Sacha Schutz

Brest, France

Last Updated: 09/26/2026

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Found 17 publications

De Novo Truncating Variants in ZNF865 Cause a Novel Neurodevelopmental Disorder.

De Novo Truncating Variants in ZNF865 Cause a Novel Neurodevelopmental Disorder.

Journal: American journal of medical genetics. Part A
Published: January 14, 2025

Number of patients patients tested and number of patients diagnosed with Whipple's disease over the time and by specialty.

Number of patients patients tested and number of patients diagnosed with Whipple's disease over the time and by specialty.

Journal: Joint bone spine
Published: October 28, 2024

Exploring superconductivity under strong coupling with the vacuum electromagnetic field.

Exploring superconductivity under strong coupling with the vacuum electromagnetic field.

Journal: The Journal of chemical physics
Published: July 29, 2024

Combining full-length gene assay and SpliceAI to interpret the splicing impact of all possible SPINK1 coding variants.

Combining full-length gene assay and SpliceAI to interpret the splicing impact of all possible SPINK1 coding variants.

Journal: Human genomics
Published: November 09, 2023

An unusual diagnosis of alpha-mannosidosis with ocular anomalies: Behind the scenes of a hidden copy number variation.

An unusual diagnosis of alpha-mannosidosis with ocular anomalies: Behind the scenes of a hidden copy number variation.

Journal: American journal of medical genetics. Part A
Published: October 10, 2023

Renal involvement is frequent in adults with primary mitochondrial disorders: an observational study.

Renal involvement is frequent in adults with primary mitochondrial disorders: an observational study.

Journal: Clinical kidney journal
Published: April 14, 2022

Cutevariant: a standalone GUI-based desktop application to explore genetic variations from an annotated VCF file.

Cutevariant: a standalone GUI-based desktop application to explore genetic variations from an annotated VCF file.

Journal: Bioinformatics advances
Published: August 04, 2021

Genetic features of the poxtA linezolid resistance gene in human enterococci from France.

Genetic features of the poxtA linezolid resistance gene in human enterococci from France.

Journal: The Journal of antimicrobial chemotherapy
Published: December 29, 2020

PharmFrag: An Easy and Fast Multiplex Pharmacogenetics Assay to Simultaneously Analyze 9 Genetic Polymorphisms Involved in Response Variability of Anticancer Drugs.

PharmFrag: An Easy and Fast Multiplex Pharmacogenetics Assay to Simultaneously Analyze 9 Genetic Polymorphisms Involved in Response Variability of Anticancer Drugs.

Journal: International journal of molecular sciences
Published: November 26, 2020

Non-Linear Pharmacokinetics of Oral Roscovitine (Seliciclib) in Cystic Fibrosis Patients Chronically Infected with Pseudomonas aeruginosa: A Study on Population Pharmacokinetics with Monte Carlo Simulations.

Non-Linear Pharmacokinetics of Oral Roscovitine (Seliciclib) in Cystic Fibrosis Patients Chronically Infected with Pseudomonas aeruginosa: A Study on Population Pharmacokinetics with Monte Carlo Simulations.

Journal: Pharmaceutics
Published: October 18, 2020

EXT1 and EXT2 Variants in 22 Chinese Families With Multiple Osteochondromas: Seven New Variants and Potentiation of Preimplantation Genetic Testing and Prenatal Diagnosis.

EXT1 and EXT2 Variants in 22 Chinese Families With Multiple Osteochondromas: Seven New Variants and Potentiation of Preimplantation Genetic Testing and Prenatal Diagnosis.

Journal: Frontiers in genetics
Published: September 18, 2020

Molecular and functional analysis of the novel cfr(D) linezolid resistance gene identified in Enterococcus faecium.

Molecular and functional analysis of the novel cfr(D) linezolid resistance gene identified in Enterococcus faecium.

Journal: The Journal of antimicrobial chemotherapy
Published: November 29, 2019
Showing 1-12 of 17

Last Updated: 09/26/2026