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Whole exome sequencing to identify genetic causes of short stature.
Guo MH, Shen Y, Walvoord EC, Miller TC, Moon JE, Hirschhorn JN, Dauber A. Guo MH, et al. Among authors: hirschhorn jn. Horm Res Paediatr. 2014;82(1):44-52. doi: 10.1159/000360857. Epub 2014 Jun 20. Horm Res Paediatr. 2014. PMID: 24970356 Free PMC article. Clinical Trial.
Genome-wide association studies in pediatric endocrinology.
Dauber A, Hirschhorn JN. Dauber A, et al. Among authors: hirschhorn jn. Horm Res Paediatr. 2011;75(5):322-8. doi: 10.1159/000326684. Epub 2011 Apr 5. Horm Res Paediatr. 2011. PMID: 21464565 Free article. Review.
Genome-wide association of copy-number variation reveals an association between short stature and the presence of low-frequency genomic deletions.
Dauber A, Yu Y, Turchin MC, Chiang CW, Meng YA, Demerath EW, Patel SR, Rich SS, Rotter JI, Schreiner PJ, Wilson JG, Shen Y, Wu BL, Hirschhorn JN. Dauber A, et al. Among authors: hirschhorn jn. Am J Hum Genet. 2011 Dec 9;89(6):751-9. doi: 10.1016/j.ajhg.2011.10.014. Epub 2011 Nov 23. Am J Hum Genet. 2011. PMID: 22118881 Free PMC article.
17q24.2 microdeletions: a new syndromal entity with intellectual disability, truncal obesity, mood swings and hallucinations.
Vergult S, Dauber A, Delle Chiaie B, Van Oudenhove E, Simon M, Rihani A, Loeys B, Hirschhorn J, Pfotenhauer J, Phillips JA 3rd, Mohammed S, Ogilvie C, Crolla J, Mortier G, Menten B. Vergult S, et al. Eur J Hum Genet. 2012 May;20(5):534-9. doi: 10.1038/ejhg.2011.239. Epub 2011 Dec 14. Eur J Hum Genet. 2012. PMID: 22166941 Free PMC article.
Common variants show predicted polygenic effects on height in the tails of the distribution, except in extremely short individuals.
Chan Y, Holmen OL, Dauber A, Vatten L, Havulinna AS, Skorpen F, Kvaløy K, Silander K, Nguyen TT, Willer C, Boehnke M, Perola M, Palotie A, Salomaa V, Hveem K, Frayling TM, Hirschhorn JN, Weedon MN. Chan Y, et al. Among authors: hirschhorn jn. PLoS Genet. 2011 Dec;7(12):e1002439. doi: 10.1371/journal.pgen.1002439. Epub 2011 Dec 29. PLoS Genet. 2011. PMID: 22242009 Free PMC article.
Novel microcephalic primordial dwarfism disorder associated with variants in the centrosomal protein ninein.
Dauber A, Lafranchi SH, Maliga Z, Lui JC, Moon JE, McDeed C, Henke K, Zonana J, Kingman GA, Pers TH, Baron J, Rosenfeld RG, Hirschhorn JN, Harris MP, Hwa V. Dauber A, et al. Among authors: hirschhorn jn. J Clin Endocrinol Metab. 2012 Nov;97(11):E2140-51. doi: 10.1210/jc.2012-2150. Epub 2012 Aug 29. J Clin Endocrinol Metab. 2012. PMID: 22933543 Free PMC article.
368 results