Education

• M.D., Trinity College

Publications

• Kishnani PS, Kronn D, Suwazono S, et. al. "Higher dose alglucosidase alfa is associated with improved overall survival in infantile-onset Pompe disease (IOPD): data from the Pompe Registry." Orphanet journal of rare diseases, 18(1), (2023) 381. doi: 10.1186/s13023-023-02981-2
• Kishnani PS, Kronn D, Brassier A, et. al. "Safety and efficacy of avalglucosidase alfa in individuals with infantile-onset Pompe disease enrolled in the phase 2, open-label Mini-COMET study: The 6-month primary analysis report." Genetics in medicine : official journal of the American College of Medical Genetics, 25(2), (2023) 100328. doi: 10.1016/j.gim.2022.10.010
• Duong T, Kishnani PS, An Haack K, et. al. "Motor Responses in Pediatric Pompe Disease in the ADVANCE Participant Cohort." Journal of neuromuscular diseases, 9(6), (2022) 713-730. doi: 10.3233/JND-210784
• Byrne BJ, Colan SD, Kishnani PS, et. al. "Cardiac responses in paediatric Pompe disease in the ADVANCE patient cohort." Cardiology in the young, 32(3), (2022) 364-373. doi: 10.1017/S1047951121002079
• Voisin N, Schnur RE, Douzgou S, et. al. "Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy." American journal of human genetics, 108(5), (2021) 857-873. doi: 10.1016/j.ajhg.2021.04.001
• Tucker-Bartley A, Lemme J, Gomez-Morad A, et. al. "Pain Phenotypes in Rare Musculoskeletal and Neuromuscular Diseases." Neuroscience and biobehavioral reviews, 124(), (2021) 267-290. doi: 10.1016/j.neubiorev.2021.02.009
• Conte F, Morava E, Bakar NA, et. al. "Phosphoglucomutase-1 deficiency: Early presentation, metabolic management and detection in neonatal blood spots." Molecular genetics and metabolism, 131(1-2), (2020) 135-146. doi: 10.1016/j.ymgme.2020.08.003

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