Susanne E. Boonen

Odense, Denmark

Last Updated: 09/26/2026

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Found 26 publications

Variants in the Imprinted IGF2 Gene: A Review and Phasing of De Novo Variants Using Long-Read Sequencing.

Variants in the Imprinted IGF2 Gene: A Review and Phasing of De Novo Variants Using Long-Read Sequencing.

Journal: Clinical genetics

Published: January 28, 2026

Classification of Gene Variants in a Danish Population with Suspected Predisposition to Hereditary Breast and/or Ovarian Cancer.

Classification of Gene Variants in a Danish Population with Suspected Predisposition to Hereditary Breast and/or Ovarian Cancer.

Journal: Cancers

Published: April 02, 2025

Preliminary evaluation of ShallowHRD performance compared to HRDetect in familial breast cancer tumors.

Preliminary evaluation of ShallowHRD performance compared to HRDetect in familial breast cancer tumors.

Journal: Scientific reports

Published: January 17, 2025

The European Certificate in Medical Genetics and Genomics (ECMGG).

The European Certificate in Medical Genetics and Genomics (ECMGG).

Journal: European journal of human genetics : EJHG

Published: December 31, 2024

Reclassification of Two MLH1 Variants of Uncertain Significance Utilizing Clinical and Functional Data.

Reclassification of Two MLH1 Variants of Uncertain Significance Utilizing Clinical and Functional Data.

Journal: Molecular genetics & genomic medicine

Published: June 17, 2024

Author Correction: Validation of the BOADICEA model for predicting the likelihood of carrying pathogenic variants in eight breast and ovarian cancer susceptibility genes.

Author Correction: Validation of the BOADICEA model for predicting the likelihood of carrying pathogenic variants in eight breast and ovarian cancer susceptibility genes.

Journal: Scientific reports

Published: September 15, 2023

National clinical Genetic Networks - GENets - Establishment of expert collaborations in Denmark.

National clinical Genetic Networks - GENets - Establishment of expert collaborations in Denmark.

Journal: European journal of medical genetics

Published: August 17, 2023

Male with an apparently normal phenotype carrying a BRCA1 exon 20 duplication in trans to a BRCA1 frameshift variant.

Male with an apparently normal phenotype carrying a BRCA1 exon 20 duplication in trans to a BRCA1 frameshift variant.

Journal: Breast cancer research : BCR

Published: June 27, 2023

Validation of the BOADICEA model for predicting the likelihood of carrying pathogenic variants in eight breast and ovarian cancer susceptibility genes.

Validation of the BOADICEA model for predicting the likelihood of carrying pathogenic variants in eight breast and ovarian cancer susceptibility genes.

Journal: Scientific reports

Published: November 01, 2022

Risks of breast and ovarian cancer for women harboring pathogenic missense variants in BRCA1 and BRCA2 compared with those harboring protein truncating variants.

Risks of breast and ovarian cancer for women harboring pathogenic missense variants in BRCA1 and BRCA2 compared with those harboring protein truncating variants.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: October 07, 2022

Germline pathogenic variants associated with ovarian cancer: A historical overview.

Germline pathogenic variants associated with ovarian cancer: A historical overview.

Journal: Gynecologic oncology reports

Published: September 20, 2022

Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers.

Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers.

Journal: Communications biology

Published: November 15, 2021

Showing 1-12 of 26

Last Updated: 09/26/2026