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A report on state-wide implementation of newborn screening for X-linked Adrenoleukodystrophy.
Wiens K, Berry SA, Choi H, Gaviglio A, Gupta A, Hietala A, Kenney-Jung D, Lund T, Miller W, Pierpont EI, Raymond G, Winslow H, Zierhut HA, Orchard PJ. Wiens K, et al. Among authors: pierpont ei. Am J Med Genet A. 2019 Jul;179(7):1205-1213. doi: 10.1002/ajmg.a.61171. Epub 2019 May 10. Am J Med Genet A. 2019. PMID: 31074578 Free PMC article.
Emotional functioning among children with neurofibromatosis type 1 or Noonan syndrome.
McNeill AM, Hudock RL, Foy AMH, Shanley R, Semrud-Clikeman M, Pierpont ME, Berry SA, Sommer K, Moertel CL, Pierpont EI. McNeill AM, et al. Among authors: pierpont ei, pierpont me. Am J Med Genet A. 2019 Dec;179(12):2433-2446. doi: 10.1002/ajmg.a.61361. Epub 2019 Sep 30. Am J Med Genet A. 2019. PMID: 31566897
The seventh international RASopathies symposium: Pathways to a cure-expanding knowledge, enhancing research, and therapeutic discovery.
Kontaridis MI, Roberts AE, Schill L, Schoyer L, Stronach B, Andelfinger G, Aoki Y, Axelrad ME, Bakker A, Bennett AM, Broniscer A, Castel P, Chang CA, Cyganek L, Das TK, den Hertog J, Galperin E, Garg S, Gelb BD, Gordon K, Green T, Gripp KW, Itkin M, Kiuru M, Korf BR, Livingstone JR, López-Juárez A, Magoulas PL, Mansour S, Milner T, Parker E, Pierpont EI, Plouffe K, Rauen KA, Shankar SP, Smith SB, Stevenson DA, Tartaglia M, Van R, Wagner ME, Ware SM, Zenker M. Kontaridis MI, et al. Among authors: pierpont ei. Am J Med Genet A. 2022 Jun;188(6):1915-1927. doi: 10.1002/ajmg.a.62716. Epub 2022 Mar 9. Am J Med Genet A. 2022. PMID: 35266292 Free PMC article.
The 8th International RASopathies Symposium: Expanding research and care practice through global collaboration and advocacy.
Pierpont EI, Bennett AM, Schoyer L, Stronach B, Anschutz A, Borrie SC, Briggs B, Burkitt-Wright E, Castel P, Cirstea IC, Draaisma F, Ellis M, Fear VS, Frone MN, Flex E, Gelb BD, Green T, Gripp KW, Khoshkhoo S, Kieran MW, Kleemann K, Klein-Tasman BP, Kontaridis MI, Kruszka P, Leoni C, Liu CZ, Merchant N, Magoulas PL, Moertel C, Prada CE, Rauen KA, Roelofs R, Rossignol R, Sevilla C, Sevilla G, Sheedy R, Stieglitz E, Sun D, Tiemens D, White F, Wingbermühle E, Wolf C, Zenker M, Andelfinger G. Pierpont EI, et al. Am J Med Genet A. 2024 Apr;194(4):e63477. doi: 10.1002/ajmg.a.63477. Epub 2023 Nov 15. Am J Med Genet A. 2024. PMID: 37969032
Diffusion Tensor Imaging in Boys With Adrenoleukodystrophy: Identification of Cerebral Disease and Association With Neurocognitive Outcomes.
Pierpont EI, Labounek R, Gupta A, Lund T, Orchard PJ, Dobyns WB, Bondy M, Paulson A, Metz A, Shanley R, Wozniak JR, Mueller BA, Loes D, Nascene D, Nestrasil I. Pierpont EI, et al. Neurology. 2024 Sep 10;103(5):e209764. doi: 10.1212/WNL.0000000000209764. Epub 2024 Aug 16. Neurology. 2024. PMID: 39151102 Free PMC article.
43 results