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Progressive cardiac arrhythmias and ECG abnormalities in the Huntington's disease BACHD mouse model.
Cross-disorder analysis of schizophrenia and 19 immune-mediated diseases identifies shared genetic risk..
De novo loss-of-function KCNMA1 variants are associated with a new multiple malformation syndrome and a broad spectrum of developmental and neurological phenotypes.
A multi-ancestry genome-wide study incorporating gene-smoking interactions identifies multiple new loci for pulse pressure and mean arterial pressure.
Selective serotonin reuptake inhibitors ameliorate MEGF10 myopathy.
Corrigendum: Identification and validation of seven new loci showing differential DNA methylation related to serum lipid profile: An epigenome-wide approach. The REGICOR study (Human Molecular Genetics (2018) 25:20 (4556-4565) DOI: 10.1093/hmg/ddw285).
Mutant huntingtin reduction in astrocytes slows disease progression in the BACHD conditional Huntington’s disease mouse model.
Genetic influences on susceptibility to rheumatoid arthritis in African-Americans.
Distinct functional roles of Vps41-mediated neuroprotection in Alzheimer's and Parkinson's disease models of neurodegeneration.
A plausibly causal functional lupus-associated risk variant in the STAT1-STAT4 locus.
Alpha-synuclein inhibits Snx3-retromer-mediated retrograde recycling of iron transporters in S. cerevisiae and C. elegans models of Parkinson's disease.
Transcriptome and functional analysis in a Drosophila model of NGLY1 deficiency provides insight into therapeutic approaches.
Discovery, fine-mapping, and conditional analyses of genetic variants associated with C-reactive protein in multiethnic populations using the Metabochip in the Population Architecture using Genomics and Epidemiology (PAGE) study.
Genetic fine mapping of systemic lupus erythematosus MHC associations in Europeans and African Americans.
Ulk2 controls cortical excitatory-inhibitory balance via autophagic regulation of p62 and GABAA receptor trafficking in pyramidal neurons.
A modifier of Huntington's disease onset at the MLH1 locus.
NCEH-1 modulates cholesterol metabolism and protects against α-synuclein toxicity in a C. elegans model of Parkinson's disease.
Identification of the amino acids inserted during suppression of CFTR nonsense mutations and determination of their functional consequences.
Epigenome-wide association study of rheumatoid arthritis identifies differentially methylated loci in B cells.
BDNF overexpression prevents cognitive deficit elicited by adolescent cannabis exposure and host susceptibility interaction.
Bimodal regulation of Dishevelled function by Vangl2 during morphogenesis.
Identification and validation of seven new loci showing differential DNA methylation related to serum lipid profile: an epigenome-wide approach. The REGICOR study.
In vitro and in vivo rescue of aberrant splicing in CEP290-associated LCA by antisense oligonucleotide delivery.
NF1 germline mutation differentially dictates optic glioma formation and growth in neurofibromatosis-1.
Allelic series of Huntington's disease knock-in mice reveals expression discorrelates.
Genetically predicted longer telomere length is associated with increased risk of B-cell lymphoma subtypes.
A critical period of vulnerability to adolescent stress: Epigenetic mediators in mesocortical dopaminergic neurons.
Fine mapping of meiotic NAHR-associated crossovers causing large NF1 deletions.
14-3-3 Proteins regulate mutant LRRK2 kinase activity and neurite shortening.
Identification and validation of seven new loci showing differential DNA methylation related to serum lipid profile: An epigenome-wide approach. The REGICOR study.
Identification of genetic modifiers of age-at-onset for familial Parkinson's disease.
MeCP2 deficiency results in robust Rett-like behavioural and motor deficits in male and female rats.
The Alzheimer's disease risk factor CD2AP maintains blood-brain barrier integrity.
Epigenome-wide association study (EWAS) of BMI, BMI change and waist circumference in African American adults identifies multiple replicated loci.
The G2019S LRRK2 mutation increases myeloid cell chemotactic responses and enhances LRRK2 binding to actin-regulatory proteins.
Leucine-rich repeat kinase 2 deficiency is protective in rhabdomyolysis-induced kidney injury.
A common variant near TGFBR3 is associated with primary open angle glaucoma.
The IRF5-TNPO3 association with systemic lupus erythematosus has two components that other autoimmune disorders variably share.
Elucidating the impact of neurofibromatosis-1 germline mutations on neurofibromin function and dopamine-based learning.
Epigenetic dysregulation of hairy and enhancer of split 4 (HES4) is associated with striatal degeneration in postmortem Huntington brains.
Expanded GAA repeats impede transcription elongation through the FXN gene and induce transcriptional silencing that is restricted to the FXN locus.
Genomic analysis reveals distinct mechanisms and functional classes of SOX10-regulated genes in melanocytes.
Glutaredoxin deficiency exacerbates neurodegeneration in C. Elegans models of Parkinson's disease.
Loss of Wnt5a disrupts second heart field cell deployment and may contribute to OFT malformations in DiGeorge syndrome.
Prostate cancer risk locus at 8q24 as a regulatory hub by physical interactions with multiple genomic loci across the genome..
Pyridoxamine and pyridoxal are more effective than pyridoxine in rescuing folding-defective variants of human alanine: Glyoxylate aminotransferase causing primary hyperoxaluria type I.
Vapb/Amyotrophic lateral sclerosis 8 knock-in mice display slowly progressive motor behavior defects accompanying ER stress and autophagic response.
A genome-wide association study identifies a novel locus at 6q22.1 associated with ulcerative colitis.
OXPHOS dysfunction regulates integrin-β1 modifications and enhances cell motility and migration.
Multi-ethnic fine-mapping of 14 central adiposity loci.
CHD7 interacts with BMP R-SMADs to epigenetically regulate cardiogenesis in mice.
Dystrophic muscle improvement in zebrafish via increased heme oxygenase signaling.
Comprehensive analysis of gene expression in human retina and supporting tissues.
LRRK2 secretion in exosomes is regulated by 14-3-3.
A systemic sclerosis and systemic lupus erythematosus pan-meta-GWAS reveals new shared susceptibility loci..
Insulinotropic treatments exacerbate metabolic syndrome in mice lacking MeCP2 function.
Subcortical dopaminergic deficits in a DISC1 mutant model: A study in direct reference to human molecular brain imaging.
Identification of novel ATP13A2 interactors and their role in α-synuclein misfolding and toxicity.
Motor restlessness, sleep disturbances, thermal sensory alterations and elevated serum iron levels in BTBD9 mutant mice.
Nxnl2 splicing results in dual functions in neuronal cell survival and maintenance of cell integrity.
The early-onset torsion dystonia-associated protein, torsinA, is a homeostatic regulator of endoplasmic reticulum stress response.
Evidence for a role of the rare p.A152T variant in mapt in increasing the risk for FTD-spectrum and Alzheimer's diseases.
Fine-mapping classical HLA variation associated with durable host control of HIV-1 infection in african americans.
Increased hedgehog signaling in postnatal kidney results in aberrant activation of nephron developmental programs.
Allele-specific distribution of RNA polymerase II On female X chromosomes.
Inhibitors of LRRK2 kinase attenuate neurodegeneration and Parkinson-like phenotypes in Caenorhabditis elegans and Drosophila Parkinson's disease models.
Assessing the pathogenic potential of human nephronophthisis disease-associated NPHP-4 missense mutations in C. elegans.
Association of genetic variation with systolic and diastolic blood pressure among African Americans: the Candidate Gene Association Resource study..
Puromycin-sensitive aminopeptidase (PSA/NPEPPS) impedes development of neuropathology in HPSA/TAUP301L double-transgenic mice.
Cyclin-G-associated kinase modifies α-synuclein expression levels and toxicity in Parkinson's disease: Results from the GenePD Study.
Disruption of PCP signaling causes limb morphogenesis and skeletal defects and may underlie Robinow syndrome and brachydactyly type B.
Refining the association of MHC with multiple sclerosis in African Americans.
The early-onset torsion dystonia-associated protein, torsinA, is a homeostatic regulator of endoplasmic reticulum stress response.
Drug screening to identify suppressors of GFAP expression.
Definitive hematopoiesis requires Runx1 C-terminal-mediated subnuclear targeting and transactivation.
Somatic expansion of the Huntington's disease CAG repeat in the brain is associated with an earlier age of disease onset.
Evaluation of imputation-based association in and around the integrin-α-M (ITGAM) gene and replication of robust association between a non-synonymous functional variant within ITGAM and systemic lupus erythematosus (SLE).
A Runx2 threshold for the cleidocranial dysplasia phenotype.
Admixture mapping of quantitative trait loci for blood lipids in African-Americans.
Susceptibility locus for clinical and subclinical coronary artery disease at chromosome 9p21 in the multi-ethnic ADVANCE study.
Genetic variation in the CRP promoter: Association with systemic lupus erythematosus.
Erratum: MYH11 mutations result in a distinct vascular pathology driven by insulin-like growth factor1 and angiotensin II (Human Molecular Genetics (2007) vol. 16 (20) (2453-2462) 10.1093/hmg/ddm201).
MYH11 mutations result in a distinct vascular pathology driven by insulin-like growth factor 1 and angiotensin II.
Opa1 deficiency in a mouse model of autosomal dominant optic atrophy impairs mitochondrial morphology, optic nerve structure and visual function.
Wild-type huntingtin participates in protein trafficking between the Golgi and the extracellular space.
Parkinson's disease-associated mutations in LRRK2 link enhanced GTP-binding and kinase activities to neuronal toxicity.
Lmo7 is an emerin-binding protein that regulates the transcription of emerin and many other muscle-relevant genes.
Mutations in progranulin are a major cause of ubiquitin-positive frontotemporal lobar degeneration.
Genetic background modifies nuclear mutant huntingtin accumulation and HD CAG repeat instability in Huntington's disease knock-in mice.
Molecular pathogenesis of multiple gastrointestinal stromal tumors in NF1 patients.
HD CAG repeat implicates a dominant property of huntingtin in mitochondrial energy metabolism.
The impact of metabolism on DNA methylation.
Transcriptional dysregulation in striatal projection- and interneurons in a mouse model of Huntington's disease: Neuronal selectivity and potential neuroprotective role of HAP1.
Epileptic-like convulsions associated with LIS-1 in the cytoskeletal control of neurotransmitter signaling in Caenorhabditis elegans.
Inflammatory bowel disease susceptibility loci defined by genome scan meta-analysis of 1952 affected relative pairs.
Systematic changes in gene expression in postmortem human brains associated with tissue pH and terminal medical conditions.
Erratum: Glutathione S-transferase omega-1 modifies age-at-onset of Alzheimer disease and Parkinson disease (Human Molecular Genetics (2003) vol. 12 (3259-3267)).
Mutations in ABCA4 result in accumulation of lipofuscin before slowing of the retinoid cycle: A reappraisal of the human disease sequence.
Glutathione S-transferase omega-1 modifies age-at-onset of Alzheimer disease and Parkinson disease.
Linkage and association with pulmonary function measures on chromosome 6q27 in the Framingham Heart Study.
Genome-wide linkage analysis and evidence of gene-by-gene interactions in a sample of 362 multiplex Parkinson disease families.
Suppression of polyglutamine-induced protein aggregation in Caenorhabditis elegans by torsin proteins.
Mutations in TITF-1 are associated with benign hereditary chorea.
Exchange of surface proteins impacts on viral vector cellular specificity and transduction characteristics: The retina as a model.
Cystatin B-deficient mice have increased expression of apoptosis and glial activation genes.
Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype-phenotype correlation.
Gentamicin-mediated suppression of Hurler syndrome stop mutations restores a low level of α-L-iduronidase activity and reduces lysosomal glycosaminoglycan accumulation.
Evidence for a gene influencing the TG/HDL-C ratio on chromosome 7q32.3-qter: A genome-wide scan in the Framingham Study.
A putative Drosophila homolog of the Huntington's disease gene.
PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome.
A Huntington's disease CAG expansion at the murine Hdh locus is unstable and associated with behavioural abnormalities in mice.
Impaired synaptic plasticity in mice carrying the Huntington's disease mutation.
The mutational spectrum of the Sonic Hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of autosomal dominant holoprosencephaly.
A novel phenotypic pattern in X-linked inheritance: Craniofrontonasal syndrome maps to Xp22.
Reduced penetrance of the Huntington's disease mutation.
Molecular Characterization of Breakpoints in Patients with Holoprosencephaly and Definition of the HPE2 Critical Region 2p21.
Evidence from antibody studies that the CAG repeat in the huntington disease gene is expressed in the protein.
Mutations in FGFR1 and FGFR2 cause familial and sporadic pfeiffer syndrome.
Missense mutation (G480C) in the CFTR gene associated with protein mislocalization but normal chloride channel activity.
Reports: Linkage of pfeiffer syndrome to chromosome 8 centromere and evidence for genetic heterogeneity.
Identification of a CFTR frameshift mutation (1013 delAA) in trans to ΔF508 in a pancreatic sufficient cystic fibrosis patient.
A high resolution physical map of 2.5 Mbp of the down syndrome region on chromosome 21.
A transcript map of the down syndrome critical region on chromosome 21.
Identification of genes within CpG-enriched DNA from human chromosome 4p16.3.
Isolation of yeast artificial chromosome clones from 54 polymorphic loci mapped with high odds on human chromosome 4.
Molecular basis of defective anion transport in L cells expressing recombinant forms of CFTR.
The development of sequence-tagged sites for human chromosome 4.
Construction of cosmid contigs and high-resolution restriction mapping of the huntington disease region of human chromosome 4.
Lack of independence between five DNA polymorphisms in the NF1 gene.
Expression of an abundant alternatively spliced form of the cystic fibrosis transmembrane conductance regulator (CFTR) gene is not associated with a camp-activated chloride conductance.
Cloning of the huntington disease region in yeast artificial chromosomes.