Katharina Keupp

Koeln, NW, Germany

Last Updated: 09/26/2026

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Found 14 publications

HerediCaRe: Documentation and IT Solution of a Specialized Registry for Hereditary Breast and Ovarian Cancer

HerediCaRe: Documentation and IT Solution of a Specialized Registry for Hereditary Breast and Ovarian Cancer

Journal: Gesundheitswesen (Bundesverband der Arzte des Offentlichen Gesundheitsdienstes (Germany))

Published: November 03, 2021

Biallelic germline BRCA1 mutations in a patient with early onset breast cancer, mild Fanconi anemia-like phenotype, and no chromosome fragility.

Biallelic germline BRCA1 mutations in a patient with early onset breast cancer, mild Fanconi anemia-like phenotype, and no chromosome fragility.

Journal: Molecular genetics & genomic medicine

Published: June 06, 2019

Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta.

Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta.

Journal: American journal of human genetics

Published: May 24, 2019

Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification.

Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification.

Journal: Human mutation

Published: January 30, 2019

Gene panel testing of 5589 BRCA1/2-negative index patients with breast cancer in a routine diagnostic setting: results of the German Consortium for Hereditary Breast and Ovarian Cancer.

Gene panel testing of 5589 BRCA1/2-negative index patients with breast cancer in a routine diagnostic setting: results of the German Consortium for Hereditary Breast and Ovarian Cancer.

Journal: Cancer medicine

Published: September 19, 2017

Non-small cell neuroendocrine carcinoma of the ovary in a BRCA2-germline mutation carrier: A case report and brief review of the literature.

Non-small cell neuroendocrine carcinoma of the ovary in a BRCA2-germline mutation carrier: A case report and brief review of the literature.

Journal: Oncology letters

Published: March 06, 2017

RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome.

RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome.

Journal: The Journal of clinical investigation

Published: November 20, 2014

The missing "link": an autosomal recessive short stature syndrome caused by a hypofunctional XYLT1 mutation.

The missing "link": an autosomal recessive short stature syndrome caused by a hypofunctional XYLT1 mutation.

Journal: Human genetics

Published: April 28, 2013

Mutations in the interleukin receptor IL11RA cause autosomal recessive Crouzon-like craniosynostosis.

Mutations in the interleukin receptor IL11RA cause autosomal recessive Crouzon-like craniosynostosis.

Journal: Molecular genetics & genomic medicine

Published: April 24, 2013

A hypofunctional PAX1 mutation causes autosomal recessively inherited otofaciocervical syndrome.

A hypofunctional PAX1 mutation causes autosomal recessively inherited otofaciocervical syndrome.

Journal: Human genetics

Published: April 17, 2013

Recessive TRAPPC11 mutations cause a disease spectrum of limb girdle muscular dystrophy and myopathy with movement disorder and intellectual disability.

Recessive TRAPPC11 mutations cause a disease spectrum of limb girdle muscular dystrophy and myopathy with movement disorder and intellectual disability.

Journal: American journal of human genetics

Published: March 19, 2013

Mutations in WNT1 cause different forms of bone fragility.

Mutations in WNT1 cause different forms of bone fragility.

Journal: American journal of human genetics

Published: January 23, 2013

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Last Updated: 09/26/2026