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J

Judy Savige

University of Melbourne

50H指数
351论文数
9.3K被引数
收录论文 80
发表时间
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Alport Syndrome May Be More Common in People of East Asian AncestryAlport综合征在东亚血统人群中可能更常见
errAmerican Journal of Kidney Diseases
IF8.2
err2026-07-21
err0
PREAI
errJudy Savige; Mary Huang
err分享
err收藏
Caring for Australians and New ZealandeRs with kidney Impairment guideline commentary on kidney disease: improving global outcomes 2025 guidelines for diagnosis and management of autosomal polycystic kidney disease关爱澳大利亚和新西兰肾损伤患者指南——对《肾脏疾病：改善全球预后2025年指南》中关于常染色体多囊肾病的诊断和管理指南的评论
errInternal Medicine Journal
IF1.5
err2026-06-01
err0
errOAAI
errAbdy, Mia E.; St Pierre, Kitty; Major, Emily; Alexander, Stephen I.; Cashmore, Brydee; Coolican, Helen; Cullen, Vanessa; Dawson, Jessica; Lambert, Kelly; Lee, Vincent W.; Mallawaarachi, Amali; Rangan, Gopala; Savige, Judy; Varughese, Santosh; Tunnicliffe, David J.; Mallett, Andrew J.
err分享
err收藏
The population frequency of predicted pathogenic genetic variants in commonly affected CAKUT genes in the general population预测的致病性遗传变异在一般人群中常见受影响的CAKUT基因中的群体频率
errPediatric Nephrology
IF2.6
err2026-05-16
err0
errOAAI
errMary Huang; Judy Savige
err分享
err收藏
Autosomal Dominant Alport Syndrome常染色体显性遗传性Alport综合征
errJournal of the American Society of Nephrology
IF9.4
err2026-05-01
err0
PREAI
errSavige, Judy; Huang, Mary
err分享
err收藏
‘Missing’ disease-causing variants in Alport syndromeAlport综合征的 “缺失” 致病变异
errNature Reviews Nephrology
IF39.8
err2026-03-11
err0
PREAI
errJudy Savige; Adam M. Bournazos; Tomoko Horinouchi; Bryony A. Thompson; Yanqin Zhang; Julia Hoefele; Mary Huang
err分享
err收藏
Population frequency of Predicted pathogenic MisMatch Repair (MMR) gene variants in Lynch syndrome from bioinformatic analyses of the general populationLynch综合征中预测致病的错配修复（MMR）基因变异在普通人群中的流行频率，来自生物信息学分析。
errScientific Reports
IF3.9
err2025-10-03
err0
errOAAI
errYiwen Guan; Mary Huang; Finlay Macrae; Xiaoyu Yin; John-Paul Plazzer; Judy Savige
err分享
err收藏
Typical and atypical ADPKD: predicted pathogenic genetic variants and population frequencies典型与非典型ADPKD：预测的致病性遗传变异及人群频率
errNephrology Dialysis Transplantation
IF5.6
err2025-10-01
err0
errOAAI
errVarughese, Santosh; Huang, Mary; Savige, Judy
err分享
err收藏
Lithuanian Study on COL4A3 and COL4A4 Genetic Variants in Alport Syndrome: Clinical Characterization of 52 Individuals from 38 Families立陶宛关于Alport综合征COL4A3和COL4A4基因变异的研究：来自38个家庭的52例患者的临床特征分析
errInternational Journal of Molecular Sciences 2025, Vol. 26, Page 7639
IF4.9
err2025-08-07
err0
errOAAI
errAgne Cerkauskaite-Kerpauskiene; Milda Navickaite; Judy Savige; Gabija Mazur; Deimante Brazdziunaite; Karolis Azukaitis; Gerda Slazaite; Rasa Strupaite-Sileikiene; Ausrine Misevice; Vaiva Mickeviciene
err分享
err收藏
Erratum to “Extrarenal Clinical Features are Reported for Most Genes Implicated in Genetic Kidney Disease” [Kidney International Reports Volume 10, Issue 4, April 2025, Pages 1196-1204]勘误：“Extrarenal Clinical Features are Reported for Most Genes Implicated in Genetic Kidney Disease” [Kidney International Reports Volume 10, Issue 4, April 2025, Pages 1196-1204]
errKidney International Reports
IF5.7
err2025-05-17
err0
errOAAI
errBenjamin Serrano; Judy Savige
err分享
err收藏
Developing a more accurate population frequency of Marfan syndrome from predicted pathogenic FBN1 variants in the gnomAD cohorts
errSCIENTIFIC REPORTS
IF3.9
err2025-03-18
err0
errOAAI
errChoi, K.; Huang, M.; Savige, J.
err分享
err收藏
Extrarenal Clinical Features are Reported for Most Genes Implicated in Genetic Kidney Disease大多数与遗传性肾脏病相关的基因存在报告的肾外临床特征。
errKIDNEY INTERNATIONAL REPORTS
IF5.7
err2025-02-01
err0
errOAAI
errSerrano, Benjamin; Savige, Judy
err分享
err收藏
Understanding Better the Genetic Causes of Hematuria
errJOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
IF9.4
err2024-11-27
err0
PREAI
errSavige, Judy
err分享
err收藏
Tips for Testing Adults With Suspected Genetic Kidney Disease
errAMERICAN JOURNAL OF KIDNEY DISEASES
IF8.2
err2024-06-01
err0
PREAI
errSavige, Judy
err分享
err收藏
Drusen and Other Retinal Findings in People With IgA Glomerulonephritis
errAMERICAN JOURNAL OF OPHTHALMOLOGY
IF4.2
err2024-01-01
err0
errOAAI
errGreferath, Ursula; Fletcher, Erica; Savige, Judy; Mack, Heather G.
err分享
err收藏
Retinal small vessel narrowing in women with gestational diabetes, pregnancy-associated hypertension, or small-for-gestational age babies
errFRONTIERS IN MEDICINE
IF3
err2023-10-16
err0
errOAAI
errPhillipos, Joseph; Luong, Thao Vi; Chang, Deborah; Varadarajan, Suresh; Howat, Paul; Hodgson, Lauren; Colville, Deb; Savige, Judy
err分享
err收藏
Population Frequency of Undiagnosed Fabry Disease in the General Population
errKIDNEY INTERNATIONAL REPORTS
IF5.7
err2023-07-01
err6
errOAAI
errKermond-Marino, Amalia; Weng, Annie; Zhang, Selina Kai Xi; Tran, Zac; Huang, Mary; Savige, Judy
err分享
err收藏
What patients want to know about genetic testing for kidney disease
errFRONTIERS IN MEDICINE
IF3
err2023-06-05
err4
errOAAI
errSavige, Judy; Weinstock, B. Andre
err分享
err收藏
A founder COL4A4 pathogenic variant resulting in autosomal recessive Alport syndrome accounts for most genetic kidney failure in Romani people
errFRONTIERS IN MEDICINE
IF3
err2023-02-08
err3
errOAAI
errPlevova, Pavlina; Indrakova, Jana; Savige, Judy; Kuhnova, Petra; Tvrda, Petra; Cerna, Dita; Hilscherova, Sarka; Kudrejova, Monika; Polendova, Daniela; Jaklova, Radka; Langova, Martina; Jahnova, Helena; Lastuvkova, Jana; Dusek, Jiri; Gut, Josef; Vlckova, Marketa; Solarova, Pavla; Kreckova, Gabriela; Kantorova, Eva; Soukalova, Jana; Slavkovsky, Rastislav; Zapletalova, Jana; Tichy, Tomas; Thomasova, Dana
err分享
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Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria (vol 29, pg 1186, 2021)
errEUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
err2023-01-31
err1
errOAAI
errSavige, Judy; Storey, Helen; Watson, Elizabeth; Hertz, Jens Michael; Deltas, Constantinos; Renieri, Alessandra; Mari, Francesca; Hilbert, Pascale; Plevova, Pavlina; Byers, Peter; Cerkauskaite, Agne; Gregory, Martin; Cerkauskiene, Rimante; Ljubanovic, Danica Galesic; Becherucci, Francesca; Errichiello, Carmela; Massella, Laura; Aiello, Valeria; Lennon, Rachel; Hopkinson, Louise; Koziell, Ania; Lungu, Adrian; Rothe, Hansjorg Martin; Hoefele, Julia; Zacchia, Miriam; Martic, Tamara Nikuseva; Gupta, Asheeta; van Eerde, Albertien; Gear, Susie; Landini, Samuela; Palazzo, Viviana; al-Rabadi, Laith; Claes, Kathleen; Corveleyn, Anniek; Van Hoof, Evelien; van Geel, Micheel; Williams, Maggie; Ashton, Emma; Belge, Hendica; Ars, Elisabeth; Bierzynska, Agnieszka; Gangemi, Concetta; Lipska-Zietkiewicz, Beata S.
err分享
err收藏
The 2019 and 2021 International workshops on Alport syndrome (vol 30, 507, 2022)
errEUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
err2023-01-24
err0
errOAAI
errDaga, Sergio; Ding, Jie; Deltas, Constantinos; Savige, Judy; Lipska-Zietkiewicz, Beata S.; Hoefele, Julia; Flinter, Frances; Gale, Daniel P.; Aksenova, Marina; Kai, Hirofumi; Perin, Laura; Barua, Moumita; Torra, Roser; Miner, Jeff H.; Massella, Laura; Ljubanovic, Danica Galesic; Lennon, Rachel; Weinstock, Andre B.; Knebelmann, Bertrand; Cerkauskaite, Agne; Gear, Susie; Gross, Oliver; Turner, A. Neil; Baldassarri, Margherita; Pinto, Anna Maria; Renieri, Alessandra
err分享
err收藏

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