Ekaterina Lozier

De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathy

Frédéric Tran Mau‐Them, Laurent Guibaud, Laurence Duplomb et al. · Genetics in Medicine · 2018 · 57 citations · Full text

Developmental Biology, Intronless Irf2bpl, Developmental Epileptic Encephalopathy +8

De novo nonsense mutation in WHSC1 (NSD2) in patient with intellectual disability and dysmorphic features

Ekaterina Lozier, Fedor A. Konovalov, Ilya Kanivets et al. · Journal of Human Genetics · 2018 · 37 citations

Genetic Disorder, Genetics, Fragile X Spectrum +7

Biallelic MFSD2A variants associated with congenital microcephaly, developmental delay, and recognizable neuroimaging features

Marcello Scala, Geok Lin Chua, Cheen Fei Chin et al. · European Journal of Human Genetics · 2020 · 33 citations · Full text

Biallelic Mfsd2a Variants, Developmental Anomaly, Developmental Biology +10

Ataxia with Oculomotor Apraxia Type 4 with PNKP Common “Portuguese” and Novel Mutations in Two Belarusian Families

G. E. Rudenskaya, Andrey V. Marakhonov, Olga Shchagina et al. · Journal of Pediatric Genetics · 2019 · 19 citations · Full text