logo
科言猫学术研究的AI总结
language
手机端手机端
  • Phone Feature微信小程序
简体中文简体中文
notice消息通知
博客博客
arrow
G

Gianina Ravenscroft

University of Western Australia
H指数:43
被引数:5,681

个人简介

暂无内容

教育背景

暂无内容

工作经历

暂无内容

荣誉奖项

暂无内容

The hidden burden of structural variants in neurodegenerative and neuromuscular disorders

神经退行性疾病和神经肌肉疾病的结构性变异隐藏负担

Scientific Reports
IF3.9
2026-09-110
OAAI
Gavin Monahan; Carolin K. Scriba; Jasmine Chew; Jessica Baker; Christina Vo; Chiara Folland; Jevin Parmar; Samantha Bryen; Lein Dofash; Shelby Mullin; Audrey V. Rick; Elyshia McNamara; Joseph Donnelly; Tanavi Sharma; Daniella H. Hock; Tegan Stait; Matthew J. Welland; David R. Thorburn; Harry Fraser; Miriam Rodrigues; Nikki Gelfand; Mark Davis; Rebecca Gooding; Michael Farrell; Catherine Kiraly-Borri; Twinkle Ghia; Richard Warne; Carolyn F. Orr; David A. Stroud; Wai Yan Yau; Anita Cairns; Catriona McLean; Michael Fahey; Richard Roxburgh; Phillipa J. Lamont; Gianina Ravenscroft
A comprehensive framework for the interpretation of TTN missense variants

TTN错义变异的全面解读框架

Genome Medicine
IF11.2
2026-02-260
OAAI
Maria Francesca Di Feo; Martin Rees; Victoria Lillback; Ay Lin Kho; Angelina Meybatova; Mark Holt; Heinz Jungbluth; Francesco Muntoni; Giovanni Baranello; Anna Sarkozy; Chiara Fiorillo; Serena Baratto; Claudio Bruno; Monica Traverso; Michele Iacomino; Marina Pedemonte; Noemi Brolatti; Francesca Faravelli; Federico Zara; G. M. Luana Mandarà; Alan H. Beggs; Casie A. Genetti; Pamela Barraza-Flores; Carmelo Rodolico; Sonia Messina; Franziska Schnabel; Istvan Balogh; Katalin Szakszon; Siiri Sarv; Katrin Õunap; Federica Silvia Ricci; Alessandro Mussa; Edoardo Malfatti; Enrico Silvio Bertini; Adele D’Amico; Daria Diodato; Michela Catteruccia; Gianina Ravenscroft; Mridul Johari; Sergei A. Kurbatov; Polina Chausova; Aysylu Murtazina; Anna Kuchina; Olga Shchagina; Minas Drakos; Martha Spilioti; Athanasios E. Evangeliou; Ioannis Zaganas; Huahua Zhong; Sushan Luo; Luciano Merlini; Cam-Tu-Emilie Nguyen; Giorgio Tasca; Tara Reeves; Stellan Mörner; Olof Danielsson; Bjarne Udd; Mathias Gautel; Marco Savarese
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
Congenital Titinopathy: Comprehensive Characterization of the Most Severe End of the Disease Spectrum
ANNALS OF NEUROLOGY
IF7.7
2025-01-240
OAAI
Coppens, Sandra; Deconinck, Nicolas; Sullivan, Patricia; Smolnikov, Andrei; Clayton, Joshua S.; Griffin, Kaitlyn R.; Jones, Kristi J.; Vilain, Catheline N.; Kadhim, Hazim; Bryen, Samantha J.; Faiz, Fathimath; Waddell, Leigh B.; Evesson, Frances J.; Bakshi, Madhura; Pinner, Jason R.; Charlton, Amanda; Brammah, Susan; Graf, Nicole S.; Krivanek, Michael; Tay, Chee Geap; Foulds, Nicola C.; Illingworth, Marjorie A.; Thomas, Neil H.; Ellard, Sian; Mazanti, Ingrid; Park, Soo-Mi; French, Courtney E.; Brewster, Jennifer; Belteki, Gusztav; Hoodbhoy, Shazia; Allinson, Kieren; Krishnakumar, Deepa; Baynam, Gareth; Wood, Bradley M.; Ward, Michelle; Vijayakumar, Kayal; Syed, Amber; Murugan, Archana; Majumdar, Anirban; Scurr, Ingrid J.; Splitt, Miranda P.; Moldovan, Corina; de Silva, Deepthi C.; Senanayake, Kumudu; Gardeitchik, Thatjana; Arens, Yvonne; Cooper, Sandra T.; Laing, Nigel G.; Raymond, F. Lucy; Jungbluth, Heinz; Kamsteeg, Erik-Jan; Manzur, Adnan; Corley, Susan M.; Ravenscroft, Gianina; Wilkins, Marc R.; Cowley, Mark J.; Pinese, Mark; Phadke, Rahul; Davis, Mark R.; Muntoni, Francesco; Oates, Emily C.
Nerve ultrasound, neuronopathy and cough predict sensory neuropathy patients with RFC1 expansions

神经超声、神经元病变和咳嗽预测RFC1扩展的周围感觉神经病变患者

BRAIN COMMUNICATIONS
IF4.5
2025-01-011
OAAI
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
Autosomal recessive VWA1-related disorder: comprehensive analysis of phenotypic variability and genetic mutations
BRAIN COMMUNICATIONS
IF4.5
2024-10-280
OAAI
Nagy, Sara; Pagnamenta, Alistair T.; Cali, Elisa; Braakman, Hilde M. H.; Wijntjes, Juerd; Kusters, Benno; Gotkine, Marc; Elpeleg, Orly; Meiner, Vardiella; Lenberg, Jerica; Wigby, Kristen; Friedman, Jennifer; Perry, Luke D.; Rossor, Alexander M.; Meszarosova, Anna Uhrova; Thomasova, Dana; Jacob, Saiju; O'Driscoll, Mary; De Simone, Lenika; Grange, Dorothy K.; Sommerville, Richard; Firoozfar, Zahra; Alavi, Shahryar; Mazaheri, Mahta; Parmar, Jevin M.; Lamont, Phillipa J.; Pini, Veronica; Sarkozy, Anna; Muntoni, Francesco; Ravenscroft, Gianina; Jones, Eppie; O'Rourke, Declan; Nel, Melissa; Heckmann, Jeannine M.; Kvalsund, Michelle; Kapapa, Musambo M.; Somwe, Somwe Wa; Bearden, David R.; Cakar, Arman; Childs, Anne-Marie; Horvath, Rita; Reilly, Mary M.; Houlden, Henry; Maroofian, Reza
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.
Genome Sequencing for Diagnosing Rare Diseases
NEW ENGLAND JOURNAL OF MEDICINE
IF78.5
2024-06-0610
PRE
Wojcik, Monica H.; Lemire, Gabrielle; Berger, Eva; Zaki, Maha S.; Wissmann, Mariel; Win, Wathone; White, Susan M.; Weisburd, Ben; Wieczorek, Dagmar; Waddell, Leigh B.; Verboon, Jeffrey M.; VanNoy, Grace E.; Toepf, Ana; Tan, Tiong Yang; Syrbe, Steffen; Strehlow, Vincent; Straub, Volker; Stenton, Sarah L.; Snow, Hana; Singer-Berk, Moriel; Silver, Josh; Shril, Shirlee; Seaby, Eleanor G.; Schneider, Ronen; Sankaran, Vijay G.; Sanchis-Juan, Alba; Russell, Kathryn A.; Reinson, Karit; Ravenscroft, Gianina; Radtke, Maximilian; Popp, Denny; Polster, Tilman; Platzer, Konrad; Pierce, Eric A.; Place, Emily M.; Pajusalu, Sander; Pais, Lynn; Ounap, Katrin; Osei-Owusu, Ikeoluwa; Opperman, Henry; Okur, Volkan; Oja, Kaisa Teele; O'Leary, Melanie; O'Heir, Emily; Morel, Chantal F.; Merkenschlager, Andreas; Marchant, Rhett G.; Mangilog, Brian E.; Madden, Jill A.; MacArthur, Daniel; Lovgren, Alysia; Lerner-Ellis, Jordan P.; Lin, Jasmine; Laing, Nigel; Hildebrandt, Friedhelm; Hentschel, Julia; Groopman, Emily; Goodrich, Julia; Gleeson, Joseph G.; Ghaoui, Roula; Genetti, Casie A.; Gburek-Augustat, Janina; Gazda, Hanna T.; Ganesh, Vijay S.; Ganapathi, Mythily; Gallacher, Lyndon; Fu, Jack M.; Evangelista, Emily; England, Eleina; Donkervoort, Sandra; DiTroia, Stephanie; Cooper, Sandra T.; Chung, Wendy K.; Christodoulou, John; Chao, Katherine R.; Cato, Liam D.; Bujakowska, Kinga M.; Bryen, Samantha J.; Brand, Harrison; Boennemann, Carsten G.; Beggs, Alan H.; Baxter, Samantha M.; Bartolomaeus, Tobias; Agrawal, Pankaj B.; Talkowski, Michael; Austin-Tse, Christina; Abou Jamra, Rami; Rehm, Heidi L.; O'Donnell-Luria, Anne

研究方向

暂未获取到该数据
N
Nigel G. Laing
H 指数:80论文数:1,233被引数:2.8万
M
Mark R. Davis
H 指数:52论文数:213被引数:1.0万
P
Phillipa J. Lamont
H 指数:31论文数:127被引数:4,246
H
Henry Houlden
H 指数:120论文数:1,507被引数:6.4万
E
Elyshia McNamara
H 指数:14论文数:49被引数:778
C
Carolin K. Scriba
H 指数:8论文数:27被引数:640
M
Macarena Cabrera‐Serrano
H 指数:19论文数:78被引数:1,174
C
Chiara Folland
H 指数:7论文数:30被引数:245
K
Kathryn N. North
H 指数:98论文数:622被引数:3.1万
N
Nigel F. Clarke
H 指数:44论文数:193被引数:6,824