Publications

Recent publications

  • Immunostaining Methods for Lysosomal Storage Disorder Research
    Immunostaining Methods for Lysosomal Storage Disorder ResearchZiółkowska, E. A., Wang, S. H., Nelvagal, H. R. & Cooper, J. D., 2026, Methods in Molecular Biology. Humana Press Inc., p. 227-235 9 p. (Methods in Molecular Biology; vol. 2976).Research output: Chapter in Book/Report/Conference proceeding › Chapter › peer-review
  • Case Series of Nizon-Isidor Syndrome by Heterozygous Variants in MED12L With Further Evidence of Mitotic Instability in One Case With Diploid–Triploid Mosaicism
    Case Series of Nizon-Isidor Syndrome by Heterozygous Variants in MED12L With Further Evidence of Mitotic Instability in One Case With Diploid–Triploid MosaicismUndiagnosed Diseases Network, Stewart, R., Ezell, K. M., Bell, D. S., Corner, B., McMinn, A., Cogan, J. D., Hamid, R., Rives, L., Phillips, J. A., Paddu, N., Srivastava, G., Marom, R., Ladha, F. A., Soler-Alfonso, C., Franciskovich, R., Koziura, M., Pruthi, S., Richard, G. & Sheedy, C. B. & 181 others, Quinlan, A., Elkadri, A., Vanderver, A., Rebelo, A., Beggs, A. H., La Spada, A. R., Huang, A., Paul, A., Miller, A., Al-Beshri, A., Ward, A., Bale, A., McConkie-Rosell, […]
  • Transcription factors implicated in substance use disorder, from immediate early genes to altered gene expression
    Transcription factors implicated in substance use disorder, from immediate early genes to altered gene expressionOrr, E., Yi, J. & Baldridge, D., Jan 1 2026, In: Brain Research. 1870, 150048.Research output: Contribution to journal › Review article › peer-review
  • MCT8 Deficiency in Females
    MCT8 Deficiency in FemalesGroeneweg, S., Van Geest, F. S., Van Der Most, F., Abela, L., Alfieri, P., Bauer, A. J., Bertini, E., Cappa, M., Çelik, N., De Coo, I. F. M., Dolcetta-Capuzzo, A., Dubinski, I., Granadillo, J. L., Hoefsloot, L. H., Kalscheuer, V. M., Van Der Knoop, M. M., Krude, H., McNerney, K. P., Paone, L. & Peeters, R. P. & 9 others, Peters, C., Schuelke, M., Schweizer, U., Sprague, J. E., Van Trotsenburg, A. S. P., Wilpert, N. M., Zanni, G., Van Zutven, L. J. C. M. & Visser, W. E., Jan 1 2026, In: Journal of Clinical Endocrinology […]
  • Corrigendum to A CLN6-CLN8 complex recruits lysosomal enzymes at the ER for Golgi transfer
    Corrigendum to A CLN6-CLN8 complex recruits lysosomal enzymes at the ER for Golgi transferBajaj, L., Sharma, J., di Ronza, A., Zhang, P., Eblimit, A., Pal, R., Roman, D., Collette, J. R., Booth, C., Chang, K. T., Sifers, R. N., Jung, S. Y., Weimer, J. M., Chen, R., Schekman, R. W. & Sardiello, M., Dec 15 2025, In: The Journal of clinical investigation. 135, 24Research output: Contribution to journal › Comment/debate
  • Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies
    Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathiesKüry, S., Stanton, J. E., van Woerden, G. M., Bosc-Rosati, A., Hsieh, T. C., Bray, L., Oloudé, M., Rosenfelt, C., Scott-Boyer, M. P., Most, V., Wang, T., Papendorf, J. J., de Konink, C., Deb, W., Vignard, V., Studencka-Turski, M., Besnard, T., Hajdukowicz, A. M., Thiel, F. G. & Wolfgramm, S. & 129 others, Florenceau, L., Cuinat, S., Marsac, S., Verrès, Y., Dangoumau, A., Poirier, L., Wentzensen, I. M., Tuttle, A., Forster, C., Striesow, J., Golnik, R., Ortiz, D., Jenkins, L., Rosenfeld, J. A., Ziegler, A., Houdayer, C., […]
  • Whole-genome sequencing reveals individual and cohort level insights into chromosome 9p syndromes
    Whole-genome sequencing reveals individual and cohort level insights into chromosome 9p syndromes9P-ARCH, Dec 2025, In: Genome medicine. 17, 1, 129.Research output: Contribution to journal › Article › peer-review
  • Joint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentations
    Joint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentationsUndiagnosed Diseases Network, Dec 2025, In: Nature communications. 16, 1, 7267.Research output: Contribution to journal › Article › peer-review
  • Gene therapy ameliorates neuromuscular pathology in CLN3 disease
    Gene therapy ameliorates neuromuscular pathology in CLN3 diseaseZiółkowska, E. A., Jablonka-Shariff, A., Williams, L. L., Jansen, M. J., Wang, S. H., Eultgen, E. M., Wood, M. D., Hunter, D. A., Sharma, J., Sardiello, M., Reese, R., Pestronk, A., Sands, M., Snyder-Warwick, A. & Cooper, J. D., Dec 2025, In: Acta Neuropathologica Communications. 13, 1, 160.Research output: Contribution to journal › Article › peer-review
  • Reference Growth Charts for Children With 47,XXY/Klinefelter Syndrome
    Reference Growth Charts for Children With 47,XXY/Klinefelter SyndromeDavis, S. M., Marshall, T. E., Swenson, K. S., Bothwell, S., Nokoff, N. J., Middleton, A., Furniss, A., Alkhdour, M., Christakis, D. A., Elliott, V. A., Heeley, J., Ikomi, C., Ross, J., Stone, S. I., Vogiatzi, M. G. & Tartaglia, N. R., Dec 1 2025, In: Pediatrics. 156, 6Research output: Contribution to journal › Article › peer-review
Complete research profile