Thomas Smol

29PUBLICATIONS
336CO-AUTHORS
NeonatologyEpigenetics (incl. genome methylation and epigenomics)Haematological tumoursMolecular targetsNeurogenetics
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Publications (29)

|Sep 21, 2026
5q31 duplications encompassing PURA are associated with a neurodevelopmental disorder.

|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

|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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Frequent Collaborators

7 joint publications

Jamal Ghoumid

6 joint publications

Florence Petit

3 joint publications

Pia Zacher

3 joint publications

Francesca Clementina Radio