Are heterozygous carriers for hereditary fructose intolerance predisposed to metabolic disturbances when exposed to fructose? von Debray, François-Guillaume, Damjanovic, Katarina, Rosset, Robin, Mittaz-Crettol, Lauréane, Roux, Clothilde, Braissant, Olivier, Barbey, Frédéric, Bonafé, Luisa, De Bandt, Jean-Pascal, Tappy, Luc, Paquot, Nicolas, Tran, Christel

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Brief Report: Peripheral Osteolysis in Adults Linked to ASAH1 (Acid Ceramidase) Mutations: A New Presentation of Farber's Disease von Bonafé, Luisa, Kariminejad, Ariana, Li, Jia, Royer‐Bertrand, Beryl, Garcia, Virginie, Mahdavi, Shokouholsadat, Bozorgmehr, Bita, Lachman, Ralph L., Mittaz‐Crettol, Lauréane, Campos‐Xavier, Belinda, Nampoothiri, Sheela, Unger, Sheila, Rivolta, Carlo, Levade, Thierry, Superti‐Furga, Andrea

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Peripheral neuropathy and cognitive impairment associated with a novel monoallelic HARS variant von Royer‐Bertrand, Béryl, Tsouni, Pinelopi, Mullen, Patrick, Campos Xavier, Belinda, Mittaz Crettol, Lauréane, Lobrinus, Alexander J., Ghika, Joseph, Baumgartner, Matthias R., Rivolta, Carlo, Superti‐Furga, Andrea, Kuntzer, Thierry, Francklyn, Christopher, Tran, Christel

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Clinical and radiographic findings in two brothers affected with a novel mutation in matrix metalloproteinase 2 gene von Gok, Faysal, Crettol, Lauréane Mittaz, Alanay, Yasemin, Hacıhamdioglu, Bulent, Kocaoglu, Murat, Bonafe, Luisa, Ozen, Seza

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Identification of novel LFNG mutations in spondylocostal dysostosis von Otomo, Nao, Mizumoto, Shuji, Lu, Hsing-Fang, Takeda, Kazuki, Campos-Xavier, Belinda, Mittaz-Crettol, Lauréane, Guo, Long, Takikawa, Kazuharu, Nakamura, Masaya, Yamada, Shuhei, Matsumoto, Morio, Watanabe, Kota, Ikegawa, Shiro

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Aire-Deficient C57BL/6 Mice Mimicking the Common Human 13-Base Pair Deletion Mutation Present with Only a Mild Autoimmune Phenotype von Hubert, Francois-Xavier, Kinkel, Sarah A, Crewther, Pauline E, Cannon, Ping Z. F, Webster, Kylie E, Link, Maire, Uibo, Raivo, O'Bryan, Moira K, Meager, Anthony, Forehan, Simon P, Smyth, Gordon K, Mittaz, Laureane, Antonarakis, Stylianos E, Peterson, Part, Heath, William R, Scott, Hamish S

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Mutations in the Heparan-Sulfate Proteoglycan Glypican 6 (GPC6) Impair Endochondral Ossification and Cause Recessive Omodysplasia von Campos-Xavier, Ana Belinda, Martinet, Danielle, Bateman, John, Belluoccio, Dan, Rowley, Lynn, Tan, Tiong Yang, Baxová, Alica, Gustavson, Karl-Henrik, Borochowitz, Zvi U., Innes, A. Micheil, Unger, Sheila, Beckmann, Jacques S., Mittaz, Lauréane, Ballhausen, Diana, Superti-Furga, Andrea, Savarirayan, Ravi, Bonafé, Luisa

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Developmental disorder and spastic paraparesis in two sisters with a TCF7L2 truncating variant inherited from a mosaic mother von Royer‐Bertrand, Beryl, Lebon, Sébastien, Craig, Ailsa, Maeder, Johanna, Mittaz‐Crettol, Laureane, Fodstad, Heidi, Superti‐Furga, Andrea, Good, Jean‐Marc

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Common Mutations in Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy Patients of Different Origins von Scott, Hamish S, Heino, Maarit, Peterson, Pärt, Mittaz, Lauréane, Lalioti, Maria D, Betterle, Corrado, Cohen, Amnon, Seri, Marco, Lerone, Margherita, Romeo, Giovanni, Collin, Pekka, Salo, Matti, Metcalfe, Russell, Weetman, Anthony, Papasavvas, Marie-Pierre, Rossier, Colette, Nagamine, Kentaro, Kudoh, Jun, Shimizu, Nobuyoshi, Krohn, Kai J. E, Antonarakis, Stylianos E

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Pseudoachondroplasia and multiple epiphyseal dysplasia: A 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate a... von Jackson, Gail C., Mittaz-Crettol, Laureane, Taylor, Jacqueline A., Mortier, Geert R., Spranger, Juergen, Zabel, Bernhard, Le Merrer, Martine, Cormier-Daire, Valerie, Hall, Christine M., Offiah, Amaka, Wright, Michael J., Savarirayan, Ravi, Nishimura, Gen, Ramsden, Simon C., Elles, Rob, Bonafe, Luisa, Superti-Furga, Andrea, Unger, Sheila, Zankl, Andreas, Briggs, Michael D.

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L-serine deficiency: on the properties of the Asn133Ser variant of human phosphoserine phosphatase von Pollegioni, Loredano, Campanini, Barbara, Good, Jean-Marc, Motta, Zoraide, Murtas, Giulia, Buoli Comani, Valeria, Pavlidou, Despina-Christina, Mercier, Noëlle, Mittaz-Crettol, Laureane, Sacchi, Silvia, Marchesani, Francesco

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Partially redundant functions of Adamts1 and Adamts4 in the perinatal development of the renal medulla von Boerboom, Derek, Lafond, Jean‐François, Zheng, Xiaofeng, Lapointe, Evelyne, Mittaz, Laureane, Boyer, Alexandre, Pritchard, Melanie A., DeMayo, Francesco J., Mort, John S., Drolet, Richard, Richards, Joanne S.

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Preselection of cases through expert clinical and radiological review significantly increases mutation detection rate in multiple epiphyseal dysplasia von ZANKL, Andreas, JACKSON, Gail C, CORMIER-DAIRE, Valerie, HALL, Christine M, WRIGHT, Michael J, BONAFE, Luisa, SUPERTI-FURGA, Andrea, BRIGGS, Michael D, MITTAZ CRETTOL, Laureane, TAYLOR, Jacky, ELLES, Rob, MORTIER, Geert R, SPRANGER, Jurgen, ZABEL, Bernhard, UNGER, Sheila, LE MERRER, Martine

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Phenotypic and molecular characterization of a novel case of dyssegmental dysplasia, Silverman-Handmaker type von Rieubland, Claudine, Jacquemont, Sebastien, Mittaz, Laureane, Osterheld, Maria-Chiara, Vial, Yvan, Superti-Furga, Andrea, Unger, Sheila, Bonafé, Luisa

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CNV Detection from Exome Sequencing Data in Routine Diagnostics of Rare Genetic Disorders: Opportunities and Limitations von Royer-Bertrand, Beryl, Cisarova, Katarina, Niel-Butschi, Florence, Mittaz-Crettol, Laureane, Fodstad, Heidi, Superti-Furga, Andrea

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Peripheral neuropathy and cognitive impairment associated with a novel monoallelic HARS variant von Royer‐Bertrand, Béryl, Tsouni, Pinelopi, Mullen, Patrick, Campos Xavier, Belinda, Mittaz Crettol, Lauréane, Lobrinus, Alexander J, Ghika, Joseph, Baumgartner, Matthias R, Rivolta, Carlo, Superti‐Furga, Andrea, Kuntzer, Thierry, Francklyn, Christopher, Tran, Christel

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Isolation and characterization of the mouse Aire gene von Mittaz, L, Rossier, C, Heino, M, Peterson, P, Krohn, K J, Gos, A, Morris, M A, Kudoh, J, Shimizu, N, Antonarakis, S E, Scott, H S

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DSCR1/RCAN1 regulates vesicle exocytosis and fusion pore kinetics: implications for Down syndrome and Alzheimer's disease von Keating, Damien J., Dubach, Daphne, Zanin, Mark P., Yu, Yong, Martin, Katherine, Zhao, Yu-Feng, Chen, Chen, Porta, Sílvia, Arbonés, Maria L., Mittaz, Laureane, Pritchard, Melanie A.

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Extracellular matrix and platelet function in patients with musculocontractural Ehlers-Danlos syndrome caused by mutations in the CHST14 gene von Mendoza-Londono, Roberto, Chitayat, David, Kahr, Walter H.A., Hinek, Aleksander, Blaser, Susan, Dupuis, Lucie, Goh, Elaine, Badilla-Porras, Ramses, Howard, Andrew, Mittaz, Laureane, Superti-Furga, Andrea, Unger, Sheila, Nishimura, Gen, Bonafe, Luisa

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Dyssegmental dysplasia, Silverman-Handmaker type: prenatal ultrasound findings and molecular analysis von Ladhani, Noor Niyar N., Chitayat, David, Nezarati, Marjan M., Laureane, Mittaz Crettol, Keating, Sarah, Silver, Rachel J., Unger, Sheila, Velsher, Lea, Sirkin, Wilma, Toi, Ants, Glanc, Phyllis

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