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Mutations in TKT Are the Cause of a Syndrome Including Short Stature, Developmental Delay, and Congenital Heart Defects.
Boyle L, Wamelink MMC, Salomons GS, Roos B, Pop A, Dauber A, Hwa V, Andrew M, Douglas J, Feingold M, Kramer N, Saitta S, Retterer K, Cho MT, Begtrup A, Monaghan KG, Wynn J, Chung WK. Boyle L, et al. Among authors: dauber a. Am J Hum Genet. 2016 Jun 2;98(6):1235-1242. doi: 10.1016/j.ajhg.2016.03.030. Am J Hum Genet. 2016. PMID: 27259054 Free PMC article.
SCRIB and PUF60 are primary drivers of the multisystemic phenotypes of the 8q24.3 copy-number variant.
Dauber A, Golzio C, Guenot C, Jodelka FM, Kibaek M, Kjaergaard S, Leheup B, Martinet D, Nowaczyk MJ, Rosenfeld JA, Zeesman S, Zunich J, Beckmann JS, Hirschhorn JN, Hastings ML, Jacquemont S, Katsanis N. Dauber A, et al. Am J Hum Genet. 2013 Nov 7;93(5):798-811. doi: 10.1016/j.ajhg.2013.09.010. Epub 2013 Oct 17. Am J Hum Genet. 2013. PMID: 24140112 Free PMC article.
A novel variant in CDKN1C is associated with intrauterine growth restriction, short stature, and early-adulthood-onset diabetes.
Kerns SL, Guevara-Aguirre J, Andrew S, Geng J, Guevara C, Guevara-Aguirre M, Guo M, Oddoux C, Shen Y, Zurita A, Rosenfeld RG, Ostrer H, Hwa V, Dauber A. Kerns SL, et al. Among authors: dauber a. J Clin Endocrinol Metab. 2014 Oct;99(10):E2117-22. doi: 10.1210/jc.2014-1949. Epub 2014 Jul 24. J Clin Endocrinol Metab. 2014. PMID: 25057881 Free PMC article.
An XRCC4 splice mutation associated with severe short stature, gonadal failure, and early-onset metabolic syndrome.
de Bruin C, Mericq V, Andrew SF, van Duyvenvoorde HA, Verkaik NS, Losekoot M, Porollo A, Garcia H, Kuang Y, Hanson D, Clayton P, van Gent DC, Wit JM, Hwa V, Dauber A. de Bruin C, et al. Among authors: dauber a. J Clin Endocrinol Metab. 2015 May;100(5):E789-98. doi: 10.1210/jc.2015-1098. Epub 2015 Mar 5. J Clin Endocrinol Metab. 2015. PMID: 25742519 Free PMC article.
138 results