Application of whole‐exome sequencing to unravel the molecular basis of undiagnosed syndromic congenital neutropenia with intellectual disability von Gauthier‐Vasserot, Alexandra, Thauvin‐Robinet, Christel, Bruel, Ange‐Line, Duffourd, Yannis, St‐Onge, Judith, Jouan, Thibaud, Rivière, Jean‐Baptiste, Heron, Delphine, Donadieu, Jean, Bellanné‐Chantelot, Christine, Briandet, Claire, Huet, Frédéric, Kuentz, Paul, Lehalle, Daphné, Duplomb‐Jego, Laurence, Gautier, Elodie, Maystadt, Isabelle, Pinson, Lucile, Amram, Daniel, El Chehadeh, Salima, Melki, Judith, Julia, Sophia, Faivre, Laurence, Thevenon, Julien

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Homozygous FIBP nonsense variant responsible of syndromic overgrowth, with overgrowth, macrocephaly, retinal coloboma and learning disabilities von Thauvin-Robinet, C., Duplomb-Jego, L., Limoge, F., Picot, D., Masurel, A., Terriat, B., Champilou, C., Minot, D., St-Onge, J., Kuentz, P., Duffourd, Y., Thevenon, J., Rivière, J.-B., Faivre, L.

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Lysosomal Signaling Licenses Embryonic Stem Cell Differentiation via Inactivation of Tfe3 von Villegas, Florian, Lehalle, Daphné, Mayer, Daniela, Rittirsch, Melanie, Stadler, Michael B., Zinner, Marietta, Olivieri, Daniel, Vabres, Pierre, Duplomb-Jego, Laurence, De Bont, Eveline S.J.M., Duffourd, Yannis, Duijkers, Floor, Avila, Magali, Geneviève, David, Houcinat, Nada, Jouan, Thibaud, Kuentz, Paul, Lichtenbelt, Klaske D., Thauvin-Robinet, Christel, St-Onge, Judith, Thevenon, Julien, van Gassen, Koen L.I., van Haelst, Mieke, van Koningsbruggen, Silvana, Hess, Daniel, Smallwood, Sebastien A., Rivière, Jean-Baptiste, Faivre, Laurence, Betschinger, Joerg

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STAG1 mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability von Lehalle, Daphné, Mosca-Boidron, Anne-Laure, Begtrup, Amber, Boute-Benejean, Odile, Charles, Perrine, Cho, Megan T, Clarkson, Amanda, Devinsky, Orrin, Duffourd, Yannis, Duplomb-Jego, Laurence, Gérard, Bénédicte, Jacquette, Aurélia, Kuentz, Paul, Masurel-Paulet, Alice, McDougall, Carey, Moutton, Sébastien, Olivié, Hilde, Park, Soo-Mi, Rauch, Anita, Revencu, Nicole, Rivière, Jean-Baptiste, Rubin, Karol, Simonic, Ingrid, Shears, Deborah J, Smol, Thomas, Taylor Tavares, Ana Lisa, Terhal, Paulien, Thevenon, Julien, Van Gassen, Koen, Vincent-Delorme, Catherine

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Autosomal recessive IFT57 hypomorphic mutation cause ciliary transport defect in unclassified oral-facial-digital syndrome with short stature and brachymesophalangia von Thevenon, J., Duplomb, L., Phadke, S., Eguether, T., Saunier, A., Avila, M., Carmignac, V., Bruel, A.-L., St-Onge, J., Duffourd, Y., Pazour, G.J., Franco, B., Attie-Bitach, T., Masurel-Paulet, A., Rivière, J.-B., Cormier-Daire, V., Philippe, C., Faivre, L., Thauvin-Robinet, C.

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