Nicolas Derive

Paris, 75000, France

Last Updated: 09/26/2026

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Found 18 publications

Integrative and interactive genomic analyses guiding personalized combined therapy improve clinical benefit in metastatic patients: A monocentric real-life experience.

Integrative and interactive genomic analyses guiding personalized combined therapy improve clinical benefit in metastatic patients: A monocentric real-life experience.

Journal: Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie

Published: December 02, 2025

An Update of Phenotypic-Genotypic IMNEPD Cases and a Bioinformatics Analysis of the New PTRH2 Gene Variants.

An Update of Phenotypic-Genotypic IMNEPD Cases and a Bioinformatics Analysis of the New PTRH2 Gene Variants.

Journal: Genes

Published: October 24, 2024

Consolidating the Role of Mutated ATP2B2 in Neurodevelopmental and Cerebellar Pathologies.

Consolidating the Role of Mutated ATP2B2 in Neurodevelopmental and Cerebellar Pathologies.

Journal: Clinical genetics

Published: July 27, 2024

Correction: Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals.

Correction: Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals.

Journal: European journal of human genetics : EJHG

Published: July 26, 2024

Uniparental IsoDisomy: a case study on a new mechanism of Friedreich ataxia.

Uniparental IsoDisomy: a case study on a new mechanism of Friedreich ataxia.

Journal: European journal of human genetics : EJHG

Published: May 15, 2024

Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals.

Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals.

Journal: European journal of human genetics : EJHG

Published: February 03, 2024

Heterozygous UBR5 variants result in a neurodevelopmental syndrome with developmental delay, autism, and intellectual disability.

Heterozygous UBR5 variants result in a neurodevelopmental syndrome with developmental delay, autism, and intellectual disability.

Journal: American journal of human genetics

Published: December 08, 2023

Genome-wide analysis identifies MYH11 compound heterozygous variants leading to visceral myopathy corresponding to late-onset form of megacystis-microcolon-intestinal hypoperistalsis syndrome.

Genome-wide analysis identifies MYH11 compound heterozygous variants leading to visceral myopathy corresponding to late-onset form of megacystis-microcolon-intestinal hypoperistalsis syndrome.

Journal: Molecular genetics and genomics : MGG

Published: July 05, 2023

Olaparib in the Setting of Radiotherapy-Associated Sarcoma: What Can Precision Medicine Offer For Rare Cancers?

Olaparib in the Setting of Radiotherapy-Associated Sarcoma: What Can Precision Medicine Offer For Rare Cancers?

Journal: JCO precision oncology

Published: February 27, 2023

Adenoid cystic carcinoma of Bartholin's gland, a case report with genomic data and literature review.

Adenoid cystic carcinoma of Bartholin's gland, a case report with genomic data and literature review.

Journal: Cancer radiotherapie : journal de la Societe francaise de radiotherapie oncologique

Published: January 11, 2023

Unexpected Inheritance Patterns in a Large Cohort of Patients with a Suspected Ciliopathy.

Unexpected Inheritance Patterns in a Large Cohort of Patients with a Suspected Ciliopathy.

Journal: Human mutation

Published: January 08, 2023

First reports of fetal SMARCC1 related hydrocephalus.

First reports of fetal SMARCC1 related hydrocephalus.

Journal: European journal of medical genetics

Published: November 27, 2022

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Last Updated: 09/26/2026