Isabel Spier
5PUBLICATIONS
24CO-AUTHORS
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Publications (5)
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|Apr 03, 2025
Long-read genome and RNA sequencing resolve a pathogenic intronic germline LINE-1 insertion in APC.Alexandra A Baumann, Lisanne I Knol, Marie Arlt
|Jun 15, 2023
Ability of a polygenic risk score to refine colorectal cancer risk in Lynch syndrome.Nuria Dueñas, Hannah Klinkhammer, Nuria Bonifaci
|Oct 21, 2022
Germline mutations in WNK2 could be associated with serrated polyposis syndrome.Yasmin Soares de Lima, Coral Arnau-Collell, Jenifer Muñoz
|Aug 03, 2019
Male infant with paternal uniparental diploidy mosaicism and a 46,XX/46,XY karyotype.Isabel Spier, Hartmut Engels, Sonja Stutte
|Jan 26, 2019
Diagnostic yield and clinical utility of a comprehensive gene panel for hereditary tumor syndromes.Jonas Henn, Isabel Spier, Ronja S Adam
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Frequent Collaborators
2 joint publications
Stefan Aretz
1 joint publications
Thomas Eggermann
1 joint publications
Richarda de Voer
1 joint publications
Daniel D Buchanan
1 joint publications
Sergi Castellvi-Bel
1 joint publications
Nuria Dueñas
1 joint publications
Hannah Klinkhammer
1 joint publications
Victor Moreno
1 joint publications
Marta Pineda
1 joint publications
Joan Brunet
