PubRank

Valérie Serre

Author PubWeight™ 35.25‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion. Nat Genet 2007 4.99
2 Interleukin-36-receptor antagonist deficiency and generalized pustular psoriasis. N Engl J Med 2011 2.93
3 Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome. Nat Genet 2011 2.52
4 DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III. Am J Hum Genet 2009 2.03
5 CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures. Am J Hum Genet 2008 1.86
6 Twinkle helicase (PEO1) gene mutation causes mitochondrial DNA depletion. Ann Neurol 2007 1.67
7 Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy. Nat Genet 2012 1.33
8 Exome sequencing identifies MRPL3 mutation in mitochondrial cardiomyopathy. Hum Mutat 2011 1.22
9 TMEM126A, encoding a mitochondrial protein, is mutated in autosomal-recessive nonsyndromic optic atrophy. Am J Hum Genet 2009 1.19
10 ALDH1A3 mutations cause recessive anophthalmia and microphthalmia. Am J Hum Genet 2013 1.12
11 Riboflavin-responsive oxidative phosphorylation complex I deficiency caused by defective ACAD9: new function for an old gene. Brain 2010 1.11
12 WDR34 mutations that cause short-rib polydactyly syndrome type III/severe asphyxiating thoracic dysplasia reveal a role for the NF-κB pathway in cilia. Am J Hum Genet 2013 0.99
13 Design, synthesis and activity of bisubstrate, transition-state analogues and competitive inhibitors of aspartate transcarbamylase. Eur J Med Chem 2004 0.96
14 Description of a large family with autosomal dominant hypercholesterolemia associated with the APOE p.Leu167del mutation. Hum Mutat 2012 0.94
15 Thromboxane synthase mutations in an increased bone density disorder (Ghosal syndrome). Nat Genet 2008 0.93
16 Mutation in PNPT1, which encodes a polyribonucleotide nucleotidyltransferase, impairs RNA import into mitochondria and causes respiratory-chain deficiency. Am J Hum Genet 2012 0.93
17 Structural insights on pathogenic effects of novel mutations causing pyruvate carboxylase deficiency. Hum Mutat 2009 0.91
18 Aromatic L-amino acid decarboxylase deficiency is a cause of long-fasting hypoglycemia. J Clin Endocrinol Metab 2013 0.88
19 Toward genotype phenotype correlations in GFM1 mutations. Mitochondrion 2011 0.87
20 Efficient synthesis of fluorothiosparfosic acid analogues with potential antitumoral activity. Bioorg Med Chem 2005 0.87
21 A neonatal polyvisceral failure linked to a de novo homoplasmic mutation in the mitochondrially encoded cytochrome b gene. Mitochondrion 2009 0.84
22 Thanatophoric dysplasia caused by double missense FGFR3 mutations. Am J Med Genet A 2009 0.83
23 New SUCLG1 patients expanding the phenotypic spectrum of this rare cause of mild methylmalonic aciduria. Mitochondrion 2010 0.82
24 Multiple sources of metabolic disturbance in ETHE1-related ethylmalonic encephalopathy. J Inherit Metab Dis 2010 0.81
25 A novel mutation of the NDUFS7 gene leads to activation of a cryptic exon and impaired assembly of mitochondrial complex I in a patient with Leigh syndrome. Mol Genet Metab 2007 0.81
26 [Adaptation of organisms to extreme conditions of deep-sea hydrothermal vents]. C R Biol 2006 0.79
27 TMEM126A is a mitochondrial located mRNA (MLR) protein of the mitochondrial inner membrane. Biochim Biophys Acta 2013 0.76