A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling by Wieczorek, Dagmar, Bögershausen, Nina, Beleggia, Filippo, Steiner-Haldenstätt, Sabine, Pohl, Esther, Li, Yun, Milz, Esther, Martin, Marcel, Thiele, Holger, Altmüller, Janine, Alanay, Yasemin, Kayserili, Hülya, Klein-Hitpass, Ludger, Böhringer, Stefan, Wollstein, Andreas, Albrecht, Beate, Boduroglu, Koray, Caliebe, Almuth, Chrzanowska, Krystyna, Cogulu, Ozgur, Cristofoli, Francesca, Czeschik, Johanna Christina, Devriendt, Koenraad, Dotti, Maria Teresa, Elcioglu, Nursel, Gener, Blanca, Goecke, Timm O, Krajewska-Walasek, Malgorzata, Guillén-Navarro, Encarnación, Hayek, Joussef, Houge, Gunnar, Kilic, Esra, Simsek-Kiper, Pelin Özlem, López-González, Vanesa, Kuechler, Alma, Lyonnet, Stanislas, Mari, Francesca, Marozza, Annabella, Mathieu Dramard, Michèle, Mikat, Barbara, Morin, Gilles, Morice-Picard, Fanny, Ozkinay, Ferda, Rauch, Anita, Renieri, Alessandra, Tinschert, Sigrid, Utine, G Eda, Vilain, Catheline, Vivarelli, Rossella, Zweier, Christiane, Nürnberg, Peter, Rahmann, Sven, Vermeesch, Joris, Lüdecke, Hermann-Josef, Zeschnigk, Michael, Wollnik, Bernd

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Non-hotspot PIK3CA mutations are more frequent in CLOVES than in common or combined lymphatic malformations by Brouillard, Pascal, Schlögel, Matthieu J, Homayun Sepehr, Nassim, Helaers, Raphaël, Queisser, Angela, Fastré, Elodie, Boutry, Simon, Schmitz, Sandra, Clapuyt, Philippe, Hammer, Frank, Dompmartin, Anne, Weitz-Tuoretmaa, Annamaria, Laranne, Jussi, Pasquesoone, Louise, Vilain, Catheline, Boon, Laurence M, Vikkula, Miikka

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Truncating RAX Mutations: Anophthalmia, Hypopituitarism, Diabetes Insipidus, and Cleft Palate in Mice and Men by Brachet, Cécile, Kozhemyakina, Elena A, Boros, Emese, Heinrichs, Claudine, Balikova, Irina, Soblet, Julie, Smits, Guillaume, Vilain, Catheline, Mathers, Peter H

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The Retina in Patients With Triple A Syndrome: A Window Into Neurodegeneration? by Ulgiati, Fiorenza, Lhoir, Sophie, Balikova, Irina, Tenoutasse, Sylvie, Boros, Emese, Vilain, Catheline, Heinrichs, Claudine, Brachet, Cécile

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Acquired Zinc Deficiency Mimicking Acrodermatitis Enteropathica in a Breast-Fed Premature Infant by D’Amico, Giovanna, De Laet, Corinne, Smits, Guillaume, Salik, Deborah, Deprez, Guillaume, Vilain, Catheline, Perlot, Pascale, Vicinanza, Alfredo

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Carbamazepine efficacy in a severe electro‐clinical presentation of SLC13A5‐epilepsy by Santalucia, Roberto, Vilain, Catheline, Soblet, Julie, De Laet, Corinne, Vuckovic, Aline, König, Jörg, Aeby, Alec

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Novel promoters and coding first exons in DLG2 linked to developmental disorders and intellectual disability by Reggiani, Claudio, Coppens, Sandra, Sekhara, Tayeb, Dimov, Ivan, Pichon, Bruno, Lufin, Nicolas, Addor, Marie-Claude, Belligni, Elga Fabia, Digilio, Maria Cristina, Faletra, Flavio, Ferrero, Giovanni Battista, Gerard, Marion, Isidor, Bertrand, Joss, Shelagh, Niel-Bütschi, Florence, Perrone, Maria Dolores, Petit, Florence, Renieri, Alessandra, Romana, Serge, Topa, Alexandra, Vermeesch, Joris Robert, Lenaerts, Tom, Casimir, Georges, Abramowicz, Marc, Bontempi, Gianluca, Vilain, Catheline, Deconinck, Nicolas, Smits, Guillaume

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A prenatal case of lissencephaly with cerebellar hypoplasia: New mutation in RELN gene by Balza, Claire, Garofalo, Giulia, Cos, Teresa, Désir, Julie, Kang, Xin, Keymolen, Kathelijn, Soblet, Julie, Van Berkel, Kim, Vilain, Catheline, Ben Abbou, Wafa, Cassart, Marie

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Phenotypes and genotypes in non‐consanguineous and consanguineous primary microcephaly: High incidence of epilepsy by Duerinckx, Sarah, Désir, Julie, Perazzolo, Camille, Badoer, Cindy, Jacquemin, Valérie, Soblet, Julie, Maystadt, Isabelle, Tunca, Yusuf, Blaumeiser, Bettina, Ceulemans, Berten, Courtens, Winnie, Debray, François‐Guillaume, Destree, Anne, Devriendt, Koenraad, Jansen, Anna, Keymolen, Kathelijn, Lederer, Damien, Loeys, Bart, Meuwissen, Marije, Moortgat, Stéphanie, Mortier, Geert, Nassogne, Marie‐Cécile, Sekhara, Tayeb, Van Coster, Rudy, Van Den Ende, Jenny, Van der Aa, Nathalie, Van Esch, Hilde, Vanakker, Olivier, Verhelst, Helene, Vilain, Catheline, Weckhuysen, Sarah, Passemard, Sandrine, Verloes, Alain, Aeby, Alec, Deconinck, Nicolas, Van Bogaert, Patrick, Pirson, Isabelle, Abramowicz, Marc

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A Familial Heterozygous Null Mutation of MET in Autism Spectrum Disorder by Lambert, Nelle, Wermenbol, Vanessa, Pichon, Bruno, Acosta, Sandra, van den Ameele, Jelle, Perazzolo, Camille, Messina, Diana, Musumeci, Maria-Franca, Dessars, Barbara, De Leener, Anne, Abramowicz, Marc, Vilain, Catheline

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First Report on Fetal Cerebral Polyglucosan Bodies in Mucopolysaccharidosis Type VII by Désir, Julie, Vilain, Catheline, Segers, Valérie, Kadhim, Hazim, D’Haene, Nicky

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Hypothyroidism due to biallelic variants in IYD: description of 4 families and a novel variant by Boros, Emese, Vilain, Catheline, Driessens, Natacha, Heinrichs, Claudine, Van Vliet, Guy, Brachet, Cécile

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Hartsfield holoprosencephaly–ectrodactyly syndrome in five male patients: Further delineation and review by Vilain, Catheline, Mortier, Geert, Van Vliet, Guy, Dubourg, Christèle, Heinrichs, Claudine, de Silva, Deephti, Verloes, Alain, Baumann, Clarisse

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Two siblings with Bosch-Boonstra-Schaaf optic atrophy syndrome due to parental gonadal mosaicism by van Renterghem, Victoria, Vilain, Catheline, Devriendt, Koenraad, Casteels, Ingele, Smits, Guillaume, Soblet, Julie, Balikova, Irina

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New variant in deficiency of interleukin‐36 receptor antagonist syndrome (DITRA) by Salik, Déborah, Zoghaib, Samer, Dangoisse, Chantal, Sass, Ursula, Kolivras, Athanasios, Soblet, Julie, Vilain, Catheline

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Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency by Lovric, Svjetlana, Goncalves, Sara, Gee, Heon Yung, Oskouian, Babak, Srinivas, Honnappa, Choi, Won-Il, Shril, Shirlee, Ashraf, Shazia, Tan, Weizhen, Rao, Jia, Airik, Merlin, Schapiro, David, Braun, Daniela A, Sadowski, Carolin E, Widmeier, Eugen, Jobst-Schwan, Tilman, Schmidt, Johanna Magdalena, Girik, Vladimir, Capitani, Guido, Suh, Jung H, Lachaussée, Noëlle, Arrondel, Christelle, Patat, Julie, Gribouval, Olivier, Furlano, Monica, Boyer, Olivia, Schmitt, Alain, Vuiblet, Vincent, Hashmi, Seema, Wilcken, Rainer, Bernier, Francois P, Innes, A Micheil, Parboosingh, Jillian S, Lamont, Ryan E, Midgley, Julian P, Wright, Nicola, Majewski, Jacek, Zenker, Martin, Schaefer, Franz, Kuss, Navina, Greil, Johann, Giese, Thomas, Schwarz, Klaus, Catheline, Vilain, Schanze, Denny, Franke, Ingolf, Sznajer, Yves, Truant, Anne S, Adams, Brigitte, Désir, Julie, Biemann, Ronald, Pei, York, Ars, Elisabet, Lloberas, Nuria, Madrid, Alvaro, Dharnidharka, Vikas R, Connolly, Anne M, Willing, Marcia C, Cooper, Megan A, Lifton, Richard P, Simons, Matias, Riezman, Howard, Antignac, Corinne, Saba, Julie D, Hildebrandt, Friedhelm

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Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1 , and ADAR : a case-control study... by Rice, Gillian I, PhD, Forte, Gabriella M A, MPhil, Szynkiewicz, Marcin, MSc, Chase, Diana S, PhD, Aeby, Alec, MD, Abdel-Hamid, Mohamed S, MSc, Ackroyd, Sam, MB ChB, Allcock, Rebecca, FRCPath, Bailey, Kathryn M, MRCPCH, Balottin, Umberto, MD, Barnerias, Christine, MD, Bernard, Genevieve, MD, Bodemer, Christine, PhD, Botella, Maria P, MD, Cereda, Cristina, PhD, Chandler, Kate E, MD, Dabydeen, Lyvia, MRCPCH, Dale, Russell C, PhD, De Laet, Corinne, MD, De Goede, Christian G E L, FRCPCH, del Toro, Mireia, MD, Effat, Laila, PhD, Enamorado, Noemi Nunez, MD, Fazzi, Elisa, MD, Gener, Blanca, MD, Haldre, Madli, BSc, Lin, Jean-Pierre S-M, PhD, Livingston, John H, MB ChB, Lourenco, Charles Marques, MD, Marques, Wilson, MD, Oades, Patrick, FRCPCH, Peterson, Pärt, PhD, Rasmussen, Magnhild, MD, Roubertie, Agathe, MD, Schmidt, Johanna Loewenstein, CGC, Shalev, Stavit A, MD, Simon, Rogelio, MD, Spiegel, Ronen, MD, Swoboda, Kathryn J, FACMG, Temtamy, Samia A, PhD, Vassallo, Grace, MD, Vilain, Catheline N, MD, Vogt, Julie, MRCP, Wermenbol, Vanessa, MD, Whitehouse, William P, FRCPCH, Soler, Doriette, MD, Olivieri, Ivana, MD, Orcesi, Simona, MD, Aglan, Mona S, PhD, Zaki, Maha S, PhD, Abdel-Salam, Ghada M H, PhD, Vanderver, Adeline, MD, Kisand, Kai, PhD, Rozenberg, Flore, MD, Lebon, Pierre, MD, Crow, Yanick J, Prof

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Comprehensive evaluation of the implementation of episignatures for diagnosis of neurodevelopmental disorders (NDDs) by Giuili, Edoardo, Grolaux, Robin, Macedo, Catarina Z. N. M., Desmyter, Laurence, Pichon, Bruno, Neuens, Sebastian, Vilain, Catheline, Olsen, Catharina, Van Dooren, Sonia, Smits, Guillaume, Defrance, Matthieu

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Ehlers‐Danlos/myopathy overlap syndrome caused by a large de novo deletion in COL12A1 by Coppens, Sandra, Desmyter, Laurence, Koch, Manuel, Özcelik, Semra, O'Heir, Emily, Van Bogaert, Patrick, Vilain, Catheline, Christiaens, Florence

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Nephrogenic syndrome of inappropriate antidiuresis in adults : High phenotypic variability in men and women from a large pedigree by DECAUX, Guy, VANDERGHEYNST, Frederic, BOUKO, Yasmina, PARMA, Jasmine, VASSART, Gilbert, VILAIN, Catheline

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