Explore our research fingerprint
Jump over to the our research profile to fully explore the nature and scope of our research publications over the years.
Recent publications
- Immunologic investigations into transgene directed immune-mediated myositis following delandistrogene moxeparvovec gene therapyPotter, R. A., Moeller, I. H., Khan, S., Haegel, H., Hollenstein, A., Steiner, G., Wandel, C., Murphy, A. P., Asher, D. R., Palatinsky, E., Griffin, D. A., Mason, S., Iannaccone, S. T., Zaidman, C. M. & Rodino-Klapac, L. R., Dec 2025, In: Scientific reports. 15, 1, 4.Research output: Contribution to journal › Article › peer-review
- Kidney multiome-based genetic scorecard reveals convergent coding and regulatory variantsRegeneron Genetics Center‡, GHS-RGC DiscovEHR Collaboration§, Penn Medicine BioBank¶, Regeneron Genetics Center, GHS-RGC DiscovEHR Collaboration & Penn Medicine BioBank, Feb 7 2025, In: Science (New York, N.Y.). 387, 6734, p. eadp4753Research output: Contribution to journal › Article › peer-review
- Characterizing substructure via mixture modeling in large-scale genetic summary statisticsColorado Center for Personalized Medicine, Feb 6 2025, In: American journal of human genetics. 112, 2, p. 235-253 19 p.Research output: Contribution to journal › Article › peer-review
- Tofersen treatment leads to sustained stabilization of disease in SOD1 ALS in a “real-world” settingTofersen treatment leads to sustained stabilization of disease in SOD1 ALS in a “real-world” settingSmith, S. E., McCoy-Gross, K., Malcolm, A., Oranski, J., Markway, J. W., Miller, T. M. & Bucelli, R. C., Feb 2025, In: Annals of Clinical and Translational Neurology. 12, 2, p. 311-319 9 p.Research output: Contribution to journal › Article › peer-review
- Disease models of myositis: overview of cell culture and rodent systemsHauke, M., Kamiya, M., Weihl, C. C. & Schmidt, J., Feb 2025, In: Clinical and Experimental Rheumatology. 43, 2, p. 345-353 9 p.Research output: Contribution to journal › Review article › peer-review
- Prospective observational study of FKRP-related limb-girdle muscular dystrophy R9: A GRASP consortium studythe GRASP-LGMD Consortium, Feb 2025, In: Annals of Clinical and Translational Neurology. 12, 2, p. 332-344 13 p.Research output: Contribution to journal › Article › peer-review
- Prevalence of Pathogenic Transthyretin Gene Variants in the Rocky Mountain RegionCCPM biobank Author Banner list, Feb 2025, In: Muscle and Nerve. 71, 2, p. 252-256 5 p.Research output: Contribution to journal › Article › peer-review
- AAV gene therapy for Duchenne muscular dystrophy: the EMBARK phase 3 randomized trialMendell, J. R., Muntoni, F., McDonald, C. M., Mercuri, E. M., Ciafaloni, E., Komaki, H., Leon-Astudillo, C., Nascimento, A., Proud, C., Schara-Schmidt, U., Veerapandiyan, A., Zaidman, C. M., Guridi, M., Murphy, A. P., Reid, C., Wandel, C., Asher, D. R., Darton, E., Mason, S. & Potter, R. A. & 5 others, Singh, T., Zhang, W., Fontoura, P., Elkins, J. S. & Rodino-Klapac, L. R., Jan 2025, In: Nature medicine. 31, 1, p. 332-341 10 p., 332.Research output: Contribution to journal › Article › peer-review
- Serious Neurologic Adverse Events in Tofersen Clinical Trials for Amyotrophic Lateral SclerosisLovett, A., Chary, S., Babu, S., Bruneteau, G., Glass, J. D., Karlsborg, M., Ladha, S., Mayl, K., McDermott, C., Bucelli, R. C., Chiò, A., Ferguson, T. A., Cochrane, T., Fradette, S., Smirnakis, K., Inra, J., Malek, S. & Fanning, L., 2025, (Accepted/In press) In: Muscle and Nerve.Research output: Contribution to journal › Article › peer-review
- Safety and Efficacy of IV Onasemnogene Abeparvovec for Pediatric Patients with Spinal Muscular Atrophy: The Phase 3b SMART StudyMcMillan, H. J., Baranello, G., Farrar, M. A., Zaidman, C. M., Moreno, T., De Waele, L., Jong, Y. J., Laugel, V., Quijano-Roy, S., Mercuri, E., Chien, Y. H., Straub, V., Darras, B. T., Seibert, J., Bernardo Escudero, R., Alecu, I., Freischläger, F. & Muntoni, F., Dec 30 2024, In: Neurology. 104, 2, 10.1212/WNL.0000000000210268.Research output: Contribution to journal › Article › peer-review
- Child Neurology: Five-Year Update on Siblings With Riboflavin Transporter Deficiency: Stable Visual and Neurologic Status With Continued Riboflavin TherapyO'Brien, M. A., Culican, S., Shinawi, M. S. & Zaidman, C. M., Dec 10 2024, In: Neurology. 103, 11, p. e209969Research output: Contribution to journal › Article › peer-review
- The PRIMED Consortium: Reducing disparities in polygenic risk assessmentPolygenic Risk Methods in Diverse Populations (PRIMED) Consortium, Dec 5 2024, In: American journal of human genetics. 111, 12, p. 2594-2606 13 p.Research output: Contribution to journal › Review article › peer-review
- Disease related changes in ATAC-seq of iPSC-derived motor neuron lines from ALS patients and controlsthe Answer ALS Consortium, Dec 2024, In: Nature communications. 15, 1, 3606.Research output: Contribution to journal › Article › peer-review
- Outcomes of early-treated infants with spinal muscular atrophy: A multicenter, retrospective cohort studyGoedeker, N. L., Rogers, A., Fisher, M., Arya, K., Brandsema, J. F., Farah, H., Farrar, M. A., Felker, M. V., Gibbons, M., Hamid, O. A., Harmelink, M., Herbert, K., Kichula, E., King, K., Lakhotia, A., Lee, B. H., Kuntz, N. L., Parsons, J., Rehborg, R. & Veerapaniyan, A. & 1 others, Zaidman, C. M., Dec 2024, In: Muscle and Nerve. 70, 6, p. 1247-1256 10 p.Research output: Contribution to journal › Article › peer-review
- Genotype‒phenotype correlation in recessive DNAJB4 myopathyInoue, M., Jayaraman, D., Bengoechea, R., Bhadra, A., Genetti, C. A., Aldeeri, A. A., Turan, B., Pacheco-Orozco, R. A., Al-Maawali, A., Al Hashmi, N., Zamani, A. G., Göktaş, E., Pekcan, S., Çağlar, H. T., True, H., Beggs, A. H. & Weihl, C. C., Dec 2024, In: Acta Neuropathologica Communications. 12, 1, 171.Research output: Contribution to journal › Article › peer-review
- Correction to: The SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease duration (Nature Communications, (2022), 13, 1, (6901), 10.1038/s41467-022-34620-y)Opie-Martin, S., Iacoangeli, A., Topp, S. D., Abel, O., Mayl, K., Mehta, P. R., Shatunov, A., Fogh, I., Bowles, H., Limbachiya, N., Spargo, T. P., Al-Khleifat, A., Williams, K. L., Jockel-Balsarotti, J., Bali, T., Self, W., Henden, L., Nicholson, G. A., Ticozzi, N. & McKenna-Yasek, D. & 29 others, Tang, L., Shaw, P. J., Chio, A., Ludolph, A., Weishaupt, J. H., Landers, J. E., Glass, J. D., Mora, J. S., Robberecht, W., Damme, P. V., McLaughlin, R., […]
- Access for ALL in ALS: A large-scale, inclusive, collaborative consortium to unlock the molecular and genetic mechanisms of amyotrophic lateral sclerosisThe ALL ALS Consortium, Dec 2024, In: Muscle and Nerve. 70, 6, p. 1140-1150 11 p.Research output: Contribution to journal › Review article › peer-review
- Switching treatment to cipaglucosidase alfa plus miglustat positively affects patient-reported outcome measures in patients with late-onset Pompe diseaseon behalf of the PROPEL Study Group, Dec 2024, In: Journal of Patient-Reported Outcomes. 8, 1, 132.Research output: Contribution to journal › Article › peer-review
- Rare variant analyses validate known ALS genes in a multi-ethnic population and identifies ANTXR2 as a candidate in PLSThe New York Genome Center ALS Sequencing Consortium, Scottish Genomes Partnership, ALS COSMOS Study Group, PLS COSMOS Study Group & GTAC Investigators, Dec 2024, In: BMC genomics. 25, 1, 651.Research output: Contribution to journal › Article › peer-review
- A framework for sharing of clinical and genetic data for precision medicine applicationsNYGC ALS Consortium, Dec 2024, In: Nature medicine. 30, 12, p. 3578-3589 12 p., 134.Research output: Contribution to journal › Article › peer-review