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Exosomes and microvesicles: extracellular vesicles for genetic information transfer and gene therapy

Human molecular genetics, 2012-10, Vol.21 (1), p.R125-R134

2012

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COL4A1 and COL4A2 mutations and disease: insights into pathogenic mechanisms and potential therapeutic targets

Human molecular genetics, 2012-10, Vol.21 (1), p.R97-R110

2012

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Exome sequencing and complex disease: practical aspects of rare variant association studies

Human molecular genetics, 2012-10, Vol.21 (1), p.R1-R9

2012

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A genome-wide association study identifies a potential novel gene locus for keratoconus, one of the commonest causes for corneal transplantation in developed countries

Human molecular genetics, 2012-01, Vol.21 (2), p.421-429

2012

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A meta-analysis of genome-wide association studies of breast cancer identifies two novel susceptibility loci at 6q14 and 20q11

Human molecular genetics, 2012-12, Vol.21 (24), p.5373-5384

2012

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Genome-wide DNA hydroxymethylation changes are associated with neurodevelopmental genes in the developing human cerebellum

Human molecular genetics, 2012-12, Vol.21 (26), p.5500-5510

2012

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Selective histone deacetylase (HDAC) inhibition imparts beneficial effects in Huntington's disease mice: implications for the ubiquitin―proteasomal and autophagy systems

Human molecular genetics, 2012-12, Vol.21 (24), p.5280-5293

2012

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Non-syndromic retinal ciliopathies: translating gene discovery into therapy

Human molecular genetics, 2012-10, Vol.21 (1), p.R111-R124

2012

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Comparative genome hybridization suggests a role for NRXN1 and APBA2 in schizophrenia

Human molecular genetics, 2008-02, Vol.17 (3), p.458-465

2008

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Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32

Human molecular genetics, 2012-12, Vol.21 (24), p.5359-5372

2012

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Pharmacogenomics of adverse drug reactions: implementing personalized medicine

Human molecular genetics, 2012-10, Vol.21 (1), p.R58-R65

2012

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An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervation

Human molecular genetics, 2012-12, Vol.21 (26), p.5484-5499

2012

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Sustained expression of PGC-1α in the rat nigrostriatal system selectively impairs dopaminergic function

Human molecular genetics, 2012-04, Vol.21 (8), p.1861-1876

2012

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Pantothenate kinase-associated neurodegeneration: altered mitochondria membrane potential and defective respiration in Pank2 knock-out mouse model

Human molecular genetics, 2012-12, Vol.21 (24), p.5294-5305

2012

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Somatic NF1 inactivation is a frequent event in sporadic pheochromocytoma

Human molecular genetics, 2012-12, Vol.21 (26), p.5397-5405

2012

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A coding variant in CR1 interacts with APOE-ε4 to influence cognitive decline

Human molecular genetics, 2012-05, Vol.21 (10), p.2377-2388

2012

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Chromosome-specific accumulation of aneuploidy in the aging mouse brain

Human molecular genetics, 2012-12, Vol.21 (24), p.5246-5253

2012

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Understanding and predicting complex traits: knowledge from cattle

Human molecular genetics, 2012-10, Vol.21 (1), p.R45-R51

2012

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A genome-wide association study in the Japanese population confirms 9p21 and 14q23 as susceptibility loci for primary open angle glaucoma

Human molecular genetics, 2012-06, Vol.21 (12), p.2836-2842

2012

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Genetic and epigenetic contribution to complex traits

Human molecular genetics, 2012-10, Vol.21 (1), p.R24-R28

2012

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Predominance of pathogenic missense variants in the RAD51C gene occurring in breast and ovarian cancer families

Human molecular genetics, 2012-07, Vol.21 (13), p.2889-2898

2012

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A critical role for the PAR-1/MARK-tau axis in mediating the toxic effects of Aβ on synapses and dendritic spines

Human molecular genetics, 2012-03, Vol.21 (6), p.1384-1390

2012

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Chromatin and epigenetic regulation of pre-mRNA processing

Human molecular genetics, 2012-10, Vol.21 (1), p.R90-R96

2012

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A defect in the mitochondrial complex III, but not complex IV, triggers early ROS-dependent damage in defined brain regions

Human molecular genetics, 2012-12, Vol.21 (23), p.5066-5077

2012

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Exosomes and microvesicles: extracellular vesicles for genetic information transfer and gene therapy

COL4A1 and COL4A2 mutations and disease: insights into pathogenic mechanisms and potential therapeutic targets

Exome sequencing and complex disease: practical aspects of rare variant association studies

Genome-wide meta-analysis points to CTC1 and ZNF676 as genes regulating telomere homeostasis in humans

A genome-wide association study identifies a potential novel gene locus for keratoconus, one of the commonest causes for corneal transplantation in developed countries

A meta-analysis of genome-wide association studies of breast cancer identifies two novel susceptibility loci at 6q14 and 20q11

Genome-wide DNA hydroxymethylation changes are associated with neurodevelopmental genes in the developing human cerebellum

Selective histone deacetylase (HDAC) inhibition imparts beneficial effects in Huntington's disease mice: implications for the ubiquitin―proteasomal and autophagy systems

Non-syndromic retinal ciliopathies: translating gene discovery into therapy

Comparative genome hybridization suggests a role for NRXN1 and APBA2 in schizophrenia

Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32

Pharmacogenomics of adverse drug reactions: implementing personalized medicine

An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervation

Sustained expression of PGC-1α in the rat nigrostriatal system selectively impairs dopaminergic function

Pantothenate kinase-associated neurodegeneration: altered mitochondria membrane potential and defective respiration in Pank2 knock-out mouse model

Somatic NF1 inactivation is a frequent event in sporadic pheochromocytoma

A coding variant in CR1 interacts with APOE-ε4 to influence cognitive decline

Chromosome-specific accumulation of aneuploidy in the aging mouse brain

Understanding and predicting complex traits: knowledge from cattle

A genome-wide association study in the Japanese population confirms 9p21 and 14q23 as susceptibility loci for primary open angle glaucoma

Genetic and epigenetic contribution to complex traits

Predominance of pathogenic missense variants in the RAD51C gene occurring in breast and ovarian cancer families

A critical role for the PAR-1/MARK-tau axis in mediating the toxic effects of Aβ on synapses and dendritic spines

Chromatin and epigenetic regulation of pre-mRNA processing

A defect in the mitochondrial complex III, but not complex IV, triggers early ROS-dependent damage in defined brain regions

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