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Homozygous Deficiency Of Ubiquitin-Ligase Ring-Finger Protein Rnf168 Mimics The Radiosensitivity Syndrome Of Ataxia-Telangiectasia
(Nature Publishing Group, 2011)
Maintaining genomic integrity is critical to avoid life-threatening disorders, such as premature aging, neurodegeneration and cancer. A multiprotein cascade operates at sites of DNA double-strand breaks (DSBs) to recognize, ...
Homozygosity Mapping And Targeted Genomic Sequencing Reveal The Gene Responsible For Cerebellar Hypoplasia And Quadrupedal Locomotion In A Consanguineous Kindred
(Cold Spring Harbor Lab Press, Publications Dept, 2011)
The biological basis for the development of the cerebro-cerebellar structures required for posture and gait in humans is poorly understood. We investigated a large consanguineous family from Turkey exhibiting an extremely ...
High-Dimensional Pharmacogenetic Prediction Of A Continuous Trait Using Machine Learning Techniques With Application To Warfarin Dose Prediction In African Americans
(Oxford Univ Press, 2011)
Motivation: With complex traits and diseases having potential genetic contributions of thousands of genetic factors, and with current genotyping arrays consisting of millions of single nucleotide polymorphisms (SNPs), ...