Galnt11 regulates kidney function by glycosylating the endocytosis receptor megalin to modulate ligand binding von Tian, E., Wang, Shengjun, Zhang, Liping, Zhang, Ying, Malicdan, May C., Mao, Yang, Christoffersen, Christina, Tabak, Lawrence A., Schjoldager, Katrine T., Hagen, Kelly G. Ten

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Safety and efficacy of N-acetylmannosamine (ManNAc) in patients with GNE myopathy: an open-label phase 2 study von Carrillo, Nuria, Malicdan, May C., Leoyklang, Petcharat, Shrader, Joseph A., Joe, Galen, Slota, Christina, Perreault, John, Heiss, John D., Class, Bradley, Liu, Chia-Ying, Bradley, Kennan, Jodarski, Colleen, Ciccone, Carla, Driscoll, Claire, Parks, Rebecca, Van Wart, Scott, Bayman, Levent, Coffey, Christopher S., Quintana, Melanie, Berry, Scott M., Huizing, Marjan, Gahl, William A.

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GNE Myopathy: Etiology, Diagnosis, and Therapeutic Challenges von Carrillo, Nuria, Malicdan, May C., Huizing, Marjan

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A suite of automated sequence analyses reduces the number of candidate deleterious variants and reveals a difference between probands and unaffected siblings von Gu, Fangning, Wu, Anchi, Gordon, M. Grace, Vlahos, Lukas, Macnamara, Shane, Burke, Elizabeth, Malicdan, May C., Adams, David R., Tifft, Cynthia J., Toro, Camilo, Gahl, William A., Markello, Thomas C.

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Hermansky–Pudlak syndrome: Mutation update von 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.

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Joubert Syndrome: Ophthalmological Findings in Correlation with Genotype and Hepatorenal Disease in 99 Patients Prospectively Evaluated at a Single Center von Brooks, Brian P., Zein, Wadih M., Thompson, Amy H., Mokhtarzadeh, Maryam, Doherty, Daniel A., Parisi, Melissa, Glass, Ian A., Malicdan, May C., Vilboux, Thierry, Vemulapalli, Meghana, Mullikin, James C., Gahl, William A., Gunay-Aygun, Meral

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ERMA (TMEM94) is a P-type ATPase transporter for Mg 2+ uptake in the endoplasmic reticulum von Vishnu, Neelanjan, Venkatesan, Manigandan, Madaris, Travis R, Venkateswaran, Mridula K, Stanley, Kristen, Ramachandran, Karthik, Chidambaram, Adhishree, Madesh, Abitha K, Yang, Wenli, Nair, Jyotsna, Narkunan, Melanie, Muthukumar, Tharani, Karanam, Varsha, Joseph, Leroy C, Le, Amy, Osidele, Ayodeji, Aslam, M Imran, Morrow, John P, Malicdan, May C, Stathopulos, Peter B, Madesh, Muniswamy

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ERMA (TMEM94) is a P-type ATPase transporter for Mg2+ uptake in the endoplasmic reticulum von Vishnu, Neelanjan, Venkatesan, Manigandan, Madaris, Travis R., Venkateswaran, Mridula K., Stanley, Kristen, Ramachandran, Karthik, Chidambaram, Adhishree, Madesh, Abitha K., Yang, Wenli, Nair, Jyotsna, Narkunan, Melanie, Muthukumar, Tharani, Karanam, Varsha, Joseph, Leroy C., Le, Amy, Osidele, Ayodeji, Aslam, M. Imran, Morrow, John P., Malicdan, May C., Stathopulos, Peter B., Madesh, Muniswamy

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Functional analysis of a de novo variant in the neurodevelopment and generalized epilepsy disease gene NBEA von Boulin, Thomas, Itani, Omar, El Mouridi, Sonia, Leclercq-Blondel, Alice, Gendrel, Marie, Macnamara, Ellen, Soldatos, Ariane, Murphy, Jennifer L., Gorman, Mark P., Lindsey, Anika, Shimada, Shino, Turner, Darian, Silverman, Gary A., Baldridge, Dustin, Malicdan, May C., Schedl, Tim, Pak, Stephen C.

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PUS7 deficiency in human patients causes profound neurodevelopmental phenotype by dysregulating protein translation von Han, Sangwoo T., Kim, Andrew C., Garcia, Karolyn, Schimmenti, Lisa A., Macnamara, Ellen, Network, Undiagnosed Diseases, Gahl, William A., Malicdan, May C., Tifft, Cynthia J.

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NMIHBA results from hypomorphic PRUNE1 variants that lack short-chain exopolyphosphatase activity von Nistala, Harikiran, Dronzek, John, Gonzaga-Jauregui, Claudia, Chim, Shek Man, Rajamani, Saathyaki, Nuwayhid, Samer, Delgado, Dennis, Burke, Elizabeth, Karaca, Ender, Franklin, Matthew C, Sarangapani, Prasad, Podgorski, Michael, Tang, Yajun, Dominguez, Melissa G, Withers, Marjorie, Deckelbaum, Ron A, Scheonherr, Christopher J, Gahl, William A, Malicdan, May C, Zambrowicz, Brian, Gale, Nicholas W, Gibbs, Richard A, Chung, Wendy K, Lupski, James R, Economides, Aris N

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Mutations in GET4 disrupt the transmembrane domain recognition complex pathway von 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.

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Characteristics of Liver Disease in 100 Individuals With Joubert Syndrome Prospectively Evaluated at a Single Center von Strongin, Anna, Heller, Theo, Doherty, Dan, Glass, Ian A., Parisi, Melissa A., Bryant, Joy, Choyke, Peter, Turkbey, Baris, Daryanani, Kailash, Yildirimli, Deniz, Vemulapalli, Meghana, Mullikin, Jim C., Malicdan, May C., Vilboux, Thierry, Gahl, William A., Gunay‐Aygun, Meral

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Combined alpha-delta platelet storage pool deficiency is associated with mutations in GFI1B von Ferreira, Carlos R., Chen, Dong, Abraham, Shirley M., Adams, David R., Simon, Karen L., Malicdan, May C., Markello, Thomas C., Gunay-Aygun, Meral, Gahl, William A.

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Diagnosis of Chediak Higashi disease in a 67‐year old woman von Yarnell, David S., Roney, Joseph C., Teixeira, Cláudia, Freitas, Maria I., Cipriano, Ana, Leuschner, Pedro, Krzewski, Konrad, Stephen, Joshi, Dorward, Heidi, Gahl, William A., Gochuico, Bernadette R., Toro, Camilo, Malicdan, May C., Introne, Wendy J.

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A comprehensive, multidisciplinary, precision medicine approach to discover effective therapy for an undiagnosed, progressive, fibroinflammatory disease von 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.

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Phenotypic evolution of UNC80 loss of function von Valkanas, Elise, Schaffer, Katherine, Dunham, Christopher, Maduro, Valerie, du Souich, Christèle, Rupps, Rosemarie, Adams, David R., Baradaran-Heravi, Alireza, Flynn, Elise, Malicdan, May C., Gahl, William A., Toro, Camilo, Boerkoel, Cornelius F.

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Complex translocation disrupting TCF4 and altering TCF4 isoform expression segregates as mild autosomal dominant intellectual disability von Maduro, Valerie, Pusey, Barbara N, Cherukuri, Praveen F, Atkins, Paul, du Souich, Christèle, Rupps, Rosemarie, Limbos, Marjolaine, Adams, David R, Bhatt, Samarth S, Eydoux, Patrice, Links, Amanda E, Lehman, Anna, Malicdan, May C, Mason, Christopher E, Morimoto, Marie, Mullikin, James C, Sear, Andrew, Van Karnebeek, Clara, Stankiewicz, Pawel, Gahl, William A, Toro, Camilo, Boerkoel, Cornelius F

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Rationale and Design for a Phase 1 Study of N-Acetylmannosamine for Primary Glomerular Diseases von 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.

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Somatic Mutations in UBA1 and Severe Adult-Onset Autoinflammatory Disease von 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

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