Noman Kadhom

Loss-of-Function Mutation in the Dioxygenase-Encoding FTO Gene Causes Severe Growth Retardation and Multiple Malformations

Sarah Boissel, Orit Reish, Karine Proulx et al. · The American Journal of Human Genetics · 2009 · 401 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

Quinone-responsive multiple respiratory-chain dysfunction due to widespread coenzyme Q10 deficiency

Agnès Rötig, Eeva‐Liisa Appelkvist, Vanna Géromel et al. · The Lancet · 2000 · 357 citations

Life Sciences, Biochemistry, Physiology +12

A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure

Pascale de Lonlay, Isabelle Valnot, Antoni Barrientos et al. · Nature Genetics · 2001 · 318 citations

Life Sciences, Genetics, Molecular Biology +14

Impaired Mitochondrial Glutamate Transport in Autosomal Recessive Neonatal Myoclonic Epilepsy

Florence Molinari, Annick Raas‐Rothschild, Marlène Rio et al. · The American Journal of Human Genetics · 2005 · 158 citations · Full text

Medicine, Neurology, Neuroscience +14

Correlation between genotype, metabolic data, and clinical presentation in carnitine palmitoyltransferase 2 (CPT2) deficiency

Laure Thuillier, Hidayeth Rostane, Véronique Droin et al. · Human Mutation · 2003 · 109 citations

Life Sciences, Genetics, Molecular Genetics +17