Germaine Pierre

Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies

René G. Feichtinger, Monika Oláhová, Yoshihito Kishita et al. · The American Journal of Human Genetics · 2017 · 85 citations · Full text

Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?

Birgit Repp, Elisa Mastantuono, Charlotte L. Alston et al. · Orphanet Journal of Rare Diseases · 2018 · 79 citations · Full text

MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant Load

Yi Shiau Ng, Nichola Z. Lax, Paul Maddison et al. · EBioMedicine · 2018 · 65 citations · Full text

Prospective treatment of cerebrotendinous xanthomatosis with cholic acid therapy

Germaine Pierre, Kenneth D.R. Setchell, Jacqueline Blyth et al. · Journal of Inherited Metabolic Disease · 2008 · 55 citations

Clinical presentation and proteomic signature of patients with <i>TANGO2</i> mutations

Nadja Mingirulli, Angela Pyle, Denisa Hathazi et al. · Journal of Inherited Metabolic Disease · 2019 · 55 citations · Full text