SDH mutations establish a hypermethylator phenotype in paraganglioma E Letouzé, C Martinelli, C Loriot, N Burnichon, N Abermil, C Ottolenghi, ... Cancer cell 23 (6), 739-752, 2013 | 755 | 2013 |
Foxl2 disruption causes mouse ovarian failure by pervasive blockage of follicle development M Uda, C Ottolenghi, L Crisponi, JE Garcia, M Deiana, W Kimber, ... Human molecular genetics 13 (11), 1171-1181, 2004 | 617 | 2004 |
Foxl2 is required for commitment to ovary differentiation C Ottolenghi, S Omari, JE Garcia-Ortiz, M Uda, L Crisponi, A Forabosco, ... Human molecular genetics 14 (14), 2053-2062, 2005 | 380 | 2005 |
Loss of Wnt4 and Foxl2 leads to female-to-male sex reversal extending to germ cells C Ottolenghi, E Pelosi, J Tran, M Colombino, E Douglass, T Nedorezov, ... Human molecular genetics 16 (23), 2795-2804, 2007 | 354 | 2007 |
Cysteamine therapy delays the progression of nephropathic cystinosis in late adolescents and adults A Brodin-Sartorius, MJ Tête, P Niaudet, C Antignac, G Guest, C Ottolenghi, ... Kidney international 81 (2), 179-189, 2012 | 235 | 2012 |
Loss of succinate dehydrogenase activity results in dependency on pyruvate carboxylation for cellular anabolism C Lussey-Lepoutre, KER Hollinshead, C Ludwig, M Menara, A Morin, ... Nature communications 6 (1), 8784, 2015 | 217 | 2015 |
Demographic history of India and mtDNA-sequence diversity. JL Mountain, JM Hebert, S Bhattacharyya, PA Underhill, C Ottolenghi, ... American journal of human genetics 56 (4), 979, 1995 | 203 | 1995 |
Serum 2-Hydroxyglutarate Production in IDH1- and IDH2-Mutated De Novo Acute Myeloid Leukemia: A Study by the Acute Leukemia French Association Group M Janin, E Mylonas, V Saada, JB Micol, A Renneville, C Quivoron, ... Journal of Clinical Oncology 32 (4), 297-305, 2014 | 160 | 2014 |
Foxl2functions in sex determination and histogenesis throughout mouse ovary development JE Garcia-Ortiz, E Pelosi, S Omari, T Nedorezov, Y Piao, J Karmazin, ... BMC developmental biology 9, 1-21, 2009 | 154 | 2009 |
Novel paralogy relations among human chromosomes support a link between the phylogeny of doublesex-related genes and the evolution of sex determination C Ottolenghi, M Fellous, M Barbieri, K McElreavey Genomics 79 (3), 333-343, 2002 | 131 | 2002 |
Natural history of Barth syndrome: a national cohort study of 22 patients C Rigaud, AS Lebre, R Touraine, B Beaupain, C Ottolenghi, A Chabli, ... Orphanet journal of rare diseases 8, 1-13, 2013 | 129 | 2013 |
Successful treatment of severe cardiomyopathy in glycogen storage disease type III With D, L-3-hydroxybutyrate, ketogenic and high-protein diet V Valayannopoulos, F Bajolle, JB Arnoux, S Dubois, N Sannier, ... Pediatric Research 70 (6), 638-641, 2011 | 124 | 2011 |
Germline Mutations in the Mitochondrial 2-Oxoglutarate/Malate Carrier SLC25A11 Gene Confer a Predisposition to Metastatic Paragangliomas A Buffet, A Morin, LJ Castro-Vega, F Habarou, C Lussey-Lepoutre, ... Cancer Research 78 (8), 1914-1922, 2018 | 120 | 2018 |
Constitutively active Foxo3 in oocytes preserves ovarian reserve in mice E Pelosi, S Omari, M Michel, J Ding, T Amano, A Forabosco, ... Nature communications 4 (1), 1843, 2013 | 113 | 2013 |
CIC inactivating mutations identify aggressive subset of 1p19q codeleted gliomas V Gleize, A Alentorn, L Connen de Kérillis, M Labussière, ... Annals of neurology 78 (3), 355-374, 2015 | 109 | 2015 |
The region on 9p associated with 46, XY sex reversal contains several transcripts expressed in the urogenital system and a novel doublesex-related domain C Ottolenghi, R Veitia, L Quintana-Murci, D Torchard, L Scapoli, ... Genomics 64 (2), 170-178, 2000 | 109 | 2000 |
Aging of oocyte, ovary, and human reproduction C Ottolenghi, M Uda, T Hamatani, L Crisponi, JE GARCIA, M Ko, G Pilia, ... Annals of the New York Academy of Sciences 1034 (1), 117-131, 2004 | 108 | 2004 |
Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia M Coutelier, C Goizet, A Durr, F Habarou, S Morais, A Dionne-Laporte, ... Brain 138 (8), 2191-2205, 2015 | 102 | 2015 |
Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia M Coutelier, C Goizet, A Durr, F Habarou, S Morais, A Dionne-Laporte, ... Brain 138 (8), 2191-2205, 2015 | 102 | 2015 |
Long-term neurological outcome of a cohort of 80 patients with classical organic acidurias M Nizon, C Ottolenghi, V Valayannopoulos, JB Arnoux, V Barbier, ... Orphanet journal of rare diseases 8, 1-12, 2013 | 96 | 2013 |