Elena Buglo

Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia

Andrea Cortese, Roberto Simone, Roisin Sullivan et al. · Nature Genetics · 2019 · 564 citations · Full text

Biallelic Expansion, Neurological Disorder, Genetic Disorder +5

Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes

Andrea Cortese, Yi Zhu, Adriana Rebelo et al. · Nature Genetics · 2020 · 170 citations · Full text

Biallelic Mutations, Somatic Variant, Genetic Disorder +9

Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2

Petra Laššuthová, Adriana Rebelo, Gianina Ravenscroft et al. · The American Journal of Human Genetics · 2018 · 76 citations · Full text

Genome Instability, Molecular Physiology, Genetic Disorder +4

Genetic compensation in a stable slc25a46 mutant zebrafish: A case for using F0 CRISPR mutagenesis to study phenotypes caused by inherited disease

Elena Buglo, Evan Sarmiento, Nicole Belliard Martuscelli et al. · PLoS ONE · 2020 · 66 citations · Full text

Engineering, Genetics, Slc25a46 Gene +20

Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia

Mohammad Ali Farazi Fard, Adriana Rebelo, Elena Buglo et al. · The American Journal of Human Genetics · 2019 · 60 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +4