Thomas Smol

28PUBLICATIONS

334CO-AUTHORS

Epigenetics (incl. genome methylation and epigenomics)Haematological tumoursMolecular targetsNeurogeneticsCentral nervous system

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Publications (28)

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|Jun 06, 2026

Novel Variants in PUS7 Associated With Intellectual Disability and Growth Retardation: Expanding the Clinical Spectrum in 13 Patients.

|May 23, 2026

The t(X;5)(q13;q33) Translocation in Myeloid Neoplasms Is Preferentially Associated With Chronic Myelomonocytic Leukemia: A Report From the Groupe Francophone de Cytogénétique Hématologique.

|Apr 05, 2026

Compound heterozygous structural variants resulting in CNTNAP2 biallelic loss-of-function: rare mechanisms unveiled by genome sequencing.

Jade Fauqueux, Roseline Caumes, Cindy Colson

|Apr 02, 2026

Correction: Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization.

Camille Engel, Michaela Rendek, Jessica Assoumani

|Mar 12, 2026

Missense Variants in the A Isoform of FGF13 as a Novel Cause of Paroxysmal Dyskinesia.

Cyril Mignot, Matthildi Athina Papathanasiou Terzi, Claudia Ravelli

|Aug 21, 2025

Long-read sequencing of recurrent FGF12 duplications in epilepsy: Insights into structural mechanisms and aberrant isoforms.

Jade Fauqueux, Laurence Chaton, Pierre Cleuziou

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