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Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutation.
Marsh DJ, Coulon V, Lunetta KL, Rocca-Serra P, Dahia PL, Zheng Z, Liaw D, Caron S, Duboué B, Lin AY, Richardson AL, Bonnetblanc JM, Bressieux JM, Cabarrot-Moreau A, Chompret A, Demange L, Eeles RA, Yahanda AM, Fearon ER, Fricker JP, Gorlin RJ, Hodgson SV, Huson S, Lacombe D, Eng C, et al. Marsh DJ, et al. Hum Mol Genet. 1998 Mar;7(3):507-15. doi: 10.1093/hmg/7.3.507. Hum Mol Genet. 1998. PMID: 9467011
ELIXIR and Toxicology: a community in development.
Martens M, Stierum R, Schymanski EL, Evelo CT, Aalizadeh R, Aladjov H, Arturi K, Audouze K, Babica P, Berka K, Bessems J, Blaha L, Bolton EE, Cases M, Damalas DΕ, Dave K, Dilger M, Exner T, Geerke DP, Grafström R, Gray A, Hancock JM, Hollert H, Jeliazkova N, Jennen D, Jourdan F, Kahlem P, Klanova J, Kleinjans J, Kondic T, Kone B, Lynch I, Maran U, Martinez Cuesta S, Ménager H, Neumann S, Nymark P, Oberacher H, Ramirez N, Remy S, Rocca-Serra P, Salek RM, Sallach B, Sansone SA, Sanz F, Sarimveis H, Sarntivijai S, Schulze T, Slobodnik J, Spjuth O, Tedds J, Thomaidis N, Weber RJM, van Westen GJP, Wheelock CE, Williams AJ, Witters H, Zdrazil B, Županič A, Willighagen EL. Martens M, et al. Among authors: rocca serra p. F1000Res. 2023 Oct 3;10:ELIXIR-1129. doi: 10.12688/f1000research.74502.2. eCollection 2021. F1000Res. 2023. PMID: 37842337 Free PMC article.
The Translational Data Catalog - discoverable biomedical datasets.
Welter D, Rocca-Serra P, Grouès V, Sallam N, Ancien F, Shabani A, Asariardakani S, Alper P, Ghosh S, Burdett T, Sansone SA, Gu W, Satagopam V. Welter D, et al. Among authors: rocca serra p. Sci Data. 2023 Jul 20;10(1):470. doi: 10.1038/s41597-023-02258-0. Sci Data. 2023. PMID: 37474618 Free PMC article.
The FAIR Cookbook - the essential resource for and by FAIR doers.
Rocca-Serra P, Gu W, Ioannidis V, Abbassi-Daloii T, Capella-Gutierrez S, Chandramouliswaran I, Splendiani A, Burdett T, Giessmann RT, Henderson D, Batista D, Emam I, Gadiya Y, Giovanni L, Willighagen E, Evelo C, Gray AJG, Gribbon P, Juty N, Welter D, Quast K, Peeters P, Plasterer T, Wood C, van der Horst E, Reilly D, van Vlijmen H, Scollen S, Lister A, Thurston M, Granell R; FAIR Cookbook Contributors; Sansone SA. Rocca-Serra P, et al. Sci Data. 2023 May 19;10(1):292. doi: 10.1038/s41597-023-02166-3. Sci Data. 2023. PMID: 37208467 Free PMC article.
FAIR in action - a flexible framework to guide FAIRification.
Welter D, Juty N, Rocca-Serra P, Xu F, Henderson D, Gu W, Strubel J, Giessmann RT, Emam I, Gadiya Y, Abbassi-Daloii T, Alharbi E, Gray AJG, Courtot M, Gribbon P, Ioannidis V, Reilly DS, Lynch N, Boiten JW, Satagopam V, Goble C, Sansone SA, Burdett T. Welter D, et al. Among authors: rocca serra p. Sci Data. 2023 May 19;10(1):291. doi: 10.1038/s41597-023-02167-2. Sci Data. 2023. PMID: 37208349 Free PMC article.
Making Common Fund data more findable: catalyzing a data ecosystem.
Charbonneau AL, Brady A, Czajkowski K, Aluvathingal J, Canchi S, Carter R, Chard K, Clarke DJB, Crabtree J, Creasy HH, D'Arcy M, Felix V, Giglio M, Gingrich A, Harris RM, Hodges TK, Ifeonu O, Jeon M, Kropiwnicki E, Lim MCW, Liming RL, Lumian J, Mahurkar AA, Mandal M, Munro JB, Nadendla S, Richter R, Romano C, Rocca-Serra P, Schor M, Schuler RE, Tangmunarunkit H, Waldrop A, Williams C, Word K, Sansone SA, Ma'ayan A, Wagner R, Foster I, Kesselman C, Brown CT, White O. Charbonneau AL, et al. Among authors: rocca serra p. Gigascience. 2022 Nov 21;11:giac105. doi: 10.1093/gigascience/giac105. Gigascience. 2022. PMID: 36409836 Free PMC article.
Machine actionable metadata models.
Batista D, Gonzalez-Beltran A, Sansone SA, Rocca-Serra P. Batista D, et al. Among authors: rocca serra p. Sci Data. 2022 Sep 30;9(1):592. doi: 10.1038/s41597-022-01707-6. Sci Data. 2022. PMID: 36180441 Free PMC article.
ELIXIR biovalidator for semantic validation of life science metadata.
Liyanage I, Burdett T, Droesbeke B, Erdos K, Fernandez R, Gray A, Haseeb M, Jupp S, Penim F, Pommier C, Rocca-Serra P, Courtot M, Coppens F. Liyanage I, et al. Among authors: rocca serra p. Bioinformatics. 2022 May 26;38(11):3141-3142. doi: 10.1093/bioinformatics/btac195. Bioinformatics. 2022. PMID: 35380605 Free PMC article.
107 results