Lucie Dupuis

11PUBLICATIONS
198CO-AUTHORS
Medical mycologyNeurogeneticsGene expression (incl. microarray and other genome-wide approaches)Developmental genetics (incl. sex determination)Neurology and neuromuscular diseases
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Publications (11)

|Jul 07, 2026
Confirmation of frameshift variants in the last exon of FGFR1 as a cause of multiple epiphyseal dysplasia.

|Jan 23, 2026
De novo variants in the splicing factor gene SF3B1 are associated with neurodevelopmental disorders.

Kevin Uguen, Tiffany Bergot, Marie-Pier Scott-Boyer

|Dec 12, 2024
Further delineation of the SCAF4-associated neurodevelopmental disorder.

Cosima M Schmid, Anne Gregor, Anna Ruiz

|Oct 18, 2024
Epigenomic and phenotypic characterization of DEGCAGS syndrome.

Karim Karimi, Denisa Weis, Ingvild Aukrust

|Jul 26, 2024
Correction: Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals.

Dana E Layo-Carris, Emily E Lubin, Annabel K Sangree

|Jun 21, 2024
GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases.

Hellen Lesmann, Alexander Hustinx, Shahida Moosa

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Frequent Collaborators

8 joint publications

Roberto Mendoza-Londono

3 joint publications

Radka Stoeva

3 joint publications

Christiane Zweier

3 joint publications

Philippe M Campeau