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Research Interests

Papers共 60 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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Deep Phenotyping of Pathology-Confirmed Benign Lesions in PTEN Hamartoma Tumor Syndrome Patients
Ane J Schei-Andersen,Janneke H M Schuurs-Hoeijmakers, Rachel van der Post,Arjen R Mensenkamp, Jolanda Schieving, PTEN Study Group,Janet R Vos, Nicoline Hoogerbrugge
Clinical genetics (2025)
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The Risk of a Second Primary Cancer in PTEN Hamartoma Tumor Syndrome (PHTS)
Linda A J Hendricks, Katja C J Verbeek,Janneke H M Schuurs-Hoeijmakers, Mirjam M de Jong, Thera P Links,Hilde Brems, Mio Aerden,Joan Brunet, Roser Lleuger-Pujol, Robert Hüneburg,Stefan Aretz,Chrystelle Colas, Marie-Charlotte Villy,Emma R Woodward, D Gareth Evans,Daniëlle G M Bosch, Stephany H Donze,Lenka Foretová,Ana Blatnik, Edward M Leter,Marc Tischkowitz,Arne Jahn, Robin de Putter,Juliette Dupont, Siri Briskemyr,Verena Steinke-Lange, Margherita Baldassarri, Violetta C Anastasiadou,Arvīds Irmejs,Carla Oliveira,Rachel S van der Post,Arjen R Mensenkamp,Bianca Tesi, Ninni Mu,Patrick R Benusiglio, Anna Gerasimenko, Giovanni Innella,Daniela Turchetti,Claude Houdayer, Maud Branchaud,Hildegunn Høberg-Vetti, Marianne Tveit Haavind,Judith Balmaña, Maite Torres, Maurizio Genuardi, Arianna Panfili,Kjersti Jørgensen,Lovise Mæhle, Nicoline Hoogerbrugge,Janet R Vos
Genetics in medicine official journal of the American College of Medical Geneticspp.101467-101467, (2025)
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Cancer Prognosis and Treatment Results in Patients with PTEN Hamartoma Tumour Syndrome (Phts)-a European Cohort Study
Linda A J Hendricks, Katja C J Verbeek,Janneke H M Schuurs-Hoeijmakers, Robin de Putter,Hilde Brems, Sien H Van Daele, Violetta C Anastasiadou,Lenka Foretová,Patrick R Benusiglio, Anna Gerasimenko,Chrystelle Colas, Marie-Charlotte Villy,Claude Houdayer, Maud Branchaud, Robert Hüneburg,Stefan Aretz,Arne Jahn,Verena Steinke-Lange, Giovanni Innella,Daniela Turchetti,Valeria Barili, Maurizio Genuardi, Arianna Panfili, Margherita Baldassarri,Arvīds Irmejs, Mirjam M de Jong, Thera P Links, Edward M Leter,Daniëlle G M Bosch, Stephany H Donze,Rachel S van der Post,Arjen R Mensenkamp,Harm Westdorp,Hildegunn Høberg-Vetti, Marianne Tveit Haavind,Kjersti Jørgensen,Lovise Mæhle, Siri Briskemyr, Juliette Dupont Garcia,Ana Blatnik,Judith Balmaña, Maite Torres,Joan Brunet, Roser Lleuger-Pujol,Emma Tham,Marc Tischkowitz, D Gareth Evans, Zerin Hyder, Nicoline Hoogerbrugge,Janet R Vos
BJC reportsno. 1 (2025): 42-42
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Author Statistics

#Papers: 60

#Citation: 482

H-Index: 12

G-Index: 21

Sociability: 6

Diversity: 2

Activity: 18

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