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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Caractérisation des effets ophtalmiques du syndrome de Cohen chez des souris VPS13B-/- et identification des mécanismes moléculaires impliqué dans la pathogenèse von Lhussiez, Vincent

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Identification des bases moléculaires et physiopathologiques des syndromes oro-facio-digitaux von Bruel, Ange-Line

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Increased diagnostic and new genes identification outcome using research reanalysis of singleton exome sequencing von Bruel, Ange-Line, Nambot, Sophie, Quéré, Virginie, Vitobello, Antonio, Thevenon, Julien, Assoum, Mirna, Moutton, Sébastien, Houcinat, Nada, Lehalle, Daphné, Jean-Marçais, Nolwenn, Chevarin, Martin, Jouan, Thibaud, Poë, Charlotte, Callier, Patrick, Tisserand, Emilie, Philippe, Christophe, Them, Frédéric Tran Mau, Duffourd, Yannis, Faivre, Laurence, Thauvin-Robinet, Christel

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Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysis von Nambot, Sophie, Thevenon, Julien, Kuentz, Paul, Duffourd, Yannis, Tisserant, Emilie, Bruel, Ange-Line, Mosca-Boidron, Anne-Laure, Masurel-Paulet, Alice, Lehalle, Daphné, Jean-Marçais, Nolwenn, Lefebvre, Mathilde, Vabres, Pierre, El Chehadeh-Djebbar, Salima, Philippe, Christophe, Tran Mau-Them, Frederic, St-Onge, Judith, Jouan, Thibaud, Chevarin, Martin, Poé, Charlotte, Carmignac, Virginie, Vitobello, Antonio, Callier, Patrick, Rivière, Jean-Baptiste, Faivre, Laurence, Thauvin-Robinet, Christel

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Early psychosis in Thauvin‐Robinet‐Faivre syndrome, a complication of the disease? von Andreou, Yanni, Thauvin‐Robinet, Christel, Martin, Juliette, Faivre, Laurence, Granon, Ophélie

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