Thomas M. Simonet

Groupement Hospitalier Est, Service De Biochimie Et Biologie Moléculaire Grand Est
Bron, France

Last Updated: 09/26/2026

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Found 31 publications

Catheter-associated bacteremia caused by Asaia lannensis in an immunosuppressed patient: a case report.

Catheter-associated bacteremia caused by Asaia lannensis in an immunosuppressed patient: a case report.

Journal: BMC infectious diseases
Published: November 25, 2025

Systematic evaluation of mobile element insertions in autosomal dominant hypercholesterolemia genes using short-read sequencing.

Systematic evaluation of mobile element insertions in autosomal dominant hypercholesterolemia genes using short-read sequencing.

Journal: Atherosclerosis
Published: November 08, 2025

Exome sequencing enables molecular diagnosis in 10% of early-onset or familial systemic lupus erythematosus cases.

Exome sequencing enables molecular diagnosis in 10% of early-onset or familial systemic lupus erythematosus cases.

Journal: EBioMedicine
Published: October 07, 2025

Mobile Element Insertion in the APOB Exon 3 Coding Sequence: A New Challenge in Hypobetalipoproteinemia Diagnosis.

Mobile Element Insertion in the APOB Exon 3 Coding Sequence: A New Challenge in Hypobetalipoproteinemia Diagnosis.

Journal: Clinical genetics
Published: October 02, 2024

Spatial Transcriptomics Reveals Signatures of Histopathological Changes in Muscular Sarcoidosis.

Spatial Transcriptomics Reveals Signatures of Histopathological Changes in Muscular Sarcoidosis.

Journal: Cells
Published: November 09, 2023

Real life evaluation of AlphaMissense predictions in hematological malignancies.

Real life evaluation of AlphaMissense predictions in hematological malignancies.

Journal: Leukemia
Published: October 25, 2023

H2A.Z is involved in premature aging and DSB repair initiation in muscle fibers.

H2A.Z is involved in premature aging and DSB repair initiation in muscle fibers.

Journal: Nucleic acids research
Published: April 04, 2023

LSD1 controls a nuclear checkpoint in Wnt/β-Catenin signaling to regulate muscle stem cell self-renewal.

LSD1 controls a nuclear checkpoint in Wnt/β-Catenin signaling to regulate muscle stem cell self-renewal.

Journal: Nucleic acids research
Published: September 13, 2022

Homozygous COQ7 mutation: a new cause of potentially treatable distal hereditary motor neuropathy.

Homozygous COQ7 mutation: a new cause of potentially treatable distal hereditary motor neuropathy.

Journal: Brain : a journal of neurology
Published: July 18, 2022

Interplay between PML NBs and HIRA for H3.3 dynamics following type I interferon stimulus.

Interplay between PML NBs and HIRA for H3.3 dynamics following type I interferon stimulus.

Journal: eLife
Published: May 10, 2022

Severe congenital myasthenic syndromes caused by agrin mutations affecting secretion by motoneurons.

Severe congenital myasthenic syndromes caused by agrin mutations affecting secretion by motoneurons.

Journal: Acta neuropathologica
Published: February 01, 2022

Dynamic persistence of UPEC intracellular bacterial communities in a human bladder-chip model of urinary tract infection.

Dynamic persistence of UPEC intracellular bacterial communities in a human bladder-chip model of urinary tract infection.

Journal: eLife
Published: January 12, 2021
Showing 1-12 of 31

Last Updated: 09/26/2026