Human Molecular Genetics

Altered cell surface expression of human MC1R variant receptor alleles associated with red hair and skin cancer risk

WNT10A exonic variant increases the risk of keratoconus by decreasing corneal thickness

Characterization of the repeat expansion size in C9orf72 in amyotrophic lateral sclerosis and frontotemporal dementia

Case-control study and transmission disequilibrium test provide consistent evidence for association between schizophrenia and genetic variation in the 22q11 gene ZDHHC8

Cardiac malformations and midline skeletal defects in mice lacking filamin A

Calmodulin-binding transcription activator 1 (

Calcium-permeable AMPA receptors promote misfolding of mutant SOD1 protein and development of amyotrophic lateral sclerosis in a transgenic mouse model

Cag Repeat Expansion in Autosomal Dominant Pure Spastic Paraplegia Linked to Chromosome 2p21-p24

Autosomal Dominant Cerulean Cataract Is Associated with a Chain Termination Mutation in the Human -Crystallin Gene CRYBB2

Association Analysis Using Refined Microsatellite Markers Localizes a Susceptibility Locus for Psoriasis Vulgaris Within a 111 kb Segment Telomeric to the HLA-C Gene

Androgen receptor agonists increase lean mass, improve cardiopulmonary functions and extend survival in preclinical models of Duchenne muscular dystrophy

Analysis of FMRP mRNA target datasets reveals highly associated mRNAs mediated by G-quadruplex structures formed via clustered WGGA sequences