2012 Publications

      2014     2013     2012     2011     2010     2009    2008     2007     2006     2005

Oz-Levi D, Ben-Zeev B, Ruzzo EK, et al. Mutation in TECPR2 reveals a role for autophagy in hereditary spastic paraparesis. Am J Hum Genet. 2012 Dec 7;91(6):1065-72. Epub 2012 Nov 21.

González-Pérez P, Cirulli ET, Drory VE, et al. Novel mutation in VCP gene causes atypical amyotrophic lateral sclerosis. Neurology. 2012 Nov 27;79(22):2201-8. Epub 2012 Nov 14.

Urban TJ, Shen Y, Stolz A, Chalasani N, et al. Limited contribution of common genetic variants to risk for liver injury due to a variety of drugs. Pharmacogenet Genomics. 2012 Nov;22(11):784-795.

Shea PR, Shianna KV, Carrington M, Goldstein DB. Host Genetics of HIV Acquisition and Viral Control. Annu Rev Med. 2012 Sep 27. [Epub ahead of print]

Zhu Q, Ge D, Heinzen EL, Dickson SP, et al. Prioritizing genetic variants for causality on the basis of preferential linkage disequilibrium. Am J Hum Genet. 2012 Sep 7;91(3):408-21. Epub 2012 Aug 30.

Zhu M, Need AC, Han Y, Ge D, et al. Using ERDS to Infer Copy-Number Variants in High-Coverage Genomes. Am J Hum Genet. 2012 Sep 7;91(3):408-21. Epub 2012 Aug 30.

Heinzen EL, Swoboda KJ, Hitomi Y, Gurrieri F, et al. De novo mutations in ATP1A3 cause alternating hemiplegia of childhood. Nat Genet. 2012 Sep;44(9):1030-4. doi: 10.1038/ng.2358. Epub 2012 Jul 29.

Wu CH, Fallini C, Ticozzi N, Keagle PJ, et al. Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis. Nature. 2012 Aug 23;488(7412):499-503.

Need AC, McEvoy JP, Gennarelli M, Heinzen EL,et al. Exome sequencing followed by large-scale genotyping suggests a limited role for moderately rare risk factors of strong effect in schizophrenia. Am J Hum Genet. 2012 Aug 10;91(2):303-12. doi: 10.1016/j.ajhg.2012.06.018. Epub 2012 Aug 2.

Heinzen EL, Depondt C, Cavalleri GL, Ruzzo EK, et al. Exome sequencing followed by large-scale genotyping fails to identify single rare variants of large effect in idiopathic generalized epilepsy. Am J Hum Genet. 2012 Aug 10;91(2):293-302. doi: 10.1016/j.ajhg.2012.06.016. Epub 2012 Aug 2.

Clark PJ, Thompson AJ, Zhu Q, Vock DM, et al. The association of genetic variants with hepatic steatosis in patients with genotype 1 chronic hepatitis C infection. Dig Dis Sci. 2012 Aug;57(8):2213-21. doi: 10.1007/s10620-012-2171-y. Epub 2012 Apr 29. Erratum in: Dig Dis Sci. 2012 Sep;57(9):2479.

Urban T, Charlton MR, Goldstein DB. Introduction to the genetics and biology of interleukin-28B. Hepatology. 2012 Jul;56(1):361-6. doi: 10.1002/hep.25794. Review. No abstract available.

Need AC, Shashi V, Hitomi Y, Schoch K,et al. Clinical application of exome sequencing in undiagnosed genetic conditions. J Med Genet. 2012 Jun;49(6):353-61. Epub 2012 May 11.

Urban TJ, Goldstein DB, Watkins PB. Genetic basis of susceptibility to drug-induced liver injury: what have we learned and where do we go from here? Pharmacogenomics. 2012 May;13(7):735-8. No abstract available.

Clark PJ, Thompson AJ, Zhu M, Vock DM, et al. Interleukin 28B polymorphisms are the only common genetic variants associated with low-density lipoprotein cholesterol (LDL-C) in genotype-1 chronic hepatitis C and determine the association between LDL-C and treatment response. J Viral Hepat. 2012 May;19(5):332-40. doi: 10.1111/j.1365-2893.2011.01553.x. Epub 2012 Feb 22.

Stein JL, Medland SE, Vasquez AA, Hibar DP, et al. Identification of common variants associated with human hippocampal and intracranial volumes. Nat Genet. 2012 Apr 15;44(5):552-61. doi: 10.1038/ng.2250.


Wilson Sayres MA, Brookes AJ, Chanock SJ, Cheung VG, et al. HGV2011: Personalized genomic medicine meets the incidentalome. Hum Mutat. 2012 Mar;33(3):582-5. doi: 10.1002/humu.22008. Epub 2012 Jan 17.

Howell CD, Gorden A, Ryan KA, Thompson AJ, et al. Single nucleotide polymorphism upstream of interleukin 28B associated with phase 1 and phase 2 of early viral kinetics in patients infected with HCV genotype 1. J Hepatol. 2012 Mar;56(3):557-63. Epub 2011 Oct 23.

Naggie S, Rallon NI, Benito JM, Morello J, et al. Variants in the ITPA gene protect against ribavirin-induced hemolytic anemia in HIV/HCV-coinfected patients with all HCV genotypes. J Infect Dis. 2012 Feb 1;205(3):376-83. Epub 2011 Dec 9.

Thompson AJ, Clark PJ, Singh A, Ge D, et al. Genome-wide association study of interferon-related cytopenia in chronic hepatitis C patients. J Hepatol. 2012 Feb;56(2):313-9. Epub 2011 May 20.

Ombrello MJ, Remmers EF, Sun G, Freeman AF, et al. Cold urticaria, immunodeficiency, and autoimmunity related to PLCG2 deletions. N Engl J Med. 2012 Jan 26;366(4):330-8. Epub 2012 Jan 11.

Cirulli ET, Urban TJ, Marino SE, Linney KN, et al. Genetic and environmental correlates of topiramate-induced cognitive impairment. Epilepsia. 2012 Jan;53(1):e5-8. doi: 10.1111/j.1528-1167.2011.03322.x. Epub 2011 Nov 16.

Ruzzo EK, Pappas AL, Goldstein DB. Modifier genetics in neuropsychiatric disease: challenges and opportunities. Genome Biol. 2012;13(3):150.

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