PubRank

Patrice Eydoux

Author PubWeight™ 22.08‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Oligonucleotide microarray analysis of genomic imbalance in children with mental retardation. Am J Hum Genet 2006 3.29
2 Assessment of algorithms for high throughput detection of genomic copy number variation in oligonucleotide microarray data. BMC Bioinformatics 2007 1.75
3 Mutations in EZH2 cause Weaver syndrome. Am J Hum Genet 2011 1.46
4 Novel deletions of 14q11.2 associated with developmental delay, cognitive impairment and similar minor anomalies in three children. J Med Genet 2007 1.28
5 A characteristic syndrome associated with microduplication of 8q12, inclusive of CHD7. Eur J Med Genet 2009 0.99
6 Detection of pathogenic copy number variants in children with idiopathic intellectual disability using 500 K SNP array genomic hybridization. BMC Genomics 2009 0.94
7 A 5-Mb microdeletion at 6q16.1-q16.3 with SIM gene deletion and obesity. Am J Med Genet A 2008 0.94
8 Possible differentiation of cerebral glioblastoma into pleomorphic xanthoastrocytoma: an unusual case in an infant. J Neurosurg Pediatr 2012 0.94
9 Using next-generation sequencing for the diagnosis of rare disorders: a family with retinitis pigmentosa and skeletal abnormalities. J Pathol 2011 0.94
10 Comparison of genome-wide array genomic hybridization platforms for the detection of copy number variants in idiopathic mental retardation. BMC Med Genomics 2011 0.88
11 A hemizygous SCO2 mutation in an early onset rapidly progressive, fatal cardiomyopathy. Mol Genet Metab 2006 0.86
12 Isolated non-compaction of the myocardium diagnosed in the fetus: two sporadic and two familial cases. Cardiol Young 2002 0.86
13 Craniosynostosis associated with distal 5q-trisomy: further evidence that extra copy of MSX2 gene leads to craniosynostosis. Am J Med Genet A 2007 0.84
14 A cryptic familial rearrangement of 11p15.5, involving both imprinting centers, in a family with a history of short stature. Am J Med Genet A 2014 0.81
15 A novel de novo 1.1 Mb duplication of 17q21.33 associated with cognitive impairment and other anomalies. Am J Med Genet A 2009 0.81
16 Somatic mosaicism for the p.His1047Arg mutation in PIK3CA in a girl with mesenteric lipomatosis. Am J Med Genet A 2014 0.80
17 Inverted duplication with terminal deletion of 5p and no cat-like cry. Am J Med Genet A 2008 0.80
18 Diffuse angiopathy in Adams-Oliver syndrome associated with truncating DOCK6 mutations. Am J Med Genet A 2014 0.79
19 Uniparental disomy: can SNP array data be used for diagnosis? Genet Med 2012 0.77
20 Duplication of AKT3 is associated with macrocephaly and speech delay. Am J Med Genet A 2014 0.76
21 BPES with atypical premature ovarian insufficiency, and evidence of mitotic recombination, in a woman with trisomy X and a translocation t(3;11)(q22.3;q14.1). Am J Med Genet A 2012 0.76
22 Etiology and outcome of fetal echogenic bowel. Ten years of experience. Fetal Diagn Ther 2003 0.76
23 Neonatal macrocephaly: cerebral primitive neuroectodermal tumor or neuroblastoma as an infrequent cause--a case report and review of the literature. Am J Perinatol 2007 0.75
24 Independent post-zygotic breaks of a dicentric chromosome result in mosaicism for an inverted duplication deletion 9p and terminal deletion 9p. Eur J Med Genet 2013 0.75
25 Life-history chronicle for a patient with the recently described chromosome 4q21 microdeletion syndrome. Am J Med Genet A 2012 0.75
26 Molecular breakpoint mapping of 6q11-q14 interstitial deletions in seven patients. Am J Med Genet A 2009 0.75