Elena Buena‐Atienza

Efficient hybrid de novo assembly of human genomes with WENGAN

Alex Di Genova, Elena Buena‐Atienza, Stephan Ossowski et al. · Nature Biotechnology · 2020 · 91 citations · Full text

Life Sciences, Bioinformatics, Biology +15

Retinitis pigmentosa: impact of different<i>Pde6a</i>point mutations on the disease phenotype

Vithiyanjali Sothilingam, Marina Garcia Garrido, Kangwei Jiao et al. · Human Molecular Genetics · 2015 · 49 citations · Full text

Medicine, Genetics, Molecular Genetics +17

A GGC-repeat expansion in ZFHX3 encoding polyglycine causes spinocerebellar ataxia type 4 and impairs autophagy

Karla P. Figueroa, Elena Buena‐Atienza, Sharan Paul et al. · Nature Genetics · 2024 · 48 citations

Life Sciences, Genetics, Molecular Genetics +12

The European Reference Genome Atlas: piloting a decentralised approach to equitable biodiversity genomics

Ann M. Mc Cartney, Giulio Formenti, Alice Mouton et al. · npj Biodiversity · 2024 · 45 citations · Full text

Life Sciences, Biology, Genetics +16

De novo intrachromosomal gene conversion from OPN1MW to OPN1LW in the male germline results in Blue Cone Monochromacy

Elena Buena‐Atienza, Klaus Rüther, Britta Baumann et al. · Scientific Reports · 2016 · 38 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16