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DNA methylation epi-signature is associated with two molecularly and phenotypically distinct clinical subtypes of Phelan-McDermid syndrome.
Schenkel LC, Aref-Eshghi E, Rooney K, Kerkhof J, Levy MA, McConkey H, Rogers RC, Phelan K, Sarasua SM, Jain L, Pauly R, Boccuto L, DuPont B, Cappuccio G, Brunetti-Pierri N, Schwartz CE, Sadikovic B. Schenkel LC, et al. Among authors: pauly r. Clin Epigenetics. 2021 Jan 6;13(1):2. doi: 10.1186/s13148-020-00990-7. Clin Epigenetics. 2021. PMID: 33407854 Free PMC article.
A new test for autism spectrum disorder: Metabolic data from different cell types.
Srikanth S, Cascio L, Pauly R, Jones K, Sorrow S, Cubillan R, Chen CF, Skinner CD, Champaigne K, Stevenson RE, Schwartz CE, Boccuto L. Srikanth S, et al. Among authors: pauly r. Data Brief. 2021 Nov 23;39:107598. doi: 10.1016/j.dib.2021.107598. eCollection 2021 Dec. Data Brief. 2021. PMID: 34877376 Free PMC article.
Clinical and functional characterization of germline PIK3CA variants in patients with PIK3CA-related overgrowth spectrum disorders.
Cooley Coleman JA, Gass JM, Srikanth S, Pauly R, Ziats CA, Everman DB, Skinner SA, Bell S, Louie RJ, Cascio L, Patterson WG, Jones JR, Di Donato N, Stevenson RE, Boccuto L. Cooley Coleman JA, et al. Among authors: pauly r. Hum Mol Genet. 2023 Apr 20;32(9):1457-1465. doi: 10.1093/hmg/ddac296. Hum Mol Genet. 2023. PMID: 36458889
Sleep disturbances in Phelan-McDermid syndrome: Clinical and metabolic profiling of 56 individuals.
Moffitt BA, Oberman LM, Beamer L, Srikanth S, Jain L, Cascio L, Jones K, Pauly R, May M, Skinner C, Buchanan C, DuPont BR, Kaufmann WE, Valentine K, Ward LD, Ivankovic D, Rogers RC, Phelan K, Sarasua SM, Boccuto L. Moffitt BA, et al. Among authors: pauly r. Clin Genet. 2023 Aug;104(2):198-209. doi: 10.1111/cge.14361. Epub 2023 May 18. Clin Genet. 2023. PMID: 37198960 Free PMC article.
164 results