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

Year Number of Results
1975 1
1976 1
1977 1
1979 1
1983 3
1984 1
1985 1
1987 1
1988 1
1989 4
1990 3
1991 3
1992 1
1993 11
1994 4
1995 4
1996 5
1997 7
1998 11
1999 6
2000 4
2001 6
2002 5
2003 9
2004 9
2005 7
2006 6
2007 6
2008 11
2009 6
2010 9
2011 8
2012 14
2013 11
2014 11
2015 10
2016 9
2017 5
2018 10
2019 11
2020 12
2021 14
2022 8
2023 9
2024 8
2025 4

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270 results

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Page 1
Artificial Tears: A Systematic Review.
Semp DA, Beeson D, Sheppard AL, Dutta D, Wolffsohn JS. Semp DA, et al. Among authors: beeson d. Clin Optom (Auckl). 2023 Jan 10;15:9-27. doi: 10.2147/OPTO.S350185. eCollection 2023. Clin Optom (Auckl). 2023. PMID: 36647552 Free PMC article. Review.
Congenital myasthenic syndromes.
Henehan L, Beeson D, Palace J. Henehan L, et al. Among authors: beeson d. Pract Neurol. 2024 May 29;24(3):185-187. doi: 10.1136/pn-2024-004098. Pract Neurol. 2024. PMID: 38631903 No abstract available.
Congenital myasthenic syndromes.
Beeson D. Beeson D. Handb Clin Neurol. 2024;203:69-88. doi: 10.1016/B978-0-323-90820-7.00013-6. Handb Clin Neurol. 2024. PMID: 39174255 Review.
Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases.
Pagnamenta AT, Camps C, Giacopuzzi E, Taylor JM, Hashim M, Calpena E, Kaisaki PJ, Hashimoto A, Yu J, Sanders E, Schwessinger R, Hughes JR, Lunter G, Dreau H, Ferla M, Lange L, Kesim Y, Ragoussis V, Vavoulis DV, Allroggen H, Ansorge O, Babbs C, Banka S, Baños-Piñero B, Beeson D, Ben-Ami T, Bennett DL, Bento C, Blair E, Brasch-Andersen C, Bull KR, Cario H, Cilliers D, Conti V, Davies EG, Dhalla F, Dacal BD, Dong Y, Dunford JE, Guerrini R, Harris AL, Hartley J, Hollander G, Javaid K, Kane M, Kelly D, Kelly D, Knight SJL, Kreins AY, Kvikstad EM, Langman CB, Lester T, Lines KE, Lord SR, Lu X, Mansour S, Manzur A, Maroofian R, Marsden B, Mason J, McGowan SJ, Mei D, Mlcochova H, Murakami Y, Németh AH, Okoli S, Ormondroyd E, Ousager LB, Palace J, Patel SY, Pentony MM, Pugh C, Rad A, Ramesh A, Riva SG, Roberts I, Roy N, Salminen O, Schilling KD, Scott C, Sen A, Smith C, Stevenson M, Thakker RV, Twigg SRF, Uhlig HH, van Wijk R, Vona B, Wall S, Wang J, Watkins H, Zak J, Schuh AH, Kini U, Wilkie AOM, Popitsch N, Taylor JC. Pagnamenta AT, et al. Among authors: beeson d. Genome Med. 2023 Nov 9;15(1):94. doi: 10.1186/s13073-023-01240-0. Genome Med. 2023. PMID: 37946251 Free PMC article.
Congenital myasthenic syndromes: increasingly complex.
Ramdas S, Beeson D, Dong YY. Ramdas S, et al. Among authors: beeson d. Curr Opin Neurol. 2024 Oct 1;37(5):493-501. doi: 10.1097/WCO.0000000000001300. Epub 2024 Jul 25. Curr Opin Neurol. 2024. PMID: 39051439 Free PMC article. Review.
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.
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.
Myasthenic syndromes: mistaking genetic for acquired.
Henehan L, Rossini E, Platt IS, Dong YY, Beeson D, Fuller GN, Leite MI, Palace J. Henehan L, et al. Among authors: beeson d. Pract Neurol. 2025 Jul 22:pn-2025-004528. doi: 10.1136/pn-2025-004528. Online ahead of print. Pract Neurol. 2025. PMID: 40695604
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.
270 results