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Exome sequencing reveals a novel mutation for autosomal recessive non-syndromic mental retardation in the TECR gene on chromosome 19p13

M Çalışkan, JX Chong, L Uricchio… - … molecular genetics, 2011 - Oxford Univ Press
Exome sequencing is a powerful tool for discovery of the Mendelian disease genes.
Previously, we reported a novel locus for autosomal recessive non-syndromic mental retardation
(NSMR) in a consanguineous family [Nolan, DK, Chen, P., Das, S., Ober, C. and ...
Cited by 9 - Related articles - All 5 versions

Dissection of the genetics of Parkinson's disease identifies an additional association 5′ of SNCA and multiple associated haplotypes at 17q21

[HTML] from nih.govCCA Spencer, V Plagnol, A Strange… - … Molecular Genetics, 2011 - Oxford Univ Press
We performed a genome-wide association study (GWAS) in 1705 Parkinson's disease (PD) UK
patients and 5175 UK controls, the largest sample size so far for a PD GWAS. Replication was
attempted in an additional cohort of 1039 French PD cases and 1984 controls for the 27 ...
Cited by 8 - Related articles - All 7 versions

Differential Effects of the Huntington's disease CAG Mutation in Striatum and Cerebellum are Quantitative not Qualitative

E Fossale, IS Seong, KR Coser… - … Molecular Genetics, 2011 - Oxford Univ Press
Huntington's disease (HD) involves marked early neurodegeneration in the striatum, whereas
the cerebellum is relatively spared despite the ubiquitous expression of full-length mutant
huntingtin, implying that inherent tissue-specific differences determine susceptibility to the ...

Distinct DNA methylation changes highly correlated with chronological age in the human brain

DG Hernandez, MA Nalls, JR Gibbs… - … molecular genetics, 2011 - Oxford Univ Press
Methylation at CpG sites is a critical epigenetic modification in mammals. Altered DNA methylation
has been suggested to be a central mechanism in development, some disease processes and
cellular senescence. Quantifying the extent and identity of epigenetic changes in the ...
Cited by 6 - Related articles - All 5 versions

A generalisable hypothesis for the genetic architecture of disease: pleomorphic risk loci

A Singleton… - Human Molecular Genetics, 2011 - Oxford Univ Press
The dominant and sometimes competing theories for the aetiology of complex human disease
have been the common disease, common variant (CDCV) hypothesis, and the multiple rare variant
(MRV) hypothesis. With the advent of genome wide association studies and of second- ...

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