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14-3-3 Proteins regulate mutant LRRK2 kinase activity and neurite shortening
. 109-122.
A high resolution physical map of 2.5 Mbp of the down syndrome region on chromosome 21
. 3:1811-1817.
A modifier of Huntington's disease onset at the MLH1 locus
. 26:3859-3867.
A novel phenotypic pattern in X-linked inheritance: Craniofrontonasal syndrome maps to Xp22
. 6:1937-1941.
Allelic series of Huntington's disease knock-in mice reveals expression discorrelates
. 1619-1636.
BDNF overexpression prevents cognitive deficit elicited by adolescent cannabis exposure and host susceptibility interaction
. 26.
Cystatin B-deficient mice have increased expression of apoptosis and glial activation genes
. 10:1867-1871.
De novo loss-of-function KCNMA1 variants are associated with a new multiple malformation syndrome and a broad spectrum of developmental and neurological phenotypes
. 28:2937-2951.
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
. 27:2940-2953.
Disruption of PCP signaling causes limb morphogenesis and skeletal defects and may underlie Robinow syndrome and brachydactyly type B
. 20:271-285.
Epigenome-wide association study (EWAS) of BMI, BMI change and waist circumference in African American adults identifies multiple replicated loci
. 24:4464-4479.
Epigenome-wide association study of rheumatoid arthritis identifies differentially methylated loci in B cells
. 26:2803-2811.
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)
. 18:1171-1180.
Evidence for a gene influencing the TG/HDL-C ratio on chromosome 7q32.3-qter: A genome-wide scan in the Framingham Study
. 9:1315-1320.
Evidence from antibody studies that the CAG repeat in the huntington disease gene is expressed in the protein
. 4:465-469.
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
. 2:225.
Fine-mapping classical HLA variation associated with durable host control of HIV-1 infection in african americans
. 21:4334-4347.
Glutathione S-transferase omega-1 modifies age-at-onset of Alzheimer disease and Parkinson disease
. 12:3259-3267.
Identification of a CFTR frameshift mutation (1013 delAA) in trans to ΔF508 in a pancreatic sufficient cystic fibrosis patient
. 3:2063-2064.
Identification of the amino acids inserted during suppression of CFTR nonsense mutations and determination of their functional consequences
. 26:3116-3129.
Impaired synaptic plasticity in mice carrying the Huntington's disease mutation
. 839.
In vitro and in vivo rescue of aberrant splicing in CEP290-associated LCA by antisense oligonucleotide delivery
Increased hedgehog signaling in postnatal kidney results in aberrant activation of nephron developmental programs
. 20:4155-4166.
Inhibitors of LRRK2 kinase attenuate neurodegeneration and Parkinson-like phenotypes in Caenorhabditis elegans and Drosophila Parkinson's disease models
. 20:3933-3942.
Loss of Wnt5a disrupts second heart field cell deployment and may contribute to OFT malformations in DiGeorge syndrome
. 24:1704-1716.
MYH11 mutations result in a distinct vascular pathology driven by insulin-like growth factor 1 and angiotensin II
. 16:2453.
NF1 germline mutation differentially dictates optic glioma formation and growth in neurofibromatosis-1
. 1703-1713.
OXPHOS dysfunction regulates integrin-β1 modifications and enhances cell motility and migration
. 24:1977-1990.
Parkinson's disease-associated mutations in LRRK2 link enhanced GTP-binding and kinase activities to neuronal toxicity
. 16:223-232.
Reduced penetrance of the Huntington's disease mutation
. 6:775-779.
Selective serotonin reuptake inhibitors ameliorate MEGF10 myopathy
. 28:2365-2377.
Skewed allelic expression on X chromosome associated with aberrant expression of XIST on systemic lupus erythematosus lymphocytes
. 29:2523.
Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype-phenotype correlation
. 10.
Susceptibility locus for clinical and subclinical coronary artery disease at chromosome 9p21 in the multi-ethnic ADVANCE study
. 17:2320-2328.
The IRF5-TNPO3 association with systemic lupus erythematosus has two components that other autoimmune disorders variably share
. 24:582-596.
The early-onset torsion dystonia-associated protein, torsinA, is a homeostatic regulator of endoplasmic reticulum stress response
. 19:3502-3515.
Vapb/Amyotrophic lateral sclerosis 8 knock-in mice display slowly progressive motor behavior defects accompanying ER stress and autophagic response
. 24:6515-6529.
Identity
International Standard Serial Number (issn)
0964-6906