A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation
Ferreira, Carlos R., Xia, Zhi-Jie, Clément, Aurélie, Parry, David A., Davids, Mariska, Taylan, Fulya, Sharma, Prashant, Turgeon, Coleman T., Blanco-Sánchez, Bernardo, Ng, Bobby G., Logan, Clare V., Wolfe, Lynne A., Solomon, Benjamin D., Cho, Megan T., Douglas, Ganka, Carvalho, Daniel R., Bratke, Heiko, Haug, Marte Gjøl, Phillips, Jennifer B., Wegner, Jeremy, Tiemeyer, Michael, Aoki, Kazuhiro, Nordgren, Ann, Hammarsjö, Anna, Duker, Angela L., Rohena, Luis, Hove, Hanne Buciek, Ek, Jakob, Adams, David, Tifft, Cynthia J., Onyekweli, Tito, Weixel, Tara, Macnamara, Ellen, Radtke, Kelly, Powis, Zöe, Earl, Dawn, Gabriel, Melissa, Russi, Alvaro H. Serrano, Brick, Lauren, Kozenko, Mariya, Tham, Emma, Raymond, Kimiyo M., Phillips, John A., Tiller, George E., Wilson, William G., Hamid, Rizwan, Malicdan, May C.V., Nishimura, Gen, Grigelioniene, Giedre, Jackson, Andrew, Westerfield, Monte, Bober, Michael B., Gahl, William A., Freeze, Hudson H.
Published in American journal of human genetics (04.10.2018)
Published in American journal of human genetics (04.10.2018)
Get full text
Journal Article
Rationale and Design for a Phase 1 Study of N-Acetylmannosamine for Primary Glomerular Diseases
Huizing, Marjan, Yardeni, Tal, Fuentes, Federico, Malicdan, May C.V., Leoyklang, Petcharat, Volkov, Alexander, Dekel, Benjamin, Brede, Emily, Blake, Jodi, Powell, Alva, Chatrathi, Harish, Anikster, Yair, Carrillo, Nuria, Gahl, William A., Kopp, Jeffrey B.
Published in Kidney international reports (01.10.2019)
Published in Kidney international reports (01.10.2019)
Get full text
Journal Article
Somatic Mutations in UBA1 and Severe Adult-Onset Autoinflammatory Disease
Beck, David B, Ferrada, Marcela A, Sikora, Keith A, Ombrello, Amanda K, Collins, Jason C, Pei, Wuhong, Balanda, Nicholas, Ross, Daron L, Ospina Cardona, Daniela, Wu, Zhijie, Patel, Bhavisha, Manthiram, Kalpana, Groarke, Emma M, Gutierrez-Rodrigues, Fernanda, Hoffmann, Patrycja, Rosenzweig, Sofia, Nakabo, Shuichiro, Dillon, Laura W, Hourigan, Christopher S, Tsai, Wanxia L, Gupta, Sarthak, Carmona-Rivera, Carmelo, Asmar, Anthony J, Xu, Lisha, Oda, Hirotsugu, Goodspeed, Wendy, Barron, Karyl S, Nehrebecky, Michele, Jones, Anne, Laird, Ryan S, Deuitch, Natalie, Rowczenio, Dorota, Rominger, Emily, Wells, Kristina V, Lee, Chyi-Chia R, Wang, Weixin, Trick, Megan, Mullikin, James, Wigerblad, Gustaf, Brooks, Stephen, Dell’Orso, Stefania, Deng, Zuoming, Chae, Jae J, Dulau-Florea, Alina, Malicdan, May C.V, Novacic, Danica, Colbert, Robert A, Kaplan, Mariana J, Gadina, Massimo, Savic, Sinisa, Lachmann, Helen J, Abu-Asab, Mones, Solomon, Benjamin D, Retterer, Kyle, Gahl, William A, Burgess, Shawn M, Aksentijevich, Ivona, Young, Neal S, Calvo, Katherine R, Werner, Achim, Kastner, Daniel L, Grayson, Peter C
Published in The New England journal of medicine (31.12.2020)
Published in The New England journal of medicine (31.12.2020)
Get full text
Journal Article
Hermansky–Pudlak syndrome: Mutation update
Huizing, Marjan, Malicdan, May C. V., Wang, Jennifer A., Pri‐Chen, Hadass, Hess, Richard A., Fischer, Roxanne, O'Brien, Kevin J., Merideth, Melissa A., Gahl, William A., Gochuico, Bernadette R.
Published in Human mutation (01.03.2020)
Published in Human mutation (01.03.2020)
Get full text
Journal Article
Free sialic acid storage disorder: Progress and promise
Huizing, Marjan, Hackbarth, Mary E., Adams, David R., Wasserstein, Melissa, Patterson, Marc C., Walkley, Steven U., Gahl, William A., Adams, David R., Dobrenis, Kostantin, Foglio, Jessica, Gahl, William A., Gasnier, Bruno, Hackbarth, Mary, Huizing, Marjan, Lek, Monkol, Malicdan, May C.V., Paavola, Liisa E., Patterson, Marc C., Reimer, Richard, Walkley, Steven U., Wasserstein, Melissa, Wang, Raymond Y., Zoncu, Roberto
Published in Neuroscience letters (11.06.2021)
Published in Neuroscience letters (11.06.2021)
Get full text
Journal Article
Mutations in GET4 disrupt the transmembrane domain recognition complex pathway
Tambe, Mitali A., Ng, Bobby G., Shimada, Shino, Wolfe, Lynne A., Adams, David R., Gahl, William A., Bamshad, Michael J., Nickerson, Deborah A., Malicdan, May C. V., Freeze, Hudson H.
Published in Journal of inherited metabolic disease (01.09.2020)
Published in Journal of inherited metabolic disease (01.09.2020)
Get full text
Journal Article
A comprehensive, multidisciplinary, precision medicine approach to discover effective therapy for an undiagnosed, progressive, fibroinflammatory disease
Gochuico, Bernadette R., Ziegler, Shira G., Ten, Nicholas S., Balanda, Nicholas J., Mason, Christopher E., Zumbo, Paul, Evans, Colleen A., Van Waes, Carter, Gahl, William A., Malicdan, May C.V.
Published in Translational research : the journal of laboratory and clinical medicine (01.01.2020)
Published in Translational research : the journal of laboratory and clinical medicine (01.01.2020)
Get full text
Journal Article