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Year Number of Results
2012 1
2014 1
2016 2
2017 1
2018 2
2019 3
2020 3
2021 6
2022 4
2023 3
2024 1

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Page 1
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
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
Circulating tumor DNA sequencing provides comprehensive mutation profiling for pediatric central nervous system tumors.
Bonner ER, Harrington R, Eze A, Bornhorst M, Kline CN, Gordish-Dressman H, Dawood A, Das B, Chen L, Pauly R, Williams PM, Karlovich C, Peach A, Howell D, Doroshow J, Kilburn L, Packer RJ, Mueller S, Nazarian J. Bonner ER, et al. Among authors: pauly r. NPJ Precis Oncol. 2022 Sep 6;6(1):63. doi: 10.1038/s41698-022-00306-3. NPJ Precis Oncol. 2022. PMID: 36068285 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.
Named Data Networking for Genomics Data Management and Integrated Workflows.
Ogle C, Reddick D, McKnight C, Biggs T, Pauly R, Ficklin SP, Feltus FA, Shannigrahi S. Ogle C, et al. Among authors: pauly r. Front Big Data. 2021 Feb 15;4:582468. doi: 10.3389/fdata.2021.582468. eCollection 2021. Front Big Data. 2021. PMID: 33748749 Free PMC article.
25 results