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Papers共 93 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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Key Lessons from the First International Treatment Eligibility Committee: the Case of Metachromatic Leukodystrophy
Daphne H Schoenmakers, Marije A B C Asbreuk, Tamara Martin, Mareen Datema,Shanice Beerepoot, Michal Inbar-Feigenberg, Samuel Groeschel,Christiane Kehrer, Andreas Øberg,Caroline Sevin,Francesca Fumagalli, Caroline G Bergner, Päivi Vieira,Annette Bley, Johanna Uusimaa, Morten Andreas Horn, Klára Brožová, Eva Stögmann, Herbert Pichler, Roswitha Lüftinger,Erik A Eklund,Fanny Mochel, Laura A Adang, Lucia Laugwitz, Jaap Jan Boelens,Valeria Calbi, Alejandra Darling,Ángeles García-Cazorla, Sabine W Grønborg,Caroline A Lindemans,Peter M van Hasselt,Carla E M Hollak,Tom J de Koning, Dipak Ram, Hanka Dekker,Ludger Schöls, Ayelet Zerem,Holm Graessner,Nicole I Wolf
European journal of paediatric neurology EJPN official journal of the European Paediatric Neurology Society (2025): 72-81
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From Roadmap to a Sustainable End-to-end Individualized Therapy Pathway
Anneliene H Jonker, Elena-Alexandra Tataru, David P Dimmock, Alison Bateman-House,Holm Graessner,Gareth Baynam,Erika F Augustine, Adam Jaffe,Anna M G Pasmooij, Oxana Iliach, Richard Horgan, James Davies, Shruti Mitkus, Larissa Lapteva,Matthis Synofzik,Timothy W Yu,Daniel O'Connor, Annemieke Aartsma-Rus
Therapeutic advances in rare disease (2025): 26330040251339204-26330040251339204
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Author Statistics

#Papers: 94

#Citation: 881

H-Index: 16

G-Index: 28

Sociability: 7

Diversity: 2

Activity: 28

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