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Page 1
Epigenetic remodelling and dysregulation of DLGAP4 is linked with early-onset cerebellar ataxia.
Minocherhomji S, Hansen C, Kim HG, Mang Y, Bak M, Guldberg P, Papadopoulos N, Eiberg H, Doh GD, Møllgård K, Hertz JM, Nielsen JE, Ropers HH, Tümer Z, Tommerup N, Kalscheuer VM, Silahtaroglu A. Minocherhomji S, et al. Among authors: kim hg. Hum Mol Genet. 2014 Dec 1;23(23):6163-76. doi: 10.1093/hmg/ddu337. Epub 2014 Jul 1. Hum Mol Genet. 2014. PMID: 24986922 Free PMC article.
WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome.
Kim HG, Ahn JW, Kurth I, Ullmann R, Kim HT, Kulharya A, Ha KS, Itokawa Y, Meliciani I, Wenzel W, Lee D, Rosenberger G, Ozata M, Bick DP, Sherins RJ, Nagase T, Tekin M, Kim SH, Kim CH, Ropers HH, Gusella JF, Kalscheuer V, Choi CY, Layman LC. Kim HG, et al. Among authors: kim sh, kim ch, kim ht. Am J Hum Genet. 2010 Oct 8;87(4):465-79. doi: 10.1016/j.ajhg.2010.08.018. Am J Hum Genet. 2010. PMID: 20887964 Free PMC article.
Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies.
Kim HG, Kim HT, Leach NT, Lan F, Ullmann R, Silahtaroglu A, Kurth I, Nowka A, Seong IS, Shen Y, Talkowski ME, Ruderfer D, Lee JH, Glotzbach C, Ha K, Kjaergaard S, Levin AV, Romeike BF, Kleefstra T, Bartsch O, Elsea SH, Jabs EW, MacDonald ME, Harris DJ, Quade BJ, Ropers HH, Shaffer LG, Kutsche K, Layman LC, Tommerup N, Kalscheuer VM, Shi Y, Morton CC, Kim CH, Gusella JF. Kim HG, et al. Among authors: kim ch, kim ht. Am J Hum Genet. 2012 Jul 13;91(1):56-72. doi: 10.1016/j.ajhg.2012.05.005. Epub 2012 Jul 5. Am J Hum Genet. 2012. PMID: 22770980 Free PMC article.
A balanced chromosomal translocation involving chromosomes 3 and 16 in a patient with Mayer-Rokitansky-Kuster-Hauser syndrome reveals new candidate genes at 3p22.3 and 16p13.3.
Williams LS, Kim HG, Kalscheuer VM, Tuck JM, Chorich LP, Sullivan ME, Falkenstrom A, Reindollar RH, Layman LC. Williams LS, et al. Among authors: kim hg. Mol Cytogenet. 2016 Jul 30;9:57. doi: 10.1186/s13039-016-0264-6. eCollection 2016. Mol Cytogenet. 2016. PMID: 27478502 Free PMC article.
Disruption of neurexin 1 associated with autism spectrum disorder.
Kim HG, Kishikawa S, Higgins AW, Seong IS, Donovan DJ, Shen Y, Lally E, Weiss LA, Najm J, Kutsche K, Descartes M, Holt L, Braddock S, Troxell R, Kaplan L, Volkmar F, Klin A, Tsatsanis K, Harris DJ, Noens I, Pauls DL, Daly MJ, MacDonald ME, Morton CC, Quade BJ, Gusella JF. Kim HG, et al. Am J Hum Genet. 2008 Jan;82(1):199-207. doi: 10.1016/j.ajhg.2007.09.011. Am J Hum Genet. 2008. PMID: 18179900 Free PMC article.
Disruption of ROBO2 is associated with urinary tract anomalies and confers risk of vesicoureteral reflux.
Lu W, van Eerde AM, Fan X, Quintero-Rivera F, Kulkarni S, Ferguson H, Kim HG, Fan Y, Xi Q, Li QG, Sanlaville D, Andrews W, Sundaresan V, Bi W, Yan J, Giltay JC, Wijmenga C, de Jong TP, Feather SA, Woolf AS, Rao Y, Lupski JR, Eccles MR, Quade BJ, Gusella JF, Morton CC, Maas RL. Lu W, et al. Among authors: kim hg. Am J Hum Genet. 2007 Apr;80(4):616-32. doi: 10.1086/512735. Epub 2007 Feb 14. Am J Hum Genet. 2007. PMID: 17357069 Free PMC article.
Genetics of agenesis/hypoplasia of the uterus and vagina: narrowing down the number of candidate genes for Mayer-Rokitansky-Küster-Hauser Syndrome.
Mikhael S, Dugar S, Morton M, Chorich LP, Tam KB, Lossie AC, Kim HG, Knight J, Taylor HS, Mukherjee S, Capra JA, Phillips JA 3rd, Friez M, Layman LC. Mikhael S, et al. Among authors: kim hg. Hum Genet. 2021 Apr;140(4):667-680. doi: 10.1007/s00439-020-02239-y. Epub 2021 Jan 19. Hum Genet. 2021. PMID: 33469725 Free PMC article.
Eif2b3 mutants recapitulate phenotypes of vanishing white matter disease and validate novel disease alleles in zebrafish.
Lee YR, Kim SH, Ben-Mahmoud A, Kim OH, Choi TI, Lee KH, Ku B, Eum J, Kee Y, Lee S, Cha J, Won D, Lee ST, Choi JR, Lee JS, Kim HD, Kim HG, Bonkowsky JL, Kang HC, Kim CH. Lee YR, et al. Among authors: kim hg, kim sh, kim ch, kim oh, kim hd. Hum Mol Genet. 2021 Apr 27;30(5):331-342. doi: 10.1093/hmg/ddab033. Hum Mol Genet. 2021. PMID: 33517449
1,979 results