Birgitte R. Diness

Copenhagen, Denmark

Last Updated: 09/26/2026

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Found 37 publications

Diagnostic yield of whole exome sequencing in a cohort of 825 patients.

Diagnostic yield of whole exome sequencing in a cohort of 825 patients.

Journal: European journal of medical genetics

Published: April 30, 2025

Novel germline TP53 variant (p.(Phe109Ile)) confers high risk of cancer.

Novel germline TP53 variant (p.(Phe109Ile)) confers high risk of cancer.

Journal: Journal of medical genetics

Published: July 18, 2024

Reclassification of an FBN1 variant emphasizes the importance of segregation analysis, information sharing, and multidisciplinary teamwork in understanding genetic variants in health and disease.

Reclassification of an FBN1 variant emphasizes the importance of segregation analysis, information sharing, and multidisciplinary teamwork in understanding genetic variants in health and disease.

Journal: American journal of medical genetics. Part A

Published: January 18, 2024

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

Variant characterisation and clinical profile in a large cohort of patients with Ellis-van Creveld syndrome and a family with Weyers acrofacial dysostosis.

Variant characterisation and clinical profile in a large cohort of patients with Ellis-van Creveld syndrome and a family with Weyers acrofacial dysostosis.

Journal: Journal of medical genetics

Published: July 28, 2023

Actionability and familial uptake following opportunistic genomic screening in a pediatric cancer cohort.

Actionability and familial uptake following opportunistic genomic screening in a pediatric cancer cohort.

Journal: European journal of human genetics : EJHG

Published: July 04, 2023

Aortic dissection in a young male with persistent ductus arteriosus and a novel variant in MYLK.

Aortic dissection in a young male with persistent ductus arteriosus and a novel variant in MYLK.

Journal: American journal of medical genetics. Part A

Published: June 28, 2023

Carriers of COL3A1 pathogenic variants in Denmark: Interfamilial variability in severity and outcome of elective surgical procedures.

Carriers of COL3A1 pathogenic variants in Denmark: Interfamilial variability in severity and outcome of elective surgical procedures.

Journal: Clinical genetics

Published: February 27, 2022

Early diagnosis enabling precision medicine treatment in a young boy with PIK3R1-related overgrowth.

Early diagnosis enabling precision medicine treatment in a young boy with PIK3R1-related overgrowth.

Journal: European journal of medical genetics

Published: January 02, 2022

Novel LOX Variants in Five Families with Aortic/Arterial Aneurysm and Dissection with Variable Connective Tissue Findings.

Novel LOX Variants in Five Families with Aortic/Arterial Aneurysm and Dissection with Variable Connective Tissue Findings.

Journal: International journal of molecular sciences

Published: June 04, 2021

Genetic screening of prospective parents

Genetic screening of prospective parents

Journal: Ugeskrift for laeger

Published: April 08, 2021

Genetic screening of adopted individuals

Genetic screening of adopted individuals

Journal: Ugeskrift for laeger

Published: April 08, 2021

Showing 1-12 of 37

Last Updated: 09/26/2026