Bernhard H. Weber

Franz Josef Strauss Allee 11
Regensburg, BY 93053, Germany

Last Updated: 09/26/2026

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Found 252 publications

Spectrum of double heterozygosity in individuals diagnosed with hereditary breast and ovarian cancer.

Spectrum of double heterozygosity in individuals diagnosed with hereditary breast and ovarian cancer.

Journal: European journal of cancer (Oxford, England : 1990)

Published: April 24, 2026

Patient-Reported Social Impact of Molecularly Confirmed Macular Dystrophies and Cone-Rod Dystrophies.

Patient-Reported Social Impact of Molecularly Confirmed Macular Dystrophies and Cone-Rod Dystrophies.

Journal: Journal of clinical medicine

Published: September 17, 2025

Allele-specific suppression of pathogenic bestrophin-1 transcripts by CRISPR/Cas9-mediated genome editing.

Allele-specific suppression of pathogenic bestrophin-1 transcripts by CRISPR/Cas9-mediated genome editing.

Journal: Genome medicine

Published: August 13, 2025

Bilateral Sector Macular Dystrophy Associated with PRPH2 Variant c.623G>A (p.Gly208Asp).

Bilateral Sector Macular Dystrophy Associated with PRPH2 Variant c.623G>A (p.Gly208Asp).

Journal: Journal of clinical medicine

Published: June 16, 2025

Patient-Reported Social Impact of Molecularly Confirmed Retinitis Pigmentosa.

Patient-Reported Social Impact of Molecularly Confirmed Retinitis Pigmentosa.

Journal: Journal of clinical medicine

Published: April 13, 2025

Genetics and diagnostics of inherited retinal diseases in the era of whole genome sequencing.

Genetics and diagnostics of inherited retinal diseases in the era of whole genome sequencing.

Journal: Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V

Published: February 18, 2025

Diagnostic testing in the genetically complex age-related macular degeneration.

Diagnostic testing in the genetically complex age-related macular degeneration.

Journal: Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V

Published: February 13, 2025

Focus on degenerative retinal disorders.

Focus on degenerative retinal disorders.

Journal: Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V

Published: February 13, 2025

20 Jahre universitäre Humangenetik in Regensburg.

20 Jahre universitäre Humangenetik in Regensburg.

Journal: Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V

Published: December 04, 2024

Childhood, adolescent, and young adulthood cancer risk in BRCA1 or BRCA2 pathogenic variant carriers.

Childhood, adolescent, and young adulthood cancer risk in BRCA1 or BRCA2 pathogenic variant carriers.

Journal: Journal of the National Cancer Institute

Published: August 05, 2024

Calculating Future 10-Year Breast Cancer Risks in Risk-Adapted Surveillance: A Method Comparison and Application in Clinical Practice.

Calculating Future 10-Year Breast Cancer Risks in Risk-Adapted Surveillance: A Method Comparison and Application in Clinical Practice.

Journal: Cancer prevention research (Philadelphia, Pa.)

Published: July 19, 2024

18-Years of single-centre DNA testing in over 7000 index cases with inherited retinal dystrophies and optic neuropathies.

18-Years of single-centre DNA testing in over 7000 index cases with inherited retinal dystrophies and optic neuropathies.

Journal: Scientific reports

Published: June 17, 2024

Showing 1-12 of 252

Last Updated: 09/26/2026