Congenital disorders of glycosylation
Chang, Irene J, He, Miao, Lam, Christina T
Published in Annals of translational medicine (01.12.2018)
Published in Annals of translational medicine (01.12.2018)
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Quantitative analysis of the natural history of prolidase deficiency: description of 17 families and systematic review of published cases
Rossignol, Francis, Duarte Moreno, Marvid S., Benoist, Jean-François, Boehm, Manfred, Bourrat, Emmanuelle, Cano, Aline, Chabrol, Brigitte, Cosson, Claudine, Díaz, José Luís Dapena, D’Harlingue, Arthur, Dimmock, David, Freeman, Alexandra F., García, María Tallón, Garganta, Cheryl, Goerge, Tobias, Halbach, Sara S., de Laffolie, Jan, Lam, Christina T., Martin, Ludovic, Martins, Esmeralda, Meinhardt, Andrea, Melki, Isabelle, Ombrello, Amanda K., Pérez, Noémie, Quelhas, Dulce, Scott, Anna, Slavotinek, Anne M., Soares, Ana Rita, Stein, Sarah L., Süßmuth, Kira, Thies, Jenny, Ferreira, Carlos R., Schiff, Manuel
Published in Genetics in medicine (01.09.2021)
Published in Genetics in medicine (01.09.2021)
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Dual diagnosis of UQCRFS1-related mitochondrial complex III deficiency and recessive GJA8-related cataracts
Blue, Elizabeth E., Huang, Samuel J., Khan, Alyna, Golden-Grant, Katie, Boyd, Brenna, Rosenthal, Elisabeth A., Gillentine, Madelyn A., Fleming, Leah R., Adams, David R., Wolfe, Lynne, Allworth, Aimee, Bamshad, Michael J., Caruana, Nikeisha J., Chanprasert, Sirisak, Chen, Jingheng, Dargie, Nitsuh, Doherty, Daniel, Friederich, Marisa W., Hisama, Fuki M., Horike-Pyne, Martha, Lee, Jessica C., Donovan, Tonia E., Hock, Daniella H., Leppig, Kathleen A., Miller, Danny E., Mirzaa, Ghayda, Ranchalis, Jane, Raskind, Wendy H., Michel, Cole R., Reisdorph, Richard, Schwarze, Ulrike, Sheppeard, Sam, Strohbehn, Samuel, Stroud, David A., Sybert, Virginia P., Wener, Mark H., Stergachis, Andrew B., Lam, Christina T., Jarvik, Gail P., Dipple, Katrina M., Van Hove, Johan L.K., Glass, Ian A.
Published in Rare (2024)
Published in Rare (2024)
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Clinical, biochemical and genetic characteristics of MOGS-CDG: a rare congenital disorder of glycosylation
Shimada, Shino, Ng, Bobby G, White, Amy L, Nickander, Kim K, Turgeon, Coleman, Liedtke, Kristen L, Lam, Christina T, Font-Montgomery, Esperanza, Lourenco, Charles M, He, Miao, Peck, Dawn S, Umana, Luis A, Uhles, Crescenda L, Haynes, Devon, Wheeler, Patricia G, Bamshad, Michael J, Nickerson, Deborah A, Cushing, Tom, Gates, Ryan, Gomez-Ospina, Natalia, Byers, Heather M, Scalco, Fernanda B, Martinez, Noelia N, Sachdev, Rani, Smith, Lacey, Poduri, Annapurna, Malone, Stephen, Harris, Rebekah V, Scheffer, Ingrid E, Rosenzweig, Sergio D, Adams, David R, Gahl, William A, Malicdan, May Christine V, Raymond, Kimiyo M, Freeze, Hudson H, Wolfe, Lynne A, Bamshad, Michael J, Nickerson, Deborah A, Anderson, Peter, Bacus, Tamara J, Blue, Elizabeth E, Brower, Katherine, Buckingham, Kati J, Chong, Jessica X, Davis, Colleen P, Davis, Chayna J, Frazar, Christian D, Gomeztagle-Burgess, Katherine, Gordon, William W, Horike-Pyne, Martha, Hurless, Jameson R, Jarvik, Gail P, Johanson, Eric, Thomas Kolar, J, Marvin, Colby T, McGee, Sean, McGoldrick, Daniel J, Mekonnen, Betselote, Nielsen, Patrick M, Patterson, Karynne, Radhakrishnan, Aparna, Richardson, Matthew A, Roote, Gwendolin T, Ryke, Erica L, Shively, Kathryn M, Smith, Joshua D, Tackett, Monica, Weiss, Jeffrey M, Wheeler, Marsha M, Yi, Qian, Zhang, Xiaohong
Published in Journal of medical genetics (05.07.2022)
Published in Journal of medical genetics (05.07.2022)
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Proteolytic immuno-SRM-MSMS in dried blood spots to determine immunogenicity in patients with infantile Pompe disease
Chang, Irene J., Dayuha, Remwilyn, Lee, Jeongho, Jung, Sunhee, Jack, Rhona, Lam, Christina T., Merritt, John Lawrence, Sun, Angela, Schoenherr, Regine M., Whiteaker, Jeffrey R., Paulovich, Amanda G., Hahn, Sihoun
Published in Molecular genetics and metabolism (01.02.2018)
Published in Molecular genetics and metabolism (01.02.2018)
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Clinical RNA sequencing clarifies variants of uncertain significance identified by prior testing
Marquez, Jonathan, Cech, Jennifer N., Paschal, Cate R., Dingmann, Bri, Scott, Anna I., Thies, Jenny M., Mills, Maria R., Albert, Catherine M., Beck, Anita E., Beckman, Erika, Bonkowski, Emily S., Earl, Dawn L., Lam, Christina T., Mefford, Heather C., Merritt, J. Lawrence, Nelson, Zoe, Ohlsen, Timothy J.D., Taylor, Mallory R., Perlman, Seth J., Rudzinski, Erin R., Sikes, Megan C., Waligorski, Natalie, Wenger, Tara L., Adam, Margaret P., Mirzaa, Ghayda M., Bennett, James T., Glass, Ian A., Sternen, Darci L., Miller, Danny E.
Published in Genetics in Medicine Open (2024)
Published in Genetics in Medicine Open (2024)
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