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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 4
2022 0
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Publication date

Search Results

255 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.
De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia.
Haijes HA, Koster MJE, Rehmann H, Li D, Hakonarson H, Cappuccio G, Hancarova M, Lehalle D, Reardon W, Schaefer GB, Lehman A, van de Laar IMBH, Tesselaar CD, Turner C, Goldenberg A, Patrier S, Thevenon J, Pinelli M, Brunetti-Pierri N, Prchalová D, Havlovicová M, Vlckova M, Sedláček Z, Lopez E, Ragoussis V, Pagnamenta AT, Kini U, Vos HR, van Es RM, van Schaik RFMA, van Essen TAJ, Kibaek M, Taylor JC, Sullivan J, Shashi V, Petrovski S, Fagerberg C, Martin DM, van Gassen KLI, Pfundt R, Falk MJ, McCormick EM, Timmers HTM, van Hasselt PM. Haijes HA, et al. Among authors: reardon w. Am J Hum Genet. 2019 Aug 1;105(2):283-301. doi: 10.1016/j.ajhg.2019.06.016. Epub 2019 Jul 25. Am J Hum Genet. 2019. PMID: 31353023 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.
Pathogenic Variants in GPC4 Cause Keipert Syndrome.
Amor DJ, Stephenson SEM, Mustapha M, Mensah MA, Ockeloen CW, Lee WS, Tankard RM, Phelan DG, Shinawi M, de Brouwer APM, Pfundt R, Dowling C, Toler TL, Sutton VR, Agolini E, Rinelli M, Capolino R, Martinelli D, Zampino G, Dumić M, Reardon W, Shaw-Smith C, Leventer RJ, Delatycki MB, Kleefstra T, Mundlos S, Mortier G, Bahlo M, Allen NJ, Lockhart PJ. Amor DJ, et al. Among authors: reardon w. Am J Hum Genet. 2019 May 2;104(5):914-924. doi: 10.1016/j.ajhg.2019.02.026. Epub 2019 Apr 11. Am J Hum Genet. 2019. PMID: 30982611 Free PMC article.
255 results