Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2016 1
2017 3
2018 1
2019 11
2020 1
2021 3
2022 3
2023 6
2024 4

Text availability

Article attribute

Article type

Publication date

Search Results

31 results

Results by year

Filters applied: . Clear all
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: babbi g. 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: babbi g. medRxiv [Preprint]. 2023 Aug 4:2023.08.02.23293212. doi: 10.1101/2023.08.02.23293212. medRxiv. 2023. PMID: 37577678 Free PMC article. Preprint.
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: babbi g. Int J Mol Sci. 2021 Dec 23;23(1):167. doi: 10.3390/ijms23010167. Int J Mol Sci. 2021. PMID: 35008593 Free PMC article.
Mouse genomic associations with in vitro sensitivity to simulated space radiation.
Cekanaviciute E, Tran D, Nguyen H, Lopez Macha A, Pariset E, Langley S, Babbi G, Malkani S, Penninckx S, Schisler JC, Nguyen T, Karpen GH, Costes SV. Cekanaviciute E, et al. Among authors: babbi g. Life Sci Space Res (Amst). 2023 Feb;36:47-58. doi: 10.1016/j.lssr.2022.07.006. Epub 2022 Jul 28. Life Sci Space Res (Amst). 2023. PMID: 36682829 Free article.
Assessing predictions on fitness effects of missense variants in calmodulin.
Zhang J, Kinch LN, Cong Q, Katsonis P, Lichtarge O, Savojardo C, Babbi G, Martelli PL, Capriotti E, Casadio R, Garg A, Pal D, Weile J, Sun S, Verby M, Roth FP, Grishin NV. Zhang J, et al. Among authors: babbi g. Hum Mutat. 2019 Sep;40(9):1463-1473. doi: 10.1002/humu.23857. Epub 2019 Sep 3. Hum Mutat. 2019. PMID: 31283071 Free PMC article.
31 results