Multicentric Carpotarsal Osteolysis Is Caused by Mutations Clustering in the Amino-Terminal Transcriptional Activation Domain of MAFB von Zankl, Andreas, Duncan, Emma L., Leo, Paul J., Clark, Graeme R., Glazov, Evgeny A., Addor, Marie-Claude, Herlin, Troels, Kim, Chong Ae, Leheup, Bruno P., McGill, Jim, McTaggart, Steven, Mittas, Stephan, Mitchell, Anna L., Mortier, Geert R., Robertson, Stephen P., Schroeder, Marie, Terhal, Paulien, Brown, Matthew A.

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Associations among genotype, clinical phenotype, and intracellular localization of trafficking proteins in ARC syndrome von Smith, Holly, Galmes, Romain, Gogolina, Ekaterina, Straatman-Iwanowska, Anna, Reay, Kim, Banushi, Blerida, Bruce, Christopher K., Cullinane, Andrew R., Romero, Rene, Chang, Richard, Ackermann, Oanez, Baumann, Clarisse, Cangul, Hakan, Cakmak Celik, Fatma, Aygun, Canan, Coward, Richard, Dionisi-Vici, Carlo, Sibbles, Barbara, Inward, Carol, Ae Kim, Chong, Klumperman, Judith, Knisely, A. S., Watson, Steven P., Gissen, Paul

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Mutations in SRCAP, Encoding SNF2-Related CREBBP Activator Protein, Cause Floating-Harbor Syndrome von Hood, Rebecca L., Lines, Matthew A., Nikkel, Sarah M., Schwartzentruber, Jeremy, Beaulieu, Chandree, Nowaczyk, Małgorzata J.M., Allanson, Judith, Kim, Chong Ae, Wieczorek, Dagmar, Moilanen, Jukka S., Lacombe, Didier, Gillessen-Kaesbach, Gabriele, Whiteford, Margo L., Quaio, Caio Robledo D.C., Gomy, Israel, Bertola, Debora R., Albrecht, Beate, Platzer, Konrad, McGillivray, George, Zou, Ruobing, McLeod, D. Ross, Chudley, Albert E., Chodirker, Bernard N., Marcadier, Janet, Majewski, Jacek, Bulman, Dennis E., White, Susan M., Boycott, Kym M.

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Williams syndrome von Kozel, Beth A., Barak, Boaz, Kim, Chong Ae, Mervis, Carolyn B., Osborne, Lucy R., Porter, Melanie, Pober, Barbara R.

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Clinical characterization of autosomal dominant and recessive variants of Robinow syndrome von Mazzeu, Juliana Forte, Pardono, Eliete, Vianna-Morgante, Angela M., Richieri-Costa, Antônio, Ae Kim, Chong, Brunoni, Décio, Martelli, Lúcia, de Andrade, Carlos Eugênio F., Colin, Guilherme, Otto, Paulo A.

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Morquio‐like dysostosis multiplex presenting with neuronopathic features is a distinct GLB1‐related phenotype von Stockler‐Ipsiroglu, Sylvia, Yazdanpanah, Nahid, Yazdanpanah, Mojgan, Moisa Popurs, Marioara, Yuskiv, Nataliya, Schmitz Ferreira Santos, Mara Lúcia, Ae Kim, Chong, Fischinger Moura de Souza, Carolina, Marques Lourenço, Charles, Steiner, Carlos Eduardo, Federhen, Andressa, Giugliani, Luciana, Bastos Pereira, Débora Maria, Durán‐Carabali, Luz Elena, Giugliani, Roberto

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New insights in mucopolysaccharidosis type VI: Neurological perspective von Borlot, Felippe, Arantes, Paula Ricci, Quaio, Caio Robledo, da Silva Franco, José Francisco, Lourenço, Charles Marques, Bertola, Debora Romeo, Kim, Chong Ae

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Imagawa–Matsumoto syndrome: SUZ12‐related overgrowth disorder von Imagawa, Eri, Seyama, Rie, Aoi, Hiromi, Uchiyama, Yuri, Marcarini, Bruno Guimaraes, Furquim, Isabel, Honjo, Rachel Sayuri, Bertola, Debora Romeo, Kim, Chong Ae, Matsumoto, Naomichi

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Genetic Disorders in Prenatal Onset Syndromic Short Stature Identified by Exome Sequencing von Homma, Thais Kataoka, Freire, Bruna Lucheze, Honjo Kawahira, Rachel Sayuri, Dauber, Andrew, Funari, Mariana Ferreira de Assis, Lerario, Antônio Marcondes, Nishi, Mirian Yumie, Albuquerque, Edoarda Vasco de, Vasques, Gabriela de Andrade, Collett-Solberg, Paulo Ferrez, Miura Sugayama, Sofia Mizuho, Bertola, Debora Romeo, Kim, Chong Ae, Arnhold, Ivo Jorge Prado, Malaquias, Alexsandra Christianne, Jorge, Alexander Augusto de Lima

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A Brazilian case arising from a homozygous canonical splice site SLC35A3 variant leading to an in‐frame deletion von Miyake, Noriko, Oliveira Stephan, Bruno, Kim, Chong Ae, Matsumoto, Naomichi

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Comprehensive genetic analysis of 57 families with clinically suspected Cornelia de Lange syndrome von Aoi, Hiromi, Mizuguchi, Takeshi, Ceroni, José Ricard, Kim, Veronica Eun Hue, Furquim, Isabel, Honjo, Rachel S, Iwaki, Takuma, Suzuki, Toshifumi, Sekiguchi, Futoshi, Uchiyama, Yuri, Azuma, Yoshiteru, Hamanaka, Kohei, Koshimizu, Eriko, Miyatake, Satoko, Mitsuhashi, Satomi, Takata, Atsushi, Miyake, Noriko, Takeda, Satoru, Itakura, Atsuo, Bertola, Débora R, Kim, Chong Ae, Matsumoto, Naomichi

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Mucopolysaccharidosis type I, II and VI and response to enzyme replacement therapy: Results from a single-center case series study von José Francisco da Silva Franco, Dib, Regina El, Agarwal, Arnav, Soares, Diogo, Milhan, Noala Vicensoto Moreira, Albano, Lilian Maria José, Kim, Chong Ae

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Evaluation of 73 Enlisted Patients for Liver Transplant with Unknown Etiology Reveals a Late-Diagnosed Case of Lysosomal Acid Lipase Deficiency von Bastos, Karina Lucio de Medeiros, Stephan, Bruno de Oliveira, Linnenkamp, Bianca Domit Werner, Costa, Larissa Athayde, Lima, Fabiana Roberto, Carvalho, Laura Machado Lara, Honjo, Rachel Sayuri, Tannuri, Uenis, Tannuri, Ana Cristina Aoun, Kim, Chong Ae

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Pathogenic variants detected by RNA sequencing in Cornelia de Lange syndrome von Seyama, Rie, Uchiyama, Yuri, Ceroni, José Ricard Magliocco, Kim, Veronica Eun Hue, Furquim, Isabel, Honjo, Rachel S., Castro, Matheus Augusto Araujo, Pires, Lucas Vieira Lacerda, Aoi, Hiromi, Iwama, Kazuhiro, Hamanaka, Kohei, Fujita, Atsushi, Tsuchida, Naomi, Koshimizu, Eriko, Misawa, Kazuharu, Miyatake, Satoko, Mizuguchi, Takeshi, Makino, Shintaro, Itakura, Atsuo, Bertola, Débora R., Kim, Chong Ae, Matsumoto, Naomichi

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Audiological Characterization of Individuals with Cornelia de Lange Syndrome von Santos, Nayara Pereira, Silva, Liliane Aparecida Fagundes, Neves-Lobo, Ivone Ferreira, Kim, Chong Ae, Matas, Carla Gentile

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Parental segregation study reveals rare benign and likely benign variants in a Brazilian cohort of rare diseases von Quaio, Caio Robledo D.’Angioli Costa, Ceroni, Jose Ricardo Magliocco, Cervato, Murilo Castro, Thurow, Helena Strelow, Moreira, Caroline Monaco, Trindade, Ana Carolina Gomes, Furuzawa, Cintia Reys, de Souza, Rafaela Rogerio Floriano, Perazzio, Sandro Felix, Dutra, Aurelio Pimenta, Chung, Christine Hsiaoyun, Kim, Chong Ae

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Variants in Candidate Genes for Phenotype Heterogeneity in Patients with the 22q11.2 Deletion Syndrome von Nunes, Natalia, Carvalho Nunes, Beatriz, Zamariolli, Malú, Cordeiro de Queiroz Soares, Diogo, Caires dos Santos, Leonardo, Gollo Dantas, Anelisa, Ayres Meloni, Vera, Iole Belangero, Sintia, Gil-Da-Silva-Lopes, Vera Lúcia, Ae Kim, Chong, Melaragno, Maria Isabel

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Expanding the role of SETD5 haploinsufficiency in neurodevelopment and neuroblastoma von Pires, Sara Ferreira, Tolezano, Giovanna Cantini, da Costa, Silvia Souza, Kawahira, Rachel Sayuri Honjo, Kim, Chong Ae, Rosenberg, Carla, Teixeira, Anne Caroline Barbosa, Bertola, Debora Romeo, Krepischi, Ana Cristina Victorino

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Novel CLTC variants cause new brain and kidney phenotypes von Itai, Toshiyuki, Miyatake, Satoko, Tsuchida, Naomi, Saida, Ken, Narahara, Sho, Tsuyusaki, Yu, Castro, Matheus Augusto Araujo, Kim, Chong Ae, Okamoto, Nobuhiko, Uchiyama, Yuri, Koshimizu, Eriko, Hamanaka, Kohei, Fujita, Atsushi, Mizuguchi, Takeshi, Matsumoto, Naomichi

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Mucopolysaccharidosis VII in Brazil: natural history and clinical findings von Giugliani, Roberto, Barth, Anneliese Lopes, Calvao Dumas, Melissa Rossi, da Silva Franco, Jose Francisco, Giuliani, Liane de Rosso, Paiva Grangeiro, Carlos Henrique, Gandelman Horovitz, Dafne Dain, Kim, Chong Ae, de Araujo Leao, Emilia Katiane Embirucu, de Medeiros, Paula Frassinetti Vasconcelos, Geraldo Miguel, Diego Santana Chaves, Santo Almeida Moreira, Maria Espirito, Guimaraes Pimentel dos Santos, Helena Maria, Santana da Silva, Luiz Carlos, da Silva, Luiz Roberto, de Souza, Isabel Neves, Nalin, Tatiele, Garcia, Daniel

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