Return of genetic results in the familial dilated cardiomyopathy research project.
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J Genet Couns. 2012 Aug 11. [Epub ahead of print]
HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle.
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Nature. 2012 Aug 12. [Epub ahead of print]
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Mutation of the CLN6 gene in teenage-onset progressive myoclonus epilepsy.
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Pediatr Neurol. 2012 Sep;47(3):205-8.
RBPJ mutations identified in two families affected by Adams-Oliver syndrome.
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Am J Hum Genet. 2012 Aug 10;91(2):391-5.
TCTN3 mutations cause Mohr-Majewski syndrome.
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Am J Hum Genet. 2012 Aug 10;91(2):372-8.
The TRK-fused gene is mutated in hereditary motor and sensory neuropathy with proximal dominant involvement.
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Am J Hum Genet. 2012 Aug 10;91(2):320-9.
Exome sequencing identifies compound heterozygous PKHD1 mutations as a cause of autosomal recessive polycystic kidney disease.
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Chin Med J (Engl). 2012 Jul;125(14):2482-6.
Origin, diversity, and maturation of human antiviral antibodies analyzed by high-throughput sequencing.
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Front Microbiol. 2012;3:277.
Routine use of microbial whole genome sequencing in diagnostic and public health microbiology.
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PLoS Pathog. 2012 Aug;8(8):e1002824.
Whole exome sequencing identifies mutations in the nucleoside transporter gene SLC29A3 in dysosteosclerosis, a form of osteopetrosis.
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Hum Mol Genet. 2012 Aug 8. [Epub ahead of print]
Alternative cleavage and polyadenylation during colorectal cancer development.
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Clin Cancer Res. 2012 Aug 8. [Epub ahead of print]
Long-range PCR and next-generation sequencing of BRCA1 and BRCA2 in breast cancer.
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Mol Diagn. 2012 Jul 28. [Epub ahead of print]
Global mutational profiling of formalin-fixed human colon cancers from a pathology archive.
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Mod Pathol. 2012 Aug 10. [Epub ahead of print]
MicroRNA profiling of Epstein-Barr virus-associated NK/T-cell lymphomas by deep sequencing.
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PLoS One. 2012;7(8):e42193.
Bacterial community shift in treated periodontitis patients revealed by Ion Torrent 16S rRNA gene amplicon sequencing.
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PLoS One. 2012;7(8):e41606.
ChIPnorm: a statistical method for normalizing and identifying differential regions in histone modification ChIP-seq libraries.
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PLoS One. 2012;7(8):e39573.
Increased inflammatory markers identified in the dorsolateral prefrontal cortex of individuals with schizophrenia.
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Mol Psychiatry. 2012 Aug 7. [Epub ahead of print]
Ultra-high resolution HLA genotyping and allele discovery by highly multiplexed cDNA amplicon pyrosequencing.
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