Search Results - "Staffieri, Sandra E."

Thrombospondin 1 missense alleles induce extracellular matrix protein aggregation and TM dysfunction in congenital glaucoma by Fu, Haojie, Siggs, Owen M, Knight, Lachlan Sw, Staffieri, Sandra E, Ruddle, Jonathan B, Birsner, Amy E, Collantes, Edward Ryan, Craig, Jamie E, Wiggs, Janey L, D'Amato, Robert J

“…Glaucoma is a highly heritable disease that is a leading cause of blindness worldwide. Here, we identified heterozygous thrombospondin 1 (THBS1) missense…”
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Biallelic CPAMD8 Variants Are a Frequent Cause of Childhood and Juvenile Open-Angle Glaucoma by Siggs, Owen M., Souzeau, Emmanuelle, Taranath, Deepa A., Dubowsky, Andrew, Chappell, Angela, Zhou, Tiger, Javadiyan, Shari, Nicholl, Jillian, Kearns, Lisa S., Staffieri, Sandra E., Narita, Andrew, Smith, James E.H., Pater, John, Hewitt, Alex W., Ruddle, Jonathan B., Elder, James E., Mackey, David A., Burdon, Kathryn P., Craig, Jamie E.

“…Developmental abnormalities of the ocular anterior segment in some cases can lead to ocular hypertension and glaucoma. CPAMD8 is a gene of unknown function…”
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Childhood and Early Onset Glaucoma Classification and Genetic Profile in a Large Australasian Disease Registry by Knight, Lachlan S.W., Ruddle, Jonathan B., Taranath, Deepa A., Goldberg, Ivan, Smith, James E.H., Gole, Glen, Chiang, Mark Y., Willett, Faren, D’Mellow, Guy, Breen, James, Qassim, Ayub, Mullany, Sean, Elder, James E., Vincent, Andrea L., Staffieri, Sandra E., Kearns, Lisa S., Mackey, David A., Luu, Susie, Siggs, Owen M., Souzeau, Emmanuelle, Craig, Jamie E.

“…To report the relative frequencies of childhood and early onset glaucoma subtypes and their genetic findings in a large single cohort. Retrospective clinical…”
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Quality of life in children with glaucoma: a qualitative interview study in Australia by Knight, Lachlan S W, Ridge, Bronwyn, Staffieri, Sandra E, Craig, Jamie E, Prem Senthil, Mallika, Souzeau, Emmanuelle

“…ObjectiveChildhood glaucoma is a chronic vision-threatening condition that may significantly impact an individual’s psychosocial well-being. There is a paucity…”
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High-Throughput Genetic Screening of 51 Pediatric Cataract Genes Identifies Causative Mutations in Inherited Pediatric Cataract in South Eastern Australia by 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

“…Pediatric cataract is a leading cause of childhood blindness. This study aimed to determine the genetic cause of pediatric cataract in Australian families by…”
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Mutations in the EPHA2 gene are a major contributor to inherited cataracts in South-Eastern Australia by Dave, Alpana, Laurie, Kate, Staffieri, Sandra E, Taranath, Deepa, Mackey, David A, Mitchell, Paul, Wang, Jie Jin, Craig, Jamie E, Burdon, Kathryn P, Sharma, Shiwani

“…Congenital cataract is the most common cause of treatable visual impairment in children worldwide. Mutations in many different genes lead to congenital…”
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Pathogenic genetic variants identified in Australian families with paediatric cataract by Jones, Johanna L, McComish, Bennet J, Staffieri, Sandra E, Souzeau, Emmanuelle, Kearns, Lisa S, Elder, James E, Charlesworth, Jac C, Mackey, David A, Ruddle, Jonathan B, Taranath, Deepa, Pater, John, Casey, Theresa, Craig, Jamie E, Burdon, Kathryn P

“…ObjectivePaediatric (childhood or congenital) cataract is an opacification of the normally clear lens of the eye and has a genetic basis in at least 18% of…”
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Mitochondrial oxidative phosphorylation compensation may preserve vision in patients with OPA1-linked autosomal dominant optic atrophy by Van Bergen, Nicole J, Crowston, Jonathan G, Kearns, Lisa S, Staffieri, Sandra E, Hewitt, Alex W, Cohn, Amy C, Mackey, David A, Trounce, Ian A

“…Autosomal Dominant Optic Atrophy (ADOA) is the most common inherited optic atrophy where vision impairment results from specific loss of retinal ganglion cells…”
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Living with heritable retinoblastoma and the perceived role of regular follow-up at a retinoblastoma survivorship clinic: ‘That is exactly what I have been missing’ by Gregersen, Pernille Axel, Funding, Mikkel, Alsner, Jan, Olsen, Maja H, Overgaard, Jens, Urbak, Steen F, Staffieri, Sandra E, Lou, Stina

“…ObjectiveTo explore living with heritable retinoblastoma, specifically survivors’ perceived role of regular follow-up at a retinoblastoma survivorship…”
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Diagnostic yield of candidate genes in an Australian corneal dystrophy cohort by Souzeau, Emmanuelle, Siggs, Owen M., Mullany, Sean, Schmidt, Joshua M., Hassall, Mark M., Dubowsky, Andrew, Chappell, Angela, Breen, James, Bae, Haae, Nicholl, Jillian, Hadler, Johanna, Kearns, Lisa S., Staffieri, Sandra E., Hewitt, Alex W., Mackey, David A., Gupta, Aanchal, Burdon, Kathryn P., Klebe, Sonja, Craig, Jamie E., Mills, Richard A.

“…Corneal dystrophies describe a clinically and genetically heterogeneous group of inherited disorders. The International Classification of Corneal Dystrophies…”
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Making glaucoma genetic studies more diverse by Mackey, David A, Staffieri, Sandra E

“…Although the blinding eye disease glaucoma is more common in people of African ancestry, previous genetic studies predominantly involved European subjects. In…”
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Superselective intra-arterial chemotherapy for advanced retinoblastoma complicated by metastatic disease by Mathew, Anu A., MBChB, MD, Sachdev, Nisha, PhD, FRANZCO, Staffieri, Sandra E., BAppSci, McKenzie, John D., MBBS, FRANZCO, Elder, James E., MBBS, FRANZCO

“…We present a case of a child with unilateral group E retinoblastoma (according to the International Classification of Retinoblastoma) who received…”
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Heritability of Strabismus: Genetic Influence Is Specific to Eso-Deviation and Independent of Refractive Error by Sanfilippo, Paul G., Hammond, Christopher J., Staffieri, Sandra E., Kearns, Lisa S., Melissa Liew, S. H., Barbour, Julie M., Hewitt, Alex W., Ge, Dongliang, Snieder, Harold, MacKinnon, Jane R., Brown, Shayne A., Lorenz, Birgit, Spector, Tim D., Martin, Nicholas G., Wilmer, Jeremy B., Mackey, David A.

“…Strabismus represents a complex oculomotor disorder characterized by the deviation of one or both eyes and poor vision. A more sophisticated understanding of…”
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Establishing risk of vision loss in Leber hereditary optic neuropathy by Lopez Sanchez, M. Isabel G., Kearns, Lisa S., Staffieri, Sandra E., Clarke, Linda, McGuinness, Myra B., Meteoukki, Wafaa, Samuel, Sona, Ruddle, Jonathan B., Chen, Celia, Fraser, Clare L., Harrison, John, Hewitt, Alex W., Howell, Neil, Mackey, David A.

“…We conducted an updated epidemiological study of Leber hereditary optic neuropathy (LHON) in Australia by using registry data to establish the risk of vision…”
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Is the disease risk and penetrance in Leber hereditary optic neuropathy actually low? by Mackey, David A., Ong, Jue-Sheng, MacGregor, Stuart, Whiteman, David C., Craig, Jamie E., Lopez Sanchez, M. Isabel G., Kearns, Lisa S., Staffieri, Sandra E., Clarke, Linda, McGuinness, Myra B., Meteoukki, Wafaa, Samuel, Sona, Ruddle, Jonathan B., Chen, Celia, Fraser, Clare L., Harrison, John, Howell, Neil, Hewitt, Alex W.

“…Pedigree analysis showed that a large proportion of Leber hereditary optic neuropathy (LHON) family members who carry a mitochondrial risk variant never lose…”
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Treatment Outcomes and Definition Inconsistencies in High-Risk Unilateral Retinoblastoma by ARAZI, MATTAN, BAUM, ALONA, CASAVILCA-ZAMBRANO, SANDRO, Alarcon-Leon, Sandra, DIAZ-CORONADO, ROSDALI, AHMAD, ALIA, MUSHTAQ, ASMA, HUSSAIN, MAHVISH, USHAKOVA, TATIANA, YURI, SEROV, VLADIMIR, POLYAKOV, SHIELDS, CAROL L., EAGLE, RALPH C., BERRY, JESSE L., PIKE, SARAH, BROWN, BRIANNE, ROY, SOMA RANI, HUQUE, FAHMIDA, FABIAN, INA, FRENKEL, SHAHAR, EIGER-MOSCOVICH, MAYA, PE'ER, JACOB, HUBBARD, G BAKER, OLSON, THOMAS A., GROSSNIKLAUS, HANS, REDDY, M. ASHWIN, SAGOO, MANDEEP S., STAFFIERI, SANDRA E., ELDER, JAMES E., MCKENZIE, JOHN D., TANABE, MIKA, KALIKI, SWATHI, FABIAN, IDO DIDI

“…•High-risk histopathological features predict adverse outcomes in retinoblastoma.•Major discrepancies exist across centers worldwide in defining high-risk…”
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Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases by Iglesias, Adriana I., Mishra, Aniket, Vitart, Veronique, Bykhovskaya, Yelena, Höhn, René, Springelkamp, Henriët, Cuellar-Partida, Gabriel, Gharahkhani, Puya, Bailey, Jessica N. Cooke, Willoughby, Colin E., Li, Xiaohui, Yazar, Seyhan, Nag, Abhishek, Khawaja, Anthony P., Polašek, Ozren, Siscovick, David, Mitchell, Paul, Tham, Yih Chung, Haines, Jonathan L., Kearns, Lisa S., Hayward, Caroline, Shi, Yuan, van Leeuwen, Elisabeth M., Taylor, Kent D., Bonnemaijer, Pieter, Rotter, Jerome I., Martin, Nicholas G., Zeller, Tanja, Mills, Richard A., Souzeau, Emmanuelle, Staffieri, Sandra E., Jonas, Jost B., Schmidtmann, Irene, Boutin, Thibaud, Kang, Jae H., Lucas, Sionne E. M., Wong, Tien Yin, Beutel, Manfred E., Wilson, James F., Uitterlinden, André G., Vithana, Eranga N., Foster, Paul J., Hysi, Pirro G., Hewitt, Alex W., Khor, Chiea Chuen, Pasquale, Louis R., Montgomery, Grant W., Klaver, Caroline C. W., Aung, Tin, Pfeiffer, Norbert, Mackey, David A., Hammond, Christopher J., Cheng, Ching-Yu, Craig, Jamie E., Rabinowitz, Yaron S., Wiggs, Janey L., Burdon, Kathryn P., van Duijn, Cornelia M., MacGregor, Stuart

“…Central corneal thickness (CCT) is a highly heritable trait associated with complex eye diseases such as keratoconus and glaucoma. We perform a genome-wide…”
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Prevalence of FOXC1 Variants in Individuals With a Suspected Diagnosis of Primary Congenital Glaucoma by Siggs, Owen M, Souzeau, Emmanuelle, Pasutto, Francesca, Dubowsky, Andrew, Smith, James E H, Taranath, Deepa, Pater, John, Rait, Julian L, Narita, Andrew, Mauri, Lucia, Del Longo, Alessandra, Reis, André, Chappell, Angela, Kearns, Lisa S, Staffieri, Sandra E, Elder, James E, Ruddle, Jonathan B, Hewitt, Alex W, Burdon, Kathryn P, Mackey, David A, Craig, Jamie E

“…Both primary and secondary forms of childhood glaucoma have many distinct causative mechanisms, and in many cases a cause is not immediately clear. The broad…”
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Improving parents' knowledge of early signs of paediatric eye disease: A double‐blind randomized controlled trial by Staffieri, Sandra E., Rees, Gwyneth, Sanfilippo, Paul G., Cole, Stephen, Mackey, David A., Hewitt, Alex W.

“…Importance Educating parents to recognize signs of eye disease and consult a healthcare professional is critical to timely diagnosis, intervention and…”
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Danish heritable retinoblastoma survivors' perspectives on reproductive choices: “It's important for me, not to pass on this condition” by Gregersen, Pernille A., Funding, Mikkel, Alsner, Jan, Olsen, Maja H., Overgaard, Jens, Urbak, Steen F., Staffieri, Sandra E., Lou, Stina

“…Despite reporting an overall normal life, survivors of heritable retinoblastoma face numerous physical and psychosocial issues. In particular, reproductive…”
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