The Minimum Data Set for Rare Diseases: Systematic Review von Bernardi, Filipe Andrade, Mello de Oliveira, Bibiana, Bettiol Yamada, Diego, Artifon, Milena, Schmidt, Amanda Maria, Machado Scheibe, Victória, Alves, Domingos, Félix, Têmis Maria

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Clinical and molecular characterization of a Brazilian cohort of campomelic dysplasia patients, and identification of seven new SOX9 mutations von Mattos, Eduardo P, Sanseverino, Maria Teresa V, Magalhães, José Antônio A, Leite, Júlio César L, Félix, Temis Maria, Todeschini, Luiz Alberto, Cavalcanti, Denise P, Schüler-Faccini, Lavinia

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Evaluation of functioning and associated factors in children and adolescents with osteogenesis imperfecta von Fernandes, Arthur Cherem Netto, Félix, Têmis Maria

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Medical Genetics in Brazil in the 21st Century: A Thriving Specialty and Its Incorporation in Public Health Policies von Horovitz, Dafne Dain Gandelman, Félix, Têmis Maria, Ferraz, Victor Evangelista de Faria

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CNOT1 p.Arg535Cys variant in holoprosencephaly with late onset diabetes mellitus von Queiroz Júnior, Amaro Freire, Sanseverino, Maria Teresa Vieira, Collares, Marcus Vinicius Martins, Fornari, Adriana, Virmond, Luiza Amaral, Filho, João Bosco Oliveira, Artigalás, Osvaldo, Félix, Têmis Maria

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Achondroplasia in Latin America: practical recommendations for the multidisciplinary care of pediatric patients von Llerena, Juan, Kim, Chong Ae, Fano, Virginia, Rosselli, Pablo, Collett-Solberg, Paulo Ferrez, de Medeiros, Paula Frassinetti Vasconcelos, del Pino, Mariana, Bertola, Débora, Lourenço, Charles Marques, Cavalcanti, Denise Pontes, Félix, Têmis Maria, Rosa-Bellas, Antonio, Rossi, Norma Teresa, Cortes, Fanny, Abreu, Flávia, Cavalcanti, Nicolette, Ruz, Maria Cecilia Hervias, Baratela, Wagner

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Challenges and recommendations to increasing the use of exome sequencing and whole genome sequencing for diagnosing rare diseases in Brazil: an expert perspective von Félix, Têmis Maria, Fischinger Moura de Souza, Carolina, Oliveira, João Bosco, Rico-Restrepo, Mariana, Zanoteli, Edmar, Zatz, Mayana, Giugliani, Roberto

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A new case of osteogenesis imperfecta type VIII and retinal detachment von Souza, Liliane Todeschini, Nunes, Ricardo Rodrigues, Magalhães, Otavio, Félix, Têmis

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Craniofacial microsomia: Reflections on diagnosis and severity assessment based on a series of cases von Bergamini, Luna Lira, Spineli‐Silva, Samira, Félix, Têmis Maria, Gil‐da‐Silva‐Lopes, Vera L., Vieira, Tarsis P., Ribeiro, Erlane Marques, Xavier, Ana Carolina, Lustosa‐Mendes, Elaine, Fontes, Marshall Ítalo Barros, Monlleó, Isabella L.

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Does universal newborn hearing screening impact the timing of deafness treatment? von Faistauer, Marina, Silva, Alice Lang, Dominguez, Daniela de Oliveira Ruiz, Bohn, Renata, Félix, Têmis Maria, Costa, Sady Selaimen da, Rosito, Letícia Petersen Schmidt

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Health-related quality of life of children and adolescents with osteogenesis imperfecta: a cross-sectional study using PedsQL von Vanz, Ana Paula, van de Sande Lee, Juliana, Pinheiro, Bruna, Zambrano, Marina, Brizola, Evelise, da Rocha, Neusa Sicca, Schwartz, Ida Vanessa D, de Souza Pires, Maria Marlene, Félix, Têmis Maria

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Etiology of early hearing loss in Brazilian children von Faistauer, Marina, Lang Silva, Alice, Félix, Têmis Maria, Todeschini de Souza, Liliane, Bohn, Renata, Selaimen da Costa, Sady, Petersen Schmidt Rosito, Letícia

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22q11.2 Deletion Syndrome: Influence of Parental Origin on Clinical Heterogeneity von de Wallau, Melissa Bittencourt, Xavier, Ana Carolina, Moreno, Carolina Araújo, Kim, Chong Ae, Mendes, Elaine Lustosa, Ribeiro, Erlane Marques, Oliveira, Amanda, Félix, Têmis Maria, Fett-Conte, Agnes Cristina, Bonadia, Luciana Cardoso, Correia-Costa, Gabriela Roldão, Monlleó, Isabella Lopes, Gil-da-Silva-Lopes, Vera Lúcia, Vieira, Társis Paiva

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Genomic imbalances in syndromic congenital heart disease von Molck, Miriam Coelho, Simioni, Milena, Paiva Vieira, Társis, Sgardioli, Ilária Cristina, Paoli Monteiro, Fabíola, Souza, Josiane, Fett-Conte, Agnes Cristina, Félix, Têmis Maria, Lopes Monlléo, Isabella, Gil-da-Silva-Lopes, Vera Lúcia

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Cyclic pamidronate treatment for osteogenesis imperfecta: Report from a Brazilian reference center von Pinheiro, Bruna, Zambrano, Marina B, Vanz, Ana Paula, Brizola, Evelise, Souza, Liliane Todeschini de, Félix, Têmis Maria

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Availability of Genetic Tests in Public Health Services in Brazil: Data from the Brazilian Rare Diseases Network von de Oliveira, Bibiana Mello, Neiva, Mariane Barros, Carvalho, Isabelle, Schwartz, Ida Vanessa Doederlein, Alves, Domingos, Felix, Temis Maria

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Building a National Policy for Rare Disease in Brazil von Félix, Têmis Maria, Oliveira, Bibiana Mello de, Horovitz, Dafne Dain Gandelman

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Osteogenesis imperfecta and hearing loss: an analysis of patients attended at a benchmark treatment center in southern Brazil von da Costa Otavio, Andressa Colares, Teixeira, Adriane Ribeiro, Félix, Temis Maria, Rosito, Letícia Petersen Schimidt, da Costa, Sady Selaimen

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PIGF deficiency causes a phenotype overlapping with DOORS syndrome von Salian, Smrithi, Benkerroum, Hind, Nguyen, Thi Tuyet Mai, Nampoothiri, Sheela, Kinoshita, Taroh, Félix, Têmis Maria, Stewart, Fiona, Sisodiya, Sanjay M., Murakami, Yoshiko, Campeau, Philippe M.

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PD50 Value Of Healthcare Journey For Patients With Rare Diseases In The Brazilian Public Healthcare System: Methods And Preliminary Results von Gargano, Ludmila, Salvador, Bianca Caroline, Santana-da-Silva, Luiz Carlos, Ogata, Gabriel, Nita, Marcelo Eidi, Félix, Têmis Maria

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