Array CGH improves detection of mutations in the GALC gene associated with Krabbe disease

Exon-level array CGH in a large clinical cohort demonstrates increased sensitivity of diagnostic testing for Mendelian disorders

(2012) Swaroop Aradhya et al.   GENETICS IN MEDICINE

Targeted array CGH as a valuable molecular diagnostic approach: Experience in the diagnosis of mitochondrial and metabolic disorders

(2012) Jing Wang et al.   MOLECULAR GENETICS AND METABOLISM

Early Infantile Krabbe Disease: Results of the World-Wide Krabbe Registry

(2012) Patricia K. Duffner et al.   PEDIATRIC NEUROLOGY

Weighing the evidence for newborn screening for early-infantile Krabbe disease

(2010) Alex R Kemper et al.   GENETICS IN MEDICINE

Targeted comparative genomic hybridization array for the detection of single- and multiexon gene deletions and duplications

(2009) Marwan K Tayeh et al.   GENETICS IN MEDICINE

Microarray-based mutation detection in thedystrophingene

(2008) Madhuri R. Hegde et al.   HUMAN MUTATION