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I

Ira W. Deveson

Garvan Institute of Medical Research
H指数:31
被引数:4,352

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Tandem repeat variation shapes immune cell type-specific gene expression

串联重复变异塑造免疫细胞类型特异性基因表达

Nature
IF48.5
2026-10-280
PRE
Hope A. Tanudisastro; Anna S. E. Cuomo; Ben Weisburd; Matthew Welland; Eleanor Spenceley; Michael Franklin; Angli Xue; Hao Lawrence Huang; Blake Bowen; Jianan Fan; Oscar A. Dong; Albert Henry; Peter C. Allen; Kristof Wing; Owen Tang; Michael Gray; Andre L. M. Reis; Jonathan Margoliash; Nehir E. Kurtas; Jeffrey M. Pullin; Arthur S. Lee; Harrison Brand; Michael Harper; Katalina Bobowik; Michael Silk; Amy Miniter; John Marshall; Vivian Bakiris; Bindu Swapna Madala; Caitlin Uren; Caitlin Bartie; Rachael A. McCloy; Anne Senabouth; Harriet Dashnow; Liam Fearnley; Alejandro Martin-Trujillo; Egor Dolzhenko; Zhen Qiao; Stuart M. Grieve; Tung Nguyen; Eyal Ben-David; Ling Chen; Kyle Kai-How Farh; Michael E. Talkowski; Stephen I. Alexander; Owen M. Siggs; Leonhard Gruenschloss; Hannah R. Nicholas; Jennifer Piscionere; Cas Simons; Chris Wallace; Melissa Gymrek; Ira W. Deveson; Alex W. Hewitt; Gemma A. Figtree; Katrina M. de Lange; Joseph E. Powell; Daniel G. MacArthur
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
Between- and within-host mutation of dengue virus

登革病毒的群体间和群体内突变

Virology
IF3.8
2025-11-250
OAAI
Sachith Maduranga; Braulio Mark Valencia; Chathurani Sigera; Praveen Weeratunga; Deepika Fernando; Senaka Rajapakse; Melissa Rapadas; Ira W. Deveson; Andrew R. Lloyd; Rowena Bull; Chaturaka Rodrigo
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
Expanded T cell clones with lymphoma driver somatic mutations accumulate in refractory celiac disease

携带淋巴瘤驱动体细胞突变的扩展T细胞克隆在难治性乳糜泻中积累

SCIENCE TRANSLATIONAL MEDICINE
IF14.6
2025-05-140
PRE
Singh, Mandeep; Louie, Raymond H. Y.; Samir, Jerome; Field, Matthew A.; Milthorpe, Claire; Adikari, Thiruni; Mackie, Joseph; Roper, Ellise; Faulks, Megan; Jackson, Katherine J. L.; Calcino, Andrew; Hardy, Melinda Y.; Blombery, Piers; Amos, Timothy G.; Deveson, Ira W.; Wende, Helen Vander; Floor, Stephen N.; Read, Scott A.; Shek, Dmitri; Guerin, Antoine; Ma, Cindy S.; Tangye, Stuart G.; Lenti, Marco V.; Pasini, Alessandra; Ciccocioppo, Rachele; Ahlenstiel, Golo; Suan, Dan; Tye-Din, Jason A.; Goodnow, Christopher C.; Luciani, Fabio
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 near telomere-to-telomere phased genome assembly and annotation for the Australian central bearded dragon Pogona vitticeps

一个接近端粒到端粒的、具有相位的基因组组装和注释，针对澳大利亚中央鬃狮蜥 *Pogona vitticeps*

GIGASCIENCE
IF3.9
2025-01-011
OAAI
Patel, Hardip R.; Alreja, Kirat; Reis, Andre L. M.; Chang, J. King; Chew, Zahra A.; Jung, Hyungtaek; Hammond, Jillian M.; Deveson, Ira W.; Ruiz-Herrera, Aurora; Marin-Gual, Laia; Holleley, Clare E.; Zhang, Xiuwen; Lister, Nicholas C.; Whiteley, Sarah; Xiong, Lei; Dissanayake, Duminda S. B.; Waters, Paul D.; Georges, Arthur
Temporally resolved proteomics identifies nidogen-2 as a cotarget in pancreatic cancer that modulates fibrosis and therapy response

暂时分辨的蛋白质组学将nidogen-2鉴定为胰腺癌的共靶标，其调节纤维化和治疗反应

SCIENCE ADVANCES
IF12.5
2024-07-052
OAAI
Pereira, Brooke A.; Ritchie, Shona; Chambers, Cecilia R.; Gordon, Katie A.; Magenau, Astrid; Murphy, Kendelle J.; Nobis, Max; Tyma, Victoria M.; Liew, Ying Fei; Lucas, Morghan C.; Naeini, Marjan M.; Barkauskas, Deborah S.; Chacon-Fajardo, Diego; Howell, Anna E.; Parker, Amelia L.; Warren, Sean C.; Reed, Daniel A.; Lee, Victoria; Metcalf, Xanthe L.; Lee, Young Kyung; O'Regan, Luke P.; Zhu, Jessie; Trpceski, Michael; Fontaine, Angela R. M.; Stoehr, Janett; Rouet, Romain; Lin, Xufeng; Chitty, Jessica L.; Porazinski, Sean; Wu, Sunny Z.; Filipe, Elysse C.; Cadell, Antonia L.; Holliday, Holly; Yang, Jessica; Papanicolaou, Michael; Lyons, Ruth J.; Zaratzian, Anaiis; Tayao, Michael; Da Silva, Andrew; Vennin, Claire; Yin, Julia; Dew, Alysha B.; Mcmillan, Paul J.; Goldstein, Leonard D.; Deveson, Ira W.; Croucher, David R.; Samuel, Michael S.; Sim, Hao-Wen; Batten, Marcel; Chantrill, Lorraine; Grimmond, Sean M.; Gill, Anthony J.; Samra, Jaswinder; Evans, Thomas R. Jeffry; Sasaki, Takako; Phan, Tri G.; Swarbrick, Alexander; Sansom, Owen J.; Morton, Jennifer P.; Pajic, Marina; Parker, Benjamin L.; Herrmann, David; Cox, Thomas R.; Timpson, Paul
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
Harnessing single cell multi-omics data to identify predictors of clinical outcome in CD19 CAR T cell therapy

利用单细胞多组学数据确定CD19 CAR T细胞治疗中临床结果的预测因素

CANCER RESEARCH
IF16.6
2024-03-220
PRE
Louie, Raymond Y.; Samir, Jerome; Cai, Curtis; McGuire, Helen; Amos, Tim; Fergsuson, James; Deveson, Ira; Adikari, Thiruni; Bonomi, Martina; Bishop, David; Mason, Christopher E.; Balderas, Robert; Ruella, Marco; Singh, Mandeep; Gottlieb, David; Blyth, Emily; Micklethwaite, Ken; Luciani, Fabio

研究方向

暂未获取到该数据
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