Joanna Giemza

Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset Encephalopathy

Estelle Colin, Jens Daniel, Alban Ziegler et al. · The American Journal of Human Genetics · 2016 · 119 citations · Full text

Molecular Neuroscience, Mendelian Disorder, Biallelic Variants +11

Population structure of modern-day Italians reveals patterns of ancient and archaic ancestries in Southern Europe

Alessandro Raveane, Serena Aneli, Francesco Montinaro et al. · Science Advances · 2019 · 75 citations · Full text

Integrated clinical and omics approach to rare diseases: novel genes and oligogenic inheritance in holoprosencephaly

Artem Kim, Clara Savary, Christèle Dubourg et al. · Brain · 2018 · 57 citations · Full text

Oligogenic Inheritance, Genetics, Pathology +17

The genetic history of France

Aude Saint Pierre, Joanna Giemza, Isabel Alves et al. · European Journal of Human Genetics · 2020 · 26 citations · Full text

Medicine, Genetics, Evolutionary Biology +7

Transcription of intragenic CpG islands influences spatiotemporal host gene pre-mRNA processing

Samuele M. Amante, Bertille Montibus, Michael Cowley et al. · Nucleic Acids Research · 2020 · 17 citations · Full text

Histone Modifications, Epigenetic Change, Genetics +20