Virginie C. Poisson

LINE‐ and Alu‐containing genomic instability hotspot at 16q24.1 associated with recurrent and nonrecurrent CNV deletions causative for ACDMPV

Justyna A. Karolak, P. Stankiewicz, P. Szafranski, 2018, Human mutation.

Association of rare non-coding SNVs in the lung-specific FOXF1 enhancer with a mitigation of the lethal ACDMPV phenotype

Justyna A. Karolak, N. de Leeuw, P. Stankiewicz, 2019, Human Genetics.

Private SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) families from Turkey

H. Topaloglu, A. Richter, R. Ozgul, 2004, Neurogenetics.