Clinical, Histopathological, and Molecular Diagnostics in Lethal Lung Developmental Disorders von Vincent, Marie, Karolak, Justyna A, Deutsch, Gail, Gambin, Tomasz, Popek, Edwina, Isidor, Bertrand, Szafranski, Przemyslaw, Le Caignec, Cedric, Stankiewicz, Paweł

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Natural history of GATA2 deficiency in a survey of 79 French and Belgian patients von Donadieu, Jean, Lamant, Marie, Fieschi, Claire, de Fontbrune, Flore Sicre, Caye, Aurélie, Ouachee, Marie, Beaupain, Blandine, Bustamante, Jacinta, Poirel, Hélène A, Isidor, Bertrand, Van Den Neste, Eric, Neel, Antoine, Nimubona, Stanislas, Toutain, Fabienne, Barlogis, Vincent, Schleinitz, Nicolas, Leblanc, Thierry, Rohrlich, Pierre, Suarez, Felipe, Ranta, Dana, Chahla, Wadih Abou, Bruno, Bénédicte, Terriou, Louis, Francois, Sylvie, Lioure, Bruno, Ahle, Guido, Bachelerie, Françoise, Preudhomme, Claude, Delabesse, Eric, Cave, Hélène, Bellanné-Chantelot, Christine, Pasquet, Marlène

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Biological concepts in human sodium channel epilepsies and their relevance in clinical practice von Brunklaus, Andreas, Du, Juanjiangmeng, Steckler, Felix, Ghanty, Ismael I., Johannesen, Katrine M., Fenger, Christina Dühring, Schorge, Stephanie, Baez‐Nieto, David, Wang, Hao‐Ran, Allen, Andrew, Pan, Jen Q., Lerche, Holger, Heyne, Henrike, Symonds, Joseph D., Zuberi, Sameer M., Sanders, Stephan, Sheidley, Beth R., Craiu, Dana, Olson, Heather E., Weckhuysen, Sarah, DeJonge, Peter, Helbig, Ingo, Van Esch, Hilde, Busa, Tiffany, Milh, Matthieu, Isidor, Bertrand, Depienne, Christel, Poduri, Annapurna, Campbell, Arthur J., Dimidschstein, Jordane, Møller, Rikke S., Lal, Dennis

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Polymicrogyria in a child with KCNMA1-related channelopathy von Graber, Denis, Imagawa, Eri, Miyake, Noriko, Matsumoto, Naomichi, Miyatake, Satoko, Graber, Marianne, Isidor, Bertrand

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The identification of giant platelets with disorganized granules can suggest ACTB gene mutation von Fouassier, Marc, Isidor, Bertrand, Cogne, Benjamin, Béné, Marie C., Eveillard, Marion

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THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorder von Broly, Martin, Polevoda, Bogdan V., Awayda, Kamel M., Tong, Ning, Lentini, Jenna, Besnard, Thomas, Deb, Wallid, O’Rourke, Declan, Baptista, Julia, Ellard, Sian, Almannai, Mohammed, Hashem, Mais, Abdulwahab, Ferdous, Shamseldin, Hanan, Al-Tala, Saeed, Alkuraya, Fowzan S., Leon, Alberta, van Loon, Rosa L.E., Ferlini, Alessandra, Sanchini, Mariabeatrice, Bigoni, Stefania, Ciorba, Andrea, van Bokhoven, Hans, Iqbal, Zafar, Al-Maawali, Almundher, Al-Murshedi, Fathiya, Ganesh, Anuradha, Al-Mamari, Watfa, Lim, Sze Chern, Pais, Lynn S., Brown, Natasha, Riazuddin, Saima, Bézieau, Stéphane, Fu, Dragony, Isidor, Bertrand, Cogné, Benjamin, O’Connell, Mitchell R.

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Mutations in GREB1L Cause Bilateral Kidney Agenesis in Humans and Mice von De Tomasi, Lara, David, Pierre, Humbert, Camille, Silbermann, Flora, Arrondel, Christelle, Tores, Frédéric, Fouquet, Stéphane, Desgrange, Audrey, Niel, Olivier, Bole-Feysot, Christine, Nitschké, Patrick, Roume, Joëlle, Cordier, Marie-Pierre, Pietrement, Christine, Isidor, Bertrand, Khau Van Kien, Philippe, Gonzales, Marie, Saint-Frison, Marie-Hélène, Martinovic, Jelena, Novo, Robert, Piard, Juliette, Cabrol, Christelle, Verma, Ishwar C., Puri, Ratna, Journel, Hubert, Aziza, Jacqueline, Gavard, Laurent, Said-Menthon, Marie-Hélène, Heidet, Laurence, Saunier, Sophie, Jeanpierre, Cécile

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USP7 Acts as a Molecular Rheostat to Promote WASH-Dependent Endosomal Protein Recycling and Is Mutated in a Human Neurodevelopmental Disorder von Hao, Yi-Heng, Fountain, Michael D., Fon Tacer, Klementina, Xia, Fan, Bi, Weimin, Kang, Sung-Hae L., Patel, Ankita, Rosenfeld, Jill A., Le Caignec, Cédric, Isidor, Bertrand, Krantz, Ian D., Noon, Sarah E., Pfotenhauer, Jean P., Morgan, Thomas M., Moran, Rocio, Pedersen, Robert C., Saenz, Margarita S., Schaaf, Christian P., Potts, Patrick Ryan

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Multiple congenital anomalies in two fetuses with glutathione‐synthetase deficit (GSS) von Jury, Jeanne, Benoist, Jean‐François, Joubert, Madeleine, Quelin, Chloé, Besnard, Thomas, Conrad, Solène, Le Vaillant, Claudine, Bézieau, Stéphane, Isidor, Bertrand, Attié‐Bitach, Tania, Cogné, Benjamin, Vincent, Marie

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Novel mutations in NLGN3 causing autism spectrum disorder and cognitive impairment von Quartier, Angélique, Courraud, Jérémie, Thi Ha, Thuong, McGillivray, George, Isidor, Bertrand, Rose, Katherine, Drouot, Nathalie, Savidan, Marie‐Armel, Feger, Claire, Jagline, Hélène, Chelly, Jamel, Shaw, Marie, Laumonnier, Frédéric, Gecz, Jozef, Mandel, Jean‐Louis, Piton, Amélie

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SpliceAI-visual: a free online tool to improve SpliceAI splicing variant interpretation von de Sainte Agathe, Jean-Madeleine, Filser, Mathilde, Isidor, Bertrand, Besnard, Thomas, Gueguen, Paul, Perrin, Aurélien, Van Goethem, Charles, Verebi, Camille, Masingue, Marion, Rendu, John, Cossée, Mireille, Bergougnoux, Anne, Frobert, Laurent, Buratti, Julien, Lejeune, Élodie, Le Guern, Éric, Pasquier, Florence, Clot, Fabienne, Kalatzis, Vasiliki, Roux, Anne-Françoise, Cogné, Benjamin, Baux, David

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De novo KCNA6 variants with attenuated KV1.6 channel deactivation in patients with epilepsy von Salpietro, Vincenzo, Galassi Deforie, Valentina, Efthymiou, Stephanie, O'Connor, Emer, Marcé‐Grau, Anna, Maroofian, Reza, Striano, Pasquale, Zara, Federico, Morrow, Michelle M., Reich, Adi, Blevins, Amy, Sala‐Coromina, Júlia, Accogli, Andrea, Fortuna, Sara, Alesandrini, Marie, Au, P. Y. Billie, Singhal, Nilika Shah, Cogne, Benjamin, Isidor, Bertrand, Hanna, Michael G., Macaya, Alfons, Kullmann, Dimitri M., Houlden, Henry, Männikkö, Roope

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Pycnodysostosis: Natural history and management guidelines from 27 French cases and a literature review von Bizaoui, Varoona, Michot, Caroline, Baujat, Geneviève, Amouroux, Cyril, Baron, Sabine, Capri, Yline, Cohen‐Solal, Martine, Collet, Corinne, Dieux, Anne, Geneviève, David, Isidor, Bertrand, Monnot, Sophie, Rossi, Massimiliano, Rothenbuhler, Anya, Schaefer, Elise, Cormier‐Daire, Valérie

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Clinical and Molecular Spectrum of Nonsyndromic Early‐Onset Osteoarthritis von Ruault, Valentin, Yauy, Kevin, Fabre, Aurélie, Fradin, Mélanie, Van-Gils, Julien, Angelini, Chloé, Baujat, Geneviève, Blanchet, Patricia, Cuinat, Silvestre, Isidor, Bertrand, Jorgensen, Christian, Lacombe, Didier, Moutton, Sébastien, Odent, Sylvie, Sanchez, Elodie, Sigaudy, Sabine, Touitou, Isabelle, Willems, Marjolaine, Apparailly, Florence, Geneviève, David, Barat-Houari, Mouna

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Chromosomal instability by mutations in the novel minor spliceosome component CENATAC von de Wolf, Bas, Oghabian, Ali, Akinyi, Maureen V, Hanks, Sandra, Tromer, Eelco C, van Hooff, Jolien J E, van Voorthuijsen, Lisa, van Rooijen, Laura E, Verbeeren, Jens, Uijttewaal, Esther C H, Baltissen, Marijke P A, Yost, Shawn, Piloquet, Philippe, Vermeulen, Michiel, Snel, Berend, Isidor, Bertrand, Rahman, Nazneen, Frilander, Mikko J, Kops, Geert J P L

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The Number of Genomic Copies at the 16p11.2 Locus Modulates Language, Verbal Memory, and Inhibition von Hippolyte, Loyse, Maillard, Anne M, Rodriguez-Herreros, Borja, Pain, Aurélie, Martin-Brevet, Sandra, Ferrari, Carina, Conus, Philippe, Macé, Aurélien, Hadjikhani, Nouchine, Metspalu, Andres, Reigo, Anu, Kolk, Anneli, Männik, Katrin, Barker, Mandy, Isidor, Bertrand, Le Caignec, Cédric, Mignot, Cyril, Schneider, Laurence, Mottron, Laurent, Keren, Boris, David, Albert, Doco-Fenzy, Martine, Gérard, Marion, Bernier, Raphael, Goin-Kochel, Robin P, Hanson, Ellen, Green Snyder, LeeAnne, Ramus, Franck, Beckmann, Jacques S, Draganski, Bogdan, Reymond, Alexandre, Jacquemont, Sébastien

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GABRA1‐Related Disorders: From Genetic to Functional Pathways von Musto, Elisa, Liao, Vivian W. Y., Johannesen, Katrine M., Fenger, Christina D., Lederer, Damien, Kothur, Kavitha, Fisk, Katrina, Bennetts, Bruce, Vrielynck, Pascal, Delaby, Delphine, Ceulemans, Berten, Weckhuysen, Sarah, Sparber, Peter, Bouman, Arjan, Ardern‐Holmes, Simone, Troedson, Christopher, Battaglia, Domenica I., Goel, Himanshu, Feyma, Timothy, Bakhtiari, Somayeh, Tjoa, Linda, Boxill, Martin, Demina, Nina, Shchagina, Olga, Dadali, Elena, Kruer, Michael, Cantalupo, Gaetano, Contaldo, Ilaria, Polster, Tilman, Isidor, Bertrand, Bova, Stefania M., Fazeli, Walid, Wouters, Leen, Miranda, Maria J., Darra, Francesca, Pede, Elisa, Le Duc, Diana, Jamra, Rami Abou, Küry, Sébastien, Proietti, Jacopo, McSweeney, Niamh, Brokamp, Elly, Andrews, Peter Ian, Gouray Garcia, Marie, Chebib, Mary, Møller, Rikke S., Ahring, Philip K., Gardella, Elena

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Single amino acid charge switch defines clinically distinct proline-serine-threonine phosphatase-interacting protein 1 (PSTPIP1)–associated inflammatory diseases von Holzinger, Dirk, MD, Fassl, Selina Kathleen, MSc, de Jager, Wilco, PhD, Lohse, Peter, MD, Röhrig, Ute F., PhD, Gattorno, Marco, MD, Omenetti, Alessia, MD, Chiesa, Sabrina, MD, Schena, Francesca, PhD, Austermann, Judith, PhD, Vogl, Thomas, PhD, Kuhns, Douglas B., PhD, Holland, Steven M., MD, Rodríguez-Gallego, Carlos, PhD, López-Almaraz, Ricardo, MD, Arostegui, Juan I., MD, PhD, Colino, Elena, MD, Roldan, Rosa, MD, PhD, Fessatou, Smaragdi, MD, Isidor, Bertrand, MD, Poignant, Sylvaine, MD, Ito, Koichi, MD, Epple, Hans-Joerg, MD, Bernstein, Jonathan A., MD, PhD, Jeng, Michael, MD, Frankovich, Jennifer, MD, Lionetti, Geraldina, MD, Church, Joseph A., MD, Ong, Peck Y., MD, PhD, LaPlant, Mona, MD, Abinun, Mario, MD, Skinner, Rod, MD, Bigley, Venetia, MD, Sachs, Ulrich J., MD, PhD, Hinze, Claas, MD, Hoppenreijs, Esther, MD, Ehrchen, Jan, MD, PhD, Foell, Dirk, MD, Chae, Jae Jin, PhD, Ombrello, Amanda, MD, Aksentijevich, Ivona, MD, PhD, Sunderkoetter, Cord, MD, Roth, Johannes, MD

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Chromosome 14q32.2 Imprinted Region Disruption as an Alternative Molecular Diagnosis of Silver-Russell Syndrome von Geoffron, Sophie, Abi Habib, Walid, Chantot-Bastaraud, Sandra, Dubern, Béatrice, Steunou, Virginie, Azzi, Salah, Afenjar, Alexandra, Busa, Tiffanny, Pinheiro Canton, Ana, Chalouhi, Christel, Dufourg, Marie-Noëlle, Esteva, Blandine, Fradin, Mélanie, Geneviève, David, Heide, Solveig, Isidor, Bertrand, Linglart, Agnès, Morice Picard, Fanny, Naud-Saudreau, Catherine, Oliver Petit, Isabelle, Philip, Nicole, Pienkowski, Catherine, Rio, Marlène, Rossignol, Sylvie, Tauber, Maithé, Thevenon, Julien, Vu-Hong, Thuy-Ai, Harbison, Madeleine D, Salem, Jennifer, Brioude, Frédéric, Netchine, Irène, Giabicani, Eloïse

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Genotype/phenotype correlations of childhood‐onset congenital sideroblastic anaemia in a European cohort von Fouquet, Cyrielle, Le Rouzic, Marie‐Amelyne, Leblanc, Thierry, Fouyssac, Fanny, Leverger, Guy, Hessissen, Laila, Marlin, Sandrine, Bourrat, Emmanuelle, Fahd, Mony, Raffoux, Emmanuel, Vannier, Jean‐Pierre, Jäkel, Nadja, Knoefler, Ralf, Triolo, Valerie, Pasquet, Marlene, Bayart, Sophie, Thuret, Isabelle, Lutz, Patrick, Vermylen, Christiane, Touati, Mohamed, Rose, Christian, Matthes, Thomas, Isidor, Bertrand, Kannengiesser, Caroline, Ducassou, Stephane

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