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

Detection of short tandem repeat expansions on a targeted neurological gene panel using STRipy improves the diagnostic rate for ataxias

利用STRipy检测靶向神经系统基因panel上的短串联重复序列扩增,可提高共济失调的诊断率。

Scriba, Carolin K; Folland, Chiara; Black, Michael; Baker, Jessica; Abromeit, Daniel; Saw, Samantha; Chiew, Mei-Ting; Gooding, Rebecca; Laing, Nigel G; Davis, Mark R; Ravenscroft, Gianina

Nerve ultrasound, neuronopathy and cough predict sensory neuropathy patients with RFC1 expansions

神经超声、神经病变和咳嗽可预测RFC1扩增患者的感觉神经病变

Garvey, Anthony; Melville, I Zay; Scriba, Carolin K; Yong, Vivien; Rodrigues, Miriam; Kao, Justin; Glenn, Melanie; Patel, Shilpan; Chang, Thomas; Caldwell, James; Ren, Caitlyn; Laing, Nigel G; Ravenscroft, Gianina; Pelosi, Luciana; Taylor, Rachael L; Roxburgh, Richard

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

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

Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia

晚发性小脑共济失调中FGF14 GAA重复序列深部内含子扩增

Pellerin, David; Danzi, Matt C; Wilke, Carlo; Renaud, Mathilde; Fazal, Sarah; Dicaire, Marie-Josée; Scriba, Carolin K; Ashton, Catherine; Yanick, Christopher; Beijer, Danique; Rebelo, Adriana; Rocca, Clarissa; Jaunmuktane, Zane; Sonnen, Joshua A; Larivière, Roxanne; Genís, David; Molina Porcel, Laura; Choquet, Karine; Sakalla, Rawan; Provost, Sylvie; Robertson, Rebecca; Allard-Chamard, Xavier; Tétreault, Martine; Reiling, Sarah J; Nagy, Sara; Nishadham, Vikas; Purushottam, Meera; Vengalil, Seena; Bardhan, Mainak; Nalini, Atchayaram; Chen, Zhongbo; Mathieu, Jean; Massie, Rami; Chalk, Colin H; Lafontaine, Anne-Louise; Evoy, François; Rioux, Marie-France; Ragoussis, Jiannis; Boycott, Kym M; Dubé, Marie-Pierre; Duquette, Antoine; Houlden, Henry; Ravenscroft, Gianina; Laing, Nigel G; Lamont, Phillipa J; Saporta, Mario A; Schüle, Rebecca; Schöls, Ludger; La Piana, Roberta; Synofzik, Matthis; Zuchner, Stephan; Brais, Bernard

RFC1 in an Australasian neurological disease cohort: extending the genetic heterogeneity and implications for diagnostics

澳大利亚和新西兰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

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

Comprehensive genetic diagnosis of tandem repeat expansion disorders with programmable targeted nanopore sequencing

利用可编程靶向纳米孔测序技术对串联重复序列扩增疾病进行全面的基因诊断

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

A novel RFC1 repeat motif (ACAGG) in two Asia-Pacific CANVAS families

亚太地区两个 CANVAS 家族中发现新的 RFC1 重复基序 (ACAGG)

Scriba, Carolin K; Beecroft, Sarah J; Clayton, Joshua S; Cortese, Andrea; Sullivan, Roisin; Yau, Wai Yan; Dominik, Natalia; Rodrigues, Miriam; Walker, Elizabeth; Dyer, Zoe; Wu, Teddy Y; Davis, Mark R; Chandler, David C; Weisburd, Ben; Houlden, Henry; Reilly, Mary M; Laing, Nigel G; Lamont, Phillipa J; Roxburgh, Richard H; Ravenscroft, Gianina