J. Rucci

X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes

K. Friend, M. Shaw, E. Haan, 2015, Molecular Psychiatry.

Hypoxia Regulates Lymphoid Development of Human Hematopoietic Progenitors.

M. Arcangeli, I. Naguibneva, F. Pflumio, 2019, Cell reports.

OCRL-mutated fibroblasts from patients with Dent-2 disease exhibit INPP5B-independent phenotypic variability relatively to Lowe syndrome cells.

R. Salomon, P. Billuart, J. Rendu, 2015, Human molecular genetics.

Supplementary information Ptchd 1 deficiency induces exciatory synaptic and cognitive dysfunctions in mouse

J. Vincent, Y. Hérault, H. Meziane, 2017 .

Ptchd1 deficiency induces excitatory synaptic and cognitive dysfunctions in mouse

J. Vincent, Y. Hérault, H. Meziane, 2017, Molecular Psychiatry.

Beta tubulin isoforms are not interchangeable for rescuing impaired radial migration due to Tubb3 knockdown.

N. Lebrun, J. Chelly, Loïc Broix, 2014, Human molecular genetics.