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Year Number of Results
1975 1
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1994 1
1998 1
1999 2
2000 1
2001 2
2002 2
2003 3
2004 1
2005 4
2006 2
2010 2
2012 1
2013 3
2014 2
2015 2
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2017 2
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2025 8

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86 results

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Page 1
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. Among authors: veal c. Gigascience. 2024 Jan 2;13:giae058. doi: 10.1093/gigascience/giae058. Gigascience. 2024. PMID: 39302238 Free PMC article.
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.
Brain MRI signatures across sex and CSF Alzheimer's disease biomarkers.
Cheng Y, He Y, Gopinath K, Billot B, Iglesias JE, Wu CY, Dodge H, Wills AM, Carlyle B, Kivisäkk P, Hyman BT, Arnold SE, Das S; Alzheimer’s Disease Neuroimaging Initiative and for the European Prevention of Alzheimer’s Disease (EPAD) Consortium. Cheng Y, et al. Brain Commun. 2025 May 30;7(3):fcaf210. doi: 10.1093/braincomms/fcaf210. eCollection 2025. Brain Commun. 2025. PMID: 40503330 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.
Re-expansion, re-oxygenation, and rethinking.
Jackson RM, Veal CF. Jackson RM, et al. Among authors: veal cf. Am J Med Sci. 1989 Jul;298(1):44-50. doi: 10.1097/00000441-198907000-00009. Am J Med Sci. 1989. PMID: 2665485 Review.
New technologies for DNA analysis--a review of the READNA Project.
McGinn S, Bauer D, Brefort T, Dong L, El-Sagheer A, Elsharawy A, Evans G, Falk-Sörqvist E, Forster M, Fredriksson S, Freeman P, Freitag C, Fritzsche J, Gibson S, Gullberg M, Gut M, Heath S, Heath-Brun I, Heron AJ, Hohlbein J, Ke R, Lancaster O, Le Reste L, Maglia G, Marie R, Mauger F, Mertes F, Mignardi M, Moens L, Oostmeijer J, Out R, Pedersen JN, Persson F, Picaud V, Rotem D, Schracke N, Sengenes J, Stähler PF, Stade B, Stoddart D, Teng X, Veal CD, Zahra N, Bayley H, Beier M, Brown T, Dekker C, Ekström B, Flyvbjerg H, Franke A, Guenther S, Kapanidis AN, Kaye J, Kristensen A, Lehrach H, Mangion J, Sauer S, Schyns E, Tost J, van Helvoort JM, van der Zaag PJ, Tegenfeldt JO, Brookes AJ, Mir K, Nilsson M, Willcocks JP, Gut IG. McGinn S, et al. Among authors: veal cd. N Biotechnol. 2016 May 25;33(3):311-30. doi: 10.1016/j.nbt.2015.10.003. Epub 2015 Oct 26. N Biotechnol. 2016. PMID: 26514324 Review.
Solving unsolved rare neurological diseases-a Solve-RD viewpoint.
Schüle R, Timmann D, Erasmus CE, Reichbauer J, Wayand M; Solve-RD-DITF-RND; van de Warrenburg B, Schöls L, Wilke C, Bevot A, Zuchner S, Beltran S, Laurie S, Matalonga L, Graessner H, Synofzik M; Solve-RD Consortium. Schüle R, et al. Eur J Hum Genet. 2021 Sep;29(9):1332-1336. doi: 10.1038/s41431-021-00901-1. Epub 2021 May 10. Eur J Hum Genet. 2021. PMID: 33972714 Free PMC article. No abstract available.
In Reply to Kandola and Minhas.
Veal CT. Veal CT. Acad Med. 2022 Mar 1;97(3):320-321. doi: 10.1097/ACM.0000000000004543. Acad Med. 2022. PMID: 35212677 No abstract available.
Inherited retinal disease pathway in the UK: a patient perspective and the potential of AI.
Wong W, Sumodhee D, Morris T, Tailor B, Hollyhead C, Woof WA, Archer S, Veal C, Lobo L, Al-Khuzaei S, Daich Varela M, C de Guimaraes TA, Gomes M, Shah M, Moosajee M, Downes SM, Madhusudhan S, Mahroo OA, Webster AR, Michaelides M, Pontikos N. Wong W, et al. Among authors: veal c. Br J Ophthalmol. 2025 Oct 23;109(11):1266-1271. doi: 10.1136/bjo-2024-327074. Br J Ophthalmol. 2025. PMID: 40345840 Free PMC article.
86 results