A Foundation for a Community Consortium in an Inherited Disease and Complete Mutation Collection
Triangulating in on Chimps, Neanderthals, and Man
SOX17 Mutations Implicated in Urinary Tract Abnormalities
The ribosomal basis of diamond-blackfan anemia: mutation and database update†
D-glyceric aciduria is caused by genetic deficiency of D-glycerate kinase ( GLYCTK )†
Triangulation of the human, chimpanzee, and Neanderthal genome sequences identifies potentially compensated mutations†
Hereditary fructose intolerance: functional study of two novel ALDOB natural variants and characterization of a partial gene deletion†
Generation and analysis of the thiazide-sensitive Na+-Cl− cotransporter (Ncc/Slc12a3) Ser707X knockin mouse as a model of Gitelman syndrome†
Impact of DNA physical properties on local sequence bias of human mutation†
Detection of clinically relevant exonic copy-number changes by array CGH†
Telomere healing following DNA polymerase arrest-induced breakages is likely the main mechanism generating chromosome 4p terminal deletions†
Mutations in SOX17 are associated with congenital anomalies of the kidney and the urinary tract†
COLD PCR HRM: a highly sensitive detection method for IDH1 mutations†
Increased sensitivity of KRAS mutation detection by high-resolution melting analysis of COLD-PCR products†
How to catch all those mutations—the report of the Third Human Variome Project Meeting, UNESCO Paris, May 2010
Evaluating self-declared ancestry of U.S. Americans with autosomal, Y-chromosomal and mitochondrial DNA†
Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease†
The clinical spectrum of missense mutations of the first aspartic acid of cbEGF-like domains in fibrillin-1 including a recessive family†