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

Year Number of Results
1969 1
2008 1
2010 2
2011 4
2012 5
2013 1
2014 1
2015 1
2016 1
2018 2
2019 10
2020 19
2021 37
2022 29
2023 30
2024 16

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133 results

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Page 1
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.
Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases.
Bullich G, Matalonga L, Pujadas M, Papakonstantinou A, Piscia D, Tonda R, Artuch R, Gallano P, Garrabou G, González JR, Grinberg D, Guitart M, Laurie S, Lázaro C, Luengo C, Martí R, Milà M, Ovelleiro D, Parra G, Pujol A, Tizzano E, Macaya A, Palau F, Ribes A, Pérez-Jurado LA, Beltran S; Undiagnosed Rare Disease Program of Catalonia (URD-Cat) Consortium. Bullich G, et al. J Mol Diagn. 2022 May;24(5):529-542. doi: 10.1016/j.jmoldx.2022.02.003. J Mol Diagn. 2022. PMID: 35569879 Free article.
The novel HLA-DQB1 allele, DQB1*06:443.
Loginova M, Smirnova D, Paramonov I. Loginova M, et al. Among authors: paramonov i. HLA. 2023 Jan;101(1):91-92. doi: 10.1111/tan.14799. Epub 2022 Sep 13. HLA. 2023. PMID: 36056767
Characterization of the novel HLA-C*03:598 allele.
Loginova M, Smirnova D, Paramonov I. Loginova M, et al. Among authors: paramonov i. HLA. 2022 Sep;100(3):277-278. doi: 10.1111/tan.14683. Epub 2022 Jun 8. HLA. 2022. PMID: 35616014
Chechens from Chechen Republic, Russia.
Loginova M, Smirnova D, Kutyavina S, Makhova O, Kashin K, Paramonov I. Loginova M, et al. Among authors: paramonov i. HLA. 2020 Jul;96(1):83-84. doi: 10.1111/tan.13916. Epub 2020 May 6. HLA. 2020. PMID: 32336022 No abstract available.
The novel HLA-A allele, HLA-A*01:353.
Loginova M, Kutyavina S, Paramonov I. Loginova M, et al. Among authors: paramonov i. HLA. 2021 Feb;97(2):134-136. doi: 10.1111/tan.14097. Epub 2020 Oct 16. HLA. 2021. PMID: 33034166
The novel HLA-B allele, HLA-B*55:01:27.
Loginova M, Kutyavina S, Smirnova D, Paramonov I, Zarubin M. Loginova M, et al. Among authors: paramonov i. HLA. 2021 Jul;98(1):64-65. doi: 10.1111/tan.14314. Epub 2021 May 25. HLA. 2021. PMID: 34013653
133 results