|
1
|
Next generation sequencing in research and diagnostics of ocular birth defects.
|
Mol Genet Metab
|
2010
|
1.21
|
|
2
|
Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database.
|
Hum Mutat
|
2012
|
1.15
|
|
3
|
Array comparative genomic hybridization analysis in patients with anophthalmia, microphthalmia, and coloboma.
|
Genet Med
|
2011
|
0.94
|
|
4
|
Infant hearing loss and connexin testing in a diverse population.
|
Genet Med
|
2008
|
0.91
|
|
5
|
Evaluation of newborn screening bloodspot-based genetic testing as second tier screen for bedside newborn hearing screening.
|
Genet Med
|
2011
|
0.90
|
|
6
|
Typical renal-coloboma syndrome phenotype in a patient with a submicroscopic deletion of the PAX2 gene.
|
Am J Med Genet A
|
2012
|
0.75
|