Novel missense mutation in the bZIP transcription factor, MAF, associated with congenital cataract, developmental delay, seizures and hearing loss (Aymé-Gripp syndrome)

Por Javadiyan, Shari, Craig, Jamie E., Sharma, Shiwani, Lower, Karen M., Casey, Theresa, Haan, Eric, Souzeau, Emmanuelle, Burdon, Kathryn P.
Publicado no BMC Med Genet (2017)

Recurrent mutation in the crystallin alpha A gene associated with inherited paediatric cataract

Por Javadiyan, Shari, Craig, Jamie E., Souzeau, Emmanuelle, Sharma, Shiwani, Lower, Karen M., Pater, John, Casey, Theresa, Hodson, Trevor, Burdon, Kathryn P.
Publicado no BMC Res Notes (2016)

Partial duplication of the CRYBB1-CRYBA4 locus is associated with autosomal dominant congenital cataract

Por Siggs, Owen M, Javadiyan, Shari, Sharma, Shiwani, Souzeau, Emmanuelle, Lower, Karen M, Taranath, Deepa A, Black, Jo, Pater, John, Willoughby, John G, Burdon, Kathryn P, Craig, Jamie E
Publicado no Eur J Hum Genet (2017)

High-Throughput Genetic Screening of 51 Pediatric Cataract Genes Identifies Causative Mutations in Inherited Pediatric Cataract in South Eastern Australia

Por Javadiyan, Shari, Craig, Jamie E., Souzeau, Emmanuelle, Sharma, Shiwani, Lower, Karen M., Mackey, David A., Staffieri, Sandra E., Elder, James E., Taranath, Deepa, Straga, Tania, Black, Joanna, Pater, John, Casey, Theresa, Hewitt, Alex W., Burdon, Kathryn P.
Publicado no G3 (Bethesda) (2017)

Angiopoietin-1 is required for Schlemm’s canal development in mice and humans

Por Thomson, Benjamin R., Souma, Tomokazu, Tompson, Stuart W., Onay, Tuncer, Kizhatil, Krishnakumar, Siggs, Owen M., Feng, Liang, Whisenhunt, Kristina N., Yanovitch, Tammy L., Kalaydjieva, Luba, Azmanov, Dimitar N., Finzi, Simone, Tanna, Christine E., Hewitt, Alex W., Mackey, David A., Bradfield, Yasmin S., Souzeau, Emmanuelle, Javadiyan, Shari, Wiggs, Janey L., Pasutto, Francesca, Liu, Xiaorong, John, Simon W.M., Craig, Jamie E., Jin, Jing, Young, Terri L., Quaggin, Susan E.
Publicado no J Clin Invest (2017)