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Results by year

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

Year Number of Results
1947 2
1952 1
1963 2
1973 1
1974 1
1977 3
1989 1
1990 6
1991 7
1992 18
1993 9
1994 14
1995 7
1996 9
1997 8
1998 10
1999 13
2000 10
2001 4
2002 8
2003 6
2004 4
2005 11
2006 11
2007 20
2008 10
2009 5
2010 7
2011 10
2012 10
2013 4
2014 6
2015 8
2016 5
2017 4
2018 4
2019 7
2020 6
2021 5
2022 0
Text availability
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Article type
Publication date

Search Results

256 results
Results by year
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Page 1
Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort.
Bertoli-Avella AM, Beetz C, Ameziane N, Rocha ME, Guatibonza P, Pereira C, Calvo M, Herrera-Ordonez N, Segura-Castel M, Diego-Alvarez D, Zawada M, Kandaswamy KK, Werber M, Paknia O, Zielske S, Ugrinovski D, Warnack G, Kampe K, Iurașcu MI, Cozma C, Vogel F, Alhashem A, Hertecant J, Al-Shamsi AM, Alswaid AF, Eyaid W, Al Mutairi F, Alfares A, Albalwi MA, Alfadhel M, Al-Sannaa NA, Reardon W, Alanay Y, Rolfs A, Bauer P. Bertoli-Avella AM, et al. Among authors: reardon w. Eur J Hum Genet. 2021 Jan;29(1):141-153. doi: 10.1038/s41431-020-00713-9. Epub 2020 Aug 28. Eur J Hum Genet. 2021. PMID: 32860008 Free PMC article.
Dysmorphology demystified.
Reardon W, Donnai D. Reardon W, et al. Arch Dis Child Fetal Neonatal Ed. 2007 May;92(3):F225-9. doi: 10.1136/adc.2006.110619. Arch Dis Child Fetal Neonatal Ed. 2007. PMID: 17449858 Free PMC article. Review. No abstract available.
Pendred syndrome.
Reardon W, Trembath RC. Reardon W, et al. J Med Genet. 1996 Dec;33(12):1037-40. doi: 10.1136/jmg.33.12.1037. J Med Genet. 1996. PMID: 9004139 Free PMC article. Review. No abstract available.
Genetic deafness.
Reardon W. Reardon W. J Med Genet. 1992 Aug;29(8):521-6. doi: 10.1136/jmg.29.8.521. J Med Genet. 1992. PMID: 1518019 Free PMC article. Review. No abstract available.
Saethre-Chotzen syndrome.
Reardon W, Winter RM. Reardon W, et al. J Med Genet. 1994 May;31(5):393-6. doi: 10.1136/jmg.31.5.393. J Med Genet. 1994. PMID: 8064818 Free PMC article. Review. No abstract available.
Craniofacial developmental abnormalities.
Elmslie FV, Reardon W. Elmslie FV, et al. Among authors: reardon w. Curr Opin Neurol. 1998 Apr;11(2):103-8. doi: 10.1097/00019052-199804000-00004. Curr Opin Neurol. 1998. PMID: 9551288 Review.
Central 22q11.2 deletions.
Rump P, de Leeuw N, van Essen AJ, Verschuuren-Bemelmans CC, Veenstra-Knol HE, Swinkels ME, Oostdijk W, Ruivenkamp C, Reardon W, de Munnik S, Ruiter M, Frumkin A, Lev D, Evers C, Sikkema-Raddatz B, Dijkhuizen T, van Ravenswaaij-Arts CM. Rump P, et al. Among authors: reardon w. Am J Med Genet A. 2014 Nov;164A(11):2707-23. doi: 10.1002/ajmg.a.36711. Epub 2014 Aug 14. Am J Med Genet A. 2014. PMID: 25123976
Elastin mutation and cardiac disease.
Chowdhury T, Reardon W. Chowdhury T, et al. Among authors: reardon w. Pediatr Cardiol. 1999 Mar-Apr;20(2):103-7. doi: 10.1007/s002469900415. Pediatr Cardiol. 1999. PMID: 9986885 Review.
Update on Kleefstra Syndrome.
Willemsen MH, Vulto-van Silfhout AT, Nillesen WM, Wissink-Lindhout WM, van Bokhoven H, Philip N, Berry-Kravis EM, Kini U, van Ravenswaaij-Arts CM, Delle Chiaie B, Innes AM, Houge G, Kosonen T, Cremer K, Fannemel M, Stray-Pedersen A, Reardon W, Ignatius J, Lachlan K, Mircher C, Helderman van den Enden PT, Mastebroek M, Cohn-Hokke PE, Yntema HG, Drunat S, Kleefstra T. Willemsen MH, et al. Among authors: reardon w. Mol Syndromol. 2012 Apr;2(3-5):202-212. doi: 10.1159/000335648. Epub 2012 Jan 24. Mol Syndromol. 2012. PMID: 22670141 Free PMC article.
256 results