Alice Goldenberg

Germline deletion of the miR-17∼92 cluster causes skeletal and growth defects in humans

Loïc de Pontual, Evelyn Yao, Patrick Callier et al. · Nature Genetics · 2011 · 306 citations · Full text

Developmental Biology, Growth Defects, Human Growth +9

Antenatal manifestations of mitochondrial respiratory chain deficiency

Jürgen‐Christoph von Kleist-Retzow, Valérie Cormier‐Daire, Géraldine Viot et al. · The Journal of Pediatrics · 2003 · 133 citations

Mitochondrial Biogenesis, Mitochondrial Function, Physiology +6

Genotyping microsatellite DNA markers at putative disease loci in inbred/multiplex families with respiratory chain complex I deficiency allows rapid identification of a novel nonsense mutation (IVS1nt −1) in the NDUFS4 gene in Leigh syndrome

Paule Bénit, Julie Steffann, Sophie Lebon et al. · Human Genetics · 2003 · 58 citations

Genetic Analysis, Mendelian Disorder, Genetic Disorder +13

Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations

Sandra Mercier, Sébastien Küry, Emmanuelle Salort‐Campana et al. · Orphanet Journal of Rare Diseases · 2015 · 48 citations · Full text

Respiratory chain deficiency presenting as congenital nephrotic syndrome

Alice Goldenberg, Linh Huynh Ngoc, Marie-Christine Thouret et al. · Pediatric Nephrology · 2005 · 47 citations

Glomerulonephritis, Respiratory Chain Deficiency, Genetic Disorder +6