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

Year Number of Results
2005 1
2006 4
2007 2
2008 2
2009 2
2010 1
2011 1
2012 1
2014 1
2015 2
2016 4
2017 5
2018 6
2019 3
2020 5
2021 7
2022 9
2023 3
2024 2

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53 results

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Page 1
ZAKα-driven ribotoxic stress response activates the human NLRP1 inflammasome.
Robinson KS, Toh GA, Rozario P, Chua R, Bauernfried S, Sun Z, Firdaus MJ, Bayat S, Nadkarni R, Poh ZS, Tham KC, Harapas CR, Lim CK, Chu W, Tay CWS, Tan KY, Zhao T, Bonnard C, Sobota R, Connolly JE, Common J, Masters SL, Chen KW, Ho L, Wu B, Hornung V, Zhong FL. Robinson KS, et al. Among authors: bonnard c. Science. 2022 Jul 15;377(6603):328-335. doi: 10.1126/science.abl6324. Epub 2022 Jul 14. Science. 2022. PMID: 35857590 Free PMC article.
Diphtheria toxin activates ribotoxic stress and NLRP1 inflammasome-driven pyroptosis.
Robinson KS, Toh GA, Firdaus MJ, Tham KC, Rozario P, Lim CK, Toh YX, Lau ZH, Binder SC, Mayer J, Bonnard C, Schmidt FI, Common JEA, Zhong FL. Robinson KS, et al. Among authors: bonnard c. J Exp Med. 2023 Oct 2;220(10):e20230105. doi: 10.1084/jem.20230105. Epub 2023 Aug 29. J Exp Med. 2023. PMID: 37642997 Free PMC article.
Discovery of a genetic module essential for assigning left-right asymmetry in humans and ancestral vertebrates.
Szenker-Ravi E, Ott T, Khatoo M, Moreau de Bellaing A, Goh WX, Chong YL, Beckers A, Kannesan D, Louvel G, Anujan P, Ravi V, Bonnard C, Moutton S, Schoen P, Fradin M, Colin E, Megarbane A, Daou L, Chehab G, Di Filippo S, Rooryck C, Deleuze JF, Boland A, Arribard N, Eker R, Tohari S, Ng AY, Rio M, Lim CT, Eisenhaber B, Eisenhaber F, Venkatesh B, Amiel J, Crollius HR, Gordon CT, Gossler A, Roy S, Attie-Bitach T, Blum M, Bouvagnet P, Reversade B. Szenker-Ravi E, et al. Among authors: bonnard c. Nat Genet. 2022 Jan;54(1):62-72. doi: 10.1038/s41588-021-00970-4. Epub 2021 Dec 13. Nat Genet. 2022. PMID: 34903892
Inactivation of DRG1, encoding a translation factor GTPase, causes a recessive neurodevelopmental disorder.
Westrip CAE, Paul F, Al-Murshedi F, Qaitoon H, Cham B, Fletcher SC, Hendrix E, Boora U, Ng AYJ, Bonnard C, Najafi M, Alawbathani S, Lambert I, Fox G, Venkatesh B, Bertoli-Avella A, Tan ES, Al-Maawali A, Reversade B, Coleman ML. Westrip CAE, et al. Among authors: bonnard c. Genet Med. 2023 Sep;25(9):100893. doi: 10.1016/j.gim.2023.100893. Epub 2023 May 11. Genet Med. 2023. PMID: 37179472 Free article.
A progeroid syndrome caused by a deep intronic variant in TAPT1 is revealed by RNA/SI-NET sequencing.
Nabavizadeh N, Bressin A, Shboul M, Moreno Traspas R, Chia PH, Bonnard C, Szenker-Ravi E, Sarıbaş B, Beillard E, Altunoglu U, Hojati Z, Drutman S, Freier S, El-Khateeb M, Fathallah R, Casanova JL, Soror W, Arafat A, Escande-Beillard N, Mayer A, Reversade B. Nabavizadeh N, et al. Among authors: bonnard c. EMBO Mol Med. 2023 Feb 8;15(2):e16478. doi: 10.15252/emmm.202216478. Epub 2023 Jan 18. EMBO Mol Med. 2023. PMID: 36652330 Free PMC article.
Huriez syndrome: Additional pathogenic variants supporting allelism to SMARCAD syndrome.
Loh AYT, Špoljar S, Neo GYW, Escande-Beillard N, Leushacke M, Luijten MNH, Venkatesh B, Bonnard C, van Steensel MAM, Hamm H, Carmichael A, Rajan N, Carney TJ, Reversade B. Loh AYT, et al. Among authors: bonnard c. Am J Med Genet A. 2022 Jun;188(6):1752-1760. doi: 10.1002/ajmg.a.62703. Epub 2022 Feb 25. Am J Med Genet A. 2022. PMID: 35212137
RABENOSYN separation-of-function mutations uncouple endosomal recycling from lysosomal degradation, causing a distinct Mendelian disorder.
Paul F, Ng C, Mohamad Sahari UB, Nafissi S, Nilipoor Y, Tavasoli AR, Bonnard C, Wong PM, Nabavizadeh N, Altunoğlu U, Estiar MA, Majoie CB, Lee H, Nelson SF, Gan-Or Z, Rouleau GA, Van Veldhoven PP, Massie R, Hennekam RC, Kariminejad A, Reversade B. Paul F, et al. Among authors: bonnard c. Hum Mol Genet. 2022 Oct 28;31(21):3729-3740. doi: 10.1093/hmg/ddac120. Hum Mol Genet. 2022. PMID: 35652444
Ermin deficiency leads to compromised myelin, inflammatory milieu, and susceptibility to demyelinating insult.
Ziaei A, Garcia-Miralles M, Radulescu CI, Sidik H, Silvin A, Bae HG, Bonnard C, Yusof NABM, Ferrari Bardile C, Tan LJ, Ng AYJ, Tohari S, Dehghani L, Henry L, Yeo XY, Lee S, Venkatesh B, Langley SR, Shaygannejad V, Reversade B, Jung S, Ginhoux F, Pouladi MA. Ziaei A, et al. Among authors: bonnard c. Brain Pathol. 2022 Sep;32(5):e13064. doi: 10.1111/bpa.13064. Epub 2022 Mar 13. Brain Pathol. 2022. PMID: 35285112 Free PMC article.
53 results