Christelle Cabrol

Convergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders

Dalila Pinto, Elsa Delaby, Daniele Merico et al. · The American Journal of Human Genetics · 2014 · 1K citations · Full text

Mutations in GREB1L Cause Bilateral Kidney Agenesis in Humans and Mice

Lara De Tomasi, Pierre David, Camille Humbert et al. · The American Journal of Human Genetics · 2017 · 113 citations · Full text

Urology, Developmental Biology, Medicine +7

Genetic landscape of a large cohort of Primary Ovarian Insufficiency: New genes and pathways and implications for personalized medicine

Abdelkader Heddar, Sabrina Corrêa da Costa, Inès Braham et al. · EBioMedicine · 2022 · 83 citations · Full text

Loss of function of KIAA2022 causes mild to severe intellectual disability with an autism spectrum disorder and impairs neurite outgrowth

Lionel Van Maldergem, Qingming Hou, Vera M. Kalscheuer et al. · Human Molecular Genetics · 2013 · 78 citations · Full text

Genetics, Genetic Epidemiology, Pathology +32

Small-Molecule Activators of Insulin-Degrading Enzyme Discovered through High-Throughput Compound Screening

Christelle Cabrol, Malwina Huzarska, Christopher Dinolfo et al. · PLoS ONE · 2009 · 77 citations · Full text