Human Molecular Genetics

Journal

Publication Venue For

  • 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.
  • International Standard Serial Number (issn)

  • 0964-6906