Irina Balikova

Domaines de recherche

• 2005
  Acrofacial dysostosis type Rodríguez.
• 2005
  The acrofacial dysostoses--a wide spectrum of overlapping phenotypes.
• 2006
  Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports.
• 2006
  olecular karyotyping of patients with MCA/MR: the blurred boundary between normal and pathogenic variation.
• 2007
  Subtelomeric imbalances in phenotypically normal individuals.
• 2008
  Autosomal-dominant microtia linked to five tandem copies of a copy-number-variable region at chromosome 4p16.
• 2008
  Lobar holoprosencephaly in 18pter deletion resulting from the karyotype 45,X,-18,der(8;18)t(8; 18)(pter;p11.21).
• 2009
  Bronchiectasis and immune deficiency in an adult patient with deletion 2q37 due to an unbalanced translocation t(2;10).
• 2009
  Another patient with a de novo deletion further delineates the 2q33.1 microdeletion syndrome.
• 2009
  "Opitz C syndrome and pseudohypoaldosteronism" is caused by a chromosome 4q deletion.
• 2009
  Deletions in the VPS13B (COH1) gene as a cause of Cohen syndrome.
• 2010
  FOXD1 Duplication Causes Branchial Defects and Interacts with the TFAP2A Gene Implicated in the Branchio-Oculo-Facial Syndrome in Causing Eye Effects in Zebrafish.
• 2011
  2q31.1 microdeletion syndrome: redefining the associated clinical phenotype.
• 2011
  The power of high-resolution non-targeted array-CGH in identifying intragenic rearrangements responsible for Cohen syndrome.
• 2011
  High frequency of submicroscopic chromosomal deletions in patients with idiopathic congenital eye malformations.
• 2011
  The causality of de novo copy number variants is overestimated.
• 2011
  High frequency of submicroscopic chromosomal deletions in patients with idiopathic congenital eye malformations. Am J Ophthalmol
• 2015
  Ocular manifestations of microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID) syndrome associated with mutations in KIF11. Acta Ophthalmol
• 2015
  No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome.
• 2016
  Ocular manifestations of microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID) syndrome associated with mutations in KIF11.
• 2018
  Analysis of KERA in four families with cornea plana identifies two novel mutations.
• 2019
  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.
• 2019
  Where are the missing gene defects in inherited retinal disorders? Intronic and synonymous variants contribute at least to 4% of CACNA1F-mediated inherited retinal disorders. Hum Mutat
• 2019
  Truncating RAX Mutations: Anophthalmia, Hypopituitarism, Diabetes Insipidus, and Cleft Palate in Mice and Men.
• 2019
  Genetic biomarkers in the VEGF pathway predicting response to anti-VEGF therapy in age-related macular degeneration.
• 2019
  Where are the missing gene defects in inherited retinal disorders? Intronic and synonymous variants contribute at least to 4% of CACNA1F-mediated inherited retinal disorders.
• 2019
  ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants.
• 2019
  Effect of an intravitreal antisense oligonucleotide on vision in Leber congenital amaurosis due to a photoreceptor cilium defect.
• 2020
  MULTIMODAL IMAGING IN HELLP-RELATED CHORIORETINOPATHY.
• 2020
  Three cases of molecularly confirmed Knobloch syndrome.
• 2020
  Functional characterization of the first missense variant in CEP78, a founder allele associated with cone-rod dystrophy, hearing loss, and reduced male fertility.
• 2020
  The majority of autosomal recessive nanophthalmos and posterior microphthalmia can be attributed to biallelic sequence and structural variants in MFRP and PRSS56.
• 2020
  Microcoria due to first duplication of 13q32.1 including the GPR180 gene and maternal mosaicism.
• 2021
  Peripheral polypoidal choroidal vasculopathy in Sorsby fundus dystrophy: Report of two cases.
• 2021
  Congenital stationary night blindness in a patient with mild learning disability due to a compound heterozygous microdeletion of 15q13 and a missense mutation in TRPM1. Ophthalmic Genet
• 2021
  Peripheral polypoidal choroidal vasculopathy in Sorsby fundus dystrophy: Report of two cases. Online ahead of print
• 2021
  Two siblings with Heimler syndrome caused by PEX1 variants: follow-up of ophthalmologic findings.
• 2021
  Risdiplam-Treated Infants with Type 1 Spinal Muscular Atrophy versus Historical Controls
• 2021
  Risdiplam in Type 1 Spinal Muscular Atrophy. Clinical Trial
• 2021
  The Retina in Patients With Triple A Syndrome: A Window Into Neurodegeneration?
• 2021
  CLINICAL CHARACTERISTICS AND NATURAL HISTORY OF RHO-ASSOCIATED RETINITIS PIGMENTOSA: A Long-Term Follow-Up Study.
• 2021
  Expanding the clinical spectrum and management of Traboulsi syndrome: report on two siblings homozygous for a novel pathogenic variant in ASPH.
• 2021
  Congenital stationary night blindness in a patient with mild learning disability due to a compound heterozygous microdeletion of 15q13 and a missense mutation in TRPM1.
• 2022
  Expanding the clinical spectrum and management of Traboulsi syndrome: report on two siblings homozygous for a novel pathogenic variant in ASPH.
• 2022
  Genetics in primary congenital glaucoma: Implications in disease management and counseling.
• 2022
  Safety and efficacy of once-daily risdiplam in type 2 and non-ambulant type 3 spinal muscular atrophy (SUNFISH part 2): a phase 3, double-blind, randomised, placebo-controlled trial.
• 2022
  Safety and efficacy of risdiplam in patients with type 1 spinal muscular atrophy (FIREFISH part 2): secondary analyses from an open-label trial. Clinical Trial
• 2022
  Multi-omics approach dissects cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy.
• 2022
  Association between near viewing and acute acquired esotropia in children during tablet and smartphone use.
• 2022
  High myopia and vitreal veils in a patient with Poretti- Boltshauser syndrome due to a novel homozygous LAMA1 mutation.
• 2023
  Two siblings with Bosch-Boonstra-Schaaf optic atrophy syndrome due to parental gonadal mosaicism.
• 2023
  Correction to: Risdiplam in Patients Previously Treated with Other Therapies for Spinal Muscular Atrophy: An Interim Analysis from the JEWELFISH Study.
• 2023
  Risdiplam in Patients Previously Treated with Other Therapies for Spinal Muscular Atrophy: An Interim Analysis from the JEWELFISH Study.
• 2023
  Unilateral Melanoma-Associated Retinopathy Case Report. Free PMC article
• 2023
  Paediatric cataract surgery with 27G vitrectomy instrumentation: the Ghent University Hospital Experience.
• 2024
  Expanding the genetic landscape of Usher syndrome type IV caused by pathogenic ARSG variants.
• 2025
  Bi-allelic loss-of-function variants in POC5 cause a syndromic retinal, endocrine, and neuromuscular ciliopathy. Free PMC article.
• 2025
  Characterising the refractive error in paediatric patients with congenital stationary night blindness: a multicentre study.