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I

Igor Stevanovski

Garvan Institute of Medical Research
H指数:15
被引数:1,258

个人简介

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荣誉奖项

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The origin and evolution of tuna sex chromosomes
BMC Genomics
IF3.7
2026-07-300
OA
Peter M. Grewe; Jillian M. Hammond; Andre L. M. Reis; Floriaan Devloo-Delva; Igor Stevanovski; Jorden Aulich; Nicola Potter; John R. Hyde; Clare E. Holleley; Adriane C. Machado; Damian Jaccoud; Campbell R. Davies; Ira W. Deveson
Targeted long-read sequencing enables comprehensive analysis of the genetic and epigenetic landscape of inherited myopathies

靶向长读长测序技术可实现遗传性肌病遗传与表观遗传景观的全面分析

Nature Communications
IF15.7
2026-07-040
OAAI
Dennis Yeow; Andre L. M. Reis; Igor Stevanovski; Neysa Njo; Laura I. Rudaks; Bianca R. Grosz; Joanne S. Sy; Leah Kemp; Sanjog R. Chintalaphani; Michael Chin; Marion Stoll; Danqing Zhu; Christina Liang; Katrina A. Morris; Andrew Hannaford; Ehsan Shandiz; Kate E. Ahmad; Shadi El-Wahsh; Stephen W. Reddel; Robert Boland-Freitas; Roula Ghaoui; Stephanie Barnes; Jonathan Sturm; Anna Willard; Mahi Jasinarachchi; Simon Hawke; Neil G. Simon; Lisa Worgan; David Manser; Michel Tchan; Neil C. Griffith; Ryan L. Davis; Michael C. Fahey; Carolyn M. Sue; Pamela A. McCombe; Karl Ng; Marina L. Kennerson; Pak Leng Cheong; Kishore R. Kumar; Ira W. Deveson
Targeted sequencing and iterative assembly of near-complete genomes

靶向测序和近完整基因组的迭代组装

Nature Communications
IF15.7
2025-11-240
OAAI
Hasindu Gamaarachchi; Igor Stevanovski; Jillian M. Hammond; Andre L. M. Reis; Melissa Rapadas; Kavindu Jayasooriya; Tonia Russell; Dennis Yeow; Yvonne Hort; Chirag Patel; Andrew J. Mallett; Elaine Stackpoole; Lauren Roman; Luke W. Silver; Carolyn J. Hogg; Louise M. Streeting; Ozren Bogdanovic; Renata Coelho Rodrigues Noronha; Luís Adriano Santos do Nascimento; Adauto Lima Cardoso; Arthur Georges; Haoyu Cheng; Hardip R. Patel; Kishore Raj Kumar; Amali C. Mallawaarachchi; Ira W. Deveson
Pseudodominant Inheritance of Biallelic RFC1 Expansions—Revisiting the 3p22-p24 HSN1B Locus

RFC1基因双等位基因扩展的假显性遗传——重新审视3p22-p24 HSN1B位点

Journal of the Peripheral Nervous System
IF3.2
2025-10-140
PRE
Bianca R. Grosz; Melina Ellis; Shuchi Trivedi; Carolin Scriba; Marion Stoll; Danqing Zhu; Sanjog R. Chintalaphani; Igor Stevanovski; Andrea Cortese; Penelope J. Spring; Nigel G. Laing; Ira W. Deveson; Mary M. Reilly; Garth A. Nicholson; Kishore R. Kumar; Steve Vucic; Marina L. Kennerson
Repeat Expansions in PLIN4 Cause Autosomal Dominant Vacuolar Myopathy With Sarcolemmal Features

PLIN4中的重复扩展导致具有肌膜特征的常染色体显性空泡性肌病

Annals of Clinical and Translational Neurology
IF3.9
2025-07-220
OA
Laura Llansó; Igor Stevanovski; Germán Morís; Roger Collet-Vidiella; Alba Segarra-Casas; Lidia González-Quereda; Benjamín Rodríguez-Santiago; Pia Gallano; Rodrigo Alvarez; Ana Vesperinas; Rosa Blanco; Beatriz San-Millán; Carmen Navarro; Isabel Illa; Gianina Ravenscroft; Ira W. Deveson; Eduard Gallardo; Montse Olivé
Targeted Long-Read Sequencing as a Single Assay Improves the Diagnosis of Spastic-Ataxia Disorders
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY
IF3.9
2025-02-251
OA
Rudaks, Laura Ivete; Stevanovski, Igor; Yeow, Dennis; Reis, Andre L. M.; Chintalaphani, Sanjog R.; Cheong, Pak Leng; Gamaarachchi, Hasindu; Worgan, Lisa; Ahmad, Kate; Hayes, Michael; Hannaford, Andrew; Kim, Samuel; Fung, Victor S. C.; Halmagyi, Gabor M.; Martin, Andrew; Manser, David; Tchan, Michel; Ng, Karl; Kennerson, Marina L.; Deveson, Ira W.; Kumar, Kishore Raj
A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry (vol 15, 6327, 2024)
NATURE COMMUNICATIONS
IF15.7
2024-10-170
OAAI
Cortese, Andrea; Beecroft, Sarah J.; Facchini, Stefano; Curro, Riccardo; Cabrera-Serrano, Macarena; Stevanovski, Igor; Chintalaphani, Sanjog R.; Gamaarachchi, Hasindu; Weisburd, Ben; Folland, Chiara; Monahan, Gavin; Scriba, Carolin K.; Dofash, Lein; Johari, Mridul; Grosz, Bianca R.; Ellis, Melina; Fearnley, Liam G.; Tankard, Rick; Read, Justin; Merve, Ashirwad; Dominik, Natalia; Vegezzi, Elisa; Schnekenberg, Ricardo P.; Fernandez-Eulate, Gorka; Masingue, Marion; Giovannini, Diane; Delatycki, Martin B.; Storey, Elsdon; Gardner, Mac; Amor, David J.; Nicholson, Garth; Vucic, Steve; Henderson, Robert D.; Robertson, Thomas; Dyke, Jason; Fabian, Vicki; Mastaglia, Frank; Davis, Mark R.; Kennerson, Marina; Quinlivan, Ros; Hammans, Simon; Tucci, Arianna; Bahlo, Melanie; McLean, Catriona A.; Laing, Nigel G.; Stojkovic, Tanya; Houlden, Henry; Hanna, Michael G.; Deveson, Ira W.; Lockhart, Paul J.; Lamont, Phillipa J.; Fahey, Michael C.; Bugiardini, Enrico; Ravenscroft, Gianina
A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry
NATURE COMMUNICATIONS
IF15.7
2024-07-272
OAAI
Cortese, Andrea; Beecroft, Sarah J.; Facchini, Stefano; Curro, Riccardo; Cabrera-Serrano, Macarena; Stevanovski, Igor; Chintalaphani, Sanjog R.; Gamaarachchi, Hasindu; Weisburd, Ben; Folland, Chiara; Monahan, Gavin; Scriba, Carolin K.; Dofash, Lein; Johari, Mridul; Grosz, Bianca R.; Ellis, Melina; Fearnley, Liam G.; Tankard, Rick; Read, Justin; Merve, Ashirwad; Dominik, Natalia; Vegezzi, Elisa; Schnekenberg, Ricardo P.; Fernandez-Eulate, Gorka; Masingue, Marion; Giovannini, Diane; Delatycki, Martin B.; Storey, Elsdon; Gardner, Mac; Amor, David J.; Nicholson, Garth; Vucic, Steve; Henderson, Robert D.; Robertson, Thomas; Dyke, Jason; Fabian, Vicki; Mastaglia, Frank; Davis, Mark R.; Kennerson, Marina; Quinlivan, Ros; Hammans, Simon; Tucci, Arianna; Bahlo, Melanie; McLean, Catriona A.; Laing, Nigel G.; Stojkovic, Tanya; Houlden, Henry; Hanna, Michael G.; Deveson, Ira W.; Lockhart, Paul J.; Lamont, Phillipa J.; Fahey, Michael C.; Bugiardini, Enrico; Ravenscroft, Gianina; Oflazer, Piraye; Basak, Nazli A.; Kayserili, Hulya; Yesil, Gozde; Malfatti, Edoardo; Lilliker, James B.; Wicklund, Matthew; Pitceathly, Robert D. S.; Brady, Stefen; Brais, Bernard; Pellerin, David; Zuchner, Stephan; Danzi, Matt C.; Grandis, Marina; Comi, Giacomo P.; Corti, Stefania P.; Abati, Elena; Toscano, Antonio; Manini, Arianna; Ghia, Arianna; Tassorelli, Cristina; Quartesan, Ilaria; Simone, Roberto; Rossor, Alexander M.; Reilly, Mary M.; Carroll, Liam; Straub, Volker; Udd, Bjarne; Chen, Zhiyong; Bonne, Gisele
A common flanking variant is associated with enhanced stability of the FGF14-SCA27B repeat locus

一个常见的侧翼变异与FGF14-SCA27B重复基因座的稳定性增强有关

NATURE GENETICS
IF31.8
2024-06-272
PRE
Pellerin, David; Del Gobbo, Giulia F.; Couse, Madeline; Dolzhenko, Egor; Nageshwaran, Sathiji K.; Cheung, Warren A.; Xu, Isaac R. L.; Dicaire, Marie-Josee; Spurdens, Guinevere; Matos-Rodrigues, Gabriel; Stevanovski, Igor; Scriba, Carolin K.; Rebelo, Adriana; Roth, Virginie; Wandzel, Marion; Bonnet, Celine; Ashton, Catherine; Agarwal, Aman; Peter, Cyril; Hasson, Dan; Tsankova, Nadejda M.; Dewar, Ken; Lamont, Phillipa J.; Laing, Nigel G.; Renaud, Mathilde; Houlden, Henry; Synofzik, Matthis; Usdin, Karen; Nussenzweig, Andre; Napierala, Marek; Chen, Zhao; Jiang, Hong; Deveson, Ira W.; Ravenscroft, Gianina; Akbarian, Schahram; Eberle, Michael A.; Boycott, Kym M.; Pastinen, Tomi; Brais, Bernard; Zuchner, Stephan; Danzi, Matt C.
A deep intronic variant in MME causes autosomal recessive Charcot-Marie-Tooth neuropathy through aberrant splicing

MME中的深层内含子变体通过异常剪接导致常染色体隐性charcot-marie-tooth神经病

JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM
IF3.2
2024-06-110
OAAI
Grosz, Bianca R.; Parmar, Jevin M.; Ellis, Melina; Bryen, Samantha; Simons, Cas; Reis, Andre L. M.; Stevanovski, Igor; Deveson, Ira W.; Nicholson, Garth; Laing, Nigel; Wallis, Mathew; Ravenscroft, Gianina; Kumar, Kishore R.; Vucic, Steve; Kennerson, Marina L.
Narrowing the diagnostic gap: Genomes, episignatures, long-read sequencing, and health economic analyses in an exome-negative intellectual disability cohort

缩小诊断差距: 外显子组阴性智力障碍队列中的基因组，表生特征，长阅读测序和健康经济学分析

GENETICS IN MEDICINE
IF6.2
2024-05-012
PRE
Dias, Kerith-Rae; Shrestha, Rupendra; Schofield, Deborah; Evans, Carey-Anne; O'Heir, Emily; Zhu, Ying; Zhang, Futao; Standen, Krystle; Weisburd, Ben; Stenton, Sarah L.; Sanchis-Juan, Alba; Brand, Harrison; Talkowski, Michael E.; Ma, Alan; Ghedia, Sondy; Wilson, Meredith; Sandaradura, Sarah A.; Smith, Janine; Kamien, Benjamin; Turner, Anne; Bakshi, Madhura; Ades, Lesley C.; Mowat, David; Regan, Matthew; McGillivray, George; Savarirayan, Ravi; White, Susan M.; Tan, Tiong Yang; Stark, Zornitza; Brown, Natasha J.; Perez-Jurado, Luis A.; Krzesinski, Emma; Hunter, Matthew F.; Akesson, Lauren; Fennell, Andrew Paul; Yeung, Alison; Boughtwood, Tiffany; Ewans, Lisa J.; Kerkhof, Jennifer; Lucas, Christopher; Carey, Louise; French, Hugh; Rapadas, Melissa; Stevanovski, Igor; Deveson, Ira W.; Cliffe, Corrina; Elakis, George; Kirk, Edwin P.; Dudding-Byth, Tracy; Fletcher, Janice; Walsh, Rebecca; Corbett, Mark A.; Kroes, Thessa; Gecz, Jozef; Meldrum, Cliff; Cliffe, Simon; Wall, Meg; Lunke, Sebastian; North, Kathryn; Amor, David J.; Field, Michael; Sadikovic, Bekim; Buckley, Michael F.; O'Donnell-Luria, Anne; Roscioli, Tony
RFC1 in an Australasian neurological disease cohort: extending the genetic heterogeneity and implications for diagnostics

澳大利亚神经系统疾病队列中的RFC1: 扩展遗传异质性及其对诊断的意义

BRAIN COMMUNICATIONS
IF4.5
2023-07-256
OAAI
Scriba, Carolin K.; Stevanovski, Igor; Chintalaphani, Sanjog R.; Gamaarachchi, Hasindu; Ghaoui, Roula; Ghia, Darshan; Henderson, Robert D.; Jordan, Nerissa; Winkel, Antony; Lamont, Phillipa J.; Rodrigues, Miriam J.; Roxburgh, Richard H.; Weisburd, Ben; Laing, Nigel G.; Deveson, Ira W.; Davis, Mark R.; Ravenscroft, Gianina
Normal and pathogenic variation of RFC1 repeat expansions: implications for clinical diagnosis

RFC1重复扩增的正常和致病性变异: 对临床诊断的意义

BRAIN
IF11.7
2023-07-1432
OAAI
Dominik, Natalia; Magri, Stefania; Curro, Riccardo; Abati, Elena; Facchini, Stefano; Corbetta, Marinella; Macpherson, Hannah; Di Bella, Daniela; Sarto, Elisa; Stevanovski, Igor; Chintalaphani, Sanjog R.; Akcimen, Fulya; Manini, Arianna; Vegezzi, Elisa; Quartesan, Ilaria; Montgomery, Kylie-Ann; Pirota, Valentina; Crespan, Emmanuele; Perini, Cecilia; Grupelli, Glenda Paola; Tomaselli, Pedro J.; Marques, Wilson; Shaw, Joseph; Polke, James; Salsano, Ettore; Fenu, Silvia; Pareyson, Davide; Pisciotta, Chiara; Tofaris, George K.; Nemeth, Andrea H.; Ealing, John; Radunovic, Aleksandar; Kearney, Seamus; Kumar, Kishore R.; Vucic, Steve; Kennerson, Marina; Reilly, Mary M.; Houlden, Henry; Deveson, Ira; Tucci, Arianna; Taroni, Franco; Cortese, Andrea
Comprehensive genetic diagnosis of tandem repeat expansion disorders with programmable targeted nanopore sequencing
SCIENCE ADVANCES
IF12.5
2022-03-0492
OAAI
Stevanovski, Igor; Chintalaphani, Sanjog R.; Gamaarachchi, Hasindu; Ferguson, James M.; Pineda, Sandy S.; Scriba, Carolin K.; Tchan, Michel; Fung, Victor; Ng, Karl; Cortese, Andrea; Houlden, Henry; Dobson-Stone, Carol; Fitzpatrick, Lauren; Halliday, Glenda; Ravenscroft, Gianina; Davis, Mark R.; Laing, Nigel G.; Fellner, Avi; Kennerson, Marina; Kumar, Kishore R.; Deveson, Ira W.
Evaluating the analytical validity of circulating tumor DNA sequencing assays for precision oncology
NATURE BIOTECHNOLOGY
IF41.7
2021-04-12141
OAAI
Deveson, Ira W.; Gong, Binsheng; Lai, Kevin; LoCoco, Jennifer S.; Richmond, Todd A.; Schageman, Jeoffrey; Zhang, Zhihong; Novoradovskaya, Natalia; Willey, James C.; Jones, Wendell; Kusko, Rebecca; Chen, Guangchun; Madala, Bindu Swapna; Blackburn, James; Stevanovski, Igor; Bhandari, Ambica; Close, Devin; Conroy, Jeffrey; Hubank, Michael; Marella, Narasimha; Mieczkowski, Piotr A.; Qiu, Fujun; Sebra, Robert; Stetson, Daniel; Sun, Lihyun; Szankasi, Philippe; Tan, Haowen; Tang, Lin-ya; Arib, Hanane; Best, Hunter; Burgher, Blake; Bushel, Pierre R.; Casey, Fergal; Cawley, Simon; Chang, Chia-Jung; Choi, Jonathan; Dinis, Jorge; Duncan, Daniel; Eterovic, Agda Karina; Feng, Liang; Ghosal, Abhisek; Giorda, Kristina; Glenn, Sean; Happe, Scott; Haseley, Nathan; Horvath, Kyle; Hung, Li-Yuan; Jarosz, Mirna; Kushwaha, Garima; Li, Dan; Li, Quan-Zhen; Li, Zhiguang; Liu, Liang-Chun; Liu, Zhichao; Ma, Charles; Mason, Christopher E.; Megherbi, Dalila B.; Morrison, Tom; Pabon-Pena, Carlos; Pirooznia, Mehdi; Proszek, Paula Z.; Raymond, Amelia; Rindler, Paul; Ringler, Rebecca; Scherer, Andreas; Shaknovich, Rita; Shi, Tieliu; Smith, Melissa; Song, Ping; Strahl, Maya; Thodima, Venkat J.; Tom, Nikola; Verma, Suman; Wang, Jiashi; Wu, Leihong; Xiao, Wenzhong; Xu, Chang; Yang, Mary; Zhang, Guangliang; Zhang, Sa; Zhang, Yilin; Shi, Leming; Tong, Weida; Johann, Donald J., Jr.; Mercer, Timothy R.; Xu, Joshua

研究方向

暂未获取到该数据
I
Ira W. Deveson
H 指数:31论文数:161被引数:4,360
H
Hasindu Gamaarachchi
H 指数:18论文数:95被引数:1,501
S
Sanjog R. Chintalaphani
H 指数:8论文数:18被引数:567
G
Gianina Ravenscroft
H 指数:43论文数:269被引数:5,787
M
Marina Kennerson
H 指数:35论文数:171被引数:5,318
K
Kishore R. Kumar
H 指数:35论文数:248被引数:4,861
N
Nigel G. Laing
H 指数:80论文数:1,233被引数:2.8万
C
Carolin K. Scriba
H 指数:8论文数:27被引数:675
A
Andrea Cortese
H 指数:42论文数:220被引数:6,402
J
Jillian M. Hammond
H 指数:11论文数:42被引数:746