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

Year Number of Results
1993 1
1994 1
1995 3
1996 3
1997 3
1998 6
1999 6
2000 6
2001 6
2002 5
2003 10
2004 7
2005 18
2006 13
2007 16
2008 7
2009 12
2010 9
2011 10
2012 8
2013 14
2014 4
2015 11
2016 17
2017 14
2018 4
2019 7
2020 6
2021 6
2022 10
2023 7
2024 9
2025 5

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239 results

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Page 1
Demystifying gene(tic) therapies.
Chan CH, Pearce DA. Chan CH, et al. Among authors: pearce da. Eur J Med Genet. 2024 Oct;71:104963. doi: 10.1016/j.ejmg.2024.104963. Epub 2024 Jul 26. Eur J Med Genet. 2024. PMID: 39069254 Free article.
Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon.
Delgado-Vega AM, Cederroth H, Taylan F, Ekholm K, Ek M, Thonberg H, Jemt A, Nilsson D, Eisfeldt J, Bilgrav Saether K, Höijer I, Akgun-Dogan O, Asano Y, Barakat TS, Batkovskyte D, Baynam G, Bodamer O, Chetruengchai W, Corcoran P, Couse M, Danis D, Demidov G, Dohi E, Erhardsson M, Fernandez-Luna L, Fujiwara T, Garg N, Giugliani R, Gonzaga-Jauregui C, Grigelioniene G, Groza T, Gunnarsson C, Hammarsjö A, Hammond CK, Hatirnaz Ng Ö, Hesketh S, Hettiarachchi D, Johansson Soller M, Kirmani UA, Kjellberg M, Kvarnung M, Kvlividze O, Lagerstedt-Robinson K, Lasko P, Lassmann T, Lau LYS, Laurie S, Lim WK, Liu Z, Lysenkova Wiklander M, Makay P, Maiga AB, Maya-González C, Meyn MS, Neethiraj R, Nigro V, Nordgren F, Nordlund J, Orrsjö S, Ottosson J, Ozbek U, Özdemir Ö, Partin C, Pearce DA, Peck R, Pedersen A, Pettersson M, Pongpanich M, Posada de la Paz M, Ramani A, Romero JA, Romero VI, Rosenquist R, Saw AM, Spencer M, Stattin EL, Srichomthong C, Tapia-Paez I, Taruscio D, Taylor JP, Tkemaladze T, Tully I, Tümer Z, van Zelst-Stams WAG, Verloes A, Västerviga E, Wang S, Yang R, Yamamoto S, Yépez VA, Zhang Q, Shotelersuk V, Wiafe SA, Alanay Y, Botto LD, Kirmani S, Lumaka A, Palmer EE, Puri RD,… See abstract for full author list ➔ Delgado-Vega AM, et al. Among authors: pearce da. Nat Genet. 2024 Nov;56(11):2287-2294. doi: 10.1038/s41588-024-01941-1. Nat Genet. 2024. PMID: 39433890 Free PMC article.
Erasing stigma around rare diseases.
Pearce DA, Baynam G. Pearce DA, et al. Lancet Glob Health. 2024 Jul;12(7):e1092. doi: 10.1016/S2214-109X(24)00219-5. Epub 2024 May 29. Lancet Glob Health. 2024. PMID: 38823408 Free article. No abstract available.
Microbial diversity and biogeography in Arctic soils.
Malard LA, Pearce DA. Malard LA, et al. Among authors: pearce da. Environ Microbiol Rep. 2018 Dec;10(6):611-625. doi: 10.1111/1758-2229.12680. Epub 2018 Aug 20. Environ Microbiol Rep. 2018. PMID: 30028082 Review.
Another disorder finds its gene.
Ramirez-Montealegre D, Rothberg PG, Pearce DA. Ramirez-Montealegre D, et al. Among authors: pearce da. Brain. 2006 Jun;129(Pt 6):1353-6. doi: 10.1093/brain/awl132. Brain. 2006. PMID: 16738059 Review. No abstract available.
Ancient environmental microbiomes and the cryosphere.
Williams AD, Leung VW, Tang JW, Hidekazu N, Suzuki N, Clarke AC, Pearce DA, Lam TT. Williams AD, et al. Among authors: pearce da. Trends Microbiol. 2025 Feb;33(2):233-249. doi: 10.1016/j.tim.2024.09.010. Epub 2024 Oct 31. Trends Microbiol. 2025. PMID: 39487079 Free article. Review.
Cell biology of the NCL proteins: What they do and don't do.
Cárcel-Trullols J, Kovács AD, Pearce DA. Cárcel-Trullols J, et al. Among authors: pearce da. Biochim Biophys Acta. 2015 Oct;1852(10 Pt B):2242-55. doi: 10.1016/j.bbadis.2015.04.027. Epub 2015 May 8. Biochim Biophys Acta. 2015. PMID: 25962910 Free article. Review.
Targeting shared molecular etiologies to accelerate drug development for rare diseases.
Zanello G, Garrido-Estepa M, Crespo A, O'Connor D, Nabbout R, Waters C, Hall A, Taglialatela M, Chan CH, Pearce DA, Dooms M, Brooks PJ. Zanello G, et al. Among authors: pearce da. EMBO Mol Med. 2023 Jul 10;15(7):e17159. doi: 10.15252/emmm.202217159. Epub 2023 Jun 27. EMBO Mol Med. 2023. PMID: 37366158 Free PMC article. Review.
239 results