Zoghbi HY - Search Results

1

Combination of whole exome sequencing and animal modeling identifies TMPRSS9 as a candidate gene for autism spectrum disorder.

Chen CA, Pal R, Yin J, Tao H, Amawi A, Sabo A, Bainbridge MN, Gibbs RA, Zoghbi HY, Schaaf CP. Chen CA, et al. Among authors: zoghbi hy. Hum Mol Genet. 2020 Feb 1;29(3):459-470. doi: 10.1093/hmg/ddz305. Hum Mol Genet. 2020. PMID: 31943016 Free PMC article.

2

Loss of holocytochrome c-type synthetase causes the male lethality of X-linked dominant microphthalmia with linear skin defects (MLS) syndrome.

Prakash SK, Cormier TA, McCall AE, Garcia JJ, Sierra R, Haupt B, Zoghbi HY, Van Den Veyver IB. Prakash SK, et al. Among authors: zoghbi hy. Hum Mol Genet. 2002 Dec 1;11(25):3237-48. doi: 10.1093/hmg/11.25.3237. Hum Mol Genet. 2002. PMID: 12444108

3

Regional differences of somatic CAG repeat instability do not account for selective neuronal vulnerability in a knock-in mouse model of SCA1.

Watase K, Venken KJ, Sun Y, Orr HT, Zoghbi HY. Watase K, et al. Among authors: zoghbi hy. Hum Mol Genet. 2003 Nov 1;12(21):2789-95. doi: 10.1093/hmg/ddg300. Epub 2003 Sep 2. Hum Mol Genet. 2003. PMID: 12952864

4

X-chromosome inactivation patterns are unbalanced and affect the phenotypic outcome in a mouse model of rett syndrome.

Young JI, Zoghbi HY. Young JI, et al. Among authors: zoghbi hy. Am J Hum Genet. 2004 Mar;74(3):511-20. doi: 10.1086/382228. Epub 2004 Feb 17. Am J Hum Genet. 2004. PMID: 14973779 Free PMC article.

5

Mild overexpression of MeCP2 causes a progressive neurological disorder in mice.

Collins AL, Levenson JM, Vilaythong AP, Richman R, Armstrong DL, Noebels JL, David Sweatt J, Zoghbi HY. Collins AL, et al. Among authors: zoghbi hy. Hum Mol Genet. 2004 Nov 1;13(21):2679-89. doi: 10.1093/hmg/ddh282. Epub 2004 Sep 6. Hum Mol Genet. 2004. PMID: 15351775

6

Abnormalities of social interactions and home-cage behavior in a mouse model of Rett syndrome.

Moretti P, Bouwknecht JA, Teague R, Paylor R, Zoghbi HY. Moretti P, et al. Among authors: zoghbi hy. Hum Mol Genet. 2005 Jan 15;14(2):205-20. doi: 10.1093/hmg/ddi016. Epub 2004 Nov 17. Hum Mol Genet. 2005. PMID: 15548546

7

A partial loss of function allele of methyl-CpG-binding protein 2 predicts a human neurodevelopmental syndrome.

Samaco RC, Fryer JD, Ren J, Fyffe S, Chao HT, Sun Y, Greer JJ, Zoghbi HY, Neul JL. Samaco RC, et al. Among authors: zoghbi hy. Hum Mol Genet. 2008 Jun 15;17(12):1718-27. doi: 10.1093/hmg/ddn062. Epub 2008 Mar 4. Hum Mol Genet. 2008. PMID: 18321864 Free PMC article.

8

Mouse models of MeCP2 disorders share gene expression changes in the cerebellum and hypothalamus.

Ben-Shachar S, Chahrour M, Thaller C, Shaw CA, Zoghbi HY. Ben-Shachar S, et al. Among authors: zoghbi hy. Hum Mol Genet. 2009 Jul 1;18(13):2431-42. doi: 10.1093/hmg/ddp181. Epub 2009 Apr 15. Hum Mol Genet. 2009. PMID: 19369296 Free PMC article.

9

Autism and other neuropsychiatric symptoms are prevalent in individuals with MeCP2 duplication syndrome.

Ramocki MB, Peters SU, Tavyev YJ, Zhang F, Carvalho CM, Schaaf CP, Richman R, Fang P, Glaze DG, Lupski JR, Zoghbi HY. Ramocki MB, et al. Among authors: zoghbi hy. Ann Neurol. 2009 Dec;66(6):771-82. doi: 10.1002/ana.21715. Ann Neurol. 2009. PMID: 20035514 Free PMC article.

10

Oligogenic heterozygosity in individuals with high-functioning autism spectrum disorders.

Schaaf CP, Sabo A, Sakai Y, Crosby J, Muzny D, Hawes A, Lewis L, Akbar H, Varghese R, Boerwinkle E, Gibbs RA, Zoghbi HY. Schaaf CP, et al. Among authors: zoghbi hy. Hum Mol Genet. 2011 Sep 1;20(17):3366-75. doi: 10.1093/hmg/ddr243. Epub 2011 May 30. Hum Mol Genet. 2011. PMID: 21624971 Free PMC article.

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