Tanya M Bardakjian
- Targeted 'next-generation' sequencing in anophthalmia and microphthalmia patients confirms SOX2, OTX2 and FOXE3 mutationsNelson Lopez Jimenez
Department of Pediatrics, Division of Genetics, University of California, San Francisco, 533 Parnassus St, Room U585P, San Francisco, CA 94143 0748 USA
BMC Med Genet 12:172. 2011..We used next-generation sequencing to screen 15 A/M patients for mutations in 9 pathogenic genes to evaluate this technology for screening in A/M...
- Clinical report of microphthalmia and optic nerve coloboma associated with a de novo microdeletion of chromosome 16p11.2Tanya M Bardakjian
Division of Genetics, Department of Pediatrics, Albert Einstein Medical Center, Philadelphia, Pennsylvania 19141, USA
Am J Med Genet A 152:3120-3. 2010..This report contributes to the growing knowledge regarding this microdeletion and suggests that rare copy number changes may be a cause of microphthalmia and other eye anomalies...
- Familial recurrence of SOX2 anophthalmia syndrome: phenotypically normal mother with two affected daughtersAdele Schneider
Division of Genetics, Albert Einstein Medical Center, Philadelphia, Pennsylvania 19141, USA
Am J Med Genet A 146:2794-8. 2008..Thus it cannot be assumed that all SOX2 mutations in individuals with anophthalmia/microphthalmia are de novo. Testing of parents is indicated when a SOX2 mutation is identified in a proband...
- Association of a de novo 16q copy number variant with a phenotype that overlaps with Lenz microphthalmia and Townes-Brocks syndromesTanya M Bardakjian
Clinical Genetics, Department of Pediatrics, Albert Einstein Medical Center, Philadelphia, PA, USA
BMC Med Genet 10:137. 2009..Townes-Brocks syndrome manifests thumb anomalies, imperforate anus, and ear anomalies. We present a 13-year-old boy with a syndromic microphthalmia phenotype and a clinical diagnosis of Lenz microphthalmia syndrome...
- The genetics of anophthalmia and microphthalmiaTanya M Bardakjian
Albert Einstein Medical Center, Division of Genetics, Philadelphia, Pennsylvania 19141, USA
Curr Opin Ophthalmol 22:309-13. 2011..To summarize recent breakthroughs regarding the genes known to play a role in normal ocular development in humans and to elucidate the role mutations in these genes play in anophthalmia and microphthalmia...
- Identification of novel mutations and sequence variants in the SOX2 and CHX10 genes in patients with anophthalmia/microphthalmiaJie Zhou
Division of Ophthalmology, Children s Hospital of Philadelphia, Philadelphia, PA, USA
Mol Vis 14:583-92. 2008..In this study, we evaluated 34 anophthalmic/microphthalmic patient DNA samples (two sets of siblings included) for mutations and sequence variants in SOX2 and CHX10...
- BMP4 loss-of-function mutations in developmental eye disorders including SHORT syndromeLinda M Reis
Department of Pediatrics, Medical College of Wisconsin, Milwaukee, WI, USA
Hum Genet 130:495-504. 2011....