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Papers共 52 篇Author StatisticsCo-AuthorSimilar Experts

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Long-read Genome and RNA Sequencing Resolve a Pathogenic Intronic Germline LINE-1 Insertion in APC
Alexandra A Baumann, Lisanne I Knol, Marie Arlt, Tim Hutschenreiter, Anja Richter, Thomas J Widmann, Marcus Franke,Karl Hackmann, Sylke Winkler,Daniela Richter,Isabel Spier,Stefan Aretz,Daniela Aust,Joseph Porrmann,Doreen William,Evelin Schröck,Hanno Glimm,Arne Jahn
NPJ genomic medicineno. 1 (2025): 30-30
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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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Long-read genome sequencing and RNA sequencing resolve an intronic LINE-1 insertion in the APC gene in a so far unsolved adenomatous polyposis family
Alexandra A. Baumann, Lisanne Knol, Marie Arlt, Tim Hutschenreiter, Anja Richter, Marcus Franke,Doreen William,Karl Hackmann,Daniela Richter,Isabel Spier,Stefan Aretz,Hanno Glimm,Evelin Schroeck,Arne Jahn
EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 550-551
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An inherited PUF60 variant expands the genetic and phenotypic spectrum of the Verheij syndrome
Maria Constanza Roa Bravo, Andrea Kuebler,Karl Hackmann,Evelin Schroeck,Jens Schallner,Joseph Porrmann,Arne Jahn
EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 542-542
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Author Statistics

#Papers: 53

#Citation: 529

H-Index: 10

G-Index: 22

Sociability: 6

Diversity: 2

Activity: 27

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