Tanya Bardakjian

Author PubWeight™ 8.84^‹?›

Rank	Title	Journal	Year	PubWeight™‹?›
1	Novel SOX2 mutations and genotype-phenotype correlation in anophthalmia and microphthalmia.	Am J Med Genet A	2009	1.33
2	BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects.	Eur J Hum Genet	2009	1.15
3	FOXE3 plays a significant role in autosomal recessive microphthalmia.	Am J Med Genet A	2010	1.06
4	ALDH1A3 loss of function causes bilateral anophthalmia/microphthalmia and hypoplasia of the optic nerve and optic chiasm.	Hum Mol Genet	2013	1.01
5	VAX1 mutation associated with microphthalmia, corpus callosum agenesis, and orofacial clefting: the first description of a VAX1 phenotype in humans.	Hum Mutat	2011	0.95
6	A male with unilateral microphthalmia reveals a role for TMX3 in eye development.	PLoS One	2010	0.92
7	Genetic defects of GDF6 in the zebrafish out of sight mutant and in human eye developmental anomalies.	BMC Genet	2010	0.87
8	Examination of SOX2 in variable ocular conditions identifies a recurrent deletion in microphthalmia and lack of mutations in other phenotypes.	Mol Vis	2010	0.84
9	Targeted 'next-generation' sequencing in anophthalmia and microphthalmia patients confirms SOX2, OTX2 and FOXE3 mutations.	BMC Med Genet	2011	0.79