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 · 209 citations · Full text

Leber Congenital Amaurosis, Photoreceptor Cilium Defect, Ocular Disease +10

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

Miriam Bauwens, Alejandro Garanto, Riccardo Sangermano et al. · Genetics in Medicine · 2019 · 158 citations · Full text

Subtelomeric imbalances in phenotypically normal individuals

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

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 · 96 citations · Full text

Type 1, Firefish Part 2, Rehabilitation +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

Chromatin, Genome Instability, Autosomal-dominant Microtia Linked +14