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Biallelic variants in WARS1 cause a highly variable neurodevelopmental syndrome and implicate a critical exon for normal auditory function.
Lin SJ, Vona B, Porter HM, Izadi M, Huang K, Lacassie Y, Rosenfeld JA, Khan S, Petree C, Ali TA, Muhammad N, Khan SA, Muhammad N, Liu P, Haymon ML, Rüschendorf F, Kong IK, Schnapp L, Shur N, Chorich L, Layman L, Haaf T, Pourkarimi E, Kim HG, Varshney GK. Lin SJ, et al. Among authors: chorich l. Hum Mutat. 2022 Oct;43(10):1472-1489. doi: 10.1002/humu.24435. Epub 2022 Jul 21. Hum Mutat. 2022. PMID: 35815345
NELF is a nuclear protein involved in hypothalamic GnRH neuronal migration.
Xu N, Bhagavath B, Kim HG, Halvorson L, Podolsky RS, Chorich LP, Prasad P, Xiong WC, Cameron RS, Layman LC. Xu N, et al. Among authors: chorich lp. Mol Cell Endocrinol. 2010 May 5;319(1-2):47-55. doi: 10.1016/j.mce.2009.11.016. Epub 2009 Dec 16. Mol Cell Endocrinol. 2010. PMID: 20025934 Free PMC article.
Nasal embryonic LHRH factor (NELF) mutations in patients with normosmic hypogonadotropic hypogonadism and Kallmann syndrome.
Xu N, Kim HG, Bhagavath B, Cho SG, Lee JH, Ha K, Meliciani I, Wenzel W, Podolsky RH, Chorich LP, Stackhouse KA, Grove AM, Odom LN, Ozata M, Bick DP, Sherins RJ, Kim SH, Cameron RS, Layman LC. Xu N, et al. Fertil Steril. 2011 Apr;95(5):1613-20.e1-7. doi: 10.1016/j.fertnstert.2011.01.010. Epub 2011 Feb 15. Fertil Steril. 2011. PMID: 21300340 Free PMC article.
Identification of HESX1 mutations in Kallmann syndrome.
Newbern K, Natrajan N, Kim HG, Chorich LP, Halvorson LM, Cameron RS, Layman LC. Newbern K, et al. Fertil Steril. 2013 Jun;99(7):1831-7. doi: 10.1016/j.fertnstert.2013.01.149. Epub 2013 Mar 1. Fertil Steril. 2013. PMID: 23465708 Free PMC article.
NELF knockout is associated with impaired pubertal development and subfertility.
Quaynor SD, Ko EK, Chorich LP, Sullivan ME, Demir D, Waller JL, Kim HG, Cameron RS, Layman LC. Quaynor SD, et al. Among authors: chorich lp. Mol Cell Endocrinol. 2015 May 15;407:26-36. doi: 10.1016/j.mce.2015.02.015. Epub 2015 Feb 27. Mol Cell Endocrinol. 2015. PMID: 25731822 Free PMC article.
46 results