Caroline Schluth-Bolard

9PUBLICATIONS
34CO-AUTHORS
Special needs dentistryNeurology and neuromuscular diseasesEpigenetics (incl. genome methylation and epigenomics)Gene expression (incl. microarray and other genome-wide approaches)Developmental genetics (incl. sex determination)
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Publications (9)

|Mar 12, 2026
Diagnosis complexity of dentinogenesis imperfecta involving DSPP genetic variants.

Gaétan Caravello, Alexandra Jiménez-Armijo, Marzena Kawczynski

|Jan 28, 2026
De novo heterozygous variants of the RSF1 gene are responsible for a syndromic neurodevelopmental disorder.

Céline Jost, Tiffany Busa, Daniel Wegner

|Jan 08, 2026
Newly identified ARF3 variants strengthen the causal link between Golgi fragmentation and brain malformations.

Valentina Muto, Giulia Fasano, Francesca Clementina Radio

|Aug 20, 2025
Resolving structural variations missed by short-read sequencing uncovers their pathogenicity.

Caroline Schluth-Bolard, Laïla El Khattabi, Pierre-Antoine Rollat-Farnier

|Apr 01, 2024
Possible incomplete penetrance of Xq28 int22h-1/int22h-2 duplication.

Alexis Billes, Mathilde Pujalte, Guillaume Jedraszak

|Dec 28, 2022
Familial transmission of chromoanagenesis leads to unpredictable unbalanced rearrangements through meiotic recombination.

Julie Masson, Céline Pebrel-Richard, Matthieu Egloff

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Frequent Collaborators

2 joint publications

Nicolas Chatron

1 joint publications

T Yammine

1 joint publications

Patrick Callier

1 joint publications

Benedicte Demeer