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Researcher
Pontus LeBlanc
Profile
Projects
Publications
Activities
Awards & Distinctions
6
Results
2024
Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability
Maria del Rocio Pérez Baca
Eva Jacobs
Lies Vantomme
Pontus LeBlanc
Elke Bogaert
Annelies Dheedene
Laurenz De Cock
Sadegheh Haghshenas
Aidin Foroutan
Michael A Levy
et al.
A1
Journal Article
in
AMERICAN JOURNAL OF HUMAN GENETICS
2024
2023
C-terminal frameshift variant of TDP-43 with pronounced aggregation-propensity causes rimmed vacuole myopathy but not ALS/FTD
Pedro Ervilha Pereira
Nika Schuermans
Antoon Meylemans
Pontus LeBlanc
Lauren Versluys
KE Copley
JD Rubien
C Altheimer
Myra Peetermans
Elke Debackere
et al.
A1
Journal Article
in
ACTA NEUROPATHOLOGICA
2023
SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability
Elke Bogaert
Aurore Garde
Thierry Gautier
Kathleen Rooney
Yannis Duffourd
Pontus LeBlanc
Emma Van Reempts
Frederic Tran Mau-Them
Ingrid M. Wentzensen
Kit Sing Au
et al.
A1
Journal Article
in
AMERICAN JOURNAL OF HUMAN GENETICS
2023
2022
A novel neurodevelopmental syndrome caused by loss-of-function of the Zinc Finger Homeobox 3 (ZFHX3) gene
Maria del Rocio Pérez Baca
Eva Jacobs
Lies Vantomme
Pontus LeBlanc
Elke Bogaert
Annelies Dheedene
Laurenz De Cock
Bart Dermaut
Aidin Foroutan
Jennifer Kerkhof
et al.
C3
Conference
2022
A structural variant of the C-terminal prion-like domain of TDP-43 causes vacuolar muscle degeneration
Pedro Ervilha Pereira
Nika Schuermans
Antoon Meylemans
Pontus LeBlanc
L Versluys
Elke Debackere
Olivier Vanakker
Sara Janssens
Jonathan Baets
K Verhoeven
et al.
C3
Conference
2022
Shortcutting the diagnostic odyssey : the multidisciplinary program for undiagnosed rare diseases in adults (UD-PrOZA)
Nika Schuermans
Dimitri Hemelsoet
Wim Terryn
Sanne Steyaert
Rudy Van Coster
Paul Coucke
Wouter Steyaert
Bert Callewaert
Elke Bogaert
Patrick Verloo
et al.
A1
Journal Article
in
ORPHANET JOURNAL OF RARE DISEASES
2022