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

Polyglycine-mediated aggregation of FAM98B disrupts tRNA processing in GGC repeat disorders

聚甘氨酸介导的FAM98B聚集会破坏GGC重复序列疾病中的tRNA加工。

Yang, Jason; Xu, Yunhan; Ziehr, David R; Taylor, Martin S; Valenstein, Max L; Frenkel, Evgeni M; Bush, Jack R; Rutter, Kate; Stevanovski, Igor; Shi, Charlie Y; Kesavan, Maheswaran; Pinto, Ricardo Mouro; Deveson, Ira; Bartel, David P; Sabatini, David M; Chivukula, Raghu R

Targeted sequencing and iterative assembly of near-complete genomes

靶向测序和近乎完整基因组的迭代组装

Gamaarachchi, Hasindu; Stevanovski, Igor; Hammond, Jillian M; M Reis, Andre L; Rapadas, Melissa; Jayasooriya, Kavindu; Russell, Tonia; Yeow, Dennis; Hort, Yvonne; Patel, Chirag; Mallett, Andrew J; Stackpoole, Elaine; Roman, Lauren; Silver, Luke W; Hogg, Carolyn J; Streeting, Louise M; Bogdanovic, Ozren; Coelho Rodrigues Noronha, Renata; Santos do Nascimento, Luís Adriano; Lima Cardoso, Adauto; Georges, Arthur; Cheng, Haoyu; Patel, Hardip R; Kumar, Kishore Raj; Mallawaarachchi, Amali C; Deveson, Ira W

Targeted Long-Read Sequencing as a Single Assay Improves the Diagnosis of Spastic-Ataxia Disorders

靶向长读长测序作为单一检测方法可提高痉挛性共济失调疾病的诊断率

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

Repeat Expansions in PLIN4 Cause Autosomal Dominant Vacuolar Myopathy With Sarcolemmal Features

PLIN4基因重复扩增导致常染色体显性遗传性空泡性肌病伴肌膜特征

Llansó, Laura; Stevanovski, Igor; Morís, Germán; Collet-Vidiella, Roger; Segarra-Casas, Alba; González-Quereda, Lidia; Rodríguez-Santiago, Benjamín; Gallano, Pia; Alvarez, Rodrigo; Vesperinas, Ana; Blanco, Rosa; San-Millán, Beatriz; Navarro, Carmen; Illa, Isabel; Ravenscroft, Gianina; Deveson, Ira W; Gallardo, Eduard; Olivé, Montse

A common flanking variant is associated with enhanced stability of the FGF14-SCA27B repeat locus.

常见的侧翼变异与 FGF14-SCA27B 重复基因座的稳定性增强有关

Pellerin David, Del Gobbo Giulia F, Couse Madeline, Dolzhenko Egor, Nageshwaran Sathiji K, Cheung Warren A, Xu Isaac R L, Dicaire Marie-Josée, Spurdens Guinevere, Matos-Rodrigues Gabriel, Stevanovski Igor, Scriba Carolin K, Rebelo Adriana, Roth Virginie, Wandzel Marion, Bonnet Céline, 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 universal molecular control for DNA, mRNA and protein expression

DNA、mRNA和蛋白质表达的通用分子调控机制

Gunter, Helen M; Youlten, Scott E; Reis, Andre L M; McCubbin, Tim; Madala, Bindu Swapna; Wong, Ted; Stevanovski, Igor; Cipponi, Arcadi; Deveson, Ira W; Santini, Nadia S; Kummerfeld, Sarah; Croucher, Peter I; Marcellin, Esteban; Mercer, Tim R

Author Correction: A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry

作者更正:ABCD3基因中的CCG扩增会导致欧洲血统个体出现眼咽远端肌病。

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

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的基因组、表观遗传特征、长读长测序和卫生经济学分析

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; Adès, Lesley C; Mowat, David; Regan, Matthew; McGillivray, George; Savarirayan, Ravi; White, Susan M; Tan, Tiong Yang; Stark, Zornitza; Brown, Natasha J; Pérez-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

An Inversion Affecting the GCH1 Gene as a Novel Finding in Dopa-Responsive Dystonia

GCH1基因倒位是多巴反应性肌张力障碍的一项新发现

El-Wahsh, Shadi; Fellner, Avi; Hobbs, Matthew; Copty, Joe; Deveson, Ira; Stevanovski, Igor; Stoll, Marion; Zhu, Danqing; Narayanan, Ramesh K; Grosz, Bianca; Worgan, Lisa; Cheong, Pak Leng; Yeow, Dennis; Rudaks, Laura; Hasan, Md Mehedi; Hayes, Vanessa M; Kennerson, Marina; Kumar, Kishore R; Hayes, Michael

Normal and pathogenic variation of RFC1 repeat expansions: implications for clinical diagnosis

RFC1重复序列扩增的正常变异和致病变异:对临床诊断的意义

Dominik, Natalia; Magri, Stefania; Currò, 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