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

Year Number of Results
1991 1
1992 1
1994 9
1995 4
1996 3
1997 2
1998 1
2000 4
2002 3
2003 3
2004 2
2006 1
2007 2
2008 5
2009 4
2010 4
2011 4
2012 4
2013 5
2014 4
2015 6
2016 3
2017 4
2019 2
2020 3
2021 9
2022 2
2023 5
2024 4

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96 results

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Page 1
Editorial: Extracellular matrix in homeostasis and cancer.
Carlos AR, Allamand V. Carlos AR, et al. Among authors: allamand v. Front Genet. 2022 Dec 9;13:1107969. doi: 10.3389/fgene.2022.1107969. eCollection 2022. Front Genet. 2022. PMID: 36568380 Free PMC article. No abstract available.
[2020: A year in parentheses].
Campana-Salort E, Bonne G, Allamand V, Andoni Urtizberea J. Campana-Salort E, et al. Among authors: allamand v. Med Sci (Paris). 2020 Dec;36 Hors série n° 2:5. doi: 10.1051/medsci/2020268. Epub 2021 Jan 11. Med Sci (Paris). 2020. PMID: 33427627 Free article. French. No abstract available.
Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14.
Jackson A, Lin SJ, Jones EA, Chandler KE, Orr D, Moss C, Haider Z, Ryan G, Holden S, Harrison M, Burrows N, Jones WD, Loveless M, Petree C, Stewart H, Low K, Donnelly D, Lovell S, Drosou K; Genomics England Research Consortium; Solve-RD consortium; Varshney GK, Banka S. Jackson A, et al. HGG Adv. 2023 Mar 3;4(2):100186. doi: 10.1016/j.xhgg.2023.100186. eCollection 2023 Apr 13. HGG Adv. 2023. PMID: 37009414 Free PMC article.
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing.
Denommé-Pichon AS, Matalonga L, de Boer E, Jackson A, Benetti E, Banka S, Bruel AL, Ciolfi A, Clayton-Smith J, Dallapiccola B, Duffourd Y, Ellwanger K, Fallerini C, Gilissen C, Graessner H, Haack TB, Havlovicova M, Hoischen A, Jean-Marçais N, Kleefstra T, López-Martín E, Macek M, Mencarelli MA, Moutton S, Pfundt R, Pizzi S, Posada M, Radio FC, Renieri A, Rooryck C, Ryba L, Safraou H, Schwarz M, Tartaglia M, Thauvin-Robinet C, Thevenon J, Tran Mau-Them F, Trimouille A, Votypka P, de Vries BBA, Willemsen MH, Zurek B, Verloes A, Philippe C; Solve-RD DITF-ITHACA; Solve-RD SNV-indel Working Group; Solve-RD Consortia; Orphanomix Group; Vitobello A, Vissers LELM, Faivre L. Denommé-Pichon AS, et al. Genet Med. 2023 Apr;25(4):100018. doi: 10.1016/j.gim.2023.100018. Epub 2023 Jan 20. Genet Med. 2023. PMID: 36681873 Free article.
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses.
Demidov G, Yaldiz B, Garcia-Pelaez J, de Boer E, Schuermans N, Van de Vondel L, Paramonov I, Johansson LF, Musacchia F, Benetti E, Bullich G, Sablauskas K, Beltran S, Gilissen C, Hoischen A, Ossowski S, de Voer R, Lohmann K, Oliveira C, Topf A, Vissers LELM; Solve-RD Consortium; Laurie S. Demidov G, et al. NPJ Genom Med. 2024 Oct 26;9(1):49. doi: 10.1038/s41525-024-00436-6. NPJ Genom Med. 2024. PMID: 39461972 Free PMC article.
Génétique.
Allamand V. Allamand V. Med Sci (Paris). 2015 Nov;31 Spec No 3:28-9. doi: 10.1051/medsci/201531s307. Epub 2015 Nov 6. Med Sci (Paris). 2015. PMID: 26546928 Free article. French. No abstract available.
An interconnected data infrastructure to support large-scale rare disease research.
Johansson LF, Laurie S, Spalding D, Gibson S, Ruvolo D, Thomas C, Piscia D, de Andrade F, Been G, Bijlsma M, Brunner H, Cimerman S, Dizjikan FY, Ellwanger K, Fernandez M, Freeberg M, van de Geijn GJ, Kanninga R, Maddi V, Mehtarizadeh M, Neerincx P, Ossowski S, Rath A, Roelofs-Prins D, Stok-Benjamins M, van der Velde KJ, Veal C, van der Vries G, Wadsley M, Warren G, Zurek B, Keane T, Graessner H, Beltran S, Swertz MA, Brookes AJ; Solve-RD consortium. Johansson LF, et al. Gigascience. 2024 Jan 2;13:giae058. doi: 10.1093/gigascience/giae058. Gigascience. 2024. PMID: 39302238 Free PMC article.
Selenoprotein function and muscle disease.
Lescure A, Rederstorff M, Krol A, Guicheney P, Allamand V. Lescure A, et al. Among authors: allamand v. Biochim Biophys Acta. 2009 Nov;1790(11):1569-74. doi: 10.1016/j.bbagen.2009.03.002. Epub 2009 Mar 11. Biochim Biophys Acta. 2009. PMID: 19285112 Review.
96 results