuret, Emmanuel, Brochard, Karine, Sevely, Annick, Calviere, Lionel, Karsenty, Clément
Published in Frontiers in neurology (30.03.2021)
Published in Frontiers in neurology (30.03.2021)
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Truncating Mutations in the Adhesion G Protein-Coupled Receptor G2 Gene ADGRG2 Cause an X-Linked Congenital Bilateral Absence of Vas Deferens
Patat, Olivier, Pagin, Adrien, Siegfried, Aurore, Mitchell, Valérie, Chassaing, Nicolas, Faguer, Stanislas, Monteil, Laetitia, Gaston, Véronique, Bujan, Louis, Courtade-Saïdi, Monique, Marcelli, François, Lalau, Guy, Rigot, Jean-Marc, Mieusset, Roger, Bieth, Eric
Published in American journal of human genetics (04.08.2016)
Published in American journal of human genetics (04.08.2016)
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Molecular and clinical descriptions of patients with GABAA receptor gene variants (GABRA1, GABRB2, GABRB3, GABRG2): A cohort study, review of literature, and genotype–phenotype correlation
Maillard, Pierre‐Yves, Baer, Sarah, Schaefer, Élise, Desnous, Béatrice, Villeneuve, Nathalie, Lépine, Anne, Fabre, Alexandre, Lacoste, Caroline, El Chehadeh, Salima, Piton, Amélie, Porter, Louise Frances, Perriard, Caroline, Wardé, Marie‐Thérèse Abi, Spitz, Marie‐Aude, Laugel, Vincent, Lesca, Gaëtan, Putoux, Audrey, Ville, Dorothée, Mignot, Cyril, Héron, Delphine, Nabbout, Rima, Barcia, Giulia, Rio, Marlène, Roubertie, Agathe, Meyer, Pierre, Paquis‐Flucklinger, Véronique, Patat, Olivier, Lefranc, Jérémie, Gerard, Marion, Bellescize, Julietta, Villard, Laurent, Saint Martin, Anne, Milh, Mathieu
Published in Epilepsia (Copenhagen) (01.10.2022)
Published in Epilepsia (Copenhagen) (01.10.2022)
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Patients with KCNH1-related intellectual disability without distinctive features of Zimmermann-Laband/Temple-Baraitser syndrome
Aubert Mucca, Marion, Patat, Olivier, Whalen, Sandra, Arnaud, Lionel, Barcia, Giulia, Buratti, Julien, Cogné, Benjamin, Doummar, Diane, Karsenty, Caroline, Kenis, Sandra, Leguern, Eric, Lesca, Gaetan, Nava, Caroline, Nizon, Mathilde, Piton, Amelie, Valence, Stéphanie, Villard, Laurent, Weckhuysen, Sarah, Keren, Boris, Mignot, Cyril
Published in Journal of medical genetics (01.05.2022)
Published in Journal of medical genetics (01.05.2022)
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Clinical heterogeneity of NADSYN1‐associated VCRL syndrome
Aubert‐Mucca, Marion, Janel, Caroline, Porquet‐Bordes, Valérie, Patat, Olivier, Touraine, Renaud, Edouard, Thomas, Michot, Caroline, Tessier, Aude, Cormier‐Daire, Valérie, Attie‐Bitach, Tania, Baujat, Geneviève
Published in Clinical genetics (01.07.2023)
Published in Clinical genetics (01.07.2023)
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The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder
Rots, Dmitrijs, Jakub, Taryn E., Keung, Crystal, Jackson, Adam, Banka, Siddharth, Pfundt, Rolph, de Vries, Bert B.A., van Jaarsveld, Richard H., Hopman, Saskia M.J., Valenzuela, Irene, Hempel, Maja, Bierhals, Tatjana, Kortüm, Fanny, Lecoquierre, Francois, Goldenberg, Alice, Hertz, Jens Michael, Kibæk, Maria, Prijoles, Eloise J., Stevenson, Roger E., Everman, David B., Patterson, Wesley G., Meng, Linyan, Gijavanekar, Charul, De Dios, Karl, Lakhani, Shenela, Levy, Tess, Wieczorek, Dagmar, Benke, Paul J., Lopez Garcia, María Soledad, Perrier, Renee, Sousa, Sergio B., Almeida, Pedro M., Isidor, Bertrand, Deb, Wallid, Schmanski, Andrew A., Abdul-Rahman, Omar, Philippe, Christophe, Bruel, Ange-Line, Faivre, Laurence, Thauvin, Christel, Smits, Jeroen J., Garavelli, Livia, Caraffi, Stefano G., Peluso, Francesca, Royer, Erin, Leeuwen, Lisette, Stegmann, Alexander P.A., Stumpel, Constance T.R.M., Tiller, George E., Bosch, Daniëlle G.M., Potgieter, Stephanus T., Joss, Shelagh, Splitt, Miranda, Holden, Simon, Prapa, Matina, Foulds, Nicola, Waltes, Regina, Chiocchetti, Andreas G., Freitag, Christine M., De Rubeis, Silvia, Buxbaum, Joseph, Gelb, Bruce D., Branko, Aleksic, Kushima, Itaru, Howe, Jennifer, Scherer, Stephen W., Arado, Alessia, Baldo, Chiara, Patat, Olivier, Bénédicte, Demeer, Lopergolo, Diego, Santorelli, Filippo M., Dufke, Andreas, Falb, Ruth J., Rieß, Angelika, Krieg, Peter, Spranger, Stephanie, Iascone, Maria, Josephi-Taylor, Sarah, Roscioli, Tony, Buckley, Michael F., Liebelt, Jan, Dagli, Aditi I., Aten, Emmelien, Hurst, Anna C.E., Suri, Mohnish, Aliu, Ermal, Naik, Sunil, Coursimault, Juliette, Nicolas, Gaël, Küpper, Hanna, Ibrahim, Veyan, Top, Deniz, Di Cara, Francesca, Louie, Raymond J., Stolerman, Elliot, Brunner, Han G., Vissers, Lisenka E.L.M., Kramer, Jamie M., Kleefstra, Tjitske
Published in American journal of human genetics (01.06.2023)
Published in American journal of human genetics (01.06.2023)
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Classification of PTEN germline non-truncating variants: a new approach to interpretation
Margot, Henri, Jones, Natalie, Matis, Thibaut, Bonneau, Dominique, Busa, Tiffany, Bonnet, Françoise, Conrad, Solene, Crivelli, Louise, Monin, Pauline, Fert-Ferrer, Sandra, Mortemousque, Isabelle, Raad, Sabine, Lacombe, Didier, Caux, Frédéric, Sevenet, Nicolas, Bubien, Virginie, Longy, Michel
Published in Journal of medical genetics (02.10.2024)
Published in Journal of medical genetics (02.10.2024)
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Targeted next‐generation sequencing in a large series of fetuses with severe renal diseases
Jordan, Penelope, Dorval, Guillaume, Arrondel, Christelle, Morinière, Vincent, Tournant, Carole, Audrezet, Marie‐Pierre, Michel‐Calemard, Laurence, Putoux, Audrey, Lesca, Gaethan, Labalme, Audrey, Whalen, Sandra, Loeuillet, Laurence, Martinovic, Jelena, Attie‐Bitach, Tania, Bessières, Bettina, Schaefer, Elise, Scheidecker, Sophie, Lambert, Laetitia, Beneteau, Claire, Patat, Olivier, Boute‐Benejean, Odile, Molin, Arnaud, Guimiot, Fabien, Fontanarosa, Nicolas, Nizon, Mathilde, Lefebvre, Mathilde, Jeanpierre, Cécile, Saunier, Sophie, Heidet, Laurence
Published in Human mutation (01.03.2022)
Published in Human mutation (01.03.2022)
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Molecular and clinical description of patients with GABA A receptor gene variants ( GABRA1 , GABRB2 , GABRB3 , GABRG2 ): a cohort study, review of literature, and genotype‐phenotype correlations
Maillard, Pierre‐yves, Baer, Sarah, Schaefer, Élise, Desnous, Béatrice, Villeneuve, Nathalie, Lépine, Anne, Fabre, Alexandre, Lacoste, Caroline, El Chehadeh, Salima, Piton, Amélie, Porter, Louise Frances, Perriard, Caroline, Abi Wardé, Marie‐thérèse, Spitz, Marie‐aude, Laugel, Vincent, Lesca, Gaëtan, Putoux, Audrey, Ville, Dorothée, Mignot, Cyril, Héron, Delphine, Nabbout, Rima, Barcia, Giulia, Rio, Marlène, Roubertie, Agathe, Meyer, Pierre, Paquis-Flucklinger, Véronique, Patat, Olivier, Lefranc, Jérémie, Gerard, Marion, de Bellescize, Julietta, Villard, Laurent, de Saint Martin, Anne, Milh, Mathieu
Published in Epilepsia (Copenhagen) (06.10.2022)
Published in Epilepsia (Copenhagen) (06.10.2022)
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Multiple molecular diagnoses in the field of intellectual disability and congenital anomalies: 3.5% of all positive cases
Racine, Caroline, Denommé-Pichon, Anne-Sophie, Engel, Camille, Tran Mau-them, Frederic, Bruel, Ange-Line, Vitobello, Antonio, Safraou, Hana, Sorlin, Arthur, Nambot, Sophie, Delanne, Julian, Garde, Aurore, Colin, Estelle, Moutton, Sébastien, Thevenon, Julien, Jean-Marçais, Nolwenn, Willems, Marjolaine, Geneviève, David, Pinson, Lucile, Perrin, Laurence, Laffargue, Fanny, Lacaze, Elodie, Molin, Arnaud, Gerard, Marion, Lambert, Laetitia, Benigni, Charlotte, Patat, Olivier, Bourgeois, Valentin, Poe, Charlotte, Chevarin, Martin, Couturier, Victor, Philippe, Christophe, Duffourd, Yannis, Faivre, Laurence, Thauvin-Robinet, Christel, Verloes, Alain, Goldenberg, Alice, Masurel, Alice, Vincent, Aline, Frances-Guidet, Anne-Marie, Laudier, Béatrice, Demeer, Bénédicte, Funalot, Benoit, Doray, Bérénice, Gilbert-Dussardier, Brigitte, Leheup, Bruno, Poirsier, Céline, Dubucs, Charlotte, Chiaverini, Christine, Coubes, Christine, Francannet, Christine, Colson, Cindy, Bansept, Claire, Wells, Constance, Goizet, Cyril, Mignot, Cyril, Amram, Daniel, Amsallem, Daniel, Lacombe, Didier, Martin-Coignard, Dominique, Schaefer, Elise, Guiliano, Fabienne, Prieur, Fabienne, Petit, Florence, Riccardi, Florence, Meloni, Francesca, Feillet, François, Guyader, Gwenael Le, Journel, Hubert, Coupier, Isabelle, Maystadt, Isabelle, Alessandri, Jean-Luc, Ruaud, Lyse, Jacquemont, Marie-Line, Bonnet-Dupeyron, Marie Noëlle, Lebrun, Marine, Spodenkiewicz, Marta, Renaud, Mathilde, Grelet, Maude, Chassaing, Nicolas, Philip, Nicole, Boute, Odile, Pujol, Pascal, Blanchet, Patricia, Kien, Philippe Khau Van, Parent, Philippe, Vabres, Pierre, Touraine, Renaud, Caumes, Roseline, Sigaudy, Sabine, Whalen, Sandra, Passemard, Sandrine, Grotto, Sarah, Bellanger, Séverine Audebert, Julia, Sophie, Bertrand, Thierry Lavabre, Busa, Tiffany, Layet, Valérie, Bizaoui, Varoona, Trujillo, Yaumara Perdomo, Capri, Yline
Published in Journal of medical genetics (01.01.2024)
Published in Journal of medical genetics (01.01.2024)
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“Alternating” the Diagnosis after 40 Years of Disease: The Thousand Faces of ATP1A3 Mutation
Gallo, Silvia, Ory‐Magne, Fabienne, Leung, Clémence, Fabbri, Margherita, Estublier, Bastien, Cheuret, Emmanuel, Patat, Olivier, Pinheiro Barbosa, Raquel
Published in Movement disorders clinical practice (Hoboken, N.J.) (01.08.2024)
Published in Movement disorders clinical practice (Hoboken, N.J.) (01.08.2024)
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High rate of hypomorphic variants as the cause of inherited ataxia and related diseases: study of a cohort of 366 families
Benkirane, Mehdi, Marelli, Cecilia, Guissart, Claire, Roubertie, Agathe, Ollagnon, Elizabeth, Choumert, Ariane, Fluchère, Frédérique, Magne, Fabienne Ory, Halleb, Yosra, Renaud, Mathilde, Larrieu, Lise, Baux, David, Patat, Olivier, Bousquet, Idriss, Ravel, Jean-Marie, Cuntz-Shadfar, Danielle, Sarret, Catherine, Ayrignac, Xavier, Rolland, Anne, Morales, Raoul, Pointaux, Morgane, Lieutard-Haag, Cathy, Laurens, Brice, Tillikete, Caroline, Bernard, Emilien, Mallaret, Martial, Carra-Dallière, Clarisse, Tranchant, Christine, Meyer, Pierre, Damaj, Lena, Pasquier, Laurent, Acquaviva, Cecile, Chaussenot, Annabelle, Isidor, Bertrand, Nguyen, Karine, Camu, William, Eusebio, Alexandre, Carrière, Nicolas, Riquet, Audrey, Thouvenot, Eric, Gonzales, Victoria, Carme, Emilie, Attarian, Shahram, Odent, Sylvie, Castrioto, Anna, Ewenczyk, Claire, Charles, Perrine, Kremer, Laurent, Sissaoui, Samira, Bahi-buisson, Nadia, Kaphan, Elsa, Degardin, Adrian, Doray, Bérénice, Julia, Sophie, Remerand, Ganaëlle, Fraix, Valerie, Haidar, Lydia Abou, Lazaro, Leila, Laugel, Vincent, Villega, Frederic, Charlin, Cyril, Frismand, Solène, Moreira, Marinha Costa, Witjas, Tatiana, Francannet, Christine, Walther-Louvier, Ulrike, Fradin, Mélanie, Chabrol, Brigitte, Fluss, Joel, Bieth, Eric, Castelnovo, Giovanni, Vergnet, Sylvain, Meunier, Isabelle, Verloes, Alain, Brischoux-Boucher, Elise, Coubes, Christine, Geneviève, David, Lebouc, Nicolas, Azulay, Jean Phillipe, Anheim, Mathieu, Goizet, Cyril, Rivier, François, Labauge, Pierre, Calvas, Patrick, Koenig, Michel
Published in Genetics in medicine (01.11.2021)
Published in Genetics in medicine (01.11.2021)
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Abnormalities of the corpus callosum. Can prenatal imaging predict the genetic status? Correlations between imaging phenotype and genotype
Nguyen, Toan, Heide, Solveig, Guilbaud, Lucie, Valence, Stéphanie, Perre, Saskia Vande, Blondiaux, Eléonore, Keren, Boris, Quenum‐Miraillet, Geneviève, Jouannic, Jean‐Marie, Mandelbrot, Laurent, Picone, Olivier, Guet, Agnès, Tsatsaris, Vassilis, Milh, Mathieu, Girard, Nadine, Vincent, Marie, Nizon, Mathilde, Poirsier, Céline, Vivanti, Alexandre, Benachi, Alexandra, Portes, Vincent des, Guibaud, Laurent, Patat, Olivier, Spentchian, Myrtille, Frugère, Lisa, Héron, Delphine, Garel, Catherine
Published in Prenatal diagnosis (01.06.2023)
Published in Prenatal diagnosis (01.06.2023)
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Molecular and clinical descriptions of patients with GABA A receptor gene variants (GABRA1, GABRB2, GABRB3, GABRG2): A cohort study, review of literature, and genotype-phenotype correlation
Maillard, Pierre-Yves, Baer, Sarah, Schaefer, Élise, Desnous, Béatrice, Villeneuve, Nathalie, Lépine, Anne, Fabre, Alexandre, Lacoste, Caroline, El Chehadeh, Salima, Piton, Amélie, Porter, Louise Frances, Perriard, Caroline, Wardé, Marie-Thérèse Abi, Spitz, Marie-Aude, Laugel, Vincent, Lesca, Gaëtan, Putoux, Audrey, Ville, Dorothée, Mignot, Cyril, Héron, Delphine, Nabbout, Rima, Barcia, Giulia, Rio, Marlène, Roubertie, Agathe, Meyer, Pierre, Paquis-Flucklinger, Véronique, Patat, Olivier, Lefranc, Jérémie, Gerard, Marion, de Bellescize, Julietta, Villard, Laurent, De Saint Martin, Anne, Milh, Mathieu
Published in Epilepsia (Copenhagen) (01.10.2022)
Published in Epilepsia (Copenhagen) (01.10.2022)
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Antenatal ultrasound features of isolated recurrent copy number variation in 7q11.23 (Williams syndrome and 7q11.23 duplication syndrome)
Courdier, Cécile, Boudjarane, John, Malan, Valérie, Muti, Christine, Sperelakis‐Beedham, Brian, Odent, Sylvie, Jaillard, Sylvie, Quelin, Chloé, Le Caignec, Cédric, Patat, Olivier, Dubucs, Charlotte, Julia, Sophie, Schluth‐Bolard, Caroline, Goumy, Carole, Redon, Sylvia, Gaillard, Jean‐Baptiste, Huynh, Minh Tuan, Dupont, Céline, Tabet, Anne‐Claude, Cogan, Guillaume, Vialard, François, Dard, Rodolphe, Jedraszak, Guillaume, Jobic, Florence, Lefebvre, Mathilde, Quenum, Geneviève, Inai, Saori, Rama, Mélanie, Sauvestre, Fanny, Coatleven, Frédéric, Thomas, Julie, Rooryck, Caroline
Published in Prenatal diagnosis (01.06.2023)
Published in Prenatal diagnosis (01.06.2023)
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