Oriane Mercati

PRPS1 loss-of-function variants, from isolated hearing loss to severe congenital encephalopathy: New cases and literature review.

A. Munnich, H. Prokisch, N. Boddaert, 2020, European journal of medical genetics.

Genetic and Functional Analyses of SHANK2 Mutations Suggest a Multiple Hit Model of Autism Spectrum Disorders

Elodie Ey, Thomas Bourgeron, Roberto Toro, 2012, PLoS genetics.

Limited benefits of presymptomatic cord blood transplantation in neurovisceral acid sphingomyelinase deficiency (ASMD) intermediate type.

Y. Bertrand, R. Froissart, M. Schiff, 2017, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

CNTN6 mutations are risk factors for abnormal auditory sensory perception in autism spectrum disorders

T. Bourgeron, R. Delorme, R. Yuen, 2016, Molecular Psychiatry.

Contactin 4, -5 and -6 differentially regulate neuritogenesis while they display identical PTPRG binding sites

T. Bourgeron, F. de Chaumont, A. Danckaert, 2013, Biology Open.

CNTN6 mutations are risk factors for abnormal auditory sensory perception in autism spectrum disorders

T. Bourgeron, R. Delorme, C. Gillberg, 2016, Molecular Psychiatry.

Identification of Pathway-Biased and Deleterious Melatonin Receptor Mutants in Autism Spectrum Disorders and in the General Population

T. Bourgeron, R. Delorme, C. Gillberg, 2010, PloS one.

FDXR Mutations Cause Sensorial Neuropathies and Expand the Spectrum of Mitochondrial Fe-S-Synthesis Diseases.

Olivier Sterkers, Fanny Mochel, Patrick Nitschke, 2017, American journal of human genetics.