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1.
Multi-omics approach dissects cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy.
Am J Hum Genet
; 109(11): 2029-2048, 2022 11 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-36243009
2.
A novel duplication involving PRDM13 in a Turkish family supports its role in North Carolina macular dystrophy (NCMD/MCDR1).
Mol Vis
; 27: 518-527, 2021.
Artículo
en Inglés
| MEDLINE | ID: mdl-34526759
3.
Functional characterization of the first missense variant in CEP78, a founder allele associated with cone-rod dystrophy, hearing loss, and reduced male fertility.
Hum Mutat
; 41(5): 998-1011, 2020 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-31999394
4.
Correction: Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease.
Genet Med
; 21(4): 1028, 2019 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-30607024
5.
ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants.
Genet Med
; 21(8): 1761-1771, 2019 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-30670881
6.
Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease.
Genet Med
; 21(6): 1319-1329, 2019 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-30377383
7.
Thorough in silico and in vitro cDNA analysis of 21 putative BRCA1 and BRCA2 splice variants and a complex tandem duplication in BRCA2 allowing the identification of activated cryptic splice donor sites in BRCA2 exon 11.
Hum Mutat
; 39(4): 515-526, 2018 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-29280214
8.
NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development.
Genet Med
; 19(4): 367-376, 2017 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-27490115
9.
Extensive genetic variability linked to IS26 insertions in the fljB promoter region of atypical monophasic variants of Salmonella enterica serovar Typhimurium.
Appl Environ Microbiol
; 81(9): 3169-75, 2015 May 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-25724958
10.
Syntaxin 18 Defects in Human and Zebrafish Unravel Key Roles in Early Cartilage and Bone Development.
J Bone Miner Res
; 38(11): 1718-1730, 2023 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-37718532
11.
Loss of phospholipase PLAAT3 causes a mixed lipodystrophic and neurological syndrome due to impaired PPARγ signaling.
Nat Genet
; 55(11): 1929-1940, 2023 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-37919452
12.
Phylogeographic analysis of avian influenza viruses isolated from Charadriiformes in Belgium confirms intercontinental reassortment in gulls.
Arch Virol
; 157(8): 1509-22, 2012 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-22580556
13.
Identification and complete genome sequencing of paramyxoviruses in mallard ducks (Anas platyrhynchos) using random access amplification and next generation sequencing technologies.
Virol J
; 8: 463, 2011 Oct 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-21978491
14.
Dealing with Pseudogenes in Molecular Diagnostics in the Next Generation Sequencing Era.
Methods Mol Biol
; 2324: 363-381, 2021.
Artículo
en Inglés
| MEDLINE | ID: mdl-34165726
15.
Phenocopy of a heterozygous carrier of X-linked retinitis pigmentosa due to mosaicism for a RHO variant.
Sci Rep
; 11(1): 117, 2021 01 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-33420188
16.
Prevalence of Germline Pathogenic Variants in Cancer Predisposing Genes in Czech and Belgian Pancreatic Cancer Patients.
Cancers (Basel)
; 13(17)2021 Sep 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-34503238
17.
Long-Read Sequencing to Unravel Complex Structural Variants of CEP78 Leading to Cone-Rod Dystrophy and Hearing Loss.
Front Cell Dev Biol
; 9: 664317, 2021.
Artículo
en Inglés
| MEDLINE | ID: mdl-33968938
18.
Accurate detection and quantification of epigenetic and genetic second hits in BRCA1 and BRCA2-associated hereditary breast and ovarian cancer reveals multiple co-acting second hits.
Cancer Lett
; 425: 125-133, 2018 07 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-29580810
19.
Complete Genome Sequence of Bovine Polyomavirus Type 1 from Aborted Cattle, Isolated in Belgium in 2014.
Genome Announc
; 4(2)2016 Mar 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-26941154
20.
Complete Coding Sequences of One H9 and Three H7 Low-Pathogenic Influenza Viruses Circulating in Wild Birds in Belgium, 2009 to 2012.
Genome Announc
; 4(3)2016 Jun 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-27284153