Robert J. Desnick
Affiliations: | Icahn School of Medicine at Mount Sinai, New York, NY, United States |
Area:
Genetics, Molecular Biology, PathologyGoogle:
"Robert Desnick"Children
Sign in to add trainee| Bridget Shafit-Zagardo | grad student | (Neurotree) | |
| Grace A. Ashley | grad student | 2001 | Mount Sinai School of Medicine |
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Publications
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| Ortiz A, Kanters S, Hamed A, et al. (2021) Agalsidase beta treatment slows estimated glomerular filtration rate loss in classic Fabry disease patients: results from an individual patient data meta-analysis. Clinical Kidney Journal. 14: 1136-1146 |
| Seo GH, Kim T, Choi IH, et al. (2020) Diagnostic yield and clinical utility of whole exome sequencing using an automated variant prioritization system, EVIDENCE. Clinical Genetics |
| Yasuda M, Huston MW, Pagant S, et al. (2020) AAV2/6 Gene Therapy in a Murine Model of Fabry Disease Results in Supraphysiological Enzyme Activity and Effective Substrate Reduction. Molecular Therapy. Methods & Clinical Development. 18: 607-619 |
| Berger S, Stattmann M, Cicvaric A, et al. (2020) Severe hydroxymethylbilane synthase deficiency causes depression-like behavior and mitochondrial dysfunction in a mouse model of homozygous dominant acute intermittent porphyria. Acta Neuropathologica Communications. 8: 38 |
| Gouya L, Ventura P, Balwani M, et al. (2019) EXPLORE: A Prospective, Multinational, Natural History Study of Patients with Acute Hepatic Porphyria with Recurrent Attacks. Hepatology (Baltimore, Md.) |
| Parker CJ, Desnick RJ, Bissel MD, et al. (2019) Results of a pilot study of isoniazid in patients with erythropoietic protoporphyria. Molecular Genetics and Metabolism |
| Chen B, Whatley S, Badminton M, et al. (2019) International Porphyria Molecular Diagnostic Collaborative: an evidence-based database of verified pathogenic and benign variants for the porphyrias. Genetics in Medicine : Official Journal of the American College of Medical Genetics |
| Moghe A, Ramanujam VMS, Phillips JD, et al. (2019) Harderoporphyria: Case of lifelong photosensitivity associated with compound heterozygous coproporphyrinogen oxidase (CPOX) mutations. Molecular Genetics and Metabolism Reports. 19: 100457 |
| Chen B, Solis-Villa C, Erwin AL, et al. (2019) Identification and characterization of 40 novel hydroxymethylbilane synthase mutations that cause acute intermittent porphyria. Journal of Inherited Metabolic Disease. 42: 186-194 |
| Yasuda M, Desnick RJ. (2019) Murine models of the human porphyrias: Contributions toward understanding disease pathogenesis and the development of new therapies. Molecular Genetics and Metabolism |