Perrine Pennamen

CRISPR-Cas9 genome editing induces megabase-scale chromosomal truncations

Grégoire Cullot, Julian Boutin, Jérôme Toutain et al. · Nature Communications · 2019 · 458 citations · Full text

Molecular characterization of a series of 990 index patients with albinism

Eulalie Lasseaux, Claudio Plaisant, Vincent Michaud et al. · Pigment Cell & Melanoma Research · 2018 · 143 citations

Human interleukin-2 receptor β mutations associated with defects in immunity and peripheral tolerance

Zinan Zhang, Florian Gothe, Perrine Pennamen et al. · The Journal of Experimental Medicine · 2019 · 88 citations · Full text

CRISPR-Cas9 globin editing can induce megabase-scale copy-neutral losses of heterozygosity in hematopoietic cells

Julian Boutin, Juliette Rosier, David Cappellen et al. · Nature Communications · 2021 · 83 citations · Full text

BLOC1S5 pathogenic variants cause a new type of Hermansky–Pudlak syndrome

Perrine Pennamen, Linh Le, Angèle Tingaud‐Sequeira et al. · Genetics in Medicine · 2020 · 76 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +6