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

Year Number of Results
2008 1
2010 1
2011 4
2012 1
2013 6
2014 2
2015 5
2016 3
2017 4
2018 8
2019 3
2020 5
2022 4
2023 6
2024 3

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52 results

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Page 1
Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration.
Vetro A, Pelorosso C, Balestrini S, Masi A, Hambleton S, Argilli E, Conti V, Giubbolini S, Barrick R, Bergant G, Writzl K, Bijlsma EK, Brunet T, Cacheiro P, Mei D, Devlin A, Hoffer MJV, Machol K, Mannaioni G, Sakamoto M, Menezes MP, Courtin T, Sherr E, Parra R, Richardson R, Roscioli T, Scala M, von Stülpnagel C, Smedley D; TMEM63B collaborators; Genomics England Research Consortium; Torella A, Tohyama J, Koichihara R, Hamada K, Ogata K, Suzuki T, Sugie A, van der Smagt JJ, van Gassen K, Valence S, Vittery E, Malone S, Kato M, Matsumoto N, Ratto GM, Guerrini R. Vetro A, et al. Am J Hum Genet. 2023 Aug 3;110(8):1356-1376. doi: 10.1016/j.ajhg.2023.06.008. Epub 2023 Jul 7. Am J Hum Genet. 2023. PMID: 37421948 Free PMC article.
Widespread genomic influences on phenotype in Dravet syndrome, a 'monogenic' condition.
Martins Custodio H, Clayton LM, Bellampalli R, Pagni S, Silvennoinen K, Caswell R; Genomics England Research Consortium; Brunklaus A, Guerrini R, Koeleman BPC, Lemke JR, Møller RS, Scheffer IE, Weckhuysen S, Zara F, Zuberi S, Kuchenbaecker K, Balestrini S, Mills JD, Sisodiya SM. Martins Custodio H, et al. Brain. 2023 Sep 1;146(9):3885-3897. doi: 10.1093/brain/awad111. Brain. 2023. PMID: 37006128 Free PMC article.
Abrogation of MAP4K4 protein function causes congenital anomalies in humans and zebrafish.
Patterson V, Ullah F, Bryant L, Griffin JN, Sidhu A, Saliganan S, Blaile M, Saenz MS, Smith R, Ellingwood S, Grange DK, Hu X, Mireguli M, Luo Y, Shen Y, Mulhern M, Zackai E, Ritter A, Izumi K, Hoefele J, Wagner M, Riedhammer KM, Seitz B, Robin NH, Goodloe D, Mignot C, Keren B, Cox H, Jarvis J, Hempel M, Gibson CF, Tran Mau-Them F, Vitobello A, Bruel AL, Sorlin A, Mehta S, Raymond FL, Gilmore K, Powell BC, Weck K, Li C, Vulto-van Silfhout AT, Giacomini T, Mancardi MM, Accogli A, Salpietro V, Zara F, Vora NL, Davis EE, Burdine R, Bhoj E. Patterson V, et al. Among authors: griffin jn. Sci Adv. 2023 Apr 28;9(17):eade0631. doi: 10.1126/sciadv.ade0631. Epub 2023 Apr 26. Sci Adv. 2023. PMID: 37126546 Free PMC article.
Editorial: Xenopus Models of Organogenesis and Disease.
Griffin JN, Liu KJ, Sempou E. Griffin JN, et al. Front Physiol. 2020 May 29;11:534. doi: 10.3389/fphys.2020.00534. eCollection 2020. Front Physiol. 2020. PMID: 32547416 Free PMC article. No abstract available.
RAPGEF5 Regulates Nuclear Translocation of β-Catenin.
Griffin JN, Del Viso F, Duncan AR, Robson A, Hwang W, Kulkarni S, Liu KJ, Khokha MK. Griffin JN, et al. Dev Cell. 2018 Jan 22;44(2):248-260.e4. doi: 10.1016/j.devcel.2017.12.001. Epub 2017 Dec 28. Dev Cell. 2018. PMID: 29290587 Free PMC article.
Top ten priorities for global saltmarsh restoration, conservation and ecosystem service research.
Pétillon J, McKinley E, Alexander M, Adams JB, Angelini C, Balke T, Griffin JN, Bouma T, Hacker S, He Q, Hensel MJS, Ibáñez C, Macreadie PI, Martino S, Sharps E, Ballinger R, de Battisti D, Beaumont N, Burdon D, Daleo P, D'Alpaos A, Duggan-Edwards M, Garbutt A, Jenkins S, Ladd CJT, Lewis H, Mariotti G, McDermott O, Mills R, Möller I, Nolte S, Pagès JF, Silliman B, Zhang L, Skov MW. Pétillon J, et al. Among authors: griffin jn. Sci Total Environ. 2023 Nov 10;898:165544. doi: 10.1016/j.scitotenv.2023.165544. Epub 2023 Jul 13. Sci Total Environ. 2023. PMID: 37453706 Free article. Review.
Mendelian gene identification through mouse embryo viability screening.
Cacheiro P, Westerberg CH, Mager J, Dickinson ME, Nutter LMJ, Muñoz-Fuentes V, Hsu CW, Van den Veyver IB, Flenniken AM, McKerlie C, Murray SA, Teboul L, Heaney JD, Lloyd KCK, Lanoue L, Braun RE, White JK, Creighton AK, Laurin V, Guo R, Qu D, Wells S, Cleak J, Bunton-Stasyshyn R, Stewart M, Harrisson J, Mason J, Haseli Mashhadi H, Parkinson H, Mallon AM; International Mouse Phenotyping Consortium; Genomics England Research Consortium; Smedley D. Cacheiro P, et al. Genome Med. 2022 Oct 13;14(1):119. doi: 10.1186/s13073-022-01118-7. Genome Med. 2022. PMID: 36229886 Free PMC article.
A Pleistocene legacy structures variation in modern seagrass ecosystems.
Duffy JE, Stachowicz JJ, Reynolds PL, Hovel KA, Jahnke M, Sotka EE, Boström C, Boyer KE, Cusson M, Eklöf J, Engelen AH, Eriksson BK, Fodrie FJ, Griffin JN, Hereu CM, Hori M, Hughes AR, Ivanov MV, Jorgensen P, Kruschel C, Lee KS, Lefcheck JS, Moksnes PO, Nakaoka M, O'Connor MI, O'Connor NE, Orth RJ, Peterson BJ, Reiss H, Reiss K, Richardson JP, Rossi F, Ruesink JL, Schultz ST, Thormar J, Tomas F, Unsworth R, Voigt E, Whalen MA, Ziegler SL, Olsen JL. Duffy JE, et al. Among authors: griffin jn. Proc Natl Acad Sci U S A. 2022 Aug 9;119(32):e2121425119. doi: 10.1073/pnas.2121425119. Epub 2022 Aug 1. Proc Natl Acad Sci U S A. 2022. PMID: 35914147 Free PMC article.
52 results