Valentin Bourgeois
Dijon, France
Last Updated: 09/26/2026
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Found 9 publications
PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasia.
Journal: The Journal of clinical investigation
Published: April 26, 2024
OMIXCARE: OMICS technologies solved about 33% of the patients with heterogeneous rare neuro-developmental disorders and negative exome sequencing results and identified 13% additional candidate variants.
Journal: Frontiers in cell and developmental biology
Published: August 17, 2022
Epileptic encephalopathy as a new feature of the sudden infant death with dysgenesis of the testes syndrome caused by TSPYL1 variants.
Journal: American journal of medical genetics. Part A
Published: February 18, 2022
Interest of exome sequencing trio-like strategy based on pooled parental DNA for diagnosis and translational research in rare diseases.
Journal: Molecular genetics & genomic medicine
Published: May 31, 2021
Diagnosis of exon 12-positive polycythemia vera rescued by NGS.
Journal: Clinical case reports
Published: December 13, 2019
Impact of interferon on a triple positive polycythemia vera.
Journal: Leukemia
Published: August 23, 2019
High HFE mutation incidence in idiopathic erythrocytosis.
Journal: British journal of haematology
Published: November 09, 2018
Germline JAK2 L611S mutation in a child with thrombocytosis.
Journal: Haematologica
Published: March 24, 2018
Showing 1-9 of 9
Last Updated: 09/26/2026