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Page 1
Resources and tools for rare disease variant interpretation.
Licata L, Via A, Turina P, Babbi G, Benevenuta S, Carta C, Casadio R, Cicconardi A, Facchiano A, Fariselli P, Giordano D, Isidori F, Marabotti A, Martelli PL, Pascarella S, Pinelli M, Pippucci T, Russo R, Savojardo C, Scafuri B, Valeriani L, Capriotti E. Licata L, et al. Among authors: martelli pl. Front Mol Biosci. 2023 May 10;10:1169109. doi: 10.3389/fmolb.2023.1169109. eCollection 2023. Front Mol Biosci. 2023. PMID: 37234922 Free PMC article. Review.
Critical assessment of variant prioritization methods for rare disease diagnosis within the Rare Genomes Project.
Stenton SL, O'Leary M, Lemire G, VanNoy GE, DiTroia S, Ganesh VS, Groopman E, O'Heir E, Mangilog B, Osei-Owusu I, Pais LS, Serrano J, Singer-Berk M, Weisburd B, Wilson M, Austin-Tse C, Abdelhakim M, Althagafi A, Babbi G, Bellazzi R, Bovo S, Carta MG, Casadio R, Coenen PJ, De Paoli F, Floris M, Gajapathy M, Hoehndorf R, Jacobsen JOB, Joseph T, Kamandula A, Katsonis P, Kint C, Lichtarge O, Limongelli I, Lu Y, Magni P, Mamidi TKK, Martelli PL, Mulargia M, Nicora G, Nykamp K, Pejaver V, Peng Y, Pham THC, Podda MS, Rao A, Rizzo E, Saipradeep VG, Savojardo C, Schols P, Shen Y, Sivadasan N, Smedley D, Soru D, Srinivasan R, Sun Y, Sunderam U, Tan W, Tiwari N, Wang X, Wang Y, Williams A, Worthey EA, Yin R, You Y, Zeiberg D, Zucca S, Bakolitsa C, Brenner SE, Fullerton SM, Radivojac P, Rehm HL, O'Donnell-Luria A. Stenton SL, et al. Among authors: martelli pl. medRxiv [Preprint]. 2023 Aug 4:2023.08.02.23293212. doi: 10.1101/2023.08.02.23293212. medRxiv. 2023. PMID: 37577678 Free PMC article. Preprint.
The pros and cons of predicting protein contact maps.
Bartoli L, Capriotti E, Fariselli P, Martelli PL, Casadio R. Bartoli L, et al. Among authors: martelli pl. Methods Mol Biol. 2008;413:199-217. doi: 10.1007/978-1-59745-574-9_8. Methods Mol Biol. 2008. PMID: 18075167 Review.
A Glance into MTHFR Deficiency at a Molecular Level.
Savojardo C, Babbi G, Baldazzi D, Martelli PL, Casadio R. Savojardo C, et al. Among authors: martelli pl. Int J Mol Sci. 2021 Dec 23;23(1):167. doi: 10.3390/ijms23010167. Int J Mol Sci. 2021. PMID: 35008593 Free PMC article.
PredGPI: a GPI-anchor predictor.
Pierleoni A, Martelli PL, Casadio R. Pierleoni A, et al. Among authors: martelli pl. BMC Bioinformatics. 2008 Sep 23;9:392. doi: 10.1186/1471-2105-9-392. BMC Bioinformatics. 2008. PMID: 18811934 Free PMC article.
127 results