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S

Sanjog R. Chintalaphani

Garvan Institute of Medical Research
H指数:8
被引数:567

个人简介

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荣誉奖项

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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
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
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.

研究方向

暂未获取到该数据
I
Igor Stevanovski
H 指数:15论文数:48被引数:1,258
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
C
Carolin K. Scriba
H 指数:8论文数:27被引数:675
M
Marina Kennerson
H 指数:35论文数:171被引数:5,318
M
Mark R. Davis
H 指数:52论文数:213被引数:1.0万
A
Andrea Cortese
H 指数:42论文数:220被引数:6,406
N
Nigel G. Laing
H 指数:80论文数:1,233被引数:2.8万
G
Gianina Ravenscroft
H 指数:43论文数:269被引数:5,787
K
Kishore R. Kumar
H 指数:35论文数:248被引数:4,862