Marlène Rio

Erratum: Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome (The American Journal of Human Genetics (2017) 101(2) (239–254) (S0002929717302835) (10.1016/j.ajhg.2017.07.005))

Eric E. Schadt, Nathalie Boddaert, Aleksandra Filipovska, 2018 .

MED23 Mutation Links Intellectual Disability to Dysregulation of Immediate Early Gene Expression

Arnold Munnich, A. Munnich, J. Egly, 2011, Science.

A nonsense variant in HERC1 is associated with intellectual disability, megalencephaly, thick corpus callosum and cerebellar atrophy

Sébastien Moutton, Nathalie Boddaert, Lam Son Nguyen, 2015, European Journal of Human Genetics.

Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies.

Arnold Munnich, Aleksandra Filipovska, Patrick F Chinnery, 2016, American journal of human genetics.

Mutations in Complex I Assembly Factor TMEM126B Result in Muscle Weakness and Isolated Complex I Deficiency.

Ulrich Brandt, Sergio Guerrero-Castillo, Benoît Funalot, 2016, American journal of human genetics.

Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype–phenotype relationships and overlap with Costello syndrome

Yoichi Matsubara, Alain Verloes, Alice Goldenberg, 2007, Journal of Medical Genetics.

NONO Detects the Nuclear HIV Capsid to Promote cGAS-Mediated Innate Immune Activation

Matteo Gentili, Charles S. Bond, Francesca Nadalin, 2018, Cell.

Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies

Arnold Munnich, Aleksandra Filipovska, Patrick F Chinnery, 2016, American journal of human genetics.