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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
2025 3

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99 results

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Page 1
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.
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.
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.
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.
[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.
Characterization of severe COL6-related dystrophy due to the recurrent variant COL6A1 c.930+189C>T.
Foley AR, Bolduc V, Guirguis F, Donkervoort S, Hu Y, Orbach R, McCarty RM, Sarathy A, Norato G, Cummings BB, Lek M, Sarkozy A, Butterfield RJ, Kirschner J, Nascimento A, Natera-de Benito D, Quijano-Roy S, Stojkovic T, Merlini L, Comi G, Ryan M, McDonald D, Munot P, Yoon G, Leung E, Finanger E, Leach ME, Collins J, Tian C, Mohassel P, Neuhaus SB, Saade D, Cocanougher BT, Chu ML, Scavina M, Grosmann C, Richardson R, Kossak BD, Gospe SM Jr, Bhise V, Taurina G, Lace B, Troncoso M, Shohat M, Shalata A, Chan SHS, Jokela M, Palmio J, Haliloğlu G, Jou C, Gartioux C, Solomon-Degefa H, Freiburg CD, Schiavinato A, Zhou H, Aguti S, Nevo Y, Nishino I, Jimenez-Mallebrera C, Lamandé SR, Allamand V, Gualandi F, Ferlini A, MacArthur DG, Wilton SD, Wagener R, Bertini E, Muntoni F, Bönnemann CG. Foley AR, et al. Among authors: allamand v. Brain. 2025 Sep 3;148(9):3215-3227. doi: 10.1093/brain/awaf116. Brain. 2025. PMID: 40177858 Free PMC article.
SPNS1 variants cause multiorgan disease and implicate lysophospholipid transport as critical for mTOR-regulated lipid homeostasis.
He M, Ding M, Chocholouskova M, Chin CF, Engvall M, Malmgren H, Wagner M, Lauffer MC, Heisinger J, Malicdan MCV, Allamand V, Durbeej M, Delgado Vega A, Sejersen T, Nordgren A, Torta F, Silver DL. He M, et al. Among authors: allamand v. J Clin Invest. 2025 Jul 3;135(17):e193099. doi: 10.1172/JCI193099. eCollection 2025 Sep 2. J Clin Invest. 2025. PMID: 40608416 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.
Adhalin gene polymorphism.
Allamand V, Leturcq F, Piccolo F, Jeanpierre M, Azibi K, Roberds SL, Lim LE, Campbell KP, Beckmann JS, Kaplan JC. Allamand V, et al. Hum Mol Genet. 1994 Dec;3(12):2269. doi: 10.1093/hmg/3.12.2269. Hum Mol Genet. 1994. PMID: 7881446 No abstract available.
99 results