X‐linked congenital adrenal hypoplasia: Report of long clinical follow‐up and description of a new complex variant in the NR0B1 gene von Esquiaveto‐Aun, Adriana Mangue, Mello, Maricilda Palandi, Guaragna, Mara Sanches, Silva Lopes, Vera Lúcia Gil, Francese‐Santos, Ana Paula, Santos Cruz Piveta, Cristiane, Mazolla, Taís Nitsh, Lemos‐Marini, Sofia Helena Valente, Guerra‐Junior, Gil

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Low‐pass whole genome sequencing as a cost‐effective alternative to chromosomal microarray analysis for low‐ and middle‐income countries von Mazzonetto, Patricia C., Villela, Darine, Krepischi, Ana C. V., Pierry, Paulo M., Bonaldi, Adriano, Almeida, Luiz Gustavo D., Paula, Marcelo G., Bürger, Matheus Carvalho, Oliveira, Ana Gabriela, Fonseca, Gustavo G. G., Giugliani, Roberto, Riegel‐Giugliani, Mariluce, Bertola, Débora, Yamamoto, Guilherme Lopes, Passos‐Bueno, Maria Rita, Campos, Gabriele da Silva, Machado, Ana Claudia Dantas, Mazzeu, Juliana F., Perrone, Eduardo, Zechi‐Ceide, Roseli M., Kokitsu‐Nakata, Nancy M., Vieira, Társis Paiva, Steiner, Carlos Eduardo, Gil‐da‐Silva‐Lopes, Vera Lúcia, Vieira, Daniela Koeller Rodrigues, Boy, Raquel, Pina‐Neto, João Monteiro, Scapulatempo‐Neto, Cristovam, Milanezi, Fernanda, Rosenberg, Carla

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Familial Aggregation of Childhood‐ and Adulthood‐Onset Systemic Lupus Erythematosus von Sinicato, Nailú Angélica, Oliveira, Luciana, Lapa, AlineTamires, Postal, Mariana, Peliçari, Karinade Oliveira, Costallat, Lilian T. L., Marini, Roberto, Gil‐da‐Silva‐Lopes, Vera Lúcia, Niewold, Timothy B., Appenzeller, Simone

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Biallelic frameshift variant in the TBC1D2B gene in two siblings with progressive gingival overgrowth, fibrous dysplasia of face, and mental deterioration von Correia‐Costa, Gabriela Roldão, Leeuw, Nicole, Pfundt, Rolph, Sgardioli, Ilária Cristina, Santos, Ana Paula, Lima Santos, Marilza, Gil‐da‐Silva‐Lopes, Vera Lúcia, Vieira, Társis Paiva

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Pure 21q22.3 deletion identified in a patient with mild phenotypic features von Sgardioli, Ilária Cristina, Copelli, Matheus de Melo, Lustosa‐Mendes, Elaine, Vieira, Társis Paiva, Gil‐da‐Silva‐Lopes, Vera Lúcia

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Defining new guidelines for screening the 22q11.2 deletion based on a clinical and dysmorphologic evaluation of 194 individuals and review of the literature von Monteiro, Fabíola P., Vieira, Társis P., Sgardioli, Ilária C., Molck, Miriam C., Damiano, Ana Paula, Souza, Josiane, Monlleó, Isabella L., Fontes, Marshall I. B., Fett-Conte, Agnes C., Félix, Têmis M., Leal, Gabriela F., M.Ribeiro, Erlane, Banzato, Claudio E. M., Dantas, Clarissa de R., Lopes-Cendes, Iscia, Gil-da-Silva-Lopes, Vera Lúcia

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Demographic history differences between Hispanics and Brazilians imprint haplotype features von da Cruz, Pedro Rodrigues Sousa, Ananina, Galina, Secolin, Rodrigo, Gil-da-Silva-Lopes, Vera Lúcia, Lima, Carmen Silvia Passos, de França, Paulo Henrique Condeixa, Donatti, Amanda, Lourenço, Gustavo Jacob, de Araujo, Tânia Kawasaki, Simioni, Milena, Lopes-Cendes, Iscia, Costa, Fernando Ferreira, de Melo, Mônica Barbosa

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A recognizable phenotype related to 19p13.12 microdeletion von de Souza, Laiara Cristina, Sgardioli, Ilária Cristina, Gil‐da‐Silva‐Lopes, Vera Lúcia, Vieira, Társis Paiva

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Comprehensive insights into health services accessibility and quality of life of families with individuals with 22q11.2 deletion syndrome in Brazil von Silva, Isabela Mayá Wayhs, Gil-da-Silva-Lopes, Vera Lúcia

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An overview of the trajectory of Brazilian individuals with 22q11.2 deletion syndrome until diagnosis von Silva, Isabela Mayá Wayhs, Gil-da-Silva-Lopes, Vera Lúcia

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Brazilian growth charts for Williams–Beuren Syndrome at ages 2 to 18 years von Strafacci, Amanda de Sousa Lima, Bertapelli, Fabio, Kim, Chong Ae, Rivadeneira, Maria José, Honjo, Rachel Sayuri, Domenici Kulikowski, Leslie, Ferreira, Danilo Moretti, Batista, Letícia Cassimiro, Lopes, Vera Lúcia Gil da Silva, Guerra Junior, Gil

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How are people with orofacial clefts attended in northwest region of São Paulo state, Brazil? von Francisquetti, Marina Cristine Cano, Gil-da-Silva-Lopes, Vera Lúcia, Fett-Conte, Agnes Cristina

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A Novel Look at Dosage-Sensitive Sex Locus Xp21.2 in a Case of 46,XY Partial Gonadal Dysgenesis without NR0B1 Duplication von Francese-Santos, Ana Paula, Meinel, Jakob A, Piveta, Cristiane S C, Andrade, Juliana G R, Barros, Beatriz A, Fabbri-Scallet, Helena, Gil-da-Silva-Lopes, Vera Lúcia, Guerra-Junior, Gil, Künstner, Axel, Busch, Hauke, Hiort, Olaf, de Mello, Maricilda P, Werner, Ralf, Maciel-Guerra, Andréa T

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Copy number variation in the susceptibility to systemic lupus erythematosus von Barbosa, Fernanda Bueno, Simioni, Milena, Wiezel, Cláudia Emília Vieira, Torres, Fábio Rossi, Molck, Miriam Coelho, Bonilla, Melvin M, de Araujo, Tânia Kawasaki, Donadi, Eduardo Antônio, Gil-da-Silva-Lopes, Vera Lúcia, Lemos, Bernardo, Simões, Aguinaldo Luiz

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Testing criteria for 22q11.2 deletion syndrome: preliminary results of a low cost strategy for public health von Sgardioli, Ilária Cristina, Paoli Monteiro, Fabíola, Fanti, Paulo, Paiva Vieira, Társis, Gil-da-Silva-Lopes, Vera Lúcia

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Anomalias craniofaciais: descrição e avaliação das características gerais da atenção no Sistema Único de Saúde von Monlleó, Isabella Lopes, Gil-da-Silva-Lopes, Vera Lúcia

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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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Increased runs of homozygosity in the autosomal genome of Brazilian individuals with neurodevelopmental delay/intellectual disability and/or multiple congenital anomalies investiga... von Correia-Costa, Gabriela Roldão, Sgardioli, Ilária Cristina, Santos, Ana Paula Dos, Araujo, Tânia Kawasaki de, Secolin, Rodrigo, Lopes-Cendes, Iscia, Gil-da-Silva-Lopes, Vera Lúcia, Vieira, Társis Paiva

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Insertional translocation of 15q25‐q26 into 11p13 and duplication at 8p23.1 characterized by high resolution arrays in a boy with congenital malformations and aniridia von Simioni, Milena, Vieira, Társis Paiva, Sgardioli, Ilária Cristina, Freitas, Érika Lopes, Rosenberg, Carla, Maurer‐Morelli, Cláudia Vianna, Lopes‐Cendes, Iscia, Fett‐Conte, Agnes Cristina, Gil‐da‐Silva‐Lopes, Vera Lúcia

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A multicentric association study between 39 genes and nonsyndromic cleft lip and palate in a Brazilian population von Araujo, Tânia Kawasaki de, Secolin, Rodrigo, Félix, Têmis Maria, Souza, Liliane Todeschini de, Fontes, Marshall Ítalo Barros, Monlleó, Isabella Lopes, Souza, Josiane de, Fett-Conte, Agnes Cristina, Ribeiro, Erlane Marques, Xavier, Ana Carolina, Rezende, Adriana Augusto de, Simioni, Milena, Ribeiro-dos-Santos, Ândrea Kely Campos, Santos, Sidney Emanuel Batista dos, Gil-da-Silva-Lopes, Vera Lúcia

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