Irina Balikova

Effect of an intravitreal antisense oligonucleotide on vision in Leber congenital amaurosis due to a photoreceptor cilium defect

Artur V. Cideciyan, Samuel G. Jacobson, Arlene V. Drack et al. · Nature Medicine · 2018 · 216 citations · Full text

Medicine, Ophthalmology, Vision Science +15

ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants

Alejandro Garanto, Riccardo Sangermano, Sarah Naessens et al. · Genetics in Medicine · 2019 · 163 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Subtelomeric imbalances in phenotypically normal individuals

Irina Balikova, Björn Menten, Thomy de Ravel et al. · Human Mutation · 2007 · 126 citations

Life Sciences, Genetics, Molecular Genetics +17

Safety and efficacy of risdiplam in patients with type 1 spinal muscular atrophy (FIREFISH part 2): secondary analyses from an open-label trial

Riccardo Masson, Maria Mazurkiewicz-Bełdzińska, Kristy Rose et al. · The Lancet Neurology · 2022 · 104 citations · Full text

Medicine, Neurology, Pharmacotherapy +6

Autosomal-Dominant Microtia Linked to Five Tandem Copies of a Copy-Number-Variable Region at Chromosome 4p16

Irina Balikova, Kevin Martens, Cindy Melotte et al. · The American Journal of Human Genetics · 2008 · 87 citations · Full text

Life Sciences, Genetics, Molecular Genetics +9