C. Bosso-Lefèvre

Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy

R. Pfundt, Adam Claridge‐Chang, B. Venkatesh, 2020, Nature Communications.

RSPO2 inhibition of RNF43 and ZNRF3 governs limb development independently of LGR4/5/6

H. Kayserili, N. Barker, C. Bénéteau, 2018, Nature.

Singapore Undiagnosed Disease Program: Genomic Analysis aids Diagnosis and Clinical Management

B. Venkatesh, Kanika Jain, S. Jamuar, 2020, Archives of Disease in Childhood.

Sushi domain-containing protein 4 controls synaptic plasticity and motor learning

J. Bessereau, L. Rondi-Reig, A. Triller, 2021, eLife.

SUSD4 controls GLUA2 degradation, synaptic plasticity and motor learning

J. Bessereau, L. Rondi-Reig, A. Triller, 2020, bioRxiv.

RSPO2 inhibition of RNF43 and ZNRF3 governs limb development independently of LGR4/5/6

H. Kayserili, N. Barker, C. Bénéteau, 2018, Nature.