HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients von Moortgat, Stéphanie, Berland, Siren, Aukrust, Ingvild, Maystadt, Isabelle, Baker, Laura, Benoit, Valerie, Caro-Llopis, Alfonso, Cooper, Nicola S, Debray, François-Guillaume, Faivre, Laurence, Gardeitchik, Thatjana, Haukanes, Bjørn I, Houge, Gunnar, Kivuva, Emma, Martinez, Francisco, Mehta, Sarju G, Nassogne, Marie-Cécile, Powell-Hamilton, Nina, Pfundt, Rolph, Rosello, Monica, Prescott, Trine, Vasudevan, Pradeep, van Loon, Barbara, Verellen-Dumoulin, Christine, Verloes, Alain, Lippe, Charlotte von der, Wakeling, Emma, Wilkie, Andrew O M, Wilson, Louise, Yuen, Amy, Study, Ddd, Low, Karen J, Newbury-Ecob, Ruth A

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Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype von Zanoni, Paolo, Steindl, Katharina, Sengupta, Deepanwita, Joset, Pascal, Bahr, Angela, Sticht, Heinrich, Lang-Muritano, Mariarosaria, van Ravenswaaij-Arts, Conny M.A., Shinawi, Marwan, Andrews, Marisa, Attie-Bitach, Tania, Maystadt, Isabelle, Belnap, Newell, Benoit, Valerie, Delplancq, Geoffroy, de Vries, Bert B.A., Grotto, Sarah, Lacombe, Didier, Larson, Austin, Mourmans, Jeroen, Õunap, Katrin, Petrilli, Giulia, Pfundt, Rolph, Ramsey, Keri, Blok, Lot Snijders, Tsatsaris, Vassilis, Vitobello, Antonio, Faivre, Laurence, Wheeler, Patricia G., Wevers, Marijke R., Wojcik, Monica, Zweier, Markus, Gozani, Or, Rauch, Anita

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Plekhg5-regulated autophagy of synaptic vesicles reveals a pathogenic mechanism in motoneuron disease von Lüningschrör, Patrick, Binotti, Beyenech, Dombert, Benjamin, Heimann, Peter, Perez-Lara, Angel, Slotta, Carsten, Thau-Habermann, Nadine, R. von Collenberg, Cora, Karl, Franziska, Damme, Markus, Horowitz, Arie, Maystadt, Isabelle, Füchtbauer, Annette, Füchtbauer, Ernst-Martin, Jablonka, Sibylle, Blum, Robert, Üçeyler, Nurcan, Petri, Susanne, Kaltschmidt, Barbara, Jahn, Reinhard, Kaltschmidt, Christian, Sendtner, Michael

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De novo, heterozygous, loss-of-function mutations in SYNGAP1 cause a syndromic form of intellectual disability von Parker, Michael J., Fryer, Alan E., Shears, Deborah J., Lachlan, Katherine L., McKee, Shane A., Magee, Alex C., Mohammed, Shehla, Vasudevan, Pradeep C., Park, Soo-Mi, Benoit, Valérie, Lederer, Damien, Maystadt, Isabelle, study, DDD, FitzPatrick, David R.

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Small noncoding differentially methylated copy-number variants, including lncRNA genes, cause a lethal lung developmental disorder von Szafranski, Przemyslaw, Dharmadhikari, Avinash V, Brosens, Erwin, Gurha, Priyatansh, Kolodziejska, Katarzyna E, Zhishuo, Ou, Dittwald, Piotr, Majewski, Tadeusz, Mohan, K Naga, Chen, Bo, Person, Richard E, Tibboel, Dick, de Klein, Annelies, Pinner, Jason, Chopra, Maya, Malcolm, Girvan, Peters, Gregory, Arbuckle, Susan, Guiang, 3rd, Sixto F, Hustead, Virginia A, Jessurun, Jose, Hirsch, Russel, Witte, David P, Maystadt, Isabelle, Sebire, Neil, Fisher, Richard, Langston, Claire, Sen, Partha, Stankiewicz, Paweł

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Case report: Thirty-year progression of an EMPF1 encephalopathy due to defective mitochondrial and peroxisomal fission caused by a novel de novo heterozygous DNM1L variant von Lhuissier, Charlène, Wagner, Bart E., Vincent, Amy, Garraux, Gaëtan, Hougrand, Olivier, Van Coster, Rudy, Benoit, Valerie, Karadurmus, Deniz, Lenaers, Guy, Gueguen, Naïg, Chevrollier, Arnaud, Maystadt, Isabelle

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Case Report: Inactivating PTH/PTHrP Signaling Disorder Type 1 Presenting With PTH Resistance von Demaret, Tanguy, Wintjens, René, Sana, Gwenaelle, Docquir, Joachim, Bertin, Frederic, Ide, Christophe, Monestier, Olivier, Karadurmus, Deniz, Benoit, Valerie, Maystadt, Isabelle

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PREPL deficiency: delineation of the phenotype and development of a functional blood assay von Régal, Luc, Mårtensson, Emma, Maystadt, Isabelle, Voermans, Nicol, Lederer, Damien, Burlina, Alberto, Juan Fita, María Jesús, Hoogeboom, A. Jeannette M., Olsson Engman, Mia, Hollemans, Tess, Schouten, Meyke, Meulemans, Sandra, Jonson, Tord, François, Inge, Gil Ortega, David, Kamsteeg, Erik-Jan, Creemers, John W.M.

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Prescribing sustainability: should UN sustainable development goals be part of the medical, pharmacy, and biomedical education? von Wieërs, Grégoire, Absil, Simon, Maystadt, Isabelle, Nicaise, Charles, Modrie, Pauline, Sibille, François-Xavier, Melly, Ludovic, Dogné, Jean-Michel

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The SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen-Goldberg syndrome von Schepers, Dorien, Doyle, Alexander J, Oswald, Gretchen, Sparks, Elizabeth, Myers, Loretha, Willems, Patrick J, Mansour, Sahar, Simpson, Michael A, Frysira, Helena, Maat-Kievit, Anneke, Van Minkelen, Rick, Hoogeboom, Jeanette M, Mortier, Geert R, Titheradge, Hannah, Brueton, Louise, Starr, Lois, Stark, Zornitza, Ockeloen, Charlotte, Lourenco, Charles Marques, Blair, Ed, Hobson, Emma, Hurst, Jane, Maystadt, Isabelle, Destrée, Anne, Girisha, Katta M, Miller, Michelle, Dietz, Harry C, Loeys, Bart, Van Laer, Lut

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Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1 von Gregor, Anne, Albrecht, Beate, Bader, Ingrid, Bijlsma, Emilia K, Ekici, Arif B, Engels, Hartmut, Hackmann, Karl, Horn, Denise, Hoyer, Juliane, Klapecki, Jakub, Kohlhase, Jürgen, Maystadt, Isabelle, Nagl, Sandra, Prott, Eva, Tinschert, Sigrid, Ullmann, Reinhard, Wohlleber, Eva, Woods, Geoffrey, Reis, André, Rauch, Anita, Zweier, Christiane

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Trisomy rescue mechanism: the case of concomitant mosaic trisomy 14 and maternal uniparental disomy 14 in a 15‐year‐old girl von Balbeur, Samuel, Grisart, Bernard, Parmentier, Benoit, Sartenaer, Daniel, Leonard, Pierre‐Emmanuel, Ullmann, Urielle, Boulanger, Sébastien, Leroy, Luc, Ngendahayo, Placide, Lungu‐Silviu, Constantin, Lysy, Philippe, Maystadt, Isabelle

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Agenesis of olfactory bulbs: A forgotten diagnostic indicator of acampomelic campomelic dysplasia von Debuf, Marie‐Julie, Benoit, Valérie, Cassart, Marie, Gajewska, Kalina, Gauquier, Nathalie, Meunier, Colombine, Rassart, Anne, Maystadt, Isabelle

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Deletion of KDM6A, a Histone Demethylase Interacting with MLL2, in Three Patients with Kabuki Syndrome von Lederer, Damien, Grisart, Bernard, Digilio, Maria Cristina, Benoit, Valérie, Crespin, Marianne, Ghariani, Sophie Claire, Maystadt, Isabelle, Dallapiccola, Bruno, Verellen-Dumoulin, Christine

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IGF1 haploinsufficiency in children with short stature: a case series von Staels, Willem, Alev, Nuriya, Maystadt, Isabelle, Chivu, Olimpia, De Schepper, Jean, Heinrichs, Claudine, Beckers, Dominique

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Clinical Non-penetrance Associated with Biallelic Mutations in the RNase H2 Complex von Crow, Yanick J.

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A mutation update on the LDS‐associated genes TGFB2/3 and SMAD2/3 von Schepers, Dorien, Tortora, Giada, Morisaki, Hiroko, MacCarrick, Gretchen, Lindsay, Mark, Liang, David, Mehta, Sarju G., Hague, Jennifer, Verhagen, Judith, de Laar, Ingrid, Wessels, Marja, Detisch, Yvonne, Haelst, Mieke, Baas, Annette, Lichtenbelt, Klaske, Braun, Kees, der Linde, Denise, Roos‐Hesselink, Jolien, McGillivray, George, Meester, Josephina, Maystadt, Isabelle, Coucke, Paul, El‐Khoury, Elie, Parkash, Sandhya, Diness, Birgitte, Risom, Lotte, Scurr, Ingrid, Hilhorst‐Hofstee, Yvonne, Morisaki, Takayuki, Richer, Julie, Désir, Julie, Kempers, Marlies, Rideout, Andrea L., Horne, Gabrielle, Bennett, Chris, Rahikkala, Elisa, Vandeweyer, Geert, Alaerts, Maaike, Verstraeten, Aline, Dietz, Hal, Laer, Lut, Loeys, Bart

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A second case of Okamoto syndrome caused by HNRNPK mutation von Maystadt, Isabelle, Deprez, Marie, Moortgat, Stéphanie, Benoît, Valérie, Karadurmus, Deniz

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Mutations in COX7B Cause Microphthalmia with Linear Skin Lesions, an Unconventional Mitochondrial Disease von INDRIERI, Alessia, VAN RAHDEN, Vanessa Alexandra, ZVULUNOV, Alex, KUTSCHE, Kerstin, ZEVIANI, Massimo, FRANCO, Brunella, TIRANTI, Valeria, MORLEO, Manuela, IACONIS, Daniela, TAMMARO, Roberta, D'AMATO, Ilaria, CONTE, Ivan, MAYSTADT, Isabelle, DEMUTH, Stephanie

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Bi-allelic variants in DOHH, catalyzing the last step of hypusine biosynthesis, are associated with a neurodevelopmental disorder von Ziegler, Alban, Steindl, Katharina, Hanner, Ashleigh S., Kar, Rajesh Kumar, Prouteau, Clément, Boland, Anne, Deleuze, Jean Francois, Coubes, Christine, Bézieau, Stéphane, Küry, Sébastien, Maystadt, Isabelle, Le Mao, Morgane, Lenaers, Guy, Navet, Benjamin, Faivre, Laurence, Tran Mau-Them, Frédéric, Zanoni, Paolo, Chung, Wendy K., Rauch, Anita, Bonneau, Dominique, Park, Myung Hee

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