Pontus LeBlanc
Overview
Explore the profile of Pontus LeBlanc including associated specialties, affiliations and a list of published articles.
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5
Citations
38
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Recent Articles
1.
Perez Baca M, Jacobs E, Vantomme L, LeBlanc P, Bogaert E, Dheedene A, et al.
Am J Hum Genet
. 2024 Feb;
111(3):509-528.
PMID: 38412861
Neurodevelopmental disorders (NDDs) result from impaired development and functioning of the brain. Here, we identify loss-of-function (LoF) variation in ZFHX3 as a cause for syndromic intellectual disability (ID). ZFHX3 is...
2.
Perez Baca M, Jacobs E, Vantomme L, LeBlanc P, Bogaert E, Dheedene A, et al.
medRxiv
. 2023 Jun;
PMID: 37292950
Neurodevelopmental disorders (NDDs) result from impaired development and functioning of the brain. Here, we identify loss-of-function variation in as a novel cause for syndromic intellectual disability (ID). ZFHX3, previously known...
3.
Bogaert E, Garde A, Gautier T, Rooney K, Duffourd Y, LeBlanc P, et al.
Am J Hum Genet
. 2023 Apr;
110(5):790-808.
PMID: 37071997
SRSF1 (also known as ASF/SF2) is a non-small nuclear ribonucleoprotein (non-snRNP) that belongs to the arginine/serine (R/S) domain family. It recognizes and binds to mRNA, regulating both constitutive and alternative...
4.
Ervilha Pereira P, Schuermans N, Meylemans A, LeBlanc P, Versluys L, Copley K, et al.
Acta Neuropathol
. 2023 Mar;
145(6):793-814.
PMID: 37000196
Neuronal TDP-43-positive inclusions are neuropathological hallmark lesions in frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). Pathogenic missense variants in TARDBP, the gene encoding TDP-43, can cause ALS and cluster...
5.
Schuermans N, Hemelsoet D, Terryn W, Steyaert S, Van Coster R, Coucke P, et al.
Orphanet J Rare Dis
. 2022 May;
17(1):210.
PMID: 35606766
Background: In order to facilitate the diagnostic process for adult patients suffering from a rare disease, the Undiagnosed Disease Program (UD-PrOZA) was founded in 2015 at the Ghent University Hospital...