Melanie A. Jones

Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum–associated degradation pathway

Gregory M. Enns, Vandana Shashi, Matthew N. Bainbridge et al. · Genetics in Medicine · 2014 · 236 citations · Full text

Genetics, Endocytic Pathway, Protein Degradation +6

Missense Mutations in CRELD1 Are Associated with Cardiac Atrioventricular Septal Defects

Susan W. Robinson, Cynthia D. Morris, Elizabeth Goldmuntz et al. · The American Journal of Human Genetics · 2003 · 214 citations · Full text

Missense Mutations, Cardiomyopathy, Cardiovascular Disease +9

Mutations in the Glycosylphosphatidylinositol Gene PIGL Cause CHIME Syndrome

Bobby G. Ng, Karl Hackmann, Melanie A. Jones et al. · The American Journal of Human Genetics · 2012 · 124 citations · Full text

Molecular Physiology, Mendelian Disorder, Genetic Disorder +5

Targeted polymerase chain reaction-based enrichment and next generation sequencing for diagnostic testing of congenital disorders of glycosylation

Melanie A. Jones, Shruti Bhide, Ephrem Chin et al. · Genetics in Medicine · 2011 · 90 citations · Full text

Bioinformatics, Dna Sequencing, Next Generation +13

Mechanisms of Pharmacological Rescue of Trafficking-defective hERG Mutant Channels in Human Long QT Syndrome

Qiuming Gong, Melanie A. Jones, Zhengfeng Zhou · Journal of Biological Chemistry · 2005 · 79 citations · Full text

Herg Channel, Molecular Biology, Cellular Physiology +18