Stephane Pinson

Lyon, 69000, France

Last Updated: 09/26/2026

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Found 24 publications

Detecting unannotated splicing events in short-read RNA-seq with SAMI, a UMI-aware Nextflow pipeline.

Detecting unannotated splicing events in short-read RNA-seq with SAMI, a UMI-aware Nextflow pipeline.

Journal: Bioinformatics (Oxford, England)

Published: October 17, 2025

AXIN2 germline testing in a French cohort validates pathogenic variants as a rare cause of predisposition to colorectal polyposis and cancer.

AXIN2 germline testing in a French cohort validates pathogenic variants as a rare cause of predisposition to colorectal polyposis and cancer.

Journal: Genes, chromosomes & cancer

Published: September 26, 2022

Human Radiosensitivity and Radiosusceptibility: What Are the Differences?

Human Radiosensitivity and Radiosusceptibility: What Are the Differences?

Journal: International journal of molecular sciences

Published: June 02, 2021

Further delineation of the NTHL1 associated syndrome: A report from the French Oncogenetic Consortium.

Further delineation of the NTHL1 associated syndrome: A report from the French Oncogenetic Consortium.

Journal: Clinical genetics

Published: November 04, 2020

Individual Response to Radiation of Individuals with Neurofibromatosis Type I: Role of the ATM Protein and Influence of Statins and Bisphosphonates.

Individual Response to Radiation of Individuals with Neurofibromatosis Type I: Role of the ATM Protein and Influence of Statins and Bisphosphonates.

Journal: Molecular neurobiology

Published: September 25, 2020

Primary hyperparathyroidism as first manifestation in multiple endocrine neoplasia type 2A: an international multicenter study.

Primary hyperparathyroidism as first manifestation in multiple endocrine neoplasia type 2A: an international multicenter study.

Journal: Endocrine connections

Published: April 16, 2020

Endoscopic Phenotype of Monoallelic Carriers of MUTYH Gene Mutations in the Family of Polyposis Patients: A Prospective Study.

Endoscopic Phenotype of Monoallelic Carriers of MUTYH Gene Mutations in the Family of Polyposis Patients: A Prospective Study.

Journal: Diseases of the colon and rectum

Published: January 15, 2019

Exome sequencing and pathogenicity-network analysis of five French families implicate mTOR signalling and autophagy in familial sarcoidosis.

Exome sequencing and pathogenicity-network analysis of five French families implicate mTOR signalling and autophagy in familial sarcoidosis.

Journal: The European respiratory journal

Published: November 05, 2018

Charcot-Marie-Tooth (CMT)-like polyneuropathy revealing neurofibromatosis type 2: A case report and review of the literature.

Charcot-Marie-Tooth (CMT)-like polyneuropathy revealing neurofibromatosis type 2: A case report and review of the literature.

Journal: Revue neurologique

Published: July 26, 2018

Nationwide French Study of RET Variants Detected from 2003 to 2013 Suggests a Possible Influence of Polymorphisms as Modifiers.

Nationwide French Study of RET Variants Detected from 2003 to 2013 Suggests a Possible Influence of Polymorphisms as Modifiers.

Journal: Thyroid : official journal of the American Thyroid Association

Published: September 27, 2017

Whole exome sequencing in three families segregating a pediatric case of sarcoidosis.

Whole exome sequencing in three families segregating a pediatric case of sarcoidosis.

Journal: BMC medical genomics

Published: August 13, 2017

Interest of systematic screening of pheochromocytoma in patients with neurofibromatosis type 1.

Interest of systematic screening of pheochromocytoma in patients with neurofibromatosis type 1.

Journal: European journal of endocrinology

Published: March 15, 2016

Showing 1-12 of 24

Last Updated: 09/26/2026