Eva Hladílková

The clinical benefit of array-based comparative genomic hybridization for detection of copy number variants in Czech children with intellectual disability and developmental delay

R. Gaillyová, J. Smetana, P. Kuglík, 2019, BMC medical genomics.

Case Report: Contiguous Xq22.3 Deletion Associated with ATS-ID Syndrome: From Genotype to Further Delineation of the Phenotype

R. Gaillyová, P. Brož, J. Smetana, 2021, Frontiers in Genetics.

The clinical benefit of array-based comparative genomic hybridization for detection of copy number variants in Czech children with intellectual disability and developmental delay

R. Gaillyová, J. Smetana, P. Kuglík, 2019, BMC medical genomics.

A recurrent deletion on chromosome 2q13 is associated with developmental delay and mild facial dysmorphisms

D. Misceo, E. Frengen, M. Fannemel, 2015, Molecular Cytogenetics.

Novel de novo frameshift variant in the ASXL3 gene in a child with microcephaly and global developmental delay

R. Gaillyová, J. Oppelt, J. Smetana, 2019, Molecular medicine reports.

Novel familial IQSEC2 pathogenic sequence variant associated with neurodevelopmental disorders and epilepsy

R. Gaillyová, L. Krsková, J. Oppelt, 2020, neurogenetics.

Two Distinct De novo Pathogenic Sequence Variants in the SCN2A Gene in Children with Early Infantile Epileptic Encephalopathy/Ohtahara Syndrome

R. Gaillyová, J. Oppelt, J. Smetana, 2017 .