PubRank

Dominique Bonneau

Author PubWeight™ 103.57‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome. Nat Genet 2006 3.69
2 OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes. Brain 2007 3.35
3 BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus. Nat Genet 2006 2.68
4 Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders. PLoS Genet 2012 2.65
5 Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus. Nature 2011 2.59
6 Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome. Am J Hum Genet 2006 2.44
7 Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly. Nat Genet 2013 2.06
8 Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation. Hum Mutat 2004 1.76
9 Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutations. Hum Mutat 2009 1.67
10 Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis. Orphanet J Rare Dis 2011 1.57
11 Heterozygous OPA1 mutations in Behr syndrome. Brain 2010 1.57
12 High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome. J Med Genet 2013 1.50
13 Molecular and in silico analyses of the full-length isoform of usherin identify new pathogenic alleles in Usher type II patients. Hum Mutat 2007 1.48
14 Enrichment of LOVD-USHbases with 152 USH2A genotypes defines an extensive mutational spectrum and highlights missense hotspots. Hum Mutat 2014 1.45
15 OPA1-associated disorders: phenotypes and pathophysiology. Int J Biochem Cell Biol 2009 1.40
16 Mitochondrial dynamics and disease, OPA1. Biochim Biophys Acta 2006 1.35
17 Hereditary optic neuropathies share a common mitochondrial coupling defect. Ann Neurol 2008 1.33
18 Effects of OPA1 mutations on mitochondrial morphology and apoptosis: relevance to ADOA pathogenesis. J Cell Physiol 2007 1.30
19 Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohort. Eur J Hum Genet 2005 1.28
20 Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness. Am J Hum Genet 2012 1.25
21 A large-scale mutation search reveals genetic heterogeneity in 3M syndrome. Eur J Hum Genet 2008 1.19
22 Schimke immunoosseous dysplasia: suggestions of genetic diversity. Hum Mutat 2007 1.19
23 OPA1 R445H mutation in optic atrophy associated with sensorineural deafness. Ann Neurol 2005 1.18
24 Heterozygosity for a single mutation in the ABCC6 gene may closely mimic PXE: consequences of this phenotype overlap for the definition of PXE. Arch Dermatol 2008 1.17
25 Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies. Brain 2012 1.17
26 Mitochondrial coupling defect in Charcot-Marie-Tooth type 2A disease. Ann Neurol 2007 1.13
27 Mitochondrial dysfunction and pathophysiology of Charcot-Marie-Tooth disease involving GDAP1 mutations. Exp Neurol 2010 1.12
28 Dominant optic atrophy. Orphanet J Rare Dis 2012 1.11
29 Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects. Hum Mol Genet 2013 1.06
30 Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesis. Hum Mutat 2011 1.06
31 Perrault syndrome: report of four new cases, review and exclusion of candidate genes. Am J Med Genet A 2008 1.04
32 Four-year follow-up of diagnostic service in USH1 patients. Invest Ophthalmol Vis Sci 2011 1.03
33 Identification of gene copy number variations in patients with mental retardation using array-CGH: Novel syndromes in a large French series. Eur J Med Genet 2009 1.02
34 Heterogeneity of NSD1 alterations in 116 patients with Sotos syndrome. Hum Mutat 2007 1.01
35 Macrocephaly-cutis marmorata telangiectatica congenita: seven cases including two with unusual cerebral manifestations. Am J Med Genet A 2004 1.01
36 Modafinil-induced modulation of working memory and plasma corticosterone in chronically-stressed mice. Pharmacol Biochem Behav 2006 1.00
37 Fourteen novel OPA1 mutations in autosomal dominant optic atrophy including two de novo mutations in sporadic optic atrophy. Hum Mutat 2003 0.99
38 Resveratrol induces a mitochondrial complex I-dependent increase in NADH oxidation responsible for sirtuin activation in liver cells. J Biol Chem 2013 0.98
39 Pitfalls of homozygosity mapping: an extended consanguineous Bardet-Biedl syndrome family with two mutant genes (BBS2, BBS10), three mutations, but no triallelism. Eur J Hum Genet 2006 0.98
40 Mutation screening of the EYA1, SIX1, and SIX5 genes in a large cohort of patients harboring branchio-oto-renal syndrome calls into question the pathogenic role of SIX5 mutations. Hum Mutat 2011 0.96
41 USH1A: chronicle of a slow death. Am J Hum Genet 2006 0.96
42 Rare primary mitochondrial DNA mutations and probable synergistic variants in Leber's hereditary optic neuropathy. PLoS One 2012 0.96
43 Prenatal diagnosis of primary anophthalmia with a 3q27 interstitial deletion involving SOX2. Prenat Diagn 2004 0.96
44 Decrease in serum leptin after prolonged physical activity in men. Med Sci Sports Exerc 2002 0.96
45 Schimke immunoosseous dysplasia: defining skeletal features. Eur J Pediatr 2009 0.95
46 Combination of WAGR and Potocki-Shaffer contiguous deletion syndromes in a patient with an 11p11.2-p14 deletion. Eur J Hum Genet 2005 0.94
47 BBS8 is rarely mutated in a cohort of 128 Bardet-Biedl syndrome families. J Hum Genet 2005 0.93
48 Reversible optic neuropathy with OPA1 exon 5b mutation. Ann Neurol 2008 0.93
49 Effect of single and multiple courses of prenatal corticosteroids on 17-hydroxyprogesterone levels: implication for neonatal screening of congenital adrenal hyperplasia. Pediatr Res 2004 0.92
50 Papilloedema and MRI enhancement of the prechiasmal optic nerve at the acute stage of Leber hereditary optic neuropathy. J Neurol Neurosurg Psychiatry 2010 0.91
51 Eight previously unidentified mutations found in the OA1 ocular albinism gene. BMC Med Genet 2006 0.90
52 Allelic loss on chromosomes 2q21 and 19p 13.2 in oxyphilic thyroid tumors. Int J Cancer 2004 0.90
53 The association of autosomal dominant optic atrophy and moderate deafness may be due to the R445H mutation in the OPA1 gene. Am J Ophthalmol 2003 0.90
54 Bioenergetic defect associated with mKATP channel opening in a mouse model carrying a mitofusin 2 mutation. FASEB J 2011 0.89
55 Mitochondrial complex I deficiency in GDAP1-related autosomal dominant Charcot-Marie-Tooth disease (CMT2K). Neurogenetics 2008 0.89
56 Thrombocytopenia-absent radius (TAR) syndrome: a clinical genetic series of 14 further cases. impact of the associated 1q21.1 deletion on the genetic counselling. Eur J Med Genet 2011 0.89
57 Genetically determined optic neuropathies. Curr Opin Neurol 2010 0.89
58 Metabolically induced heteroplasmy shifting and l-arginine treatment reduce the energetic defect in a neuronal-like model of MELAS. Biochim Biophys Acta 2012 0.89
59 Hereditary spastic paraplegia-like disorder due to a mitochondrial ATP6 gene point mutation. Mitochondrion 2010 0.88
60 Relative frequencies of inherited retinal dystrophies and optic neuropathies in Southern France: assessment of 21-year data management. Ophthalmic Epidemiol 2013 0.86
61 Improved locus-specific database for OPA1 mutations allows inclusion of advanced clinical data. Hum Mutat 2014 0.85
62 A locus-specific database for mutations in GDAP1 allows analysis of genotype-phenotype correlations in Charcot-Marie-Tooth diseases type 4A and 2K. Orphanet J Rare Dis 2011 0.85
63 Molecular diagnosis reveals genetic heterogeneity for the overlapping MKKS and BBS phenotypes. Eur J Med Genet 2010 0.85
64 Phenotypic spectrum of Simpson-Golabi-Behmel syndrome in a series of 42 cases with a mutation in GPC3 and review of the literature. Am J Med Genet C Semin Med Genet 2013 0.85
65 Sensorineural hearing loss in OPA1-linked disorders. Brain 2013 0.84
66 Adenine nucleotide translocase is involved in a mitochondrial coupling defect in MFN2-related Charcot-Marie-Tooth type 2A disease. Neurogenetics 2009 0.84
67 Reduced elastogenesis: a clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia? Orphanet J Rare Dis 2012 0.84
68 Standardized mitochondrial analysis gives new insights into mitochondrial dynamics and OPA1 function. Int J Biochem Cell Biol 2012 0.84
69 Retinal angioma in a patient with Cowden disease. Am J Ophthalmol 2003 0.84
70 Colorectal adenomatous polyposis Associated with MYH mutations: genotype and phenotype characteristics. Dis Colon Rectum 2007 0.83
71 Search for the best indicators for the presence of a VPS13B gene mutation and confirmation of diagnostic criteria in a series of 34 patients genotyped for suspected Cohen syndrome. J Med Genet 2010 0.83
72 Idebenone increases mitochondrial complex I activity in fibroblasts from LHON patients while producing contradictory effects on respiration. BMC Res Notes 2011 0.82
73 Axenfeld-Rieger anomaly: a novel mutation in the forkhead box C1 (FOXC1) gene in a 4-generation family. Arch Ophthalmol 2004 0.82
74 Acute and late-onset optic atrophy due to a novel OPA1 mutation leading to a mitochondrial coupling defect. Mol Vis 2009 0.82
75 Ethambutol-induced optic neuropathy linked to OPA1 mutation and mitochondrial toxicity. Mitochondrion 2009 0.81
76 Never too old to harbour a young man's disease? Br J Ophthalmol 2011 0.81
77 Comparison of methods to assess quadriceps muscle volume using magnetic resonance imaging. J Magn Reson Imaging 2009 0.81
78 Microchimerism from a dizygotic twin in juvenile ulcerative lichen planus. Lancet 2002 0.80
79 Prenatal diagnosis of CHARGE syndrome by identification of a novel CHD7 mutation in a previously unaffected family. Prenat Diagn 2012 0.79
80 Molecular cytogenetic characterization of terminal 14q32 deletions in two children with an abnormal phenotype and corpus callosum hypoplasia. Eur J Hum Genet 2008 0.79
81 Carotid artery dissection in an adult with the Simpson-Golabi-Behmel syndrome. Am J Med Genet A 2008 0.79
82 [Bardet-Biedl syndrome: a unique family for a major gene (BBS10)]. Med Sci (Paris) 2006 0.79
83 Childhood dermatosis due to microchimerism. Dermatology 2005 0.79
84 Arithmetic word-problem-solving in Huntington's disease. Brain Cogn 2005 0.78
85 Refsum's disease may mimic familial Guillain Barre syndrome. Neuromuscul Disord 2006 0.78
86 Absence of Lisch nodules in sporadic neurofibromatosis type 1 may reflect somatic mosaicism. Arch Dermatol 2002 0.78
87 Intellectual disability associated with retinal dystrophy in the Xp11.3 deletion syndrome: ZNF674 on trial. Guilty or innocent? Eur J Hum Genet 2011 0.77
88 Absence of deletion at the SOX2 locus in a case of microphthalmia and esophageal atresia. Am J Med Genet A 2004 0.77
89 Non-invasive biomechanical characterization of intervertebral discs by shear wave ultrasound elastography: a feasibility study. Eur Radiol 2014 0.77
90 Leptin, catecholamines and free fatty acids related to reduced recovery delays after training. Eur J Appl Physiol 2004 0.77
91 The neural substrates of script knowledge deficits as revealed by a PET study in Huntington's disease. Neuropsychologia 2011 0.76
92 A de novo germline MLH1 mutation in a Lynch syndrome patient with discordant immunohistochemical and molecular biology test results. World J Gastroenterol 2012 0.75
93 A phase II, open-label evaluation of cysteamine tolerability in patients with Huntington's disease. Mov Disord 2014 0.75
94 Is ABCC6 a genuine mitochondrial protein? BMC Res Notes 2013 0.75
95 Pitfalls in clinical diagnosis of female carriers of X-linked hypohidrotic ectodermal dysplasia. Arch Dermatol 2002 0.75
96 External and internal geometry of European adults. Ergonomics 2006 0.75
97 De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder. Am J Hum Genet 2017 0.75
98 Refined genetic mapping of autosomal recessive chronic distal spinal muscular atrophy to chromosome 11q13.3 and evidence of linkage disequilibrium in European families. Eur J Hum Genet 2004 0.75
99 Extensive Mongolian spots in 4p16.3 deletion (Wolf-Hirschhorn syndrome). Clin Dysmorphol 2014 0.75
100 [From yeast to neurodegenerative diseases: ten years of exploration of mitochondrial dynamic disorders]. Med Sci (Paris) 2010 0.75
101 Psychostimulants and G tolerance in rhesus monkeys: effects of oral modafinil and injected caffeine. Aviat Space Environ Med 2005 0.75
102 Study on cervical muscle volume by means of three-dimensional reconstruction. J Magn Reson Imaging 2013 0.75