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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
2023 1
2024 1

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258 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.
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.
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
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.
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.
Biallelic NUDT2 variants defective in mRNA decapping cause a neurodevelopmental disease.
Husain RA, Jiao X, Hennings JC, Giesecke J, Palsule G, Beck-Wödl S, Osmanović D, Bjørgo K, Mir A, Ilyas M, Abbasi SM, Efthymiou S, Dominik N, Maroofian R, Houlden H, Rankin J, Pagnamenta AT, Nashabat M, Altwaijri W, Alfadhel M, Umair M, Khouj E, Reardon W, El-Hattab AW, Mekki M, Houge G, Beetz C, Bauer P, Putoux A, Lesca G, Sanlaville D, Alkuraya FS, Taylor RW, Mentzel HJ, Hübner CA, Huppke P, Hart RP, Haack TB, Kiledjian M, Rubio I. Husain RA, et al. Among authors: reardon w. Brain. 2024 Apr 4;147(4):1197-1205. doi: 10.1093/brain/awad434. Brain. 2024. PMID: 38141063
258 results