| Interleukin-36–receptor antagonist deficiency and generalized pustular psoriasis S Marrakchi, P Guigue, BR Renshaw, A Puel, XY Pei, S Fraitag, J Zribi, ... New England Journal of Medicine 365 (7), 620-628, 2011 | 1046 | 2011 |
| Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion A Bourdon, L Minai, V Serre, JP Jais, E Sarzi, S Aubert, D Chrétien, ... Nature genetics 39 (6), 776-780, 2007 | 611 | 2007 |
| A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvement S Bannwarth, S Ait-El-Mkadem, A Chaussenot, EC Genin, ... Brain 137 (8), 2329-2345, 2014 | 522 | 2014 |
| CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures J Mollet, A Delahodde, V Serre, D Chretien, D Schlemmer, A Lombes, ... The American Journal of Human Genetics 82 (3), 623-630, 2008 | 331 | 2008 |
| DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III N Dagoneau, M Goulet, D Geneviève, Y Sznajer, J Martinovic, S Smithson, ... The American Journal of Human Genetics 84 (5), 706-711, 2009 | 257 | 2009 |
| Twinkle helicase (PEO1) gene mutation causes mitochondrial DNA depletion E Sarzi, S Goffart, V Serre, D Chrétien, A Slama, A Munnich, JN Spelbrink, ... Annals of Neurology: Official Journal of the American Neurological …, 2007 | 203 | 2007 |
| Exome sequencing identifies MRPL3 mutation in mitochondrial cardiomyopathy L Galmiche, V Serre, M Beinat, Z Assouline, AS Lebre, D Chretien, ... Human mutation 32 (11), 1225-1231, 2011 | 164 | 2011 |
| Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome C Le Goff, C Mahaut, A Abhyankar, W Le Goff, V Serre, A Afenjar, ... Nature genetics 44 (1), 85-88, 2012 | 157 | 2012 |
| Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy I Perrault, S Hanein, X Zanlonghi, V Serre, M Nicouleau, ... Nature genetics 44 (9), 975-977, 2012 | 154 | 2012 |
| Riboflavin-responsive oxidative phosphorylation complex I deficiency caused by defective ACAD9: new function for an old gene M Gerards, BJC Van Den Bosch, K Danhauser, V Serre, M van Weeghel, ... Brain 134 (1), 210-219, 2011 | 138 | 2011 |
| Description of a Large Family with Autosomal Dominant Hypercholesterolemia Associated with the APOE p.Leu167del Mutation M Marduel, K Ouguerram, V Serre, D Bonnefont‐Rousselot, ... Human mutation 34 (1), 83-87, 2013 | 137 | 2013 |
| Screening of CHCHD10 in a French cohort confirms the involvement of this gene in frontotemporal dementia with amyotrophic lateral sclerosis patients A Chaussenot, I Le Ber, S Ait-El-Mkadem, A Camuzat, A de Septenville, ... Neurobiology of aging 35 (12), 2884. e1-2884. e4, 2014 | 117 | 2014 |
| ALDH1A3 mutations cause recessive anophthalmia and microphthalmia L Fares-Taie, S Gerber, N Chassaing, J Clayton-Smith, S Hanein, E Silva, ... The American Journal of Human Genetics 92 (2), 265-270, 2013 | 110 | 2013 |
| TMEM126A, encoding a mitochondrial protein, is mutated in autosomal-recessive nonsyndromic optic atrophy S Hanein, I Perrault, O Roche, S Gerber, N Khadom, M Rio, N Boddaert, ... The American Journal of Human Genetics 84 (4), 493-498, 2009 | 109 | 2009 |
| Mutation in PNPT1, which encodes a polyribonucleotide nucleotidyltransferase, impairs RNA import into mitochondria and causes respiratory-chain deficiency V Vedrenne, A Gowher, P De Lonlay, P Nitschke, V Serre, N Boddaert, ... The American Journal of Human Genetics 91 (5), 912-918, 2012 | 102 | 2012 |
| Mutations in mitochondrial ribosomal protein MRPL12 leads to growth retardation, neurological deterioration and mitochondrial translation deficiency V Serre, A Rozanska, M Beinat, D Chretien, N Boddaert, A Munnich, ... Biochimica et Biophysica Acta (BBA)-Molecular Basis of Disease 1832 (8 …, 2013 | 99 | 2013 |
| WDR34 mutations that cause short-rib polydactyly syndrome type III/severe asphyxiating thoracic dysplasia reveal a role for the NF-κB pathway in cilia C Huber, S Wu, AS Kim, S Sigaudy, A Sarukhanov, V Serre, G Baujat, ... The American Journal of Human Genetics 93 (5), 926-931, 2013 | 95 | 2013 |
| Mutations in MDH2, encoding a Krebs cycle enzyme, cause early-onset severe encephalopathy S Ait-El-Mkadem, M Dayem-Quere, M Gusic, A Chaussenot, S Bannwarth, ... The American Journal of Human Genetics 100 (1), 151-159, 2017 | 82 | 2017 |
| Impaired transferrin receptor palmitoylation and recycling in neurodegeneration with brain iron accumulation A Drecourt, J Babdor, M Dussiot, F Petit, N Goudin, M Garfa-Traoré, ... The American Journal of Human Genetics 102 (2), 266-277, 2018 | 79 | 2018 |
| Thromboxane synthase mutations in an increased bone density disorder (Ghosal syndrome) D Genevieve, V Proulle, B Isidor, S Bellais, V Serre, F Djouadi, C Picard, ... Nature genetics 40 (3), 284-286, 2008 | 73 | 2008 |
alexis briceICMVerified email at icm-institute.org
