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A complement C4-derived glycopeptide is a biomarker for PMM2-CDG.
Garapati K, Budhraja R, Saraswat M, Kim J, Joshi N, Sachdeva GS, Jain A, Ligezka AN, Radenkovic S, Ramarajan MG, Udainiya S, Raymond K, He M, Lam C, Larson A, Edmondson AC, Sarafoglou K, Larson NB, Freeze HH, Schultz MJ, Kozicz T, Morava E, Pandey A. Garapati K, et al. Among authors: morava e. JCI Insight. 2024 Apr 8;9(7):e172509. doi: 10.1172/jci.insight.172509. JCI Insight. 2024. PMID: 38587076 Free PMC article.
TRAPPC11-CDG muscular dystrophy: Review of 54 cases including a novel patient.
Corona-Rivera JR, Martínez-Duncker I, Morava E, Ranatunga W, Salinas-Marin R, González-Jaimes AM, Castillo-Reyes KA, Peña-Padilla C, Bobadilla-Morales L, Corona-Rivera A, Orozco-Vela M, Brukman-Jiménez SA. Corona-Rivera JR, et al. Among authors: morava e. Mol Genet Metab. 2024 May;142(1):108469. doi: 10.1016/j.ymgme.2024.108469. Epub 2024 Mar 28. Mol Genet Metab. 2024. PMID: 38564972 Review.
Semiautomated approach focused on new genomic information results in time and effort-efficient reannotation of negative exome data.
Ferrer A, Duffy P, Olson RJ, Meiners MA, Schultz-Rogers L, Macke EL, Safgren S, Morales-Rosado JA, Cousin MA, Oliver GR, Rider D, Williams M, Pichurin PN, Deyle DR, Morava E, Gavrilova RH, Dhamija R, Wierenga KJ, Lanpher BC, Babovic-Vuksanovic D, Kaiwar C, Vitek CR, McAllister TM, Wick MJ, Schimmenti LA, Lazaridis KN, Vairo FPE, Klee EW. Ferrer A, et al. Among authors: morava e. Hum Genet. 2024 Mar 27. doi: 10.1007/s00439-024-02664-3. Online ahead of print. Hum Genet. 2024. PMID: 38538918
443 results