New evidence that biallelic loss of function in EEF1B2 gene leads to intellectual disability von Larcher, Lise, Buratti, Julien, Héron‐Longe, Bénédicte, Benzacken, Brigitte, Pipiras, Eva, Keren, Boris, Delahaye‐Duriez, Andrée

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Homozygous STIL mutation causes holoprosencephaly and microcephaly in two siblings von Mouden, Charlotte, de Tayrac, Marie, Dubourg, Christèle, Rose, Sophie, Carré, Wilfrid, Hamdi-Rozé, Houda, Babron, Marie-Claude, Akloul, Linda, Héron-Longe, Bénédicte, Odent, Sylvie, Dupé, Valérie, Giet, Régis, David, Véronique

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Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features von Lamb, Allen N., Rosenfeld, Jill A., Neill, Nicholas J., Talkowski, Michael E., Blumenthal, Ian, Girirajan, Santhosh, Keelean-Fuller, Debra, Fan, Zheng, Pouncey, Jill, Stevens, Cathy, Mackay-Loder, Loren, Terespolsky, Deborah, Bader, Patricia I., Rosenbaum, Kenneth, Vallee, Stephanie E., Moeschler, John B., Ladda, Roger, Sell, Susan, Martin, Judith, Ryan, Shawnia, Jones, Marilyn C., Moran, Rocio, Shealy, Amy, Madan-Khetarpal, Suneeta, McConnell, Juliann, Surti, Urvashi, Delahaye, Andrée, Heron-Longe, Bénédicte, Pipiras, Eva, Benzacken, Brigitte, Passemard, Sandrine, Verloes, Alain, Isidor, Bertrand, Le Caignec, Cedric, Glew, Gwen M., Opheim, Kent E., Descartes, Maria, Eichler, Evan E., Morton, Cynthia C., Gusella, James F., Schultz, Roger A., Ballif, Blake C., Shaffer, Lisa G.

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The RETRIEVE Study: A natural history study of type 2 Gaucher disease, and GM1 and GM2 gangliosidoses with early onset, in preparation of a clinical trial von Heron-Longe, Benedicte, Batzios, Spyros, Mengel, Eugen, Giugliani, Roberto, Patterson, Marc, Gautschi, Matthias, Alcantara, Jose, Cornelisse, Peter, Trokan, Luba, Schwierin, Barbara, Rohrbach, Marianne

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Efficacy and safety of arimoclomol in patients with Niemann-Pick disease type C: Results from a double-blind, randomized placebo-controlled trial with a novel treatment von Patterson, Marc, Mengel, Eugen, Bembi, Bruno, Del Toro, Mireia, Deodato, Federica, Gautschi, Matthias, Grunewald, Stephanie, Grønborg, Sabine, Harmatz, Paul, Heron-Longe, Benedicte, Maier, Esther M., Roubertie, Agathe, Santra, Saikat, Tylki-Szymanska, Anna, Day, Simon, Ingemann, Linda, Petersen, Nikolaj H.T., Jensen, Thomas Kirkegaard, Dali, Christine I.

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Homozygous STIL Mutation Causes Holoprosencephaly and Microcephaly in Two Siblings: e0117418 von Mouden, Charlotte, Tayrac, Marie de, Dubourg, Christele, Rose, Sophie, Carre, Wilfrid, Hamdi-Roze, Houda, Babron, Marie-Claude, Akloul, Linda, Heron-Longe, Benedicte, Odent, Sylvie

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