基本信息
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Bio
I am a Postdoctoral Researcher at Harry Perkins Institute of Medical Research, University of Western Australia, working in the field of Molecular Genetics of Neuromuscular disorders.
Research Interests
Papers共 82 篇Author StatisticsCo-AuthorSimilar Experts
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Ali Oghabian,Per Harald Jonson, Swethaa Natraj Gayathri,Mridul Johari, Ella Nippala,David Gomez Andres, Francina Munell, Jessica Camacho Soriano, Maria Angeles Sanchez Duran, Juha Sinisalo,Heli Tolppanen,Johanna Tolva,Peter Hackman,Marco Savarese,Bjarne Udd
Skeletal Muscleno. 1 (2025): 1-8
Steven Laurie,Wouter Steyaert,Elke de Boer,Kiran Polavarapu,Nika Schuermans,Anna K. Sommer,German Demidov,Kornelia Ellwanger,Ida Paramonov,Coline Thomas,Stefan Aretz,Jonathan Baets,Elisa Benetti,Gemma Bullich,Patrick F. Chinnery,Jill Clayton-Smith,Enzo Cohen,Daniel Danis,Jean-Madeleine de Sainte Agathe,Anne-Sophie Denommé-Pichon,Jordi Diaz-Manera,Stephanie Efthymiou,Laurence Faivre,Marcos Fernandez-Callejo, Mallory Freeberg,José Garcia-Pelaez,Lena Guillot-Noel,Tobias B. Haack, Mike Hanna,Holger Hengel,Rita Horvath,Henry Houlden,Adam Jackson,Lennart Johansson,Mridul Johari,Erik-Jan Kamsteeg,Melanie Kellner,Tjitske Kleefstra,Didier Lacombe,Hanns Lochmüller,Estrella López-Martín,Alfons Macaya,Anna Marcé-Grau,Aleš Maver,Heba Morsy,Francesco Muntoni,Francesco Musacchia,Isabelle Nelson,Vincenzo Nigro,Catarina Olimpio,Carla Oliveira,Jaroslava Paulasová Schwabová,Martje G. Pauly,Borut Peterlin,Sophia Peters,Rolph Pfundt,Giulio Piluso,Davide Piscia,Manuel Posada,Selina Reich,Alessandra Renieri,Lukas Ryba,Karolis Šablauskas,Marco Savarese,Ludger Schöls,Leon Schütz,Verena Steinke-Lange,Giovanni Stevanin,Volker Straub,Marc Sturm,Morris A. Swertz,Marco Tartaglia,Iris B. A. W. te Paske,Rachel Thompson,Annalaura Torella,Christina Trainor,Bjarne Udd,Liedewei Van de Vondel,Bart van de Warrenburg,Jeroen van Reeuwijk,Jana Vandrovcova,Antonio Vitobello,Janet Vos,Emílie Vyhnálková,Robin Wijngaard,Carlo Wilke,Doreen William,Jishu Xu,Burcu Yaldiz, Luca Zalatnai,Birte Zurek,Anthony J. Brookes,Teresinha Evangelista,Christian Gilissen,Holm Graessner,Nicoline Hoogerbrugge,Stephan Ossowski,Olaf Riess,Rebecca Schüle,Matthis Synofzik,Alain Verloes,Leslie Matalonga,Han G. Brunner,Katja Lohmann,Richarda M. de Voer,Ana Töpf,Lisenka E.L.M. Vissers,Sergi Beltran,Alexander Hoischen
Nature Medicinepp.1-12, (2025)
Journal of medical geneticsno. 5 (2025): 350-357
Massimo Ganassi,Claudia Strafella,Marco Savarese,Philipp Heher,Elise N Engquist, Liam McGuire,Mridul Johari, Gian F DeNicola,Anne Bigot,Vincent Mouly,Sara Bortolani, Eleonora Torchia,Mauro Monforte,Domenica Megalizzi, Andrea Sabino, Enzo Ricci,Emiliano Giardina, Peter S Zammit,Giorgio Tasca
medrxiv(2025)
Jonathan De Winter,Liedewei Van de Vondel, Biljana Ermanoska, Alice Monticelli,Arnaud Isapof,Enzo Cohen,Tanya Stojkovic,Peter Hackman,Mridul Johari,Johanna Palmio,Megan A Waldrop,Alayne P Meyer,Stefan Nicolau,Kevin M Flanigan,Ana Töpf,Jordi Diaz-Manera,Volker Straub,Cheryl Longman, Catherine A McWilliam,Rotem Orbach,Sumit Verma, Regina Laine,Sandra Donkervoort,Carsten G Bonnemann,Adriana Rebelo,Stephan Züchner,Tiffany Grider,Michael E Shy,Isabelle Maystadt,Florence Demurger,Anita Cairns, Sarah Beecroft,Chiara Folland, Willem De Ridder,Gina Ravenscroft,Gisèle Bonne,Bjarne Udd,Jonathan Baets
Orphanet Journal of Rare Diseasesno. 1 (2025): 1-10
Aurelien Perrin,Corinne Metay,Marco Savarese,Rabah Ben Yaou,German Demidov,Isabelle Nelson,Guilhem Sole,Yann Pereon,Enrico Silvio Bertini,Fabiana Fattori,Adele D'Amico,Federica Ricci,Mira Ginsberg,Andreea Seferian,Odile Boespflug-Tanguy,Laurent Servais,Francoise Chapon,Emmeline Lagrange,Karen Gaudon, Adrien Bloch, Robin Ghanem,Lucie Guyant-Marechal,Mridul Johari,Charles Van Goethem,Michel Fardeau,Raul Juntas Morales,Casie A. Genetti,Minttu Marttila,Michel Koenig,Alan Beggs,Bjarne Udd,Gisele Bonne,Mireille Cossee
JOURNAL OF MEDICAL GENETICSno. 4 (2024): 369-377
Jonathan De Winter,Liedewei Van de Vondel,Biljana Ermanoska, Alice Monticelli,Arnaud Isapof,Enzo Cohen,Tanya Stojkovic,Peter Hackman,Mridul Johari,Johanna Palmio,Megan A Waldrop,Alayne P Meyer,Stefan Nicolau,Kevin M Flanigan,Ana Töpf, Jordi Diaz-Manera,Volker Straub,Cheryl Longman,Catherine A McWilliam,Rotem Orbach,Sumit Verma, Regina Laine,Sandra Donkervoort,Carsten G Bonnemann,Adriana Rebelo,Stephan Züchner,Tiffany Grider,Michael E Shy,Isabelle Maystadt,Florence Demurger,Anita Cairns,Sarah Beecroft,Chiara Folland,Willem De Ridder,Gina Ravenscroft,Gisèle Bonne,Bjarne Udd,Jonathan Baets
HUMAN MUTATION (2024)
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Author Statistics
#Papers: 82
#Citation: 441
H-Index: 12
G-Index: 20
Sociability: 7
Diversity: 2
Activity: 24
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