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57 results

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Page 1
A reference map of the human binary protein interactome.
Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Coté AG, Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF, Kishore N, Knapp JJ, Kovács IA, Lemmens I, Mee MW, Mellor JC, Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM, Simonovsky E, Taşan M, Tejeda A, Tropepe V, Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP, Calderwood MA. Luck K, et al. Among authors: gebbia m. Nature. 2020 Apr;580(7803):402-408. doi: 10.1038/s41586-020-2188-x. Epub 2020 Apr 8. Nature. 2020. PMID: 32296183 Free PMC article.
Shifting landscapes of human MTHFR missense-variant effects.
Weile J, Kishore N, Sun S, Maaieh R, Verby M, Li R, Fotiadou I, Kitaygorodsky J, Wu Y, Holenstein A, Bürer C, Blomgren L, Yang S, Nussbaum R, Rozen R, Watkins D, Gebbia M, Kozich V, Garton M, Froese DS, Roth FP. Weile J, et al. Among authors: gebbia m. Am J Hum Genet. 2021 Jul 1;108(7):1283-1300. doi: 10.1016/j.ajhg.2021.05.009. Am J Hum Genet. 2021. PMID: 34214447 Free PMC article.
A missense variant effect map for the human tumor-suppressor protein CHK2.
Gebbia M, Zimmerman D, Jiang R, Nguyen M, Weile J, Li R, Gavac M, Kishore N, Sun S, Boonen RA, Hamilton R, Dines JN, Wahl A, Reuter J, Johnson B, Fowler DM, Couch FJ, van Attikum H, Roth FP. Gebbia M, et al. Am J Hum Genet. 2024 Dec 5;111(12):2675-2692. doi: 10.1016/j.ajhg.2024.10.013. Am J Hum Genet. 2024. PMID: 39642869 Free PMC article.
Widespread variation in molecular interactions and regulatory properties among transcription factor isoforms.
Lambourne L, Mattioli K, Santoso C, Sheynkman G, Inukai S, Kaundal B, Berenson A, Spirohn-Fitzgerald K, Bhattacharjee A, Rothman E, Shrestha S, Laval F, Carroll BS, Plassmeyer SP, Emenecker RJ, Yang Z, Bisht D, Sewell JA, Li G, Prasad A, Phanor S, Lane R, Moyer DC, Hunt T, Balcha D, Gebbia M, Twizere JC, Hao T, Holehouse AS, Frankish A, Riback JA, Salomonis N, Calderwood MA, Hill DE, Sahni N, Vidal M, Bulyk ML, Fuxman Bass JI. Lambourne L, et al. Among authors: gebbia m. Mol Cell. 2025 Apr 3;85(7):1445-1466.e13. doi: 10.1016/j.molcel.2025.03.004. Epub 2025 Mar 26. Mol Cell. 2025. PMID: 40147441
Landscapes of missense variant impact for human superoxide dismutase 1.
Axakova A, Ding M, Cote AG, Subramaniam R, Senguttuvan V, Zhang H, Weile J, Douville SV, Gebbia M, Al-Chalabi A, Wahl A, Reuter J, Hurt J, Mitchell A, Fradette S, Andersen PM, van Loggerenberg W, Roth FP. Axakova A, et al. Among authors: gebbia m. bioRxiv [Preprint]. 2025 Feb 28:2025.02.25.640191. doi: 10.1101/2025.02.25.640191. bioRxiv. 2025. Update in: Am J Hum Genet. 2025 Oct 2;112(10):2295-2315. doi: 10.1016/j.ajhg.2025.08.019. PMID: 40060668 Free PMC article. Updated. Preprint.
Landscapes of missense variant impact for human superoxide dismutase 1.
Axakova A, Ding M, Cote AG, Subramaniam R, Senguttuvan V, Zhang H, Weile J, Douville SV, Gebbia M, Al-Chalabi A, Wahl A, Reuter J, Hurt J, Mitchell AA, Fradette S, Andersen PM, van Loggerenberg W, Roth FP. Axakova A, et al. Among authors: gebbia m. Am J Hum Genet. 2025 Oct 2;112(10):2295-2315. doi: 10.1016/j.ajhg.2025.08.019. Epub 2025 Sep 15. Am J Hum Genet. 2025. PMID: 40957416 Free article.
A comprehensive map of human glucokinase variant activity.
Gersing S, Cagiada M, Gebbia M, Gjesing AP, Coté AG, Seesankar G, Li R, Tabet D, Weile J, Stein A, Gloyn AL, Hansen T, Roth FP, Lindorff-Larsen K, Hartmann-Petersen R. Gersing S, et al. Among authors: gebbia m. Genome Biol. 2023 Apr 26;24(1):97. doi: 10.1186/s13059-023-02935-8. Genome Biol. 2023. PMID: 37101203 Free PMC article.
ME2 Deficiency Is Associated With Recessive Neurodevelopmental Disorder.
Almontashiri NAM, Alharby E, Saleh M, Abu-Farha M, Alasmari A, Gebbia M, Hiesl C, Peake RWA, Amr SS, Boles E, Roth FP, Abubaker J. Almontashiri NAM, et al. Among authors: gebbia m. Clin Genet. 2025 Feb;107(2):201-207. doi: 10.1111/cge.14632. Epub 2024 Oct 14. Clin Genet. 2025. PMID: 39401966
Systematic analysis of bypass suppression of essential genes.
van Leeuwen J, Pons C, Tan G, Wang ZY, Hou J, Weile J, Gebbia M, Liang W, Shuteriqi E, Li Z, Lopes M, Ušaj M, Dos Santos Lopes A, van Lieshout N, Myers CL, Roth FP, Aloy P, Andrews BJ, Boone C. van Leeuwen J, et al. Among authors: gebbia m. Mol Syst Biol. 2020 Sep;16(9):e9828. doi: 10.15252/msb.20209828. Mol Syst Biol. 2020. PMID: 32939983 Free PMC article.
Exploring genetic suppression interactions on a global scale.
van Leeuwen J, Pons C, Mellor JC, Yamaguchi TN, Friesen H, Koschwanez J, Ušaj MM, Pechlaner M, Takar M, Ušaj M, VanderSluis B, Andrusiak K, Bansal P, Baryshnikova A, Boone CE, Cao J, Cote A, Gebbia M, Horecka G, Horecka I, Kuzmin E, Legro N, Liang W, van Lieshout N, McNee M, San Luis BJ, Shaeri F, Shuteriqi E, Sun S, Yang L, Youn JY, Yuen M, Costanzo M, Gingras AC, Aloy P, Oostenbrink C, Murray A, Graham TR, Myers CL, Andrews BJ, Roth FP, Boone C. van Leeuwen J, et al. Among authors: gebbia m. Science. 2016 Nov 4;354(6312):aag0839. doi: 10.1126/science.aag0839. Science. 2016. PMID: 27811238 Free PMC article.
57 results