Developing a scoring system for gene curation prioritization in lysosomal diseases von Vernet Machado Bressan Wilke, Matheus, Goldstein, Jennifer, Groopman, Emily, Mohan, Shruthi, Waddell, Amber, Fernandez, Raquel, Chen, Hongjie, Bali, Deeksha, Baudet, Heather, Clarke, Lorne, Hung, Christina, Mao, Rong, Yuzyuk, Tatiana, Craigen, William J., Pinto e Vairo, Filippo

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Expanding the phenotype of DNAJC30‐associated Leigh syndrome von Zawadzka, Marta, Krygier, Magdalena, Pawłowicz, Małgorzata, Wilke, Matheus Vernet Machado Bressan, Rutkowska, Karolina, Gueguen, Naig, Desquiret‐Dumas, Valerie, Klee, Eric W., Schimmenti, Lisa A., Sławek, Jarosław, Procaccio, Vincent, Płoski, Rafał, Mazurkiewicz‐Bełdzińska, Maria

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A Brazilian Rare-Disease Center's Experience with Glucosylsphingosine (lyso-Gb1) in Patients with Gaucher Disease: Exploring a Novel Correlation with IgG Levels in Plasma and a Bio... von Vernet Machado Bressan Wilke, Matheus, Iop, Gabrielle Dineck, Faqueti, Larissa, Lemos da Silva, Layzon Antonio, Kubaski, Francyne, Poswar, Fabiano O, Michelin-Tirelli, Kristiane, Randon, Dévora, Borelli, Wyllians Vendramini, Giugliani, Roberto, Schwartz, Ida Vanessa D

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Spontaneous Pubertal Onset in a Male Patient With Mixed Gonadal Dysgenesis With Mosaicism 45,X/ 46, X, mar (Y)/ 47,X,mar(Y),+mar(Y) - Pediatric Case Report von Wilke, Matheus Vernet Machado Bressan, Costa, Eduardo Corrêa, Leite, Julio Cesar Loguercio, Lucena, Iara Regina Siqueira, Hemesath, Tatiana Prade, Carvalho, Clarissa Gutierrez, Riegel, Mariluce, Guaragna-Filho, Guilherme

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Follow-up of pre-motor symptoms of Parkinson’s disease in adult patients with Gaucher disease type 1 and analysis of their lysosomal enzyme profiles in the CSF von Wilke, Matheus Vernet Machado Bressan, Poswar, Fabiano, Borelli, Wyllians Vendramini, Michelin Tirelli, Kristiane, Randon, Dévora Natalia, Lopes, Franciele Fátima, Pasetto, Fernanda Bender, Sebastião, Fernanda Medeiros, Iop, Gabrielle Dineck, Faqueti, Larissa, da Silva, Layzon Antonio, Kubaski, Francyne, Schuh, Artur Francisco Schumacher, Giugliani, Roberto, Schwartz, Ida Vanessa Doederlein

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A Broad Characterization of Glycogen Storage Disease IV Patients: A Clinical, Genetic, and Histopathological Study von Wilke, Matheus Vernet Machado Bressan, de Oliveira, Bibiana Mello, Starosta, Rodrigo Tzovenos, Shinawi, Marwan, Lu, Liang, He, Mai, Ma, Yamin, Stoll, Janis, de Souza, Carolina Fischinger Moura, de Siqueira, Ana Cecilia Menezes, Vieira, Sandra Maria Gonçalves, Cerski, Carlos Thadeu, Refosco, Lilia Farret, Schwartz, Ida Vanessa Doederlein

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Prevalence, Penetrance, and Phenotypic Manifestation of Cardiomyopathy-Associated Genetic Variants in the General Population: Insights from a Mayo Clinic Biobank Study von Figueiral, Marta, Paldino, Alessia, Wilke, Matheus Vernet Machado Bressan, Farris, Joseph D., Verheijen, Jan, Giudicessi, John R., Ackerman, Michael J., Olson, Janet E., Arroyo, Jennifer, Olson, Rory J., Klee, Eric W., Pereira, Naveen L.

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MARK2 variants cause autism spectrum disorder via the downregulation of WNT/β-catenin signaling pathway von Gong, Maolei, Li, Jiayi, Qin, Zailong, Machado Bressan Wilke, Matheus Vernet, Liu, Yijun, Li, Qian, Liu, Haoran, Liang, Chen, Morales-Rosado, Joel A., Cohen, Ana S.A., Hughes, Susan S., Sullivan, Bonnie R., Waddell, Valerie, van den Boogaard, Marie-José H., van Jaarsveld, Richard H., van Binsbergen, Ellen, van Gassen, Koen L., Wang, Tianyun, Hiatt, Susan M., Amaral, Michelle D., Kelley, Whitley V., Zhao, Jianbo, Feng, Weixing, Ren, Changhong, Yu, Yazhen, Boczek, Nicole J., Ferber, Matthew J., Lahner, Carrie, Elliott, Sherr, Ruan, Yiyan, Mignot, Cyril, Keren, Boris, Xie, Hua, Wang, Xiaoyan, Popp, Bernt, Zweier, Christiane, Piard, Juliette, Coubes, Christine, Mau-Them, Frederic Tran, Safraou, Hana, Innes, A. Micheil, Gauthier, Julie, Michaud, Jacques L., Koboldt, Daniel C., Sylvie, Odent, Willems, Marjolaine, Tan, Wen-Hann, Cogne, Benjamin, Rieubland, Claudine, Braun, Dominique, McLean, Scott Douglas, Platzer, Konrad, Zacher, Pia, Oppermann, Henry, Evenepoel, Lucie, Blanc, Pierre, El Khattabi, Laïla, Haque, Neshatul, Dsouza, Nikita R., Zimmermann, Michael T., Urrutia, Raul, Klee, Eric W., Shen, Yiping, Du, Hongzhen, Rappaport, Leonard, Liu, Chang-Mei, Chen, Xiaoli

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Mucopolysaccharidosis: Caregiver Quality of Life von Guarany, Nicole Ruas, Vanz, Ana Paula, Wilke, Matheus Vernet Machado Bressan, Bender, Daniele Dorneles, Borges, Mariana Dumer, Giugliani, Roberto, Schwartz, Ida Vanessa Doederlein

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Mucopolysaccharidosis von Nicole Ruas Guarany PhD, Ana Paula Vanz MD, Matheus Vernet Machado Bressan Wilke, Daniele Dorneles Bender, Mariana Dumer Borges, Roberto Giugliani PhD, Ida Vanessa Doederlein Schwartz PhD

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