Human Molecular Genetics Journal

Research

keywords

• 06 Biological Sciences, 11 Medical and Health Sciences

Other

publication venue for

• Quantitative proteomics identifies proteins that resist translational repression and become dysregulated in ALS-FUS 2019
• Repetitive element transcripts are elevated in the brain of C9orf72 ALS/FTLD patients 2017
• A multiancestry study identifies novel genetic associations with CHRNA5 methylation in human brain and risk of nicotine dependence 2015
• A piggyBac insertion disrupts Foxl2 expression that mimics BPES syndrome in mice 2014
• Heterozygous Lmna(delK32) mice develop dilated cardiomyopathy through a combined pathomechanism of haploinsufficiency and peptide toxicity 2013
• Evidence for FHL1 as a novel disease gene for isolated hypertrophic cardiomyopathy 2012
• Rare missense variants in CHRNB4 are associated with reduced risk of nicotine dependence 2012
• Folic acid supplementation can adversely affect murine neural tube closure and embryonic survival 2011
• KASH protein Syne-2/Nesprin-2 and SUN proteins SUN1/2 mediate nuclear migration during mammalian retinal development 2011
• Large non-coding RNAs: missing links in cancer? 2010
• Neurotoxic effects of TDP-43 overexpression in C-elegans 2010
• The PCP genes Celsr1 and Vangl2 are required for normal lung branching morphogenesis 2010
• A mouse model for Meckel syndrome reveals Mks1 is required for ciliogenesis and Hedgehog signaling 2009
• Risk for nicotine dependence and lung cancer is conferred by mRNA expression levels and amino acid change in CHRNA5 2009
• AIP-1 ameliorates beta-amyloid peptide toxicity in a Caenorhabditis elegans Alzheimer's disease model 2009
• The neuronal nicotinic receptor subunit genes (CHRNA6 and CHRNB3) are associated with subjective responses to tobacco 2008
• Mapping of an autoimmunity susceptibility locus (AIS1) to chromosome 1p31.3-p32.2 2002