CRISPR-Cas9 genome editing induces megabase-scale chromosomal truncations

Grégoire Cullot, Julian Boutin, Jérôme Toutain, +17

Nature Communications

Molecular characterization of a series of 990 index patients with albinism

Eulalie Lasseaux, Claudio Plaisant, Vincent Michaud, +8

Pigment Cell & Melanoma Research

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

Zinan Zhang, Florian Gothe, Perrine Pennamen, +25

The Journal of Experimental Medicine

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

Julian Boutin, Juliette Rosier, David Cappellen, +16

Nature Communications

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

Perrine Pennamen, Linh Le, Angèle Tingaud‐Sequeira, +16

Genetics in Medicine

Mendelian DisorderGenetic DisorderGeneticsPathogenesisPathology +4

Dopachrome tautomerase variants in patients with oculocutaneous albinism

Perrine Pennamen, Angèle Tingaud‐Sequeira, Iveta Gažová, +13

Genetics in Medicine

Dopachrome Tautomerase VariantsTranslational ResearchPharmacotherapyMedicineHuman Pathology

Mild form of oculocutaneous albinism type 1: phenotypic analysis of compound heterozygous patients with the R402Q variant of the <i>TYR</i> gene

Solène Monfermé, Eulalie Lasseaux, Catherine Duncombe-Poulet, +15

British Journal of Ophthalmology

Cell cycle arrest and p53 prevent ON-target megabase-scale rearrangements induced by CRISPR-Cas9

Grégoire Cullot, Julian Boutin, Sabrina Fayet, +17

Nature Communications

SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability

Elke Bogaert, Aurore Garde, Thierry Gautier, +61

The American Journal of Human Genetics

Expanding the genotypic and phenotypic spectrum of severe serine biosynthesis disorders

Fatima Abdelfattah, Ariana Kariminejad, Anne‐Karin Kahlert, +26

Human Mutation

Rare DiseasesMendelian DisorderSerine Biosynthesis DisordersGenetic DisorderGenetics +12