Alpha 2.0
Login Register
» Authors » Francoise Meire

Francoise Meire

Explore the profile of Francoise Meire including associated specialties, affiliations and a list of published articles. Areas
Snapshot
Articles 30
Citations 1136
Followers 0
Related Specialties
Genetics
Ophthalmology
General Medicine
Top 10 Co-Authors
Elfride De Baere
Bart P Leroy
Frauke Coppieters
Thomy de Ravel
Ingele Casteels
Hannah Verdin
Miriam Bauwens
Frans P M Cremers
Birgit Lorenz
Carel B Hoyng
Published In
Am J Hum Genet
Invest Ophthalmol Vis Sci
Genet Med
Hum Mutat
Am J Med Genet A
Affiliations
Soon will be listed here.
Recent Articles
1.
Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA-protein interaction
Williamson K, Hall H, Owen L, Livesey B, Hanson I, Adams G, et al.
Genet Med . 2019 Nov; 22(3):598-609. PMID: 31700164
Purpose: Most classical aniridia is caused by PAX6 haploinsufficiency. PAX6 missense variants can be hypomorphic or mimic haploinsufficiency. We hypothesized that missense variants also cause previously undescribed disease by altering...
2.
Isolated and Syndromic Retinal Dystrophy Caused by Biallelic Mutations in RCBTB1, a Gene Implicated in Ubiquitination
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...
3.
Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie Syndrome
Ansari M, Rainger J, Hanson I, Williamson K, Sharkey F, Harewood L, et al.
PLoS One . 2016 Apr; 11(4):e0153757. PMID: 27124303
We report molecular genetic analysis of 42 affected individuals referred with a diagnosis of aniridia who previously screened as negative for intragenic PAX6 mutations. Of these 42, the diagnoses were...
4.
A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect
McEntagart M, Williamson K, Rainger J, Wheeler A, Seawright A, De Baere E, et al.
Am J Hum Genet . 2016 Apr; 98(5):981-992. PMID: 27108798
Gillespie syndrome (GS) is characterized by bilateral iris hypoplasia, congenital hypotonia, non-progressive ataxia, and progressive cerebellar atrophy. Trio-based exome sequencing identified de novo mutations in ITPR1 in three unrelated individuals...
5.
Hidden Genetic Variation in LCA9-Associated Congenital Blindness Explained by 5'UTR Mutations and Copy-Number Variations of NMNAT1
Coppieters F, Todeschini A, Fujimaki T, Baert A, De Bruyne M, Van Cauwenbergh C, et al.
Hum Mutat . 2015 Aug; 36(12):1188-96. PMID: 26316326
Leber congenital amaurosis (LCA) is a severe autosomal-recessive retinal dystrophy leading to congenital blindness. A recently identified LCA gene is NMNAT1, located in the LCA9 locus. Although most mutations in...
6.
Novel FRMD7 Mutations and Genomic Rearrangement Expand the Molecular Pathogenesis of X-Linked Idiopathic Infantile Nystagmus
Almoallem B, Bauwens M, Walraedt S, Delbeke P, De Zaeytijd J, Kestelyn P, et al.
Invest Ophthalmol Vis Sci . 2015 Feb; 56(3):1701-10. PMID: 25678693
Purpose: Idiopathic infantile nystagmus (IIN; OMIM 31700) with X-linked inheritance is one of the most common forms of infantile nystagmus. Up to date, three X-linked loci have been identified, Xp11.4-p11.3...
7.
An augmented ABCA4 screen targeting noncoding regions reveals a deep intronic founder variant in Belgian Stargardt patients
Bauwens M, De Zaeytijd J, Weisschuh N, Kohl S, Meire F, Dahan K, et al.
Hum Mutat . 2014 Oct; 36(1):39-42. PMID: 25346251
Autosomal-recessive Stargardt disease (STGD1) is hallmarked by a large proportion of patients with a single heterozygous causative variant in the disease gene ABCA4. Braun et al. () reported deep intronic...
8.
Early-onset autosomal recessive cerebellar ataxia associated with retinal dystrophy: new human hotfoot phenotype caused by homozygous GRID2 deletion
Van Schil K, Meire F, Karlstetter M, Bauwens M, Verdin H, Coppieters F, et al.
Genet Med . 2014 Aug; 17(4):291-9. PMID: 25122145
Purpose: The aim of this study was to identify the genetic cause of early-onset autosomal recessive cerebellar ataxia associated with retinal dystrophy in a consanguineous family. Methods: An affected 6-month-old...
9.
Identity-by-descent-guided mutation analysis and exome sequencing in consanguineous families reveals unusual clinical and molecular findings in retinal dystrophy
Coppieters F, Van Schil K, Bauwens M, Verdin H, De Jaegher A, Syx D, et al.
Genet Med . 2014 Mar; 16(9):671-80. PMID: 24625443
Purpose: Autosomal recessive retinal dystrophies are clinically and genetically heterogeneous, which hampers molecular diagnosis. We evaluated identity-by-descent-guided Sanger sequencing or whole-exome sequencing in 26 families with nonsyndromic (19) or syndromic...
10.
Novel and recurrent PITX3 mutations in Belgian families with autosomal dominant congenital cataract and anterior segment dysgenesis have similar phenotypic and functional characteristics
Verdin H, Sorokina E, Meire F, Casteels I, de Ravel T, Semina E, et al.
Orphanet J Rare Dis . 2014 Feb; 9:26. PMID: 24555714
Background: Congenital cataracts are clinically and genetically heterogeneous with more than 45 known loci and 38 identified genes. They can occur as isolated defects or in association with anterior segment...