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Research Interests

Papers共 95 篇Author StatisticsCo-AuthorSimilar Experts

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Genomic Reanalysis of a Pan-European Rare-Disease Resource Yields New Diagnoses
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)
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Dominant Rhabdomyolysis Linked to a Recurrent ATP2A2 Variant Reducing SERCA2 Function in Muscle
Sivasankar Malaichamy, Romane Idoux,Kiran Polavarapu, Katarina Šikić, Elisa Holla,Rachel Thompson,Sally Spendiff,Anne Schänzer,Benno Kusters, Emily Freeman,Andreas Hentschel, Daniel O'Neil, Ricardo Carmona-Martinez, Vera Dobelmann, Calvin Tucht,Meyke Schouten, Tobias Ruck, Ulrike Schara-Schmidt, Erik-Jan Kamsteeg,Danijela Petković Ramadža, Antonia Jakovčević,Tamara Zigman,Mislav Čavka,Veronika Karcagi,Agnes Herczegfalvi,Steven Laurie,Leslie Matalonga,Sergi Beltran,Rita Horvath, Nicol Voermans,Andreas Roos,Ivo Barić,Hanns Lochmüller
Brain a journal of neurology (2025)
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Author Statistics

#Papers: 95

#Citation: 1289

H-Index: 16

G-Index: 35

Sociability: 7

Diversity: 2

Activity: 14

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