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Isabel Spier

5PUBLICATIONS

24CO-AUTHORS

Gene mappingPredictive and prognostic markersCancer geneticsNeonatology

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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 <i>WNK2</i> 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

Frequent Collaborators

2 joint publications

Stefan Aretz

1 joint publications

Thomas Eggermann

1 joint publications

Richarda de Voer

1 joint publications

Daniel D Buchanan

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