Autoimmune disease and multiple autoantibodies in 42 patients with RASopathies von Quaio, Caio R.D.C., Carvalho, Jozélio F., da Silva, Clovis A., Bueno, Cleonice, Brasil, Amanda S., Pereira, Alexandre C., Jorge, Alexander A.L., Malaquias, Alexsandra C., Kim, Chong A., Bertola, Débora R.

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Gene expression profile suggesting immunological dysregulation in two Brazilian Bloom's syndrome cases von Montenegro, Marilia M., Quaio, Caio R., Palmeira, Patricia, Gasparini, Yanca, Rangel‐Santos, Andreia, Damasceno, Julian, Novak, Estela M., Gimenez, Thamires M., Yamamoto, Guilherme L., Ronjo, Rachel S., Novo‐Filho, Gil M., Chehimi, Samar N., Zanardo, Evelin A., Dias, Alexandre T., Nascimento, Amom M., Costa, Thais V. M. M., Duarte, Alberto J. da S., Coutinho, Luiz L., Kim, Chong A., Kulikowski, Leslie D.

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Does SCA45 Cause Very Late-Onset Pure Cerebellar Ataxia? von Tonholo Silva, Thiago Y., Rosa, Augusto B.R., Quaio, Caio R., Verbeek, Dineke, Pedroso, José Luiz, Barsottini, Orlando

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Vertical transmission of a frontonasal phenotype caused by a novel ALX4 mutation von Bertola, Débora R, Rodrigues, Melina G., Quaio, Caio R.D.C., Kim, Chong A., Passos‐Bueno, Maria Rita

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Lipoid proteinosis: Rare case confirmed by ECM1 mutation detection von Almeida, Tatiana F, Soares, Diogo C, Quaio, Caio R, Honjo, Rachel S, Bertola, Débora R, McGrath, John A, Kim, Chong A

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Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features von Stankiewicz, Paweł, Khan, Tahir N., Szafranski, Przemyslaw, Slattery, Leah, Streff, Haley, Vetrini, Francesco, Bernstein, Jonathan A., Brown, Chester W., Rosenfeld, Jill A., Rednam, Surya, Scollon, Sarah, Bergstrom, Katie L., Parsons, Donald W., Plon, Sharon E., Vieira, Marta W., Quaio, Caio R.D.C., Baratela, Wagner A.R., Acosta Guio, Johanna C., Armstrong, Ruth, Mehta, Sarju G., Rump, Patrick, Pfundt, Rolph, Lewandowski, Raymond, Fernandes, Erica M., Shinde, Deepali N., Tang, Sha, Hoyer, Juliane, Zweier, Christiane, Reis, André, Bacino, Carlos A., Xiao, Rui, Breman, Amy M., Smith, Janice L., Katsanis, Nicholas, Bostwick, Bret, Popp, Bernt, Davis, Erica E., Yang, Yaping

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Manchas hipomelanocíticas associadas à epilepsia: alerta ao diagnóstico de esclerose tuberosa von Moreira, Mariana C., Quaio, Caio R. D. C., Gomy, Israel, Bertola, Débora R., Kim, Chong Ae

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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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Expansion and mechanistic insights into de novo DEAF1 variants in DEAF1-associated neurodevelopmental disorders von McGee, Stacey R, Rajamanickam, Shivakumar, Adhikari, Sandeep, Falayi, Oluwatosin C, Wilson, Theresa A, Shayota, Brian J, Cooley Coleman, Jessica A, Skinner, Cindy, Caylor, Raymond C, Stevenson, Roger E, Quaio, Caio Robledo D' Angioli Costa, Wilke, Berenice Cunha, Bain, Jennifer M, Anyane-Yeboa, Kwame, Brown, Kaitlyn, Greally, John M, Bijlsma, Emilia K, Ruivenkamp, Claudia A L, Politi, Keren, Arbogast, Lydia A, Collard, Michael W, Huggenvik, Jodi I, Elsea, Sarah H, Jensik, Philip J

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Hypopigmented macules associated to seizures must raise avareness for the possibility of the diagnosis of tuberous sclerosis/Manchas hipomelanociticas associadas a epilepsia: alert... von Moreira, Mariana C, Quaio, Caio R.D.C, Gomy, Israel, Bertola, Debora R, Kim, Chong Ae

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Hypopigmented macules associated to seizures must raise avareness for the possibility of the diagnosis of tuberous sclerosis/Manchas hipomelanociticas associadas a epilepsia: alert... von Bertola, Debora R, Moreira, Mariana C, Quaio, Caio R.D.C, Kim, Chong Ae, Gomy, Israel

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Vertical transmission of a frontonasal phenotype caused by a novel ALX4 mutation von Bertola, Débora R, Rodrigues, Melina G., Quaio, Caio R.D.C., Kim, Chong A., Passos-Bueno, Maria Rita

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