Chromosomal microarray analyses from 5778 patients with neurodevelopmental disorders and congenital anomalies in Brazil von Krepischi, Ana C. V., Villela, Darine, da Costa, Silvia Souza, Mazzonetto, Patricia C., Schauren, Juliana, Migliavacca, Michele P., Milanezi, Fernanda, Santos, Juliana G., Guida, Gustavo, Guarischi-Sousa, Rodrigo, Campana, Gustavo, Kok, Fernando, Schlesinger, David, Kitajima, Joao Paulo, Campagnari, Francine, Bertola, Debora R., Vianna-Morgante, Angela M., Pearson, Peter L., Rosenberg, Carla

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Dosage Changes of a Segment at 17p13.1 Lead to Intellectual Disability and Microcephaly as a Result of Complex Genetic Interaction of Multiple Genes von Carvalho, Claudia M.B., Vasanth, Shivakumar, Shinawi, Marwan, Russell, Chad, Ramocki, Melissa B., Brown, Chester W., Graakjaer, Jesper, Skytte, Anne-Bine, Vianna-Morgante, Angela M., Krepischi, Ana C.V., Patel, Gayle S., Immken, LaDonna, Aleck, Kyrieckos, Lim, Cynthia, Cheung, Sau Wai, Rosenberg, Carla, Katsanis, Nicholas, Lupski, James R.

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Integrative Variation Analysis Reveals that a Complex Genotype May Specify Phenotype in Siblings with Syndromic Autism Spectrum Disorder von Reis, Viviane Neri de Souza, Kitajima, João Paulo, Tahira, Ana Carolina, Feio-Dos-Santos, Ana Cecília, Fock, Rodrigo Ambrósio, Lisboa, Bianca Cristina Garcia, Simões, Sérgio Nery, Krepischi, Ana C V, Rosenberg, Carla, Lourenço, Naila Cristina, Passos-Bueno, Maria Rita, Brentani, Helena

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Methylome profiling of healthy and central precocious puberty girls von Bessa, Danielle S, Maschietto, Mariana, Aylwin, Carlos Francisco, Canton, Ana P M, Brito, Vinicius N, Macedo, Delanie B, Cunha-Silva, Marina, Palhares, Heloísa M C, de Resende, Elisabete A M R, Borges, Maria de Fátima, Mendonca, Berenice B, Netchine, Irene, Krepischi, Ana C V, Lomniczi, Alejandro, Ojeda, Sergio R, Latronico, Ana Claudia

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Chromoanagenesis Event Underlies a de novo Pericentric and Multiple Paracentric Inversions in a Single Chromosome Causing Coffin–Siris Syndrome von Grochowski, Christopher M., Krepischi, Ana C. V., Eisfeldt, Jesper, Du, Haowei, Bertola, Debora R., Oliveira, Danyllo, Costa, Silvia S., Lupski, James R., Lindstrand, Anna, Carvalho, Claudia M. B.

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Recurrent somatic mutation in DROSHA induces microRNA profile changes in Wilms tumour von Torrezan, Giovana T., Ferreira, Elisa N., Nakahata, Adriana M., Barros, Bruna D. F., Castro, Mayra T. M., Correa, Bruna R., Krepischi, Ana C. V., Olivieri, Eloisa H. R., Cunha, Isabela W., Tabori, Uri, Grundy, Paul E., Costa, Cecilia M. L., de Camargo, Beatriz, Galante, Pedro A. F., Carraro, Dirce M.

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Skewed X-chromosome Inactivation in Women with Idiopathic Intellectual Disability is Indicative of Pathogenic Variants von Chaves, Luiza D., Carvalho, Laura M. L., Tolezano, Giovanna C., Pires, Sara F., Costa, Silvia S., de Scliar, Marília O., Giuliani, Liane de R., Bertola, Debora R., Santos-Rebouças, Cíntia B., Seo, Go Hun, Otto, Paulo A., Rosenberg, Carla, Vianna-Morgante, Angela M., Krepischi, Ana C. V.

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Cytogenetically visible inversions are formed by multiple molecular mechanisms von Pettersson, Maria, Grochowski, Christopher M., Wincent, Josephine, Eisfeldt, Jesper, Breman, Amy M., Cheung, Sau W., Krepischi, Ana C. V., Rosenberg, Carla, Lupski, James R., Ottosson, Jesper, Lovmar, Lovisa, Gacic, Jelena, Lundberg, Elisabeth S., Nilsson, Daniel, Carvalho, Claudia M. B., Lindstrand, Anna

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Recurrent Copy Number Variants Associated with Syndromic Short Stature of Unknown Cause von Homma, Thais K., Krepischi, Ana C.V., Furuya, Tatiane K., Honjo, Rachel S., Malaquias, Alexsandra C., Bertola, Debora R., Costa, Silvia S., Canton, Ana P., Roela, Rosimeire A., Freire, Bruna L., Kim, Chong A., Rosenberg, Carla, Jorge, Alexander A.L.

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Insights in Osteosarcoma by Proton Nuclear Magnetic Resonance Serum Metabonomics von Quintero Escobar, Melissa, Costa, Tássia Brena Barroso Carneiro, Martins, Lucas G., Costa, Silvia S., vanHelvoort Lengert, André, Boldrini, Érica, Morini da Silva, Sandra Regina, Lopes, Luiz Fernando, Vidal, Daniel Onofre, Krepischi, Ana C. V., Maschietto, Mariana, Tasic, Ljubica

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Differential DNA Methylation of MicroRNA Genes in Temporal Cortex from Alzheimer’s Disease Individuals von Rosenberg, Carla, Krepischi, Ana C. V., Pasqualucci, Carlos Augusto, Suemoto, Claudia K., Brentani, Helena Paula, Silva, Aderbal R. T., Ramalho, Rodrigo F., Villela, Darine, Grinberg, Lea Tenenholz

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Low-pass whole genome sequencing is a reliable and cost-effective approach for copy number variant analysis in the clinical setting von Mazzonetto, Patricia C, Villela, Darine, da Costa, Silvia Souza, Krepischi, Ana C V, Milanezi, Fernanda, Migliavacca, Michele P, Pierry, Paulo M, Bonaldi, Adriano, Almeida, Luiz Gustavo D, De Souza, Camila Alves, Kroll, José Eduardo, Paula, Marcelo G, Guarischi-Sousa, Rodrigo, Scapulatempo-Neto, Cristovam, Rosenberg, Carla

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Insights into the Chemical Biology of Childhood Embryonal Solid Tumors by NMR-Based Metabolomics von Quintero Escobar, Melissa, Maschietto, Mariana, Krepischi, Ana C V, Avramovic, Natasa, Tasic, Ljubica

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Expanding the Phenotype of 8p23.1 Deletion Syndrome: Eight New Cases Resembling the Clinical Spectrum of 22q11.2 Microdeletion von Montenegro, Marília Moreira, Camilotti, Débora, Quaio, Caio Robledo D’Anglioli Costa, Gasparini, Yanca, Zanardo, Évelin Aline, Rangel-Santos, Andreia, Novo-Filho, Gil Monteiro, Francisco, Gleyson, Liro, Lucas, Nascimento, Amom, Chehimi, Samar Nasser, Soares, Diogo Cordeiro Queiroz, Krepischi, Ana C.V., Grassi, Marcília Sierro, Honjo, Rachel Sayuri, Palmeira, Patricia, Kim, Chong Ae, Carneiro-Sampaio, Magda Maria Sales, Rosenberg, Carla, Kulikowski, Leslie Domenici

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Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability von Shaw-Smith, Charles, Pittman, Alan M, Willatt, Lionel, Martin, Howard, Rickman, Lisa, Gribble, Susan, Curley, Rebecca, Cumming, Sally, Dunn, Carolyn, Kalaitzopoulos, Dimitrios, Porter, Keith, Prigmore, Elena, Krepischi-Santos, Ana C V, Varela, Monica C, Koiffmann, Celia P, Lees, Andrew J, Rosenberg, Carla, Firth, Helen V, de Silva, Rohan, Carter, Nigel P

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Utility of trio-based exome sequencing in the elucidation of the genetic basis of isolated syndromic intellectual disability: illustrative cases von Carneiro, Thaise Nr, Krepischi, Ana Cv, Costa, Silvia S, Tojal da Silva, Israel, Vianna-Morgante, Angela M, Valieris, Renan, Ezquina, Suzana Am, Bertola, Debora R, Otto, Paulo A, Rosenberg, Carla

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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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A novel KNL1 intronic splicing variant likely destabilizes the KMN complex, causing primary microcephaly von Fellows, Bridget J., Tolezano, Giovanna Cantini, Pires, Sara Ferreira, Ruegg, Mischa S. G., Knapp, Karen M., Krepischi, Ana Cristina Victorino, Bicknell, Louise S.

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Germline DNA copy number variation in familial and early-onset breast cancer von Krepischi, Ana Cv, Achatz, Maria Isabel W, Santos, Erika Mm, Costa, Silvia S, Lisboa, Bianca Cg, Brentani, Helena, Santos, Tiago M, Gonçalves, Amanda, Nóbrega, Amanda F, Pearson, Peter L, Vianna-Morgante, Angela M, Carraro, Dirce M, Brentani, Ricardo R, Rosenberg, Carla

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Family-based whole-exome sequencing identifies rare variants potentially related to cutaneous melanoma predisposition in Brazilian melanoma-prone families von Fidalgo, Felipe, Torrezan, Giovana Tardin, Sá, Bianca Costa Soares de, Barros, Bruna Durães de Figueiredo, Moredo, Luciana Facure, Valieris, Renan, de Souza, Sandro J, Duprat, João Pereira, Krepischi, Ana Cristina Victorino, Carraro, Dirce Maria

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