Thalia Van Laethem
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Explore the profile of Thalia Van Laethem including associated specialties, affiliations and a list of published articles.
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Articles
8
Citations
153
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Recent Articles
1.
Ascari G, Rendtorff N, De Bruyne M, De Zaeytijd J, Van Lint M, Bauwens M, et al.
Front Cell Dev Biol
. 2021 May;
9:664317.
PMID: 33968938
Inactivating variants as well as a missense variant in the centrosomal gene have been identified in autosomal recessive cone-rod dystrophy with hearing loss (CRDHL), a rare syndromic inherited retinal disease...
2.
Ascari G, Peelman F, Farinelli P, Rosseel T, Lambrechts N, Wunderlich K, et al.
Hum Mutat
. 2020 Jan;
41(5):998-1011.
PMID: 31999394
Inactivating variants in the centrosomal CEP78 gene have been found in cone-rod dystrophy with hearing loss (CRDHL), a particular phenotype distinct from Usher syndrome. Here, we identified and functionally characterized...
3.
Bauwens M, Garanto A, Sangermano R, Naessens S, Weisschuh N, De Zaeytijd J, et al.
Genet Med
. 2019 Jan;
21(8):1761-1771.
PMID: 30670881
Purpose: ABCA4-associated disease, a recessive retinal dystrophy, is hallmarked by a large proportion of patients with only one pathogenic ABCA4 variant, suggestive for missing heritability. Methods: By locus-specific analysis of...
4.
Van de Sompele S, Smith C, Karali M, Corton M, Van Schil K, Peelman F, et al.
Genet Med
. 2019 Jan;
21(4):1028.
PMID: 30607024
The original version of this Article contained an incorrect version of Fig. 3, which included two variants initially shown in black text in Fig. 3a that the authors removed from...
5.
Van de Sompele S, Smith C, Karali M, Corton M, Van Schil K, Peelman F, et al.
Genet Med
. 2018 Nov;
21(6):1319-1329.
PMID: 30377383
Purpose: RAX2 encodes a homeobox-containing transcription factor, in which four monoallelic pathogenic variants have been described in autosomal dominant cone-dominated retinal disease. Methods: Exome sequencing in a European cohort with...
6.
Van Cauwenbergh C, Van Schil K, Cannoodt R, Bauwens M, Van Laethem T, De Jaegere S, et al.
Genet Med
. 2016 Sep;
19(4):457-466.
PMID: 27608171
Purpose: Our goal was to design a customized microarray, arrEYE, for high-resolution copy number variant (CNV) analysis of known and candidate genes for inherited retinal dystrophy (iRD) and retina-expressed noncoding...
7.
Coppieters F, Ascari G, Dannhausen K, Nikopoulos K, Peelman F, Karlstetter M, et al.
Am J Hum Genet
. 2016 Aug;
99(2):470-80.
PMID: 27486781
Inherited retinal dystrophies (iRDs) are a group of genetically and clinically heterogeneous conditions resulting from mutations in over 250 genes. Here, homozygosity mapping and whole-exome sequencing (WES) in a consanguineous...
8.
Mampaey E, Fieuw A, Van Laethem T, Ferdinande L, Claes K, Ceelen W, et al.
PLoS One
. 2015 Jul;
10(7):e0131421.
PMID: 26222184
Background: With one million new cases of colorectal cancer (CRC) diagnosed annually in the world, CRC is the third most commonly diagnosed cancer in the Western world. Patients with stage...