日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Leber Hereditary Optic Neuropathy: Support, Genetic Prediction and Accurate Genetic Counselling Enhance Family Planning Choices

莱伯遗传性视神经病变:支持、基因预测和精准的基因咨询增强了家庭计划的选择

Kearns, Lisa S; Staffieri, Sandra E; Mackey, David A

Patient experiences and perceived value of genetic testing in inherited retinal diseases: a cross-sectional survey

患者对遗传性视网膜疾病基因检测的体验和感知价值:一项横断面调查

Britten-Jones, Alexis Ceecee; Schultz, Joshua; Mack, Heather G; Kearns, Lisa S; Huq, Aamira J; Ruddle, Jonathan B; Mackey, David A; Hewitt, Alex W; Edwards, Thomas L; Ayton, Lauren N

Is the disease risk and penetrance in Leber hereditary optic neuropathy actually low?

莱伯遗传性视神经病变的患病风险和外显率真的低吗?

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

Pathogenic genetic variants identified in Australian families with paediatric cataract

在澳大利亚患有儿童白内障的家族中发现了致病性基因变异

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

Patient care standards for primary mitochondrial disease in Australia: an Australian adaptation of the Mitochondrial Medicine Society recommendations

澳大利亚原发性线粒体疾病患者护理标准:线粒体医学学会建议的澳大利亚版

Sue, Carolyn M; Balasubramaniam, Shanti; Bratkovic, Drago; Bonifant, Catherine; Christodoulou, John; Coman, David; Crawley, Karen; Edema-Hildebrand, Fabienne; Ellaway, Carolyn; Ghaoui, Roula; Kava, Maina; Kearns, Lisa S; Lee, Joy; Liang, Christina; Mackey, David A; Murray, Sean; Needham, Merrilee; Rius, Rocio; Russell, Jacqui; Smith, Nicholas J C; Thyagarajan, Dominic; Wools, Christine

Establishing risk of vision loss in Leber hereditary optic neuropathy

确定莱伯遗传性视神经病变患者的视力丧失风险

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

A novel AFG3L2 mutation close to AAA domain leads to aberrant OMA1 and OPA1 processing in a family with optic atrophy

一种位于 AAA 结构域附近的新型 AFG3L2 突变导致 OMA1 和 OPA1 加工异常,该家族患有视神经萎缩。

Baderna, Valentina; Schultz, Joshua; Kearns, Lisa S; Fahey, Michael; Thompson, Bryony A; Ruddle, Jonathan B; Huq, Aamira; Maltecca, Francesca

The genetic and clinical landscape of nanophthalmos and posterior microphthalmos in an Australian cohort

澳大利亚人群中小眼球和后部小眼球的遗传和临床特征

Siggs, Owen M; Awadalla, Mona S; Souzeau, Emmanuelle; Staffieri, Sandra E; Kearns, Lisa S; Laurie, Kate; Kuot, Abraham; Qassim, Ayub; Edwards, Thomas L; Coote, Michael A; Mancel, Erica; Walland, Mark J; Dondey, Joanne; Galanopoulous, Anna; Casson, Robert J; Mills, Richard A; MacArthur, Daniel G; Ruddle, Jonathan B; Burdon, Kathryn P; Craig, Jamie E

Author Correction: Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases

作者更正:跨种族全基因组关联分析证实角膜厚度与复杂眼病和孟德尔遗传眼病之间存在关联。

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

Prevalence of FOXC1 Variants in Individuals With a Suspected Diagnosis of Primary Congenital Glaucoma

疑似原发性先天性青光眼患者中 FOXC1 变异的患病率

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