Vincent Strehlow

Leipzig, SN, Germany

Last Updated: 09/26/2026

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Found 33 publications

Gene Portals: A Framework for Integrating Clinical, Functional, and Structural Evidence into Rare Disease Variant Classification.

Gene Portals: A Framework for Integrating Clinical, Functional, and Structural Evidence into Rare Disease Variant Classification.

Journal: medRxiv : the preprint server for health sciences

Published: March 13, 2026

Gene Portals: A Framework for Integrating Clinical, Functional, and Structural Evidence into Rare Disease Variant Classification.

Gene Portals: A Framework for Integrating Clinical, Functional, and Structural Evidence into Rare Disease Variant Classification.

Journal: medRxiv : the preprint server for health sciences

Published: March 13, 2026

Case report: a rare BRCA1 de novo variant in a female with breast cancer.

Case report: a rare BRCA1 de novo variant in a female with breast cancer.

Journal: Hereditary cancer in clinical practice

Published: January 13, 2026

Correction: GRIN2A null variants confer a high risk for early-onset schizophrenia and other mental disorders and potentially enable precision therapy.

Correction: GRIN2A null variants confer a high risk for early-onset schizophrenia and other mental disorders and potentially enable precision therapy.

Journal: Molecular psychiatry

Published: January 07, 2026

Case Report: A combination of CHEK2 and high polygenic risk score leads to early-onset male breast cancer.

Case Report: A combination of CHEK2 and high polygenic risk score leads to early-onset male breast cancer.

Journal: Frontiers in oncology

Published: December 10, 2025

Crisis-like Seizure Exacerbations in NPRL3-related Epilepsy: Phenotypic Features and Treatment Outcomes.

Crisis-like Seizure Exacerbations in NPRL3-related Epilepsy: Phenotypic Features and Treatment Outcomes.

Journal: Neuropediatrics

Published: November 19, 2025

Corrigendum to CERT1 mutations perturb human development by disrupting sphingolipid homeostasis.

Corrigendum to CERT1 mutations perturb human development by disrupting sphingolipid homeostasis.

Journal: The Journal of clinical investigation

Published: November 03, 2025

PRS-BC313 integration for tailored breast cancer prevention in female patients and their healthy relatives.

PRS-BC313 integration for tailored breast cancer prevention in female patients and their healthy relatives.

Journal: Journal of medical genetics

Published: September 15, 2025

Author Correction: Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.

Author Correction: Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.

Journal: Nature genetics

Published: June 24, 2025

Assessment of 1863 GRIN2A Variants Contradicts a Role in Tumorigenesis.

Assessment of 1863 GRIN2A Variants Contradicts a Role in Tumorigenesis.

Journal: International journal of molecular sciences

Published: April 30, 2025

Identification and Characterization of a Rare Exon 22 Duplication in CFTR in Two Families.

Identification and Characterization of a Rare Exon 22 Duplication in CFTR in Two Families.

Journal: International journal of molecular sciences

Published: March 14, 2025

GRIN2A null variants confer a high risk for early-onset schizophrenia and other mental disorders and potentially enable precision therapy.

GRIN2A null variants confer a high risk for early-onset schizophrenia and other mental disorders and potentially enable precision therapy.

Journal: Molecular psychiatry

Published: November 15, 2024

Showing 1-12 of 33

Last Updated: 09/26/2026