Frederique Nowak

Paris, France

Last Updated: 09/26/2026

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Found 27 publications

Advancing the adoption of oncology decision support tools in Europe: insights from CAN.HEAL.

Advancing the adoption of oncology decision support tools in Europe: insights from CAN.HEAL.

Journal: Frontiers in digital health

Published: January 09, 2026

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.

Journal: medRxiv : the preprint server for health sciences

Published: September 15, 2025

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.

Journal: Nature genetics

Published: September 02, 2025

Genomic pathway managers: a novel role in the genomic medicine care pathway in France-overview and perspectives.

Genomic pathway managers: a novel role in the genomic medicine care pathway in France-overview and perspectives.

Journal: European journal of human genetics : EJHG

Published: March 19, 2025

A decalogue of Molecular Tumor Board (MTB) recommendations from the CAN.HEAL Consortium.

A decalogue of Molecular Tumor Board (MTB) recommendations from the CAN.HEAL Consortium.

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

Published: February 25, 2025

Genome sequencing for the diagnosis of intellectual disability as a paradigm for rare diseases in the French healthcare setting: the prospective DEFIDIAG study.

Genome sequencing for the diagnosis of intellectual disability as a paradigm for rare diseases in the French healthcare setting: the prospective DEFIDIAG study.

Journal: Genome medicine

Published: December 11, 2024

The evolution of health data ecosystems: An international survey.

The evolution of health data ecosystems: An international survey.

Journal: American journal of human genetics

Published: November 13, 2024

Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption.

Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption.

Journal: Nature genetics

Published: October 02, 2024

Towards more informed consent: Making information understandable

Towards more informed consent: Making information understandable

Journal: Medecine sciences : M/S

Published: September 11, 2023

Precision cancer medicine: Concepts, current practice, and future developments.

Precision cancer medicine: Concepts, current practice, and future developments.

Journal: Journal of internal medicine

Published: August 29, 2023

Long term activity of vemurafenib in cancers with BRAF mutations: the ACSE basket study for advanced cancers other than BRAFV600-mutated melanoma.

Long term activity of vemurafenib in cancers with BRAF mutations: the ACSE basket study for advanced cancers other than BRAFV600-mutated melanoma.

Journal: ESMO open

Published: August 09, 2023

Implementation of precision medicine in healthcare-A European perspective.

Implementation of precision medicine in healthcare-A European perspective.

Journal: Journal of internal medicine

Published: July 16, 2023

Showing 1-12 of 27

Last Updated: 09/26/2026